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Toms Guide

2011-2012




Complete Guide to
4
th
Year
Page | 2

Contents



Psychiatry Page 3

Paediatrics

Page 80
Otorhinolaryngology

Page 414
Ophthalmology

Page 460
Obstetrics and gynaecology

Page 500


*NOTES

Dermatology just use the online lectures and memorise the pictures

HCE just use the online lectures and learn the stats

Obstetrics and gynaecology guide is not objective based (read the
objectives and you will understand why)























Page | 3

Psychiatry Topics and Topic Outcomes


Introductory Sessions

1. Understand the expectations of students during the placement

2. Interview a patient in a professional manner and instil therapeutic
optimism

3. Obtain a relevant history from a patient and/or carer and present it
verbally to a colleague using appropriate terminology

There is no set way of taking a psychiatric history and in most respects it
is very similar to taking a normal history. The following are a list of
recommended headings and some information that should be included.
Obviously different conditions will require a different approach and more
specific questions.

Identifying Information Name, age, marital status, children, occupation,
legal status (i.e. sectioned or voluntary)

Presenting Complaint Try to record this in the patients own words. For
example a patient does not usually present with depression, instead they
may present with self harm. Try to include common symptoms of
conditions as well i.e. low mood, difficulty sleeping and poor self esteem
with depression.

History of Presenting Complaint The following headings may be useful in
structuring this question: duration, development, mode of onset, course,
severity, associated symptoms, and precipitating factors

Past Psychiatric History This should include dates and durations of
previous mental illness, details of previous treatment (medication,
psychotherapy, ECT or even hospitalisation), details of previous contact
with psychiatric services and details of previous assessment or treatment
under mental health legislation.

Family History Enquire about the presence of psychiatric illness
(including suicide and substance abuse) in family members. A family tree
may also be useful since genetics are implicated in the aetiology of most
psychiatric conditions. Enquire whether parents are still alive and causes
of death if not. Finally enquire about the patients relationship with close
family members.

Page | 4

Past Medical History As you would for a normal history. In particular
check for head injury/surgery, neurological conditions (i.e. epilepsy) and
endocrine abnormalities.

Drug History Note all medications including psychiatric, non-psychiatric
and OTC drugs. Check for non-compliance as well as adverse reactions
and allergies.

Substance Misuse Never avoid this due to embarrassment or fear of
upsetting the patient. Alcohol and substance related psychiatric conditions
are not uncommon! When assessing alcohol consumption as them about a
typical week. Try overestimating the amount if they wont give an answer
and see their response. Check the type of alcohol and when they have
their first drink and where. If illicit drugs then record name, route of
admission, years of use and frequency. Also try to illicit signs or
symptoms of dependence (see later).

Personal History This is basically taking a life history. There are four
main areas that should be focused on:
Infancy and early childhood (until age 5) pregnancy and birth
complications, developmental milestones, childhood illness and
unusually aggressive behaviour or impaired social interaction.
Later childhood and adolescence (until end of higher education)
school record, relationships (parents, teachers, peers), history of
abuse (physical, sexual or emotional), behavioural problems, drug
use, truancy, higher education, training
Occupation record type of duration of jobs, reasons for
unemployment and/or dismissal
Relationship, marital and sexual history puberty, significant
relationships, reasons for breakup, marriage/divorce, and ability to
engage in satisfactory sexual relationships.

Premorbid Personality An indication of the patients personality and
character before the onset of mental illness. A collateral history may be
useful here but the patient may sometimes be able to give details.

Forensic History Details and dates of previous offences and antisocial
behaviour, prosecutions, convictions and prison sentences. Ask about
violent crime in particular and the age of the patients first offence.

Social Circumstances Accommodation, social support, relationship,
employment, financial circumstances, hobbies and leisure activities.




4. Recognise the psychopathology of common psychiatric disorders
Page | 5


5. Perform a mental state examination and present it verbally to a
colleague using appropriate terminology

Mental state examination (MSE) describes the interviewers impression of
many aspects of a patients mental functioning at a certain period of time.
This should not be seen as a separate section as it begins the second the
patient enters the room. The key components are as follows:

Appearance and Behaviour Appearance includes the patients physical
state, clothing and accessories, do clothes match, are they appropriate for
the time of year and day, are they carrying strange objects, are the
clothes clean? Self-care and hygiene, self-neglect, injuries or self harm.
Behaviour focuses on motor behaviour such as tics, tremors, abnormal
movements, twitches as well as fear, aggression, suspiciousness and
catatonic features. Also assess psychomotor abnormalities such as
retardation and agitation.

Rapport Note whether you are establishing a good rapport and what is
the patients attitude towards you. Some ways to describe this include
cooperative, cordial, uninterested, aggressive, defensive, guarded,
suspicious, fearful, perplexed, preoccupied and disinhibited etc.

Speech The three important aspects of speech are rate, rhythm and
volume. Difficulties in quality and flow of speech should also be assessed
along with incoherent, bizarre or disorganised speech.

Mood and Affect Mood should be assessed subjectively (by asking the
patient how they are feeling) over a period of time and objectively (by
yourself). Affect (external expression of emotion as perceived by others)
is measured by observing the patients posture, facial expression,
emotional reactivity and speech. When reporting affect there are two
components to consider:
1) Congruity does the patients subjectively reported mood match their
observed mood (i.e. a smiling woman saying she is sad and suicidal is
incongruous affect)
2) The range of affect within normal range (reactive), blunted (reduced
intensity of expression) or flat (very little expression of emotion). Labile
mood refers to a fluctuating mood state that alternates between
extremes.

Thought Form Is it logical or is it disorganised and erratic such as
tangential thinking, loosening of association, flight of ideas etc.

Thought Content This includes delusions, abnormal beliefs and
overvalued ideas. The delusions may be primary or secondary, mood
congruent or incongruent and bizarre or non-bizarre.
Page | 6


Perception This includes any form of hallucination, what modality is it
in, are they Hypnagogic or hypnopompic or neither etc.

Cognition Usually an MMSE should be done to assess orientation,
registration, attention, calculation, language, executive functioning and
visuospatial skills.

Insight The patients understanding of their illness as well as the
recognition of the need of treatment. This may range from complete
denial to a genuine understanding and acceptance. Important questions
should include does the patient think they have a mental illness?; does
the patient feel ill?; and would the patient accept treatment?


6. An awareness of the risk factors and principles of acute management
for suicide, self-harm, neglect and harm to others

7. Carry out a clinical risk assessment on a patient with a common
psychiatric disorder

A risk assessment is very important to not only check for a risk of self
harm but also for harm to others or property. Currently psychiatry is bad
at getting this right so results should be used in combination with a
comprehensive assessment. The following areas should be considered:
Self-harm and Suicide risk factors include being male, aged 19-
34, divorced>widowed>single, unemployed/retired, social class 5,
living alone, social isolation, psychiatric illness, previous self harm,
alcohol abuse, physical chronic illness (often painful), family history.
Intent can also be assessed and this includes if the attempt was
planned, were precautions taken to avoid discovers, was a
dangerous method used, was help sought afterwards etc.

Self Neglect Partly the risk factors above but also depression and
psychiatric illness that affects cognition/memory

Exploitation are they are risk from exploitation (either from
random people in mania or from family and friends i.e. financially).

Deterioration Are they are risk of getting worse if no treatment is
given

Violence and Aggression either are they at risk to others or are
they at risk from others.

Children what age are the children, has the patient ever had any
command hallucinations or thought of harming them
Page | 7


Property and Driving risk from arson, accidental damage, driving
whilst on medication, trying to kill themselves using a car
(endangering others)




8. Reflect on the impact of a patients, carers or colleagues actions on
ones own emotional and behavioural responses

9. A basic understanding of the structure and delivery of psychiatric
services in the UK

10. Carry out a clinical risk assessment on a patient with a common
psychiatric disorder (duplicate of 7)

11. Recognise the limits of their own professional competence and seek
appropriate supervision


Psychosis

1. Knowledge of the epidemiology, aetiology and prognosis of psychosis

Epidemiology
incidence = 5-50/100,000 individuals per year and prevalence is
around 1%. Lifetime risk is around 1%.
Age of onset is between late teens and mid 30s. Women have a
later onset than men. Men: 18-25, Women: 25-35
Men and women have an equal incidence but the difference is hard
to compare due to differences in age of onset
There is an increased prevalence in lower socioeconomic classes
(class IV and V). A theory to explain this may be that psychosis
leads to a drift down the social economic scale. There is a higher
prevalence in urban areas compared to rural
Incidence is higher for immigrants, especially African-caribbeans in
the UK

Aetiology
Genetic Schizophrenia runs in families with a 50% concordance
rate for monozygotic twins compared with dizygotic twins (10%).
This is also supported by adoption studies.
Developmental factors May be linked to complications during
pregnancy and birth. An observation that more schizophrenics are
bored in late winter or spring suggests that second trimester
influenza infection may play a role
Page | 8

Brain abnormalities Imaging has shown structural and functional
changes in the brain. These finding may be secondary to the
condition or in fact its treatment. Changes included ventricular
enlargement (associated with negative symptoms) and reduced
brain size (frontal and temporal lobes, hippocampus, amygdala,
parahippocampal gyrus).
Neurotransmitter abnormalities Schizophrenia is thought to be
due to over activity of the mesolimbic dopamine pathway. Drugs
that potentiate this pathway (amphetamines and antiparkinsonian
drugs) are known to produce psychotic symptoms.
Life events Stressful life events often occur before the first
psychotic episode or recurrence and therefore may precipitate the
illness. It may however be the early stages of illness that cause
these stressful events
Expressed emotion When carers/family become over involved,
over critical or hostile towards psychotic patients then they are
more likely to relapse.

Prognosis
Generally the disease is chronic and shows a remitting and
relapsing pattern. About 20% have a single lifetime episode without
relapse.
More than 50% of patients have a poor outcome characterised by
repeated psychotic episodes with hospitalizations, depression and
suicide attempts.
About 10% of schizophrenic patients will successfully commit
suicide. The most at risk are young, well educated men who have
good insight into their disease. The period after discharge is the
most vulnerable.
Schizophrenic patients, on average, live 10 years less than the
general population
The prognosis is generally better in developing countries where
there may be better family support.
Factors associated with a good prognosis are: female sex, married,
older age of onset, abrupt onset, onset precipitated by life stress,
short duration of illness prior to treatment, good response to
medication, paranoid subtype, absence of negative symptoms,
prominent mood symptoms or a family history of mood disorder,
good premorbid functioning.


2. Knowledge of clinical presentation, including an understanding of the
ICD-10 diagnostic criteria, of psychosis

Psychosis can present with many symptoms including delusions,
hallucinations, psychomotor abnormalities, mood/affect disturbance,
cognitive deficits and disorganised thoughts and behaviour.
Page | 9


Perceptions hallucinations occur in the absence of physical stimuli and
appear as if real to a patient. Therefore patients often have little insight
into these. They occur in one of the five senses and are not ideas,
thoughts or images arising in the patients own mind. Illusions are a
distortion of a real external stimulus and occur in healthy adults.
Pseudohallucinations are hallucinations that arise from the patients inner
eye and not through a sensory organ.

Auditory hallucinations Simple unstructured sounds or single words are
more indicative or an acute organic state. Second person voices are often
associated with mood disorders with psychotic features so are often
critical or persecutory, i.e. mood congruent. Other forms include third
person hallucinations and audible thoughts.

Visual hallucinations These are rarer than auditory and occur more often
in organic disorders or with psychoactive substances.

Somatic hallucinations Sensations of bodily sensation and include:
tactile which is the skin being touched. This includes formication which is
the sensation of insects crawling on the skin, often associated with long
term cocaine use or alcohol withdrawal. Other types include thermal,
hygric (fluid), visceral and kinaesthetic.

Others Hypnagogic hallucinations occur as a person is falling to sleep
where as hypnopompic hallucinations occur as a person is waking up.
Extracampine hallucinations occur outside of the patients body.

Thought disorder

Abnormal beliefs and delusions A delusion is an unshakeable false belief
that is not accepted by other members of the patients culture. The belief
is as real as a true belief to the patient and is false due to faulty
reasoning. This also out of keeping with the patients social and cultural
background. Delusions are usually classified as: primary/secondary, mood
congruent/incongruent, bizarre/non-bizarre and according to content.

Primary delusions are delusions that do not occur in response to any
other psychopathology. They typically occur in schizophrenia and
other primary psychotic disorders.
Secondary delusions are the consequences of a pre-existing
psychopathological state; usually mood disorders.
Mood congruent/incongruent and bizarre/non-bizarre are self
explanatory.
Delusion by content there are many forms of delusional content
which included:
Page | 10

1) Persecutory, 2) Grandiose thinking you are extremely powerful, 3)
delusions of reference thinking objects , people or events have
intense personal meaning (e.g. the news reader is referring to you), 4)
Religious, 5) delusions of love (erotomania), 6) delusions of infidelity,
7) delusions of misidentification, 8) nilhilisitic delusions are false beliefs
that the world is about to end or they do not exist, 9) somatic e.g your
bowels are rotting away, 10) delusions of infestation, 11) delusions of
control includes thought insertion, withdrawal and broadcasting

Overvalued ideas A plausible belief that the patient is preoccupied
with to an unreasonable extent. They must have a significant impact
on the patients life and are distinguished from obsessions as they are
not recurrent intrusions. Typical disorder that features these include
anorexia nervosa.

Disorganised thinking the following are important signs of
disorganised thinking:
Circumstantiality and tangentiality speech that is delayed in
reaching its final goal because of the over inclusion of detail but
does eventually get to the point. Normal people may exhibit
circumstantiality but tangentiality is pathological as the speaker
never returns to the point.
Flight of ideas A stream of connected concepts through words,
puns or clang association.
Loosening of association (derailment or knights move thinking)
when a patients speech moves from one loosely or unrelated
topic to the next. Can be characteristic of schizophrenia.
Thought blocking stopping mid-sentence and then having no
recall of what they were saying and talk about a new topic.
Perseveration the unnecessarily repeating of words or
syllables. Palilalia describes the repeating of the last word of the
sentence. This is highly indicative of an organic brain disorder.
Echolalia senselessly repeating words or phrases spoken to
them

Negative symptoms These are a clinical deficit and include marked
apathy, poverty of thought and speech, blunting of affect, social isolation,
poor self care and cognitive deficits.

Psychomotor function Patients may present with some affect on motor
function, usually due to side effects of medication. However these can
occasionally occur which are not caused by medication or organic brain
disorder. Conditions include rigidity, stupor and tics.

ICD-10 Schizophrenia: One or more of the following:
Thought echo, insertion, withdrawal or broadcast
Delusions of control or passivity
Page | 11

Hallucinatory voices giving a running commentary discussing the
patient amongst themselves
Bizarre delusions
OR
Two or more of the following:
Hallucinations that either occur every day for weeks or that are
associated with fleeting delusions or sustained overvalued ideas
Thought disorganisation (loosening of association, incoherence or
neologism)
Catatonic symptoms
Negative symptoms
Change in personal behaviour (loss of interest, aimlessness or social
withdrawal)
All symptoms should be present for most of the time during at least 1
MONTH. Schizophrenia should not be diagnosed in the presence of organic
brain disease or drug intoxication/withdrawal.

First rank symptoms
Thought insertion, broadcast or withdrawal
Hallucinations of 3
rd
person, running commentary or thought echo
Somatic hallucinations, delusions of control/passivity, delusions of
perception

Schizophrenia Subtypes

Paranoid dominated by delusions and hallucinations. Negative
symptoms and catatonic symptoms as well as thought disorder are
not prominent. Better prognosis and later onset
Hebephrenic thought disorder, disturbed behaviour and
inappropriate/flat affect. Delusions and hallucinations are fleeting
and onset of illness is earlier with a poorer prognosis
Catatonic characterised by one or more catatonic symptoms
Residual 1 year of predominantly chronic negative symptoms
preceded by one clear cut psychotic episode
Post-schizophrenia depression follows a schizophrenic episode but
has few characteristics of schizophrenia.
Simple insidious onset with signs of residual depression without a
psychotic episode to precede it. Mostly negative symptoms

Schizophrenia-like psychotic disorders

Schizoaffective schizophrenia plus mood symptoms (depression or
mania) that present in the same episode of illness (within a few
days). The mood symptoms should meet the criteria for
depression/mania and the patient should have one or preferably
two core symptoms of schizophrenia.
Page | 12

Delusional disorder a set or single delusion for at least 3 months
which is the predominant symptom. Typical schizophrenia delusions
such as control or passivity will exclude this diagnosis.
Hallucinations may be fleeting and there may be brief depressive
episodes. On the whole the patient will function well both socially
and personally.



3. A basic understanding of the importance of therapeutic engagement,
including factors which may affect engagement

4. Knowledge of the physical, psychiatric, and social consequences of
psychosis, including stigma

5. Knowledge of the indications for antipsychotics

Before starting antipsychotics it is important to ask about diabetes,
hypertension and cardiovascular disease (and any family history of
these). Advice on diet, weight control and exercise should also be given.
Baseline tests include weight, fasting blood glucose, lipid profile, FBC, and
ECG. 6 monthly monitoring is also essential of LFTs, U&Es, prolactin,
weight and Hb
a1c
. More regular monitoring is required with Clozapine.

NICE recommends the use of atypical antipsychotics for all new patients
or those who are suffering from side effects of typical antipsychotics.
Typical antipsychotics are effective at treating positive symptoms but can
fail to treat or even worsen negative symptoms. They are also associated
with extra-pyramidal side effects (EPSE), neuroleptic malignant syndrome
and hyperprolactinaemia.
Atypical antipsychotics are at least effective as typical antipsychotics in
treating positive symptoms and may improve negative symptoms, mood
symptoms and perhaps even cognition. They are less likely to cause EPSE
and tardive diskinesia and so improve compliance.

Clozapine, quetiapine and, to a less extent, Olanzapine are prolactin
sparing. However antipsychotics do still cause many side effects. These
include:
Agranulocytosis Clozapine
Diabetes, weight gain, lipid abnormalities Clozapine, Olanzapine
and quetiapine
Increased prolactin levels risperidone and amisulpride

No atypical antipsychotics have shown to be more effective than another
except Clozapine which is used for treatment resistant schizophrenia (a
lack of satisfactory clinical improvement despite the sequential use of at
least two antipsychotics for 6-8 weeks, one of which should be an
Page | 13

atypical). Clozapine is not used first line due to the risk of potentially fatal
agranulocytosis.

Compliance is often poor (up to 80% of patients failing to use medication)
and so depot injections may provide a solution in some cases. The length
of treatment varies and patients may be able to withdraw gradually after
6-8 months of treatment. However medication remains a lifelong
treatment for most patients.

Other side effects include an increased risk of cardiovascular events when
used to treat the behavioural problems in dementia patients (Olanzapine
and risperidone). A fatal prolongation of the QT interval can also occur
with multiple antipsychotics. Olanzapine and Clozapine can lead to a
drastic gain in weight which needs to be monitored.

A survey of consultants showed that most would like to be treated with
risperidone if they personally were diagnosed with psychosis.

Other Medications

Benzodiazepines can provide short term relief of behavioural
disturbances, insomnia, aggression and agitation but do not have any
specific antipsychotic effects. Antidepressants such as lithium can be used
to augment antipsychotics in treatment resistant cases, especially when
there are significant affective symptoms. ECT is now rarely used.


6. Knowledge of the indications for psychological interventions in
psychosis

There are many psychological treatments that can be used in combination
with drug therapy. Until recently psychotic disorders were thought to be
unresponsive to psychological interventions.

Cognitive behavioural therapy effective at reducing symptoms and
helping patients with poor insight to come to terms with their
illness. This helps increase compliance with medication
Family psychological interventions focus on alliance building,
reduction of expressions of hostility and criticism, setting of
appropriate expectations and limits, and effecting change in
relatives behaviour and belief systems. This has been shown to
reduce relapse and admission rates
Support, advice, reassurance and education to both patients and
carers cannot be over emphasised
Social-skills training can help increase competence and help with
adaptive functioning in the community
Page | 14

Psychodynamic psychotherapy is not generally used with
schizophrenia


7. Knowledge of the indications and practical implementation of social
interventions in psychosis

Other issues, besides drugs and psychological treatments, need to be
addressed to enable rehabilitation into the community. This includes
finance, occupation, accommodation, daytime activities, social support
and support for carers.

All patients with schizophrenia should be assessed for the care-
programme approach (CPA) to maximise the coordination in delivery of
services. Community psychiatric nurses (CPNs), psychiatrists, OTs,
psychologists or social workers can be appointed as care coordinators and
their primary role is to coordinate the multifaceted aspects of patients
care and to monitor mental state and compliance with medication.

8. Develop a structured targeted management plan for an individual
patient with psychosis

9. Carry out a clinical risk assessment on a patient with psychosis

10. Recognise the psychopathology of psychosis

11. Employ a professional approach to distressed patients and carers

12. Act respectfully towards patients, carers and colleagues at all times

13. Show a non-judgemental approach to psychiatric disorders

14. Employ a professional approach to distressed patients and carers
(duplicated of 11)

15. Act respectfully towards patients, carers and colleagues at all times
(duplicated of 12)

16. Show a non-judgemental approach to psychiatric disorders
(duplicated of 13)

17. Employ a professional approach to distressed patients and carers
(duplicated of 11)

18. Work therapeutically with patients, taking into account a persons
unique socio-cultural background

Page | 15

19. Interview a patient in a professional manner and instil therapeutic
optimism (duplicate of 2 previous section)

20. An awareness of ethical and legal principles in clinical practice,
including the mental health act and mental capacity act

21. Explain the aetiology, bio-psycho-social management plan and
prognosis for psychosis to a patient, carer or colleague

22. Recognise the psychopathology of common psychiatric disorders
(duplicate of 4 previous section)


Antipsychotics

1. Knowledge of the indications. Mechanism of action and side effects of
antipsychotics

The typical antipsychotics largely target the D2 dopamine receptor in the
brain and cause its blockade. However these drugs often lead to serious
side effects and extra-pyramidal symptoms. These are related to
dopamine blockade in other areas of the brain. The atypical antipsychotics
have relatively little action at the D2 receptors and have few EPSEs.
These newer antipsychotics also can have the ability to block serotonin 2A
(5-HT2a) receptors.

Typicals

Phenothiazines e.g. chlorpromazine
Butyrophenones e.g. haloperidol
Thiozanthenes e.g. flupentixol

Atypicals

Dibenzodiazepines e.g. Clozapine
Thienobenzodiazepines e.g. Olanzapine
Benzisoxazoles e.g. Risperidone
Dibenzothiazepines e.g. Quetiapine
Substituted benzamides e.g. amisulpride

Indications

Psychiatric
Schizophrenia, schizoaffective disorder, delusional disorder
Depression or mania with psychotic features
Psychotic episodes secondary to medical conditions or psychoactive
substances
Page | 16

Delirium (caution in alcohol withdrawal as lowers seizure threshold)
Behavioural disturbances in dementia
Severe agitation, anxiety and violent or impulsive behaviour

Non-psychiatric
Motor tics
Nausea and vomiting e.g. prochlorperzaine
Intractable hiccups and pruritus

Mechanism of action

Conventional antipsychotics (typical) these are thought to block D2
receptors in the mesolimbic pathway. Unfortunately they also affect D2
receptors in the rest of the brain resulting in their characteristic side
effects. Other side effects are caused by the blockade of muscarinic,
histaminergic and alpha-adrenergic receptors.

Newer antipsychotics (atypical) although their actions are diverse, they
mostly block both serotonin 2A receptors and dopamine D2 receptors.
They also have differing affinities to other receptors, such as the
muscarinics, which accounts for their varied side effect profiles.

Side Effects

Typicals:
Mesolimbic pathway treatment of psychotic symptoms
Mesocortical pathway worsening of negative and cognitive
symptoms
Nigrostriatal pathway EPSEs
Tuberoinfindibular pathway Hyperprolactinaemia
Chemoreceptor trigger zone Anti-emetic effect
Anticholinergic dry mouth, constipation, urinary retention, blurred
vision
Alpha-adrenergic receptors postural hypotension
Histaminergic sedation, weight gain
Cardiac Prolongation of QT interval, arrhythmias, myocarditis,
sudden death
Dermatological photosensitivity, skin rashes
Others lowering of seizure threshold, hepatotoxicity, cholestatic
jaundice, pancytopenia, agranulocytosis
Neuroleptic malignant syndrome

Atypicals:
Clozapine agranulocytosis (1%) so regular FBC and white cell
count (first 18 weeks then 2 weekly until 1 year then monthly) are
essential, risk of seizures in high doses, hypersalivation, weight
gain, moderate risk of diabetes
Page | 17

Risperidone can cause EPSE in higher doses, weight gain and
increased prolactin
Olanzapine weight gain, sedation, high risk of diabetes
Amisupiride increased prolactin


2. Develop a structured targeted management plan for an individual
patient with psychosis


Mood disorders, suicide and deliberate self harm

1. Knowledge of the epidemiology, aetiology and prognosis of mood
disorders, self harm and suicide

Epidemiology Depression and bipolar
Recurrent depressive disorder occurs in 10-25% of women and 5-
12% of men. The usual age of onset is a patients late 20s and is
twice as common in women (2:1)
Bipolar affective disorder occurs in around 1% of the population and
occurs, on average, at the age of 20. There is no variation between
the incidence in females and males
Cyclothymia occurs in 0.5-1% of the population and has an average
onset age of adolescence or early adulthood. Again there is no
difference in incidence between males and females
Dysthymia occurs in up to 3-6% of the population and has an
average age of onset in childhood, adolescence or early adulthood.
This condition is 2-3 times more common in females than males (2-
3:1)

Aetiology Depression

The monoamine theory suggests that depression is due to a shortage
of noradrenaline, serotonin and possibly dopamine. This offers an
explanation as to why antidepressants can be an effective treatment.
It is likely that GABA and various other peptides are involved, although
this has not yet been proven.
There is also a suggestion that depression may be linked with
abnormalities of corticosteroid regulation by the hypothalamic-
pituitary-adrenal axis, or to disturbances in the lipid constituents of
neuronal membranes.
Twin studies have demonstrated a genetic element to depression, with
a history of depression in first-degree relatives being a significant risk
factor.
Psychological and social factors are also likely to play a significant role
in depression. Families that show high expressed emotion and criticism
have been shown to increase the relapse of depression. The risk of
Page | 18

depression is also increased in patients with certain personality
disorders. Another risk is adverse life events such as divorce, job loss,
bereavement.
Vulnerability factors in women include having three or more children at
home under the age of 14, not working outside the home, lack of a
confiding relationship and loss of mother before the age of 11.

Prognosis Depression

Depression is usually self limiting, and without treatment a first
depressive episode will generally remit within 6-12 months. However
depression is chronic and relapsing and at least 60% of patients have a
further depressive episode with the risk of future episodes increasing with
each relapse.
Depression is one of the most important risk factors for suicide. Rate of
suicide are over 20 times greater in patients with depression compared to
the general population.

Aetiology Bipolar

The monoamine theory for depression is also applicable to elevated mood,
with manic episodes thought to be due to an increased central
noradrenaline or serotonin level.
Twin studies have shown strong evidence for a genetic component of
bipolar affective disorder. Concordance rates in monozygotic twins were
65-75% compared with 14% in dizygotic twins.
Significant life events and stress can also provoke the first manic or
hypomanic episode. However, unlike depression, there are no personality
traits strongly associated with the development of bipolar affective
disorder.

Prognosis Bipolar

The prognosis is generally poor as more than 90% of patients, who suffer
from a single manic episode, go on to have further episodes. The
frequency of these episodes varies greatly but the average is four
episodes in 10 years. 5-15% of patients have four of more episodes in 1
year which is termed rapid cycling and is associated with poor prognosis.
10-15% of patients complete suicide successfully.

Other mood disorders

Dysthymia and Cyclothymia

The extent to which these two conditions resemble depression and bipolar
is unclear. There are biological and genetic similarities between these
conditions.
Page | 19

Both conditions have an insidious onset and chronic course, often
beginning in childhood or adolescence. A significant number of patients
with Cyclothymia will go on to suffer more severe affective disorders,
most likely bipolar affective disorder. Dysthymia can coexist with
depression (double depression), anxiety disorders and borderline
personality disorders.

For suicide see objective 6


2. Knowledge of clinical presentation, including an understanding of the
ICD-10 diagnostic criteria, of mood disorders

Feelings are a short-lived emotional state whereas mood describes a
patients sustained, subjectively experienced state of emotion over a
period of time. A depressed mood is when patients report feeling sad,
down in the dumps, or low in spirits and are unable to lift themselves out
of this mood. Its severity is often out of proportion to the stressors in
their surrounding social environment.
Two symptoms that are particularly important depressive features
commonly associated with depressed mood are:
A markedly reduced interest in almost all activities and a lack of
ability to derive pleasure from these activities that were formerly
enjoyed (anhedonia)
Lack of energy or increased fatigability on minimal exertion leading
to diminished activity (anergia).
It can be helpful to divide symptoms into cognitive, biological and
psychotic and severe motor symptoms.

Cognitive symptoms

These are thoughts that the patient has about themselves and the world
as well as global brain functioning. This includes:
Reduced concentration and attention
Poor self-esteem
Guilt about past minor failings and is disproportionate to the
original offence. May feel guilty about being depressed
Hopelessness

Biological symptoms

Some believe that a biological depression exists which is depression in
the absence of any external environmental cause. If a patient has 4 or
more of the following symptoms then it can be coded for in the ICD-10:
Loss of interest or pleasure in activities that are normally enjoyable
Reduced emotional reactivity
Early morning wakening
Page | 20

Depression worse in the morning
Psychomotor retardation or agitation
Marked loss of appetite
Weight loss of 5% in past month
Loss of libido

Psychotic and severe motor symptoms

In severe depressive episodes patients may suffer from delusion,
hallucinations or a depressive stupor; termed psychotic symptoms. These
delusions and hallucinations can be mood congruent or mood incongruent.
These are most often mood congruent so take the form of criticizing
voices or the smell of rotting flesh. Stupor may occur which is an extreme
unresponsiveness and lack of voluntary movement that can border on
mutism. Severe motor symptoms are more common in schizophrenia and
bipolar affective disorder but can occur in unipolar depression.

ICD-10 for depressive episodes

The following symptoms should be present for at least two weeks
At least two of the following core symptoms:
Depressed mood
Loss of interest and enjoyment
Reduced energy or increased fatigability
AND
At least two of the following:
Reduced concentration and attention
Reduced self-esteem and self-confidence
Ideas of guilt and unworthiness
Bleak and pessimistic views of the future
Ideas or acts of self-harm or suicide
Disturbed sleep
Diminished appetite

Severity
Mild: 4 or more symptoms
Moderate: 5/6 symptoms
Severe: 7 or more symptoms including all 3 core symptoms
Severe with psychotic symptoms
With somatic syndrome: 4 or more of the 8 biological symptoms

Mania

Mania is an elevated or irritable mood where the patient may often feel
high. Some patients become extremely irritable or suspicious and do not
enjoy the experience at all. They have a low frustration tolerance and any
thwarting of their plans can lead to a rapid escalation in anger or even
Page | 21

delusions of persecution. A mixture of manic and depressive symptoms is
diagnosed as mixed affective disorder.

Biological symptoms
Decreased need for sleep early warning sign and no associated
with fatigue
Increased energy goal directed energy and impaired judgement
can have disastrous consequences. The behaviour can become
repetitive, stereotyped and purposely even progressing to a manic
stupor. On examination the patient is unable to sit still, pacing
around, gesticulating expansively.

Cognitive symptoms
Elevated self-esteem or grandiosity extreme is delusions of
grandeur
Poor concentration highly distractible
Accelerated thinking may present with flight of ideas and
pressure of speech (need to express ideas and hard to interrupt)
Impaired judgement and insight

Psychotic symptoms
Disorders of thought form circumstantiality, tangentiality, flight of
ideas and secondary delusional thinking
Perceptual disturbances altered intensity of perceptions

ICD-10 does not specify a set number of symptoms but focuses on the
degree of psychosocial impairment. However the patient will usually have
an elevated or irritable mood with an increase in quantity and speed of
mental and physical activity.
Must be present for 1 week to diagnose mania



3. Knowledge of physical conditions that present with psychiatric
symptoms, including appropriate investigations for mood disorders

There are many conditions that cause low mood and these can be divided
into neurological, endocrine, infections, others and drugs.

Neurological MS, Parkinsons disease, Huntingtons disease, spinal cord
injury, stroke, head injury or cerebral tumours

Endocrine Cushings disease, Addisons disease, Thyroid disorders
Parathyroid disorders or menstrual cycle-related

Infections Hepatitis, infectious mononucleosis, Herpes simplex,
brucellosis, typhoid, HIV/AIDS or syphilis
Page | 22


Others Malignancies, SLE, rheumatoid arthritis, renal failure, porphyria,
vitamin deficiencies or chronic pain

Drugs
Antihypertensives: Beta-blockers, methyldopa, reserpine
Steroids: corticosteroids, oral contraceptives
Neurological drugs: L-dopa, carbamazepine, phenytoin,
benzodiazepines
Analgesics: Opiates, ibuprofen, indometacin
Psychiatric: antipsychotics
However it should be noted that many of these medical conditions can
cause a lot of suffering and a significant degree of this may cause
secondary depression for psychological reasons.

Assessment

Initially a clinical assessment should be conducted. The following
questions may be useful in eliciting the key symptoms of depression:
1) Have you been cheerful or quite low in mood or spirits lately?
2) Do you find that you no longer enjoy things the way you used to?
3) Do you find yourself often feeling very tired or worn out?
4) How do you see things turning out in the future?
5) Sometimes when people are depressed they have a poor sex drive.
Has this happened to you?

After this specialist investigations are needed. These included social,
psychological and physical aspects.

Social
Collateral information from the GP, CPN and family
Consider a home visit
Consider interviewing immediate family

Psychological
Ask patient to keep a mood diary
Use self report inventories for quantitative ratings of mood

Physical
Conduct a thorough neurological and endocrine system examination
to exclude all organic causes
Examinations also can help assess baseline values for medication,
assess renal and liver function and check for signs of neglect
Tests should include FBC, U&Es, LFTs, TFTs, calcium and ESR
Also if indicated: B12, folate, drug screen, ECG, EEG and CT head


Page | 23

4. A basic understanding of the importance of therapeutic engagement,
including factors which may affect engagement

5. Knowledge of the physical, psychiatric and social consequences of
mood disorders



6. An awareness of the risk factors and principles of acute management
for suicide, self harm, neglect and harm to others

Self harm

The motives for deliberate self harm are huge, with the majority of people
not intending to kill themselves. Such motives include emotional relief,
self punishment, attention seeking and even a way of self help by
channelling intolerable emotional experiences into a discrete physical
sensation.

Epidemiological risk factors:
Men are more likely to complete suicide but women engage in more
parasuicidal activity
Rates highest in men 19-34 years old
Divorced>widowed>single
Social class V
Living alone

Clinical risk factors:
Psychiatric illness
Previous deliberate self harm
Alcohol dependence
Physical illness especially terminal illness and debilitating or
chronically painful conditions
Family history of depression, alcohol dependence or suicide
Recent adverse life-events (especially bereavement)

Psychiatric illness

About 90% of patients who commit suicide have a diagnosable psychiatric
disorder but only 25% of these are in contact with services. Patients who
have recently been discharged from hospital are a very high risk group.
Depression most common (50-80% of completed suicides) with
15% lifetime risk
Schizophrenia 10% lifetime risk (highest in young, intelligent,
unemployed males with good insight)
Alcohol dependence 3-4% lifetime risk
Personality disorders high risk
Page | 24

Organic brain disease 5% of all completed suicides
Anxiety and eating disorders Increased risk

Suicidal Intent

There are certain aspects of a suicide attempt that suggest the person
has a serious wish to end their life rather than a cry for help.
1) The attempt was planned in advance
2) Precautions were taken to avoid discovery or rescue
3) A dangerous method was used e.g. firearms
4) No help was sought after the act

Management

Initially a mental state examination should be done in a calm, quiet and
confidential setting. It is also important that the patient has had a chance
to rest and is not under the influence of any drugs or alcohol. It is also
vital to carry out an extensive risk assessment. The following should then
be assessed:
Current mood state is there any regret or ongoing suicidal
ideation. Features of hopelessness or worthlessness are associated
with higher risk of suicide
Ascertain protective factors anything to stop the patient doing it
again i.e. not wanting to leave their kids alone
Check for an undiagnosed mental illness especially depression,
schizophrenia, alcohol dependence and personality disorders.
Social support what do they have available to them if discharged,
do they have the ability to cope?

After the hospital has initially managed and stabilised the patient it must
be considered whether an inpatient stay is needed or if they can be
released back into the community and followed up by a CPN.

Prevention

There are many things that can be done long term to help reduce the risk
of suicide. Such things include:
Eat healthily and exercise regularly
Avoid alcohol or stick to your recommended units
Don't use drugs to cope (unless prescribed)
Avoid isolation
Stay positive


7. Knowledge of the treatment strategies for, physical, psychiatric and
social consequences of harmful use of and dependence on alcohol and
other drugs
Page | 25


Substance dependence describes a syndrome that incorporates
physiological, psychological and behavioural elements. A patient
exhibiting either tolerance or withdrawal is said to be dependent.
Dependence syndrome is diagnosed if three or more of the following have
been present during the previous year.
1. A strong desire or compulsion to take the substance
2. Difficulties in controlling substance taking behaviour
3. Physiological withdrawal state when reducing dose, or continuing to
use substance to avoid this state
4. Signs of tolerance: increased quantities needed to provide the same
effect originally produced by a lower dose
5. Neglect of other interests and activities due to time spent acquiring and
taking substance or recovering from its effects.
6. Persistence with substance use despite clear awareness of harmful
consequences.

Treating alcohol withdrawal

Firstly note that not all dependent patients will experience significant
withdrawal symptoms. The treatment of withdrawal is commonly termed
detox. The following should be regarded:
It should be possible to safely and effectively detoxify most patients
in the community as an out-patient over the course of 1 week.
Contraindications to this include severe dependence, a history of
withdrawal seizures or delirium tremens, an unsupportive home
environment and a previously failed community detoxification. In
this case an in-patient stay is advised.
To ameliorate severe symptoms and reduce the risk of
seizures/delirium, a drug with cross tolerance to alcohol is used
(usually diazepam or lorazepam). High doses are initially given and
then tapered down over 5-7 days.
In order to avert a Wernickes encephalopathy it is wise to give
thiamine (vitamin B1) supplements daily (100mg).

If delirium tremens develops then emergency hospitalisation is essential.
Firstly search for medical complications including infection, head injury,
liver failure, GI haemorrhage or Wernickes encephalopathy. Then give
large doses of drugs with alcohol cross tolerance, large doses of
parenteral thiamine and consider antipsychotics for only severe psychotic
symptoms (lowers seizure threshold). There is also a risk of
hyperthermia, dehydration, hypoglycaemia, hypokalaemia and
hypomagnesaemia so these should all be monitored. Wernickes
encephalopathy can also lead to Korsakoffs syndrome (amnesia 80%).

Maintenance

Page | 26

Detox does not remove any addiction but simply helps the patient
manage with withdrawal symptoms. Therefore it may be necessary to
provide further support to prevent re-drinking.
Disulfiram (Antabuse) block alcohol oxidation and leads to an
accumulation of acetaldehyde. This leads to anxiety, flushing,
palpitations, headaches and a choking sensation within 20 minutes.

Psychosocial interventions

Motivational interviewing and the application of Prochaska and
DiClementes stages of change model, which moves patients
through a cycle of change from precontemplation to
contemplation to determination to action to maintenance.
CBT
Group therapy
Alcoholics anonymous is a 12 step programme that may be used
Social support: social workers, probation officers and citizens advice
agencies can all help
Primary prevention: increasing the cost of alcohol through taxation
appears to be the most effective strategy in reducing overall
consumption. Limiting availability, curtailing advertising and health
education seem less effective measures.

Course and Prognosis

Alcohol dependence has a variable course and is characterised by many
relapses. However highly functioning individuals show a higher than 65%
1-year abstinence rate following treatment. Good prognostic indicators
include a stable relationship, employment, stable living conditions, good
insight, good motivation and good social support.
Alcohol-dependent individuals have a 3.6 fold excess mortality compared
with age-matched controls. The lifetime suicide risk is 3-4% which is 60-
120 times that of the general population.

Other Psychoactive Substances

Opiates

Patients should be educated about harm minimisation including the
risk of using contaminated injecting equipment (HIV, hepatitis B
and C, infective endocarditis etc) and unsafe sexual behaviour.
Clean needles and injecting equipment, hepatitis B vaccination and
condoms should be offered.
Withdrawal can be distressing but is not life-threatening and may be
attempted in mild to moderate dependence. The symptoms may be
ameliorated by lofexidine, a centrally acting alpha-adrenoceptor
agonist that reduces sympathetic outflow.
Page | 27

Patients can be offered maintenance opiates if severely dependent.
This is done by converting to a longer acting oral opiate methadone.
This helps stabilise a users life and withdraws the complication of
injecting. A urine drug screen is needed initially to determine the
level of dependence.
Methadone can be used indefinitely but the dose should be aimed to
be reduced over time.
Sublingual buprenorphine (subutex) is a partial opiate agonist and
is also used as a substitute therapy for patients with moderate
dependence. Because it is a partial agonist it may cause withdrawal
in patient who are highly dependent (>30mg daily).
Once detoxified a drug called naltrexone (an opiate antagonist) can
be used to block the euphoric effects of continued opiate use.
Psychological interventions are also vital to good therapeutic
outcomes and include motivational interviewing, CBT and social
support.

Benzodiazepines

As with alcohol, withdrawing from benzodiazepines can be fatal and
lead to hallucinations, convulsions and delirium. Initially patients
should be converted from short acting compounds (e.g. lorazepam)
to longer acting compounds (usually diazepam). Doses are then
reduced very slowly by a small amount each week.

Cocaine and amphetamine

Both cocaine and amphetamine can be stopped abruptly.
Antidepressants may help the ensuing depressed mood that follows
withdrawal.
Psychotic disorders induced by these drugs benefit from
symptomatic treatment with short courses of benzodiazepines and
antipsychotics.


8. Knowledge of the indications, mechanism of action and side effects of
antidepressants, mood stabilisers and ECT

Antidepressants will be talked about in psychopharmacology 2:
antidepressants.

Mood stabilisers

This includes lithium and the anticonvulsants valporate and
carbamazepine. Other anticonvulsants such as lamotrigine, gabapentin,
vigabatrin and topiramate are currently being investigated for mood
stabilising properties.
Page | 28


Mechanism of action

It is currently not known how mood stabilisers actually work. Lithium is
thought to modulate the neurotransmitter induced activation of second
messenger systems. Valporate and carbamazepine may exert their effect
via the GABA system: carbamazepine is a GABA agonist and valporate
inhibits GABA transaminase.

Indications

Lithium is used in the treatment of: acute mania, prophylaxis of
bipolar affective disorder, treatment resistant depression (lithium
augmentation), others adjunct to antipsychotics in schizoaffective
disorder and schizophrenia, and aggression/impulsivity.

Valporate is used in the treatment of: epilepsy, acute mania,
prophylaxis of bipolar affective disorder.

Carbamazepine is used in the treatment of: epilepsy, prophylaxis of
bipolar affective disorder (if unresponsive to lithium), rapid cycling
bipolar disorder, others: treatment resistant mania, depression or
schizophrenia, trigeminal neuralgia, impulse control disorders.

Side effects and contraindications

All these medications have multiple drug interactions so the BNF should
be consulted before new medications are introduced.

Lithium: lithium has a narrow therapeutic range (0.5-1 is therapeutic,
>1.5 is toxic and >2 is dangerous). Lithium is also excreted almost
entirely by the kidneys so clearance is decreased with renal insufficiency
and sodium depletion. Drugs such as diuretics, NSAIDS and ACEIs can
also increase lithium levels. Antipsychotics can also increase lithium
neurotoxicity and so should be combined cautiously. Prior to therapy the
following investigations are needed: FBC, GFR, U&Es, TFT, ECG and
pregnancy test.
Blood levels are monitored weekly until a therapeutic level has been
stable for 4 weeks. Then bloods should be checked every 3 months, renal
function every 6 months and thyroid function every year.
Contraindications include pregnancy, renal insufficiency, thyroid disease,
cardiac conditions, neurological conditions (e.g. Parkinsons or
Huntingtons).
Side effects: thirst, polydipsia, polyuria, weight gain, oedema, fine
tremor, worsening of skin problems, concentration problems,
hypothyroidism, impaired renal function, t-wave flattening or inversion,
leucocytosis, teratogenicity.
Page | 29

Toxicity signs include nausea, vomiting, apathy, ataxia, muscle weakness,
impaired consciousness, dysarthria, oliguria, hypotension, convulsions
and coma.

Carbamazepine and Sodium Valporate

Liver function tests and haematological functions should be checked prior
to and soon after starting these drugs due to the risk of serious blood and
hepatic disorders.
The side effects are:
Valporate: increased appetite, weight gain, ankle swelling, hair loss,
nausea and vomiting, tremor, haematological abnormalities, raised
liver enzymes
Carbamazepine: nausea, vomiting, skin rashes, blurred or double
vision, ataxia, drowsiness, fatigue, hyponatraemia, fluid retention,
haematological abnormalities, raised liver enzymes

ECT

Indications

ECT is mostly used for depression although antidepressants are usually
first line treatment. ECT is considered for the following forms of
depression:
With life-threatening poor fluid intake
With strong suicidal intent
With psychotic features or stupor
When antidepressants are ineffective or not tolerated
ECT can precipitate a manic episode for bipolar patients but is also an
effective treatment in established mania. ECT can also be used for certain
types of schizophrenia, specifically catatonic states, positive psychotic
symptoms and schizoaffective disorder. ECT is also used in puerperal
psychosis (new mothers) to rapidly reunite her with her baby.

Mechanism of action

ECT is administered 2-3 times per week and most patients need 4-12
treatment. An anaesthetist gives a short acting inducing agent and
muscle relaxant that ensures about 5 minutes of general anaesthesia.
Electrodes are then placed bilaterally or unilaterally on the patients head
and an electric current of sufficient charge is delivered to affect a
generalized seizure lasting for 15 seconds or greater in duration.
It is not clear how ECT works. It causes a release of neurotransmitters in
the brain as well as hypothalamic and pituitary hormones whilst also
affective neurotransmitter receptors and second-messenger systems
thereby resulting in a transient increase in blood-brain barrier
permeability.
Page | 30


Side effects

The mortality is the same as any surgery under general anaesthetic. Loss
of memory is a common complaint, particularly for events surrounding
the ECT process. Some patients may have an impairment of
autobiographical memory.
Memory impairment can be reduced by unilateral electrode placement.
Minor complains such as nausea, confusion, headache and muscle pains
are experiences by 80% of patients. In patients on antidepressants and
antipsychotics a prolonged seizure may occur due to a lowered seizure
threshold.

Contraindications

There are no absolute contraindications to ECT. However some relative
contraindications include:
Heart disease
Raised intracranial pressure
Risk of cerebral bleeding
Poor anaesthetic risk



9. Knowledge of the indications, theories and practical implementation of
psychological interventions

There are three main types of psychological interventions that can be
used.

Counselling and supportive psychotherapy

This represents the least complex of the therapies available. It is usually
brief in duration and is recommended for clients with minor mental health
or interpersonal difficulties. It can also be used for grief or bereavement.
The emphasis relies on the client using their own strength with the
therapist being reflective and empathetic. This title also includes given
advice and information which is done by all healthcare professionals.
Counselling may be person centred where the therapist takes an
empathetic and reflective role and allows the client to discover their own
insights as they ultimately know best. Problem solving counselling is more
directive and focused as clients are actively assisted in finding solutions to
their problems.
There is evidence that this may help in anxiety and depression in primary
care but is not useful for more severe forms of these or other mental
disorders.

Page | 31

Psychodynamic/Psychoanalytic Psychotherapy

In this form of therapy it is assumed that mainly unconscious thoughts,
feelings and fantasies give rise to the distressing symptoms. These are
thought to arise in childhood if an individual does not progress through
the various stages of psychological development. The aim of this therapy
is to make the symptom causing unconscious processes conscious. It is
the therapists job to interpret these processes and help the patient
understanding in the context of a safe and caring environment.

The main principles of psychoanalytic psychotherapy are as follows:
Transference: where the patient inappropriately transfers feelings or
attitudes experienced in an earlier significant relationship onto the
therapist e.g. a patient becomes cold and angry to his therapist
whom he sees as uncaring, unconsciously reminding him of his
mother.
Counter-transference: This is the reverse of transference and is
when the therapist inappropriately transfers feelings or attitudes
experienced in an earlier significant relationship onto the patient.
Defence mechanisms: ways of defending ourselves from mental
pain or upset. These are used by everyone but can be maladaptive
if used in the wrong situation. One example is projection.

This form of therapy can be done with individuals, a couple or a group.
The sessions are usually once a week for 50 minutes. They can be open
ended or time limited depending on the severity and type of problem. If
the problem is thought to have a focus then it may be possible to work
within a shorter time frame, e.g. 6 months.

Cognitive Behavioural Therapy

This is a process based on the concept that the way individuals think
about/interpret things subsequently determines how they feel and
behave. Cognitive technique includes eliciting automatic thoughts and
dysfunctional assumptions and then testing their validity.
Automatic thoughts are the many thoughts that involuntarily enter an
individuals mind in response to a specific situation e.g. He doesnt like
me; Im such an idiot.
Dysfunctional assumptions are the faulty rules that individuals live by
which, when broken, lead to psychological distress e.g. If I dont come
first then I am completely useless. These can be challenged by
behavioural experiments.

CBT varies from psychodynamic/psychoanalytic therapy in the following
ways:
CBT tends to be time limited (12-25 sessions)
Page | 32

CBT is goal orientated and focuses on the presenting problem, and
hence is less concerned with how the problem developed
The client and CBT therapist are strongly collaborative in deciding
on the sessions agenda and case formulation
CBT involves the patient does homework assignments

Other Therapy

There a numerous other types of therapy which include:
Interpersonal therapy (IPT) evaluating social interactions and
skills
Group therapy provides a supportive and effective environment.
The patients see that they are not on their own
Family therapy focuses on the family as a whole to improve
communication and reduce conflict
Therapeutic communities cohesive residential units that consist of
about 30 patients for 9-18 months. The residents are encourage to
take responsibility for themselves during this time and are
particularly useful for personality disorders.

Indications of psychological treatment

Stressful life event Counselling
Depression CBT, IPT, group therapy,
psychodynamic therapy
Anxiety disorder and OCD CBT
PTSD Systematic desensitization,
hypnotherapy, psychodynamic
therapy
Schizophrenia CBT, family therapy
Eating disorder CBT, IPT, family therapy
Borderline personality disorder Psychodynamic therapy, therapeutic
communities, cognitive analytic
therapy
Alcohol dependence CBT, group therapy





10. Knowledge of the indications and practical implementation of social
interventions in common psychiatric disorders

11. Develop a structured targeted management plan for an individual
patient with a mood disorder or self harm

12. Recognise the psychopathology of mood disorders
Page | 33


13. Explain the aetiology, bio-psycho-social management plan and
prognosis for mood disorders to a patient, carer or colleague

14. Carry out a clinical risk assessment on a patient with a common
psychiatric disorder


Psychopharmacology 2: Antidepressants

1. Knowledge of the indications, mechanism of action and side effects of
antidepressants

Indications

Firstly it should be noted that, although named antidepressants, these
drugs are used to treat a wide variety of disorders including depression,
anxiety and even eating disorders.

The large number of antidepressants out there gives physicians a lot of
options for treatment. Secondly, few antidepressants have been shown to
be more effective than another (apart from Venlafaxine which has been
shown to be slightly more effective). Therefore it is common to choose an
antidepressant based on its side effect profile rather than its efficacy.

An adequate dose for 4-6 weeks is usually enough to produce a response
in 60-70% of patients. When remission is brought about these drugs
should be continued for a further 6 months before being tapered off.

TCAs: Depression, anxiety disorders, OCD, chronic pain, nocturnal
enuresis, narcolepsy, eating disorders

SSRIs: Depression, anxiety disorder, OCD, bulimia nervosa

MAOIs: Depression (especially atypical hypersomnia, overeating,
anxiety), anxiety disorders, eating disorders, chronic pain

Mechanism of action

Each antidepressant class varies slightly in its mechanism of action.
However, what is common is that they all act to increase
neurotransmitters in the brain. This can be through the dopamine,
serotonin or noradrenaline pathway.

TCAs (e.g. amitriptyline): Presynaptically blockade both noradrenaline
and serotonin reuptake pumps (and dopamine to a lesser extent).
However they also blockade muscarinic, alpha-adrenergic and
Page | 34

histaminergic receptors which is the reason for their significant side effect
profile.

SSRIs (e.g. fluoxetine, citalopram): selective presynaptic blockade of
serotonin reuptake pumps

SNRIs (serotonin-noradrenaline reuptake inhibitors e.g. venlafaxine):
presynaptic blockade of both the noradrenaline and serotonin reuptake
pumps (also dopamine if using high doses). Negligible effects are had on
the muscarinic, histaminergic and alpha-adrenergic receptors.

MAOIs (monoamine oxidase inhibitors e.g. isocarboxazid): non-selective
and irreversible inhibition of monoamine oxidase A and B

RIMA (reverse inhibitor of monoamine oxidase A e.g. moclobemide):
selective and reversible inhibition of monoamine oxidase A

NaSSA (noradrenergic and specific serotonergic antidepressant e.g.
mirtazapine): presynaptic alpha 2 receptor blockade (results in increased
noradrenaline and serotonin from presynaptic neurons)

NRIs (noradrenaline reuptake inhibitor e.g. reboxetine): selective
presynaptic blockade of noradrenaline reuptake pumps.

Side effects and contraindications

TCAs
Most of the side effects of this class are related to their multi-receptor
blocking effect. Their sedative properties can also be of benefit to some
patients. Due to their cardio toxic effects they are particularly dangerous
in overdose, especially amitriptyline. Contraindications include a recent
MI, arrhythmias, severe liver disease and mania.
Side effects include:
Muscarinic: dry mouth, constipation, urinary retention and blurred
vision
Alpha-adrenergic: postural hypotension
Histaminergic: weight gain, sedation
Cardio toxic effects: QT interval prolongation, ST segment
elevation, heart block, arrhythmias

SSRIs
This class have fewer anticholinergic side effects and are less sedating
than TCAs. They are the class of choice in patients with heart disease or
those at risk of overdose, due to their absence of cardio toxic effects.
Contraindications include mania
Side effects include:
GI disturbance (early only): nausea, vomiting, diarrhoea, pain
Page | 35

Anxiety and agitation (early only)
Loss of appetite and weight loss (occasionally weight gain)
Insomnia
Sweating
Sexual dysfunction (anorgasmia, delayed ejaculation)

MAOIs/RIMA
This class is largely second line due to the extensive and serious risk of
interactions with foods and other drugs. This reaction results in the
accumulation of amine neurotransmitters and impairs the metabolism of
some amines found in drugs and foods (cheese reaction). This can lead to
a life threatening hypertensive crisis. Note, the early warning sign is a
throbbing headache. RIMAs are less likely to cause this effect as they
reversibly inhibit monoamine oxidase A. Therefore no dietary restrictions
are generally required with this class.

When administering this drug with other antidepressants with strong
serotonergic effects then there is a risk of developing a potentially lethal
serotonin syndrome. Therefore this class of drug should not be used for
2-3 weeks after stopping a previous antidepressant or before starting a
new one. Opiates should also be avoided with this class for the same
reason. Contraindications include phaeochromocytoma, cerebrovascular
disease, hepatic impairment and mania.
Side effects include: Similar to the TCAs and include postural hypotension
and anticholinergic effects.

Withdrawal

When withdrawing from antidepressants it is important that they are not
abruptly stopped. This may cause a discontinuation syndrome with GI
disturbances, agitation, dizziness, headache, tremor and insomnia. SSRIs
with short half lives and venlafaxine (SNRI) are particular culprits.
Therefore all antidepressants should be gradually tapered down. However,
note that this is not a dependence syndrome or addiction.


Personality Disorders

1. A basic understanding of the structure and delivery of psychiatric
services in the UK

2. Knowledge of the normal psychological and behavioural responses to
life events

3. Knowledge of clinical presentation, including an understanding of the
ICD-10 diagnostic criteria, of personality and somatisation disorders

Page | 36

Epidemiology

The prevalence of personality disorders is hard to measure as the case
definitions are often poor and a consensus is yet to be agreed. However it
is thought that the community prevalence is 4-13% (50-80% in prisons).
There are a wide range of personality disorders, each with a prevalence in
the general population of 1-3%.

Aetiology

The aetiology of personality disorders is not known but it is thought that
both genetic and environmental factors are important. There is strong
genetic evidence from twin studies and the fact that similar disorders (i.e.
schizotypal personality disorder and schizophrenia) run in families.
Others suggest that these problems may be neurodevelopmental
disorders, possibly within the autistic spectrum. There is evidence that
minimal brain damage can increase the risk of a personality disorder
which may be associated with EEG changes.
Low levels of serotonin, and the fact that some patients improve when on
SSRIs, indicates that neurotransmitters might have a significant influence
on personality.
A common theory is that of early adverse social circumstances being
associated with the development of a borderline personality disorder. This
may be physical, sexual or mental abuse. This may prevent the child from
progressing through the stages of psychosexual development with the
subsequent development of characteristic defence mechanisms.

Presentation

Personality as a term is hard to describe and there are over 100 different
definitions. The DSM-IV defines personality traits as enduring patterns of
perceiving, thinking about and relating to the environment and oneself
that are exhibited in a wide range of social and personal contexts. It is
only when these traits are persistently inflexible and maladaptive and
which cause personal distress, is a personality disorder said to exist.

Patients with personality disorders do not regard their behaviour and
coping style as abnormal and therefore will not present with that as their
primary complaint. Instead they usually present with a wide range of
problems e.g. self harm, depression, anxiety, violence, PTSD, disorderly
conduct etc. Such patients are also likely to have other mental illnesses
(30-60% of patients with a psychotic disorder also have a personality
disorder).

Classifications

Page | 37

Personality disorders are classified into two groups according to their
aetiology. The first is a group of acquired personality disorders where the
disorder clearly develops after, and is directly related to, a recognizable
insult. Organic personality disorder results when the insult is some form
of brain damage or disease. It is characterised by sexual inhibition and
abnormalities of emotional expression. The lesion is typically in the frontal
lobe. This category also contains people who have an enduring personality
change after experiencing a catastrophic event (i.e. hostage situation,
concentration camp).

The second group includes specific personality disorders where a casual
relationship with one specific thing is difficult to find (although genetic
and environmental factors may be implicated). These usually have their
onset in adolescence or early adulthood and have a fairly steady course.
The ICD-10 and DSM-IV use a categorical approach to classify these
disorders also patients are on a continuum so rarely fit into one specific
area. These categories are simplified further into three discrete clusters
based on general similarities.

Cluster A: odd or eccentric
Paranoid suspecting others of hurting/deceiving them, doubt
spouses fidelity
Schizoid emotional coldness, does not desire or enjoy
relationships, takes pleasure in few activities, indifferent to praise
or criticism
Schizotypal eccentric behaviour, odd beliefs or magical thinking,
unusual perceptual experiences, social withdrawal, ideas of
reference, circumstantial thinking

Cluster B: dramatic, emotional, erratic
Borderline unstable, intense relationships fluctuating between
extremes of idealization and devaluation. Unstable self image,
impulsive (sex, binge eating, substance abuse, spending money),
repetitive suicidal or self-harming behaviour, efforts to avoid
abandonment
Antisocial repeated unlawful or aggressive behaviour,
deceitfulness, lying, reckless, irresponsible, lack of remorse or
incapacity to experience guilt
Histrionic dramatic, exaggerated expressions of emotion,
attention seeking, seductive behaviour, labile shallow emotions
Narcissistic grandiose sense of self-importance, need for
admiration

Cluster C: anxious or fearful
Dependent excessive need to be cared for, submissive, need
others to assume responsibility for major life areas, fear of
separation
Page | 38

Avoidant hypersensitivity to critical remarks or rejection, fears of
inadequacy, inhibited in social situations
Obsessive compulsive preoccupation with orderliness,
perfectionism and control. Devoted to work at expense of leisure,
pedantic, rigid and stubborn. Overly cautious

Management

There is still considerable debate about how personality disorders should
be managed and by whom. A multidisciplinary approach is often essential
as psychological, social and biological treatment modalities all have an
important role.
Psychosocial interventions often include:
Assistance with social problems such as housing, finance and
employment
Supportive psychotherapy, providing an authority figure for
patients in a time of crisis
CBT can target specific symptoms or behaviours e.g. depression,
anxiety, anger or deliberate self harm
DBT was developed to treat borderline personality disorders and
has been shown to reduce parasuicidal behaviour and an
improvement in social and global functioning
Assertive community outreach programmes are often used for
chronic schizophrenia and bipolar patients
Group or individual psychodynamic therapy (discussed earlier)
Therapeutic communities may benefit highly motivated patients
Pharmacological treatments:
Mood stabilisers help with aggression, impulsivity and mood
instability
Antipsychotics help with psychotic symptoms, impulsivity and
aggression
Antidepressants help with OCD and depression
Benzodiazepines use with caution as may lead to dependence and
abuse. Useful to alleviate anxiety or to sedate an acutely agitated or
aggressive patient

Course and Prognosis

Patients with personality disorders often have other psychiatric conditions.
These tend to have a more severe and worse prognosis than if the
personality disorder were not present. Patients with personality disorders,
particularly cluster B, also have a high risk of suicide or accidental death
than the general population.
Half of all borderline personality patients will show clinical recovery at 10-
25 years follow up. Antisocial personality disorders may improve with
time, particularly if they have formed a relationship with a therapist.
Schizotypal and obsessive compulsive personality disorders tend to be
Page | 39

stable over time, although schizotypal patients may go on to develop
schizophrenia.

Somatoform Disorders

These are a collection of mental disorders with features that are
suggestive of physical illness. However there are no detectable organic or
neurophysiological abnormalities to explain these symptoms. Note that
these symptoms are not under voluntary control and occur unintentionally
(unlike factitious and malingering disorders). Somatisation disorder and
hypochondrial disorder are the most common of these disorders.

Somatisation disorder

The main features are multiple, recurrent, frequently changing physical
symptoms. These include but are not limited to:
GI disturbances nausea, vomiting etc
Skin problems itching, burning, numbness etc
Sexual or reproductive problems loss of libido, erectile dysfunction
etc
Urinary problems dysuria, frequency, retention, incontinence
Neurological problems paralysis, visual loss, sensory loss etc
Patients should have numerous symptoms from almost all of these
systemic groups, not just a few isolated symptoms.

ICD-10 suggests the following should be present:
At least 2 years of symptoms with no adequate physical explanation
found
Persistent refusal by the patient to accept reassurance from several
doctors that there is no physical cause for the symptoms
Some degree of functional impairment due to the symptoms and
resulting behaviour

Most of these patients will have had a long history of contact with medical
services and multiple investigations. This can sometimes lead to
iatrogenic disease with explainable symptoms (e.g. adhesions from
exploratory surgery). These patients are also often dependent on many
medications, mainly painkillers and sedatives.

Hypochondrial disorder

In somatisation disorder patients express concern about numerous
physical symptoms, whereas in hypochondrial disorder patients
misinterpret normal bodily sensations and believe that they have a
serious and progressive physical disease.
Patients with this disorder may ask for investigations to definitely
diagnose a specific disease whereas patients with somatisation disorder
Page | 40

will ask for treatment to remove their symptoms. Hypochondrial patients
too refuse to accept reassurance from numerous doctors that they do not
suffer from a serious physical illness.

Body dysmorphic disorder is a variant of hypochondrial disorder where
patients excessively imagine or accentuate a slight defect in their
appearance.

Factitious disorder and malingering

In both these disorders physical or psychological symptoms are produced
intentionally. This can be extensive and even result in the patient taking
medication to mimic symptoms. In factitious disorder (Munchausens
syndrome) patients are focused on the gain of the sick role. This care
seeking behaviour is often a sign of psychological distress. Malingering
patients on the other hand are focused on the secondary external gain of
being diagnosed with a disease. This includes medication, benefits,
avoiding prison or military service etc. Munchausens syndrome can also
be by proxy, i.e. a parent poisons their child so they can take care of
them.

Epidemiology and aetiology

Somatisation disorder: 0.2-2% lifetime prevalence with usual onset
before 25, often in adolescence. Far more common in women (10:1)

Hypochondrial disorder: 1-5% lifetime prevalence with age of onset
usually in early adulthood. This occurs equally in men and women.

The aetiology is poorly understood although episodes commonly follow
the appearance of stressors. Somatisation disorder may, in part, be due
to genetics as up to 1/5 of sufferers 1
st
degree female relative also have
the condition.

Course and Prognosis

Both disorders tend to have a chronic episodic course with symptoms
often exacerbated by stress.

Treatment

Medication will only help treat symptoms to which the patient has an
underlying condition, such as anxiety disorder. The most effective
strategy to help patients is to make appointments at fixed intervals rather
than seeing patients when requested. Limit special investigations and
medications unless really necessary. Help patients to think in terms of
Page | 41

coping with their problems rather than curing them. Finally try to involve
other family members in their care.




4. An awareness of the risk factors and principles of acute management
for suicide, self harm, neglect and harm to others

5. An awareness of the interaction between crime, the criminal justice
system, psychiatric disorders and psychiatric services

6. Recognise and explain the interaction between physical conditions and
psychiatric symptoms


Liaison Psychiatry

1. Recognise the psychopathology of common psychiatric disorders

2. Produce a differential diagnosis for a psychiatric presentation

3. Justify the selection of appropriate investigations for common
psychiatric scenarios

4. Knowledge of the physical, psychiatric and social consequences of
common psychiatric disorders, including stigma

5. A basic understanding of the importance of therapeutic engagement,
including factors which may affect engagement


Eating Disorders

1. A basic understanding of the structure and delivery of psychiatric
services in the UK

2. Knowledge of clinical presentation, including an understanding of the
ICD-10 diagnostic criteria, of common psychiatric disorders

Weight loss can be deliberately intended or occur secondary to a
consequence of a medical conditions, psychiatric illness or use of a
substance. Two syndromes characterised by conscious and deliberate
attempts to reduce body weight are anorexia nervosa and bulimia
nervosa.

Anorexia nervosa and bulimia nervosa
Page | 42


The psychopathology in these two conditions takes the form of an
overvalued idea and is characterised by a dread of fatness resulting in
patients imposing a low target weight. This can be achieved through poor
calorific intake, self-induced vomiting, excessive exercise or the use of
drugs.

Anorexia: body weight maintained at least 15% below normal or a BMI
below 17.5kg/m
2
. There is also evidence of generalised endocrine
disturbances i.e. amenorrhoea in post-menarchal women, loss of sexual
interest, raised GH and cortisol, reduced T3. Pubertal events may be
delayed or arrested in certain age groups.

Bulimia: patients usually have a normal body weight. The characteristic
feature is a preoccupation with eating and an irresistible craving for food
that results in binge eating. This is associated with a feeling of lack of
control and inevitably feelings of shame and disgust. To counteract this
patients engage in purging (vomiting, laxatives and diuretic use), fasting
or excessive exercise. Russells sign (calluses on the back of hands when
the hand has been used to induce vomiting).

ICD-10 criteria for anorexia and bulimia nervosa
Anorexia: all of the following
Low body weight (BMI<17.5)
Self-induced weight loss
Overvalued idea
Endocrine disturbances (failure to make expected development if
prepubertal)

Bulimia: all of the following
Binge eating
Methods to counteract weight gain
Overvalued idea

Other symptoms and complications

Patients often complain of a low mood and anxiety. This may be
surrounding eating but can often be generalised. If these symptoms are
severe enough then they can be said to be co-morbid to the eating
disorder.

Complications: There are many, many complications related to starvation
and vomiting. Perhaps the one worth remembering is hypokalaemia with
repeated vomiting which can be life threatening. This should be treated
gradually and the patient should be encouraged to eat potassium rich
foods i.e. bananas.

Page | 43

Differentials

Almost any medical condition may lead to weight loss so this should be
considered before considering anorexia or bulimia. Other important
conditions are depression, OCD, psychotic disorders, dementia and
alcohol or substance abuse.

Epidemiology and aetiology

Both conditions have a female to male ratio of 10:1. Bulimia (3-5%)
tends to be more common than anorexia (1%) with an incidence of 12.2
per 100,000 compared with 4.2 per 100,000. Anorexia tends to onset in
mid to late adolescence and bulimia onsets slightly later at late
adolescence to early adulthood. Social economic class is no longer
thought to play a large role.

No cause for either anorexia or bulimia has been identified also both
biological and psychosocial factors have been implicated.

Genetics: Twin studies have shown higher incidences in monozygotic
twins. First degree relatives also have a higher incidence of eating
disorders as well as mood disorders. Neurotransmitter levels are also
thought to play a part as serotonin is thought to suppress food
consumption and some anorectics have been shown to have increased
concentrations.

Environment: Western culture undoubtedly plays a big part in both
conditions. With anorexia it is also thought that families, who are
overprotective, over involved, avoid conflict and are resistant to change,
may be at risk. Other theories suggest that sexual maturity presents a
conflict to anorectics so they avoid menstruation to stop a change in body
shape. With bulimia it is clear that a past history of dieting increasing the
risk of developing bulimia 8 fold. Perfectionism, low self-esteem, alcohol
abuse, substance abuse, personality disorders and depression are all
associated conditions.

Management

Anorexia: These patients are the hardest to treat due to their
ambivalence towards treatment coupled with the consequences of
starvation (poor concentration, lethargy, depression).
The first option is to educate patients about nutrition and
monitoring of weight (most useful in those who only diet
excessively). Their weight can be regularly monitored and self help
groups may be useful.
The preferred treatment is some form of brief outpatient
psychotherapy with the encouragement of family involvement.
Page | 44

Some of these options are: psychoeducation about nutrition and
weight (advice, education motivation), nutritional management and
weight restoration (negotiate target weight, eating plans, teaching
shopping and cooking skills), CBT (20-24 session exploring issues of
self control, low self-esteem and perfectionism, IPT (improving
social functioning and interpersonal skills), family therapy (affective
if living with family and onset before 18) and psychodynamic
psychotherapy (reserved for specialists in eating disorders).
There should be a low threshold for referral to a specialised eating
disorder unit, especially with patients who are resistant to out-
patient treatment and who have severe anorexia or poor prognostic
factors (long duration of illness, late age of onset, very low weight,
associated bulimic symptoms, personality difficulties, poor family
relationship, poor social adjustment).
Hospitalisation may be considered with very low weights
(BMI<13.5), rapid weight loss, electrolyte abnormalities
(particularly sodium and potassium), and syncope. Occasionally it
may be necessary to treat patients against their will and includes
nasogastric or IV feeding.
The use of medication is limited and special care should be taken in
patients with a very low weight. SSRIs may be useful for treating
co-morbid depression and OCD. Fluoxetine may be helpful in
maintaining weight gain and preventing relapse.

Bulimia: patients with bulimia tend to be more motivated to improve and
are usually a healthy weight. Treatment is mostly psychological and
ranges from psychoeducation, self help groups and manuals in mild cases,
to CBT and IPL in more serious cases. TCAs and SSRIs (fluoxetine 60mg)
have been shown to reduce bingeing and purging behaviours but
psychotherapy remains the treatment of choice. Co-morbid substance
abuse and depression are common so should be managed.

Prognosis

Anorexia: up to 50% of patients recover and return to a normal weight,
eating and menstruating. 25% of patients go on to develop normal weight
bulimia. A third of all patients fail to recover and the mortality is over
10% (the highest of all psychiatric disorders). Half of these deaths are
due to complications of starvation and a third are due to suicide.

Bulimia: the course is also variable but generally better than anorexia
with 50-70% if patients making a recovery after 2-5 years. There is no
increase in mortality. Poor prognostic factors include severe bingeing and
purging behaviours, low weight and co-morbid depression.



Page | 45


3. Knowledge of the physical, psychiatric and social consequences of
common psychiatric disorders, including stigma

4. Knowledge of the treatment strategies for, physical, psychiatric and
social consequences of harmful use of and dependence on alcohol and
other drugs

5. Knowledge of the indications, theories and practical implementation of
psychological interventions


Psychotherapy

1. Knowledge of the indications, theories and practical implication of
psychological interventions

2. Develop a structured management plan for an individual patient with a
common psychiatric disorder


Anxiety Disorders (including OCD)

1. Knowledge of the normal psychological and behavioural responses to
life events

2. Knowledge of the epidemiology, aetiology and prognosis of anxiety
disorders

Epidemiology

The anxiety disorders are the most prevalent of the psychiatric disorders
with a combined 1 year prevalence rate of 12-17%. However anxiety
disorders are generally under diagnosed in primary care or only
recognised years after onset.

Anxiety Disorder One Year
Prevalence
Age of Onset Sex Ratio
Generalised anxiety disorder 2.8% Childhood to late
adulthood
2-3:1
Panic disorder (+/- agoraphobia) 3.9% Late adolescence to mid
30s
2-3:1
Social phobia 3.7% Mid-teens Equal
Specific phobia 4.4% Childhood to
adolescence
2:1
PTSD 3.6% Any age after trauma 2:1
OCD 2.1% Adolescence to early Equal
Page | 46

adulthood

Aetiology

Genetic factors: these are thought to play some role in most anxiety
disorders. Panic disorder and OCD seem to be the most heritable anxiety
disorders with more than 1/3 of those affected having a 1
st
degree
relative who has had the same diagnosis. There is an association between
generalised anxiety disorder and relatives who abuse alcohol.

Biological factors: defects in neurotransmitter systems such as abnormal
receptors may contribute to the development of specific disorders (e.g.
panic disorder and serotonin levels). OCD is associated with
hypersensitivity of some serotonin receptors.

Social and psychological factors: anxiety disorders have been linked to
stressful life events. In PTSD a significant traumatic event is essential to
diagnosis. Psychosocial stressors may also precede the onset of
symptoms in other anxiety disorders. Some psychiatrists believe that
anxiety disorders are predominantly psychological in origin and are a
consequence of inappropriate thought processes and overestimations of
danger (hence why CBT is an effective treatment).
















Above is the proposed vicious cycle in which patients get perpetually
stuck.

Course and prognosis

Prognosis of anxiety disorders varies greatly between individuals.
Generalised anxiety is likely to be chronic, but fluctuating, and often
worse in times of stress.
Page | 47

Up to of panic disorder patients may be symptoms free in 3 years
but 1/3 will have chronic symptoms that are distressing enough to
reduce their quality of life. Panic attacks are central to the
development of agoraphobia which usually develops within 1 year
after onset of recurrent panic attacks.
Social phobia is usually chronic although adults may have long
periods of remission. Life stressors may exacerbate symptoms
Specific phobias as less likely to remit if developed in childhood.
However less is known about this
50% of patients with PTSD will recover fully in 3 months but 1/3 of
patients will have severe-moderate symptoms in the long term. The
severity, duration and proximity of a patients exposure to the
trauma are the most important prognostic indicators.
Patients with OCD often have a chronic fluctuating course with
worsening symptoms during times of stress. About 15% of patients
show a progressive deterioration in functioning.


3. Knowledge of the clinical presentation, including an understanding of
the ICD-10 diagnostic criteria, of anxiety disorder

The experience of anxiety consists of two interrelated components:
thoughts of being apprehensive, nervous or frightened, and the
awareness of a physical reaction to anxiety. The experience of anxiety
may then lead to a change in behaviour and particularly the avoidance of
the real or imagined threat. There are two specific patterns of pathological
anxiety:
1) Generalised anxiety: does not occur in discrete episodes but rather
lasts for hours to days or longer and is mild-moderate in severity. There
is no association with a specific external threat or situation but rather an
excessive worry/apprehension about normal life events,
2) Paroxysmal anxiety: abrupt onset, occurs in discrete episodes and is
pretty severe. In the severest of forms it presents as panic attacks. These
episodes are usually less than an hour in duration, intense and a short
time between onset and peak. These are accompanied by autonomic
symptoms (tachycardia, palpitations etc) which may lead the patient to
think they are dying and so the vicious cycle repeats. This classification
can be further divided into those episodes without a stimulus (panic
disorder) and episodes with an external threat (phobic disorders).

Anxiety disorders

Phobic disorders: associated with a prominent avoidance of a feared
situation which can take the form of a panic attack:

Agoraphobia: the fear of public places or crowded spaces where
escape is not easy, especially if concerned about having a panic
Page | 48

attack. There is a close relationship between this and panic disorder
and 95% of patients with agoraphobia may have/had panic
disorder.

Social phobia: the fear of situation where the patient may come
under scrutiny by others leading to their humiliation or
embarrassment. This can also take the form of an isolated fear such
as public speaking.

Specific phobias: fear of certain situations. The following are the
most common in order of decreasing prevalence situational,
natural environment, blood/medical, animals, others (choking,
illness, AIDS etc)

Non-situational anxiety disorders: anxiety symptoms that are not
restricted to any specific situation or circumstance:

Generalised anxiety disorder: excess worry about minor matters on
most days for about 6 months. The ICD-10 criteria suggests three
keys elements apprehension, motor tension and autonomic over
activity.

Panic disorder: panic attacks that occur at random and are not
restricted to any particular situation. These are so distressing that
patients often develop a fear of having these attacks. Between
attacks patients are relatively free of anxiety.

Other psychiatric conditions: anxiety can occur secondarily to many
psychiatric conditions including anorexia (fear of weight gain),
somatisation, hypochondria (fear of serious illness), delusional
beliefs, depression, OCD. It is also worth noting that depression and
anxiety are linked and either one can lead to the other. It has also
been suggested that these are aetiologically related. Therefore it is
vital to consider which of these conditions came first and treat
appropriately.

There are a huge number of medical conditions and substances that can
lead to anxiety. These should be ruled out before deciding on a
psychological diagnosis.

OCD

Obsessions: involuntary thoughts, images or impulses which are
recurrent, intrusive, unpleasant and distressing. They enter the mind
against consciousness resistance and are recognised as being a produced
of the patients own mind.

Page | 49

Compulsions: repetitive mental operations or physical acts that the
patient feels propelled to perform to reduce anxiety through the belief
that something terrible will happen if they do not. These are not
realistically connected to the event or are ridiculously excessive. They are
experiences as unpleasant and serve no purpose except to decrease
anxiety.

ICD-10 criteria are as follows:
Obsessions or compulsions must be present for at least 2 successive
weeks and are a source of distress or interfere with the patients
functioning.
They are acknowledged as coming from the patients own mind
The obsessions are unpleasantly repetitive
At least one thought or act is resisted unsuccessfully (chronically
the patient may no longer resist)
A compulsive act is not in itself pleasurable (excluding relief of
anxiety)

Obsessions and compulsions can be features of several other psychiatric
disorders so these should be ruled out before giving a diagnosis of OCD.
These included:
Depression
Other anxiety disorders
Eating disorders
Schizophrenia
Habit and impulse control disorders
Anankastic personality disorder
Hypochondria

Depression should always be considered with obsessions or compulsions
as over 20% of depression patient have these symptoms and which
resolve with treatment. Over 2/3 of patients experience a depressive
episode in their lifetime.

Management and Treatment

Medication

SSRIs are considered first line treatments for most anxiety disorders due
to their proven efficacy and tolerable side effect profile. Venlafaxine also
has proven efficacy in generalised anxiety disorder. TCAs are considered
second line due to their less tolerable side effect profile. Clomipramine
(TCA) has proven efficacy in OCD.
Restlessness and an initial increase in anxiety may occur in the first few
days of using an SSRI or TCA which can hamper compliance. The
anxiolytic effects of benzodiazepines may be useful in the first few weeks
Page | 50

of treatment as their effects are immediate. However these should only
be used acutely due to the risk of addiction.
MAOIs are effective but are not considered first line due to their side
effects and interactions with other drugs and food.

Psychological

CBT is proven in most anxiety disorders and often has a synergistic effect
with medication. It is first line for specific phobias which may involve
systematic desensitisation, flooding or modelling. CBT may also be useful
in panic disorder to help break the cycle that is demonstrated in the
diagram above. Other options include supportive, psychodynamic and
family therapies. Counselling may be useful in those experiencing
stressful life events.

Anxiety disorder Pharmacotherapy Psychotherapy
Generalised 1
st
line: SSRI/SNRI
2
nd
line: TCA
Treatment resistant: benzodiazepines
CBT
Psychodynamic
Relaxation
Panic/agoraphobia 1
st
line: SSRI
2
nd
line: TCA
Treatment resistant: MAOIs,
benzodiazepines, SNRI
CBT
Social 1
st
line: SSRI
2
nd
line: MAOI
Treatment resistant: benzodiazepines, SNRI,
MAOIs
CBT
Specific Not standard treatment CBT
OCD 1
st
line: SSRI
2
nd
line: Clomipramine (TCA)
Treatment resistant: antipsychotics
CBT
Family therapy
PTSD 1
st
line: SSRI
2
nd
line: TCA
Treatment resistant: MAOI
Desensitisation
CBT
Psychodynamic



4. Knowledge of the physical, psychiatric and social consequences of
anxiety disorders

5. Knowledge of the treatment strategies for, physical, psychiatric and
social consequences of harmful use of dependence on alcohol and other
drugs

6. Knowledge of the indications, mechanism of action and side effects of
antidepressants and benzodiazepines

Page | 51

The following section will focus on anxiolytics and hypnotics as
antidepressants have already been covered.

Hypnotic drugs induce sleep whereas anxiolytic drugs help reduce
anxiety. However this differentiation is not particularly useful as hypnotic
drugs at low doses help reduce anxiety and anxiolytic drugs at high doses
help induce sleep. Most of these drugs can result in tolerance, dependent
and withdrawal symptoms so care is needed. Alcohol use in combination
with these medications will have an additive affect. The most important
medication in this group is the benzodiazepine class.

Benzodiazepines are classified by their length are action, strength and
route of administration:

Drug Dose equivalent
to 5mg diazepam
Length of action Half-life Route of
administration
Temazepam 10mg Short 11h Oral
Oxazepam 15mg Short 8h Oral
Lorazepam 0.5mg Short 15h Oral, IV, IM
Chlordiazepoxide 15mg Long 100h Oral
Diazepam 5mg Long 100h Oral, PR, IV

Mechanism of action

Benzodiazepines potentiate the action of GABA, the main inhibitory
neurotransmitter in the brain. They bind to specific receptors on GABA
A

which results in an increased affinity of the complex for GABA. This
results in an increase of chloride ions flowing into the neuron, thereby
hyperpolarising the post-synaptic membrane. This makes them effective
hypnotics, anxiolytics, anticonvulsants and muscle relaxants.

Indications

The indications include insomnia, anxiety, alcohol withdrawal (especially
Chlordiazepoxide), akathisia (inner restlessness), acute mania/psychosis
(sedation), epilepsy, seizures etc.

Side Effects

Avoid driving or operating machinery due to drowsiness, ataxia and
reduced coordination
They depress respiration so use with caution in COPD
Risk of dependence, especially with prolonged use and shorter
acting formulations

Other options

Page | 52

Short acting hypnotics: zopiclone, zolpidem and zaleplon also act on
the benzodiazepine receptor, have a short half life and do not cause
a hangover
Buspirone: a 5-HT
1A
receptor agonist that is useful in treating
generalised anxiety disorder. Response may take up to two weeks
Sedating antihistamines: diphenhydramine (nytol) is available OTC
for insomnia but their long duration can cause drowsiness the next
day
Clomethiazole, meprobamate and chloral hydrate are no longer first
line sedatives/hypnotics due to their adverse effects



7. Knowledge of the indications, theories and practical implementation of
psychological interventions

8. Recognise the psychopathology of common psychiatric disorders


Child and Adolescent Psychiatry

1. An awareness of the assessment and treatment strategies for common
psychiatric disorders in children and adolescence, including how these
strategies may vary from those employed in working age populations

I will include learning disabilities and adolescent psychiatry in this section
as the objectives are basically the same.

Assessment

This assessment section is generalised to most conditions that affect
children and adolescents. The following should be considered when
assessing someone from this age group:
It is often useful to first interview the parents with/without the child
present to obtain a list of current concerns as well as a complete
psychiatric, neurodevelopmental, educational and medical history.
This also allows for an indirect evaluation of the parents
personalities, marital relationship and style of parenting which often
gives a different perspective to understanding the context of the
presenting complaint.
An interview with the child will usually follow although the
information gathered here will usually depend on the age of the
child. Although younger children may not be able to articulate
themselves, it is often useful to observe them in a play situation.
Obtaining collateral information is extremely important to
understanding the development of the presenting complaint as well
as the childs premorbid functioning. This will include academic,
Page | 53

educational or psychological reports as well as discussions with
teachers and other agencies involved.
Finally further information can be gathered by structure and semi-
structured interviews as well as parent/teacher rating scales.

Classification

Disorders of children and adolescence are divided into four broad
categories which are:
1) Mental retardation (learning disability)
2) Developmental disorders (specific and pervasive)
3) Acquired disorders with onset usually in childhood or adolescence
4) Acquired adult disorders with onset in childhood or adolescence

Learning Disability

This condition describes the failure to develop a normal level of cognition
rather than the loss of it, such as in dementia. Cognition is measured by
IQ (intelligence quotient) and a value <70 (2 standard deviations below
the mean) is said to be sub average. The problem with this scale is that it
does not take into account factors such as sociocultural background,
native language as well as sensory, motor or communication handicaps
which may lead to a falsely low score. Therefore a learning disability
should not be diagnosed if there is no evidence of significant impairment
in adaptive functioning (communication, self care, social skills, academia
etc).

Classification and clinical features

ICD-10 specifies learning disabilities as mild, moderate, severe and
profound according to intellect and adaptive impairment. There may also
be clinical features of the causative process, e.g. cardiac septal defects in
Downs syndrome. Often other features include aggression, self-injurious
behaviour, repetitive stereotypical motor movements and poor impulse
control.
Mild (85%) IQ 50-69, usually capable of unskilled or semi-skilled
manual labour and may be able to live independently
Moderate (10%) IQ 35-49, language, self care and
comprehension are limited and usually needs supervision. May be
able to do some practical work with supervision
Severe (3-4%) IQ 20-34, needs substantial care, limited motor
skills and speech. Capable of only very basic self care
Profound (1-2%) IQ<20, severely limited in ability to understand
or comply with requests or instructions. Little or no self care and
often need residential homes.

Epidemiology and aetiology
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The prevalence of mental retardation in the general population is about 1-
2% with a male to female ration of 1.5:1. 85% of these cases are
classified as mild.
In 30-40% of cases no clear aetiology can be determined and these
patients may simply represent the lower end of the normal distribution
curve for intellectual functioning. However, in patients with severe or
profound learning disabilities it is likely that there is a specific cause.
There are a huge number of causes of mental retardation, too many to
list. However some of the major categories and culprits are as follows:
Genetic downs, fragile x, prader-willi
Prenatal CMV, rubella, toxoplasmosis, syphilis, VZV, HSV, AIDS,
substance abuse, pre-eclampsia
Perinatal Birth trauma, hypoxia, kernicterus
Environmental poor, socioculturally deprived, neglect,
malnutrition, abuse
Psychiatric pervasive developmental disorders
Medical conditions meningitis, encephalitis, head injury, toxins

Management and prognosis

Since learning disabilities cannot be cured in most cases, it is important to
focus on prevention. Such steps include improved perinatal and child
healthcare, early detection of metabolic abnormalities, genetic counselling
and the option of therapeutic abortion.
Although there is no cure, adaptive functioning can be improved with
comprehensive educational and vocational programmes, family education
and support, behavioural therapy, medication in some cases (for
aggression, destructive behaviour antipsychotics, benzodiazepines,
lithium and carbamazepine), appropriate residential placement and
treatment of co-morbid psychiatric and medical conditions.

Developmental Disorders

There are two main types: specific and pervasive developmental
disorders.

Specific developmental disorders refer to a disturbed acquisition of a
specific cognitive or motor function during development e.g. language,
reading, spelling, arithmetic etc. Other areas of cognitive functioning are
average or even above average. These disorders are not simple the
consequence of a lack of opportunity to learn, sensory impairment or
neurological disease but are thought to arise from specific biological
abnormalities in cognitive processing. Compared with mental retardation
these patients have less difficulty with overall social and personal
functioning although teasing and school problems may cause some
emotional or behavioural problems.
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Pervasive developmental disorders are characterised by a severe
impairment in social interactions and communication skills, and restricted,
stereotyped interests and behaviours. These behaviours usually affect all
areas of a patients functioning and are evident within the first few years
of life. They are often associated with mental retardation but this is not
necessary for a diagnosis. The emphasis is on deviant behaviour
irrespective of intellectual functioning. These disorders include autism,
asperges and retts syndrome as well as childhood disintegrative disorder.

Autism

Characteristic features that manifest within the first 3 years of life
include:
1) Impairment of social interaction poor eye contact, facial expressions,
failure to share and enjoy peer relationships
2) Impairment in communication poor spoken language, extreme
difficulty initiating and sustaining conversation, lack of imaginative play
3) Restricted, stereotyped interests and behaviours intense
preoccupation with interests such as dates, phone numbers, timetables
etc, inflexible adherence to routines and rituals, repetitive motor
movements such as clapping and an unusual interest in parts of hard or
moving objects.

Patients may also exhibit behavioural problems such as aggression,
impulsivity and self injurious behaviour. Although autistic children can be
of normal intelligence, 75% have significant mental retardation. Epilepsy
may develop in about 25-30% of cases.

Epidemiology and aetiology

Prevalence of autism is about 0.05% in the general population with a
male to female ratio of 3-5:1 but females are more seriously affected. The
exact cause has not been clarified but it is clear that genetic, prenatal,
perinatal and immunological factors are all implicated. Phenylketonuria,
tuberous sclerosis and congenital rubella are associated conditions. There
is no good evidence that the MMR vaccine results in autism.

Management and prognosis

Prognosis is generally poor with only 1-2% achieving full independence
and 20-30% of patients achieving partial independence. The best
prognostic factors are an IQ above 70 and good language development by
the age of 5-7. Prognosis is also improved if the home environment is
supportive with good family education and support. The treatment
approach is similar to mental retardation.

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Aspergers Syndrome

This is similar to autism in that there is an impairment of social
interaction coupled with restricted, stereotyped interests and behaviours.
However the difference is that there is no abnormalities in language
acquisition and ability or in cognition development and intelligence. This
syndrome is more common in boys and schizoid and Anankastic
personality traits are common. This disorder is on the autistic spectrum.

Retts syndrome

Almost only ever seen in girls and is characterised by normal
development at birth up to around 5 months. This is followed by a
progressive and destructive encephalopathy from 6 months to 2 years of
age. This leads to a loss or lack of language development and loss of fine
motor skills. After a decade most girls are wheelchair bound, have
incontinence and profound muscle wasting plus rigidity. They have almost
no language ability.

Child disintegrative disorder (Hellers syndrome)

This disorder is more common in boys and is characterised by around two
years of normal development followed by a loss of previously acquired
skills (language, social, adaptive, bowel and bladder control, and motor
skills) before the age of 10. It is also associated with autism like
impairment of social interaction and repetitive stereotyped interests and
mannerisms.

Acquired Disorders

These are disorders that are effective superimposed on a relatively
normal developing child, hence if the illness was removed than a
relatively normally developed child would remain. They tend to follow a
fluctuating course and are often treatable. These disorders can be further
divided into those specifically developing in childhood and those that are
adult psychiatric disorders that have a childhood onset.

Acquired disorders with onset usually in childhood or adolescence

ADHD or hyperkinetic disorder

Diagnosis and clinical features: usually has its onset before the age of 6-7
and is characterised by impaired attention or hyperactivity or impulsivity.
Impaired attention includes difficulty sustaining attention in work or
play, not listening when being spoken to and being highly
distractible.
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Hyperactivity includes restlessness, fidgeting, running and jumping
around in inappropriate situations, excess noisiness and difficulty
engaging in quiet activities. They also often interrupt others, cannot
wait their turn and may prematurely blurt out answers to questions.

It is important that these symptoms are evident in more than one
situation i.e. at school and at home, and should be present for at least 6
months. It is also important to distinguish ADHD from age appropriate
behaviour in young active children. Other aspects should be considered to
explain the behaviour such as is the child in a class above or below their
level of intellect and are there concurrent mental illnesses such as
depression.

Epidemiology and aetiology

The prevalence in the USA is 3-7% in school aged children compared to
only 1% in the UK, perhaps due to narrower diagnostic criteria. The male
to female ration is 3-9:1 and causes are not yet known, although genetic,
dietary and psychosocial factors as well as brain damage have all been
implicated.

Management and prognosis

Pharmacological: CNS stimulants such as methylphenidate (Ritalin)
and dexamphetamine have been shown to be highly effective in
of children, producing increased concentration and academic
efficiency. Antidepressants and some antipsychotics are second line.
Psychotherapy: behavioural modification and family education are
important. Permissive parents are not helpful in this situation.
Improvements usually occur with development and remission of
symptoms usually occurs between the ages of 12 and 20, although 15%
of patients have symptoms persisting into adulthood.
Unstable family dynamics and coexisting conduct disorder are associated
with a worse prognosis.

Conduct disorder

This occurs usually before the age of 18. It mostly affects boys by the age
of 10-12 and girls by 14-16. This disorder is characterised by the
repetitive and persistent pattern of aggression to people and animals,
destruction of property, deceitfulness or theft and major violations of age
appropriate societal expectation or rules e.g. truancy.
Aetiological factors include genetics, parental psychopathology, abuse,
neglect, education and socioeconomic status. It affects 5-15% of
adolescent boys and 2-10% of girls with a female to male ratio of 3-12:1.
Many improve whilst some go on to develop an antisocial personality
disorder and substance related problems.
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Management strategies include behavioural, cognitive, family and group
therapies. Opposition defiant disorder describes a pattern of defiant and
hostile behaviour that does not violate the law or basic rights of others.

Emotional disorders

These disorders revolve around anxiety and depression and seldom
persist into adult life and tend to have a good prognosis. The treatment of
these disorders is focused on behavioural and family therapy.
Such disorders include:
Separation anxiety normal in 6 months to 2 years
Phobic anxiety
Social anxiety normal between 8 months and 1 year
Sibling rivalry normal immediately after birth
These disorders are diagnosed when the response seems exaggerated.

Others

There are many other disorders including elective mutism, tic disorder,
non-organic enuresis and non-organic encopresis which will not be
covered here.

Adult disorders with onset in childhood

This is the final classification of disorders and includes all psychiatric
disorders previously discussed. The diagnostic criteria are essentially the
same as they are for adults.

Child abuse

This is vital to look out for and may take the form of sexual, physical and
emotional abuse, neglect or deprivation. These children may present with
failure to thrive, depression, anxiety, aggression, precocious sexual
behaviour, PTSD and suicidal behaviour. They are also at an increased
risk of developing most of the psychiatric disorders covered. A low
threshold for referral to social services should be had if suspicions are
raised.
Risk factors include:
Parental/environmental factors Child factors
Parents who were abused
Parental substance abuse
Parental mental illness
Step-parent
Young, immature parents
Parental criminality
Poor socioeconomic status
Overcrowding
Low birth weight
Early maternal separation
Unwanted child
Mental retardation or disability
Challenging behaviour
Hyperactivity
Excessive crying
Page | 59







2. Produce a differential diagnosis for a psychiatric presentation


Learning Disabilities

1. Knowledge of the definition, aetiology and assessment strategies for
people with learning disabilities

2. Produce a differential diagnosis for a psychiatric presentation


Adolescent Psychiatry

1. An awareness of the assessment and treatment strategies for common
psychiatric disorders in children and adolescence, including how these
strategies may vary from those employed in working age populations

2. Produce a differential diagnosis for a psychiatric presentation


Exam Preparation

1. Overview of the knowledge and skills required to practice psychiatry as
an F1 doctor


Substance Misuse

1. A basic understanding of the structure and delivery of psychiatric
services in the UK

2. Knowledge of the clinical presentation, including an understanding of
the ICD-10 diagnostic criteria, of common psychiatric disorders

3. Knowledge of the physical conditions that present with psychiatric
symptoms, including appropriate investigations for these conditions

4. Knowledge of the treatment strategies for, physical, psychiatric and
social consequences of harmful use of and dependence on alcohol and
other drugs

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5. Justify the selection of appropriate investigations for common
psychiatric scenarios

6. Reflect on the impact of a patients, carers or colleagues actions on
ones own emotional and behavioural response


Mental Health Act

1. An awareness of the ethical and legal principles in clinical practice,
including the mental health act

The England and Wales mental health act of 1983 provides a legal
framework for the detention and care of mentally disordered patients in
hospital. It is primarily composed of four parts:
1) The application and extent of the act plus a definition of mental
disorder
2) Compulsory admission to hospital and guardianship
3) Patients concerned with criminal proceedings
4) Consent to treatment
Note dependence on drugs and alcohol, promiscuity, sexual deviancy or
immoral conduct alone is not evidence of a mental disorder

Part 1

Here are the four types of mental disorder under which individuals may be
detained:
Mental illness: not defined by the MHA but left as a matter of clinical
judgement. It should be of a degree as to warrant detention in the
interests of health, safety or protection of others
Mental impairment: a state of arrested or incomplete development
of the mind which includes significant impairment of intelligence and
social functioning and is associated with abnormally aggressive or
seriously irresponsible conduct
Severe mental impairment: as for above but with severe
impairment of social functioning and intelligence
Psychopathic disorder: a persistent disorder or disability of mind
(may or may not include a significant impairment of intelligence)
which results in abnormally aggressive or seriously irresponsible
conduct

Part 2

This second relates to compulsory admission to hospital. The usual
sequence of events for section 2 or 3 is as follows:
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An approved social worker (ASW) or nearest relative will make an
application for assessment after having seen the patient within the
last 14 days
The application must then be supported following an assessment
and recommendation of two doctors, one of whom should be section
12 approved. It is also recommended that one doctor has had
previous acquaintance with the patient (usually GP)
Patients are informed of the section and their rights, and may apply
to have their case reviewed by mental health review tribunal or
hospital managers
Patients can be discharged from their section by the: responsible
medical officer, hospital manager, mental health tribunal or nearest
relative (the last one may be blocked by psychiatrist and 72 hours
notice is needed).
Patients can be granted section 17 leave from the hospital for a
specific amount of time with certain attached conditions.

Informal admission is applied to patients who are not detained on section
but have agreed to voluntary admission (usually about 90% of patients).

The following is a summary of the important sections that need learning:

Section 2: 28 days compulsory detention for assessment and may be
converted to a section 3. Application is by an approved social worker or
nearest relative and but be approved by two doctors, one who is section
12 approved.

Section 3: 6 months compulsory detention for treatment, usually when
the diagnosis and treatment response is established. This can be
extended later. An ASW or nearest relative must apply and two doctors
should approve it (one with section 12 approval)

Section 4: 72 hours emergency admission to hospital for assessment
when there is not time to wait for a section 2. Applicants are an ASW or
nearest relative and only one doctor is needed to approve it.

Section 5(2): 72 hours detention of a hospital in-patient who is
receiving any form of treatment in order to give time to convert to a
section 2/3. The doctor responsible for their care usually does this.

Section 5(4): 6 hours urgent detention of an in-patient receiving
treatment for a mental disorder when a doctor is unable to attend. A
registered nurse trained in mental health may do this.

Part 3

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This related to mentally ill patients involved in criminal proceedings or
under sentence. The sections relating to this are 35, 36, 37 and 41.

Part 4

This section covers consent to treatment and the details of what can be
imposed on a patient. Patients on long term treatment orders (section 3)
may be treated with psychiatric medication for 3 months with or without
their consent. However, after 3 months and in other special cases, an
extra section is required to continue treatment.
These circumstances include section 57 and 58 that require the patients
consent and a second opinion (use of ECT, psychosurgery, surgical
implants and a further 3 months of treatment).

Note that in circumstances where urgent treatment is required to save a
patients life then the second opinion can be waived. This, for example,
may be done when emergency ECT is use on a patient who is not eating
or drinking.

Other useful sections to remember include:
Section 135 an ASW can apply to a magistrate for a warrant to
allow police to enter and remove someone with a mental disorder
from their home and transfer them to a place of safety.
Section 136 police who find a person in a public place appearing
to suffer from a mental disorder may remove him/her to a place of
safety.
These persons may not be detained for greater than 72 hours until they
have been assessed for section 2/3.

Common law

Common law is law that is based on court decisions (case law) or
customs, rather than laws made in parliament (this is statute law). The
mental health act is an example of statute law whereas instituting life-
saving treatment on an unconscious patient, who is unable to consent, is
justified under common law.


Mental Capacity Act 2005

1. An awareness of the ethical and legal principles in clinical practice,
including the mental capacity act

Consent and Capacity

Adults have the right to refuse treatment, even if this refusal results in
death or serious disability. When patients refuse essential treatment,
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clinicians should ascertain whether they have the capacity to consent to
treatment and have made a free decision without coercion.

Capacity is based on whether a person is able to:
1) Understand the information relevant to the decision
2) Retain the information
3) Use or weight the information as part of the process of making a
decision
4) To communicate their decision (any means)

If any one of these is lacking then it can be said that a patient is lacking
capacity. However it should be noted that a patient only has to retain the
information long enough to make a decision and can forget it after the
decision has been made.

Best Interests

If a patient is judged to lack capacity then they should be treated using
the principles of best interests. This section of the mental capacity act
states what she be taken into consideration when a decision on
someones behalf is made. This includes:
The persons past and present wishes and feelings (also any relevant
written statements from when they had capacity)
Their beliefs and values that would influence the situation if they
had capacity
The wishes of any family and friends or those appointed with power
of attorney.
Whether the patient will regain capacity in the future

Deprivation of liberty safeguards

Within the mental capacity act is a section regarding the deprivation of
liberty. This covers when a patient may or may not have their liberties
removed to protect themselves or others. This principle can be applied to
adults who are lacking capacity and the deprivation of their liberties is in
their best interests.

Testamentary capacity

This is the individuals competence to make a valid will. It should be
determined whether the testator is of sound disposing mind when drawing
up and executing a will. The four criteria that must be fulfilled here are:
1) The testator understands that he is giving his property, after his death
2) He understands the nature of, and is able to recollect the extent of, his
property
3) He is aware of who might have a reasonable claim to his estate

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4) He is able to weight up each relatives claims and make rational
judgements about allocation.

Therefore a patient with dementia or psychosis may still have
testamentary capacity provided that they meet the above criteria.

Fitness to drive

Both mental illness and psychiatric medication can impair fitness to drive.
Therefore the following are important:
It is the responsibility of the driver and DVLA to make the decision
as to whether an individual is fit to keep driving.
It is the drivers responsibility to inform the DVLA of any condition
that may impair their ability
It is the doctors responsibility to advise patients to inform the DVLA
of any condition that may interfere with their driving.
Doctors may have to breach confidentiality to contact the DVLA
medical advisor themselves if the patient fails to do so. The same
applies to patients who are unlikely/unable to contact the DVLA due
to their illness (e.g. dementia or psychosis).


Forensic Psychiatry

1. An awareness of the ethical and legal principles in clinical practice,
including the mental health act

2. An awareness of the interaction between crime, the criminal justice
system, psychiatric disorders and psychiatric services


Organic Psychiatry

1. Knowledge of the physical conditions that present with psychiatric
symptoms including appropriate investigations for these conditions (Im
taking this to mean dementia, delirium and other memory conditions)

A Brief note on memory

It is vital to know how memory is classified to be able to understand the
various psychiatric conditions. It should also be noted that different
doctors may use certain terminology in different ways so this should
always be clarified.

Immediate memory (or sensory memory) This memory is held for less
than a second, is unprocessed and is in the form in which it was perceived
by the sensory organ. This allows the brain time to process the vast
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amount of visual (iconic), auditory (echoic) and touch (haptic) input that
it receives each second.

Short-term memory (primary/working memory) Once immediate
memory is received it may be transferred to a temporary memory store
which has a limited capacity of around 7+/-2 items at a time. This will be
forgotten in 15-30 seconds unless it is rehearsed or converted to long
term memory. A digit span test can be used clinically to test this.

Long-term memory (secondary memory) This store is thought to
probably be limitless in terms of capacity and features a duration of
storage from minutes to decades.

Other forms of memory
Recent
Remote stored many years ago
Explicit/declarative stored material the person is consciously
aware of
Implicit/procedural stored without individuals conscious
awareness e.g. ability to speak

Amnesia This is the loss of the ability to store new memories or recall
old memories. Anterograde amnesia refers to a condition where patients
cannot store new memories from the causing event and onwards. The
ability to retrieve memories before the event remains intact. Retrograde
amnesia refers to a condition where patients cannot recall memories
before the causing event. Storage of new memories is not impaired in
these patients.

Dementia

Epidemiology
The prevalence in the total UK population is around 0.3% but rises
sharply with age. The prevalence over the age of 65 is around 5% and
20% over the age of 80. Senile or late onset dementia is used for patients
over 65 and presenile or early dementia is used for patients at or under
65.
Relative prevalences as follows:
Alzheimers Disease 30-60%
Vascular Dementia 10-30%
Combined alzheimers and vascular dementia 10-30%
Dementia with lewy bodies (DLB) 15%
Frontotemperal dementia (including picks disease) the most
common form of degenerative dementia, after Alzheimers, that
affects middle age, and account for up to 20% of presenile cases.

Aetiology
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Alzheimers disease: can be divided into early and late onset as well as
familial (family affected) and sporadic (family not affected) types. Late
onset is the most common and accounts for around 90%. However it is
important to note that familial does not mean genetic. It could be that
multiple family members have been exposed to something or similar
environmental conditions. The opposite applies for sporadic, i.e. genetics
can play a significant role in development. At present the cause of most
cases is not known but it is thought to be a combination of multifactorial
genetic risk facts and uncertain environmental factors. Increased
production and deposition of B-amyloid appears to be the central
pathological process.

Important factors

Genetics: It is not clear how much genetics contributed to late onset AD
but it is clear that they are the largest single risk factor. Family studies
have shown a threefold increase in risk in first degree relatives of
sufferers. The most important gene is that one that codes for
apolipoprotein E (ApoE) which occurs at three different alleles (so
inheriting more, further increases risk). The gene tends to lead to AD that
develops at an earlier age (still over 65). With early onset AD the main
rare genes are amyloid precursor protein, presenilin-1 and presenilin-2.
These account for 30-50% of cases and are autosomal dominant, usually
presenting between 30 and 60 years of age. As amyloid precursor protein
is on chromosome 21, Downs syndrome adults invariably develop
neuropathological changes similar to AD.

Neurotransmitter abnormalities: Symptoms are thought to be due to a
reducing in brain acetylcholine activity, secondary to degeneration of
cholinergic neurons. Powerful inhibitors of acetylcholinesterase can help
improve symptoms in mild to moderate AD.

Environment: There is no consistent evidence here although aluminium is
related to AD in dialysis patients. Poor education appears to be a risk but
this may be confounded by socioeconomic factors and nutrition. HRT also
appears to be a protective factor.

Neuropathology: Characterised by generalised atrophy of the brain with
widened sulci and enlarged ventricles. Microscopically there may be
intracellular neurofibrillary tangles and extracellular senile plaques
(consisting of B-amyloid cores).

Types of dementia

Vascular: thought to be due to multiple cortical infarcts or many small
infarctions in the white matter due to widespread cerebrovascular
disease. Occasionally vascular dementia can arise from a single infarct. It
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is associated with increasing age and the risk factors are the same as for
CVD (male, smoking, stroke, hypertension, diabetes, MI, carotid stenosis,
valvular disease, hypercholesterolaemia or hypercoagulation disorders).

Dementia with Lewy Bodies (DLB): Little is known about the cause but an
allelic variation on the apolipoprotein E gene may be linked. Lewy bodies
are abnormal proteins aggregated with ubiquitin and alpha-synuclein.
These are the same as found in Parkinsons but in a different location.

Frontotemporal Dementia: The cause here is also unknown but it is
associated with a bilateral atrophy of the frontal and anterior temporal
lobes.

Symptoms and Signs

Dementia is an acquired syndrome characterised by a global impairment
of cognitive function and personality without an impairment of
consciousness. Most cases are chronic and irreversible with a progressive
deterioration in social and occupational functioning. Symptoms should be
present for 6 months before a diagnosis can be confirmed. The following
are general categories of impairment.
Memory impairment This is a common feature with most recent
memories being affected first. As the disease progresses all aspect
of memory are affected, although highly personal information is
retained until very late in the disease. Memory is also essential for
orientation to person, time and place.
Loss of language ability (aphasia) Both receptive and expressive
dysphasias may occur and manifest as difficulty understanding
commands or by vague circumstantial speech. Eventually patients
may exhibit echolalia (repeating what is heard) or palilalia
(repeating their own words), or even becoming mute.
Apraxia lose of ability to carry out skilled motor movements
despite intact motor and sensory function.
Agnosia lose of ability to recognise or identify previously familiar
objects or people despite intact sensory function
Impaired executive functioning Difficulty in planning and
sequencing complex activities.
Personality and behavioural changes May become introverted and
socially withdrawn (family usually notice this first), or hostile,
irritable and socially disinhibited.
Psychiatric symptoms Hallucinations in all sensory modalities
(particularly visual) can occur in 30% of patients. Delusions,
especially persecutory, may occur in up to 40% of patients.
Depression and anxiety may occur in up to 50% of patients and
finally dementia patients are particularly at risk of delirium.
Neurological symptoms 10-20% of patients will experience
seizures in addition to agnosia, apraxia, and aphasia.
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Distinguishing clinical features of the common types

Alzheimers disease: Gradual onset with progressive cognitive decline -
Diagnosis of exclusion.

Vascular Dementia: Focal neurological signs and symptoms, evidence of
cerebrovascular disease/stroke and uneven/stepwise deterioration in
cognitive function

Dementia with Lewy Bodies (DLB): Day to day fluctuations in cognitive
performance, recurrent visual hallucinations, spontaneous motor signs of
parkinsonism, recurrent falls/syncope, transient disturbance of
consciousness and extremely sensitive to antipsychotics.

Frontotemporal Dementia: Early decline in social and personal conduct,
early emotional blunting, attenuated speech output, early loss of insight
but relatively sparing of other cognitive functions.

Potential Causes

There is a huge list of potential causes but the major classes are:
Neurodegenerative AD, DLB, Parkinsons etc
Vascular dementia
Space occupying lesion
Trauma
Infection CJD, HIV, neurosyphilis etc
Metabolic and endocrine thyroid (high/low), parathyroid
(high/low), liver failure etc
Nutritional thiamine, vitamin B12, folic acid or niacin deficiency
Drugs and toxins alcohol, benzodiazepines, barbiturates, solvents
Anoxia
Inflammatory disorders MS, SLE etc
Normal pressure hydrocephalus

Management

There is no cure for any of the neurodegenerative forms of dementia.
Although the prognosis is invariably poor, considerable improvements in
the patients quality of life are possible through various psychosocial and
pharmaceutical approaches.
The major management principles are:
1) Treat the underlying cause
2) Treated associated disorders or complications
3) Address functional problems
4) Provide advice and support for carers
5) Symptomatic treatment with cholinesterase inhibitors when indicated
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Management strategies:
Treat the patient in primary care or an outpatient setting until the
final stages of dementia (if possible)
Treat disturbed behaviour with antipsychotics or benzodiazepines.
Psychotic and depressive symptoms may be treated with
antipsychotics and antidepressants. Low doses are essential to
avoid Parkinson like effects in the elderly. These can also worsen
cognitive function. Do not use antipsychotics with lewy body
dementia unless necessary
Cholinesterase inhibitors are licences for patients with an MMSE
above 12. Up to 50% of these patients will show a slower rate of
cognitive decline and even possible improvement.
Memantine is a new drug that has been shown to be effective
(NDMA receptor antagonist) in moderate to severe disease.
Assess ADL scores to help patients retain skills and resources

Course and Prognosis

The course is invariably progressive and fatal. Successful treatment of
medical causes (i.e. hypothyroidism) usually arrests progression rather
than resolving cognitive decline. The duration of survival from time of
diagnosis varies depending on which form of dementia it is:
AD 7 to 9 years
Vascular dementia Usually less than AD
DLB 1 to 2 years
Frontotemporal 8 to 11 years
Huntingtons - 12 to 16 years
CJD 6 to 8 months (new variant is 18 months)

Delirium

Epidemiology
The elderly, infants and young children are particularly at risk of delirium.
The prevalence in hospitalised, medically ill patients ranges from 10 to
30%. Between 10-15% of patients over 65 are delirious on admission and
10-40% develop a delirium during hospitalisation. Dementia patients are
particularly at risk with up to 2/3 of cases of delirium occurring in
dementia patients.

Aetiology
An underlying drug or medical cause is usually identified. The exact
pathophysiological mechanisms for delirium remain unclear but postulated
mechanisms include an interruption in the blood brain barrier or an
alteration in cholinergic and noradrenergic neurotransmitter systems.
Causes may include:
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Intracranial neurodegenerative, space occupying, head injury,
infection, epilepsy, cerebrovascular disorders
Systemic causes Toxic, drugs, poisons, metabolic/endocrine,
nutritional, infections, sepsis and anoxia

Clinical Features
The essential feature is an impairment of consciousness with a reduced
ability to focus or maintain attention. This state tends to develop over a
short period of time and is transient. The following symptoms are the
most prominent:
Impaired consciousness reduced awareness from clouding of
consciousness to coma. Their ability to sustain attention is reduced
and they are easily distractible.
Impaired cognitive function Short term memory and recent
memory are impaired but with relative preservation of remote
memory. Delirious patients are almost always disorientated to time
and often to place but orientation to self is rarely lost. Language
abnormalities such as rambling, incoherent speech and an impaired
ability to understand are common.
Perceptual and thought disturbance perceptual disturbances
ranging from misinterpretations to illusions and hallucinations
(especially visual). Transient persecutory delusions and delusions of
misidentification can occur.
Psychomotor abnormalities patients may be hyper or hypoactive
or fluctuate from one to another. They may also have an enhanced
startle reaction.
Sleep-wake cycle disturbance sleep is characteristically disturbed
and can range from daytime drowsiness and night-time
hyperactivity to a complete reversal of the normal cycle.
Nightmares of delirious patients may continue as hallucinations
after awakening.
Mood disturbances Depression, euphoria, anxiety, anger, fear and
apathy are all common.

Distinguishing Between Delirium and Dementia
Both syndromes have symptoms of memory and cognitive impairment.
However they differ dramatically in cause, management and prognosis.
Therefore it is imperative that the difference between them is
distinguished. The following table summarises some of the main features
of each:
Feature Delirium Dementia
Onset Acute Gradual
Duration Hours to weeks Months to years
Course Fluctuating Progressive
deterioration
Consciousness Impaired Normal
Perceptual disturbance Common Occurs in late stages
Page | 71

Sleep-wake cycle Disrupted Usually normal

Management
Hospitalisation is essential in delirious patients so vigorous investigation
and treatment of any underlying condition may be done. Using the same
members of staff can help reduce confusion/foster trust and this
reassuring presence can often calm distress patients. Visual acuity and
hearing ability should be maximised to avoid misinterpretation of stimuli
and the use of clocks, calendars and familiar objects may be helpful with
orientation. The presence of close family and friends may also help
comfort and orientate them.
Antipsychotics (especially low dose haloperidol) are effective at treating
delirious symptoms, in part due to their sedating qualities and secondly
due to their effects on the dopamine-acetylcholine balance. Sedatives
should be avoided if possible (I know this contradicts the last sentence
but its what the book says! Plus I assume they mean drugs that are
principle sedatives rather than it being a side effect), especially drugs
with powerful anticholinergic properties. Benzodiazepines should be used
with caution as they are less effective than antipsychotics (except in
alcohol/substance induced delirium where they are highly effective).

Course and Prognosis
The average duration is 7 days. In-patients with a delirium have an
increased mortality with elderly patients having up to a 75% chance of
dying during the admission. This in unsurprising due to the serious nature
of the underlying medical conditions.



2. Produce a differential diagnosis for a psychiatric presentation

3. Justify the selection of appropriate investigations for common
psychiatric scenarios


Perinatal Psychiatry

1. A basic understanding of the structure and delivery of psychiatric
services in the UK

2. Knowledge of the epidemiology, aetiology and prognosis of common
psychiatric disorders

Psychiatric considerations in pregnancy

Pregnancy is generally a time of mental well-being and the development
of mental disorders is unusual. Even patients with a pre-existing
Page | 72

psychiatric history have no increase in episodes in pregnancy. However
these facts are not true for the puerperium period (after birth).
There is evidence of an increased incidence of adverse life events in the
weeks and months prior to spontaneous abortion (miscarriage) and at a
month following miscarriage up to 50% of women have a diagnosable
depressive disorder (four times normal) with typical features of
bereavement. However there appears to be no significant increase in the
rates of mental illness following a termination of pregnancy, perhaps since
society is much more accepting now.
When medication is indicated a judgement is needed to regard the risk of
relapse against risk of teratogenic/adverse effects. In pregnancy lithium
and benzodiazepines are probably teratogenic whilst TCAs appear to be
safer. SSRIs have not been shown to have adverse effects and neither do
antipsychotics, although extra-pyramidal side effects may occur in
neonates.

Puerperal Disorders

This is a relatively high risk period for the relapse of pre-existing mental
illness as well as the development of a new mental illness. There are
three main conditions that should be considered when evaluating a
womans psychological symptoms:
Postnatal blues
Postnatal depression
Puerperal psychosis

Postnatal Blues

This is very common condition that occurs in 50% (1 in 2!) postpartum
women. It occurs within the first 10 days post delivery and is
characterised by episodes of weepiness associated with mild depression or
emotional lability, anxiety and irritability that peak between the 3
rd
and
5
th
day. The lack of a link between postnatal blues and life events,
demographic factors or obstetric events suggests an underlying biological
cause (e.g. a fall in progesterone post-delivery). This is a self limiting
condition that usually only requires reassurance. However an apparently
bad case may actually be the onset of postnatal depression.

Postnatal depression

Aetiology: psychosocial factors are strongly linked to PND with recent
stressful life events, lack of a close confiding relationship, a young
maternal age and marital status all implicated. A previous history of
depression, particularly PND or postnatal blues is particularly important.
An obstetric complication during delivery is also a risk factors to those
with a history of depression. Biological factors are less important than in
the other two main conditions.
Page | 73


Epidemiology: The prevalence is around 10% (roughly 1 in 8 women).
This is similar to depression in the general population of women. No
socioeconomic class or parity factors are implicated.

Clinical features: Usually develops within 3 months after delivery and
typically lasts between 2 and 6 months. The symptoms are similar to
normal depressive episodes and include low mood, loss of interest,
fatigability and suicidal ideation. However it should be noted that sleeping
difficulties, weight loss and decreased libido can be normal in the first few
months after delivery. Additional features may include:
Anxious preoccupation with the babies health
Reduced affection for the baby with impaired bonding
Obsessional phenomena which may involves recurrent intrusive
thoughts of harming the baby (ascertain if these are ego-dystonic
or not repulsive thoughts)
Infanticide thoughts that are not experienced as repugnant (ego-
syntonic) and may be seriously entertained. Worryingly they can
also involve a degree of planning.

Management: The treatment of choice is counselling in most cases. In
more severe cases antidepressant medication is necessary. These may be
transferred in breast milk in small quantities but this does not mean
breast feeding must be stopped. Severe PND may require admission to a
mother and baby unit. ECT is highly effective when indicated and usually
results in rapid improvement. An assessment of the infants wellbeing is
vital as part of a comprehensive psychosocial and risk assessment.

Prognosis: Most respond to treatment but should be followed up closely
and may need long term therapy. Women who develop PND without pre-
existing history of depression are at risk of future episodes of PND but not
of non-puerperal depression.

Puerperal Psychosis

These episodes typically have a rapid onset, usually between day 4 to 3
weeks post delivery and almost always within 8 weeks. Initial symptoms
are often insomnia, restlessness and perplexity, later progressing to
suspiciousness and marked confusion with psychotic symptoms. These
can fluctuate dramatically in their nature and intensity over a relatively
short period of time. It is still unclear whether the puerperal psychoses
represent a separate disease entity, a mood disorder with psychotic
features, a schizophrenia episode, an organic psychosis or a combination
of these. However, in 80% of cases the presentation resembles a mood
disorder with delusions and hallucinations.

Epidemiology: Occurs in around 1 in 500 births.
Page | 74


Aetiology: Evidence suggests this disorder is most closely related to
bipolar affective disorder (and probably depression). The relatives of
these patients have a similar incidence of mood disorders as the relatives
of patients with mood disorders. Patients with puerperal psychosis are
also more likely to have a past psychiatric history of a mood disorder or a
family history of mental illness. Psychosocial factors seem to place less of
a role here compared with PND. Occasionally medication and obstetric
complications can be a cause so should be investigated. Other risk factors
include a primiparous mother (having first baby), a previous puerperal
psychosis or a delivery associated with caesarean section or perinatal
death.

Management: Here the assessment of risk of infanticide and suicide on a
mental state examination is crucial. Major concerning symptoms include
thoughts or self-harm or harm to the baby, severe depressive delusions
and command hallucinations. Hospitalisation is invariably necessary and
admission to a mother and baby unit is common. Detention under mental
health legislation may be necessary. Pharmacological treatment is the
same as for other psychotic episodes and may include antipsychotics,
antidepressants and lithium. Benzodiazepines can also be used with
severe behavioural disturbances. Note that, if breast feeding, caution
should be used with medications. ECT can be particularly useful in severe
or treatment resistant cases, irrespective of clinical presentation.

Prognosis: Most cases recover within 3 months (75% within 6 weeks).
There is around a 30% risk of recurrence with future pregnancies. Women
who have both puerperal and non-puerperal depressive or manic episodes
(an established mood disorder) have an 50-85% chance of future
puerperal episodes.

Medication use in breast feeding

TCAs The amount transmitted in breast milk is too small to be
harmful. Low dose amitriptyline appears to be safe
SSRIs Limited information available but the manufacturers advise
caution. Fluoxetine is excreted in very small amounts but has a long
half-life so may accumulate.
Lithium Risk of neonatal lithium toxicity as breast milk contains
40% of maternal lithium concentration,
Antipsychotics Only small amounts are excreted but there is a
possible effect on developing nervous systems. Avoid high doses
due to risk of lethargy in infants. Only use when benefits outweigh
risks.
Benzodiazepines and other hypnotics Avoid. May cause lethargy.


Page | 75


3. An awareness of the risk factors and principles of acute management
for suicide, self-harm, neglect and harm to others

4. Explain the aetiology, bio-psycho-social management plan and
prognosis for common psychiatric disorders to a patient, carer or
colleague


Bereavement and Guided Mourning

1. Knowledge of the normal, psychological and behavioural responses to
life events

Stress

A psychosocial stressor is the term used for any life event, condition or
circumstance that places a strain on a persons current coping skills. What
constitutes stress is entirely dependent on the specific persons ability to
adapt, or respond to a specific life challenge. A persons coping skills will
also vary throughout their developmental life; the death of a distant
relative may affect a middle aged man contemplating his own mortality
more than an invincible adolescent.
Whenever a patient presents with low mood or anxiety you should always
check for possible psychosocial stressors and establish how they
temporally relate to the onset of psychological symptoms. Some
seemingly insignificant stressors may be a significant factor to vulnerable
patients e.g. a change of accommodation for an elderly widow.


2. Knowledge of the clinical presentation, including an understanding of
the ICD-10 diagnostic criteria, of common psychiatric disorders

It is not unusual to have some psychological symptoms after a stressful
or traumatic event/bereavement but in some cases these symptoms may
be in excess of those usually expected and subsequently impair a patients
functioning.
When assessing a patient for a pathological response to a stressful event
it is important to consider two variables:
1) The nature and severity of the event
2) The nature and severity of the patients reaction

Traumatic Stress

This is a stressor that occurs outside of the normal range of human
experience and is of such a magnitude that almost any normal person
would experience it as traumatic. This type of stress occurs in situations
Page | 76

where a person feels that their own, or a loved ones physical integrity is
under serious threat. This includes natural disasters, violent physical or
sexual assault, fatal or near fatal car accident, terrorist attacks, torture or
military combat. Bereavement is a more special case of traumatic stress
that is discussed later.

Depending on the nature of the traumatic event and the vulnerability of
the patient, the following conditions may develop:
1) An adjustment reaction
2) An acute stress reaction or PTSD
3) A dissociative disorder
4) Another major mental illness e.g. depression, anxiety or psychosis

Adjustment reaction

This reaction occurs in response to a wide, non-specific range of
emotional and behavioural symptoms in response to a psychosocial
stressor to which a patient has to adapt/adjust to. This can be to simple
things like moving house or to more severe things such as a traumatic
stressor in an individual who is resilient enough to not develop PTSD.
Symptoms include mild depression and/or anxiety and the feeling of being
unable to cope. Rarely there may also be disturbances of conduct e.g.
increased aggression. This reaction would not occur without the stressor
but a persons personality and vulnerability play a large role in their
response.
A diagnosis is made when an adjustment reaction occurs within 1 month
of a stressful life event and the duration of symptoms do not usually
exceed 6 months. This is a diagnosis of exclusion and is made when
symptoms do not meet the criteria for any other more specific disorder.

Stress reaction

The symptoms of an acute stress reaction occur immediately after or
within a few minutes of a stressor. These usually resolve in a few hours or
within 3 days if the stress is continued/cannot be reversed. Patients will
typically experience an initially dazed state, narrowing of attention,
disorientation and an inability to process external stimuli. This may be
followed by a period of diminished responsiveness or over activity.
Patients may also have amnesia for the episode.

PTSD

The symptoms of PTSD usually develop within 6 months of a traumatic
stressor and include all of the following:
Repetitive re-experiencing of the traumatic event in the form of
flashbacks, hallucinations and illusions and distress caused by
internal and external cues that resemble the stressor
Page | 77

Avoidance of stimuli associated with the stressor, amnesia for
aspects of the trauma as well as emotional numbness and social
withdrawal
Increased arousal insomnia, anger outbursts, poor concentration
etc
Affects sleep nightmares
Perceived life-threatening event

Dissociation

These are disorders that describe a disruption in the integration between
consciousness, memory, identity, perception and movement and is where
a persons behaviour and personality become separated. ICD-10 requires
there to be some evidence of psychological causation in association with
the onset of dissociative symptoms.
Examples include:
Dissociative amnesia memory loss of recent events
Dissociative fugue purposeful sudden travel beyond a persons
normal range where self care and normal social interactions are
maintained
Dissociative stupor psychomotor retardation, unresponsiveness,
mutism, lack of movement
Dissociative convulsions pseudo seizures i.e. not real seizures

Bereavement

This is experienced by almost everyone at some part in their life and is a
normal part of human experience. This is usually after the loss of a loved
one but can also occur in response to other things such as the loss of
health (mental or physical), status, national figures or a pet. There are
five main stages of bereavement that a person can move between before
reaching the final stage (mostly moving between pining and depression).
The stages of bereavement are as follows:
Alarm - A highly stressed emotional state marked by physiological
arousal (increased heart rate and BP)
Numbness - A state of being emotionally disconnected - a form of
self-protection against the acute pain of loss
Pining - A state where the bereaved are constantly reminded of and
preoccupied with the deceased. Marked by pangs of anxiety and
grief. Hypnagogic and hypnopompic Pseudohallucinations and
illusions of the deceased may occur but are transient and always
involve the dead person
Depression and despair - A state where the bereaved have a
depress and irritable mood, thoughts of being 'better off dead' or
that they should have died with the deceased, anhedonia, loss of
appetite and weight, insomnia, impaired concentration and poor
short term memory
Page | 78

Recover and reorganisation Acceptance of loss, return of food,
social and sexual appetite, weight is regained; grief diminishes but
may return for a time at anniversaries of the deceased

Patients who suffer bereavement are at subsequent risk of depression.
The following suggest the development of a major depressive episode:
Guilt about things other than actions taken/not taken by the patient
at the time of a loved ones death
Thoughts of death other than the patient would have been better off
dead or should have died too
Morbid preoccupation with worthlessness
Marked psychomotor retardation
Prolonged and marked functional impairment
Hallucinatory experiences other than the patient thinking that they
are transiently seeing or hearing the deceased

If a bereavement reaction, which is complicated by either a prolonged
duration or an abnormal quality of symptoms, does not meet the criteria
for a depressive episode then a diagnosis of adjustment disorder is made.





Friday Tutorials 2011

1. Carry out a clinical risk assessment on a patient with a common
psychiatric disorder

2. Justify the selection of appropriate investigations for common
psychiatric scenarios

3. Produce a differential diagnosis for a psychiatric presentation

4. Develop a structured targeted management plan for an individual
patient with a common psychiatric disorder

5. Recognise the limits of their own professional competence and seek
appropriate supervision








Page | 79
















































Page | 80

Child Health Topics and Topic Outcomes

Respiratory

Asthma

1. Understand the natural history of asthma during childhood

Asthma is common in childhood and affects 15-20% of children. Diagnosis
can be difficult since approximately half of all children wheeze at some
time during the first 3 years of life. In general there are two patterns of
wheezing: transient early wheezing and persistent and recurrent
wheezing. Asthma often begins as wheezing in infants with respiratory
infections. If these episodes remain mild and infrequent then asthma does
not usually persist into the school years. This is classed as transient early
wheezing and is thought to result from small airways being more likely to
narrow and obstruct due to inflammation and aberrant immune responses
to viral infection. Here a family history of asthma or allergy is not a risk
factor but maternal smoking is.
Recurrent and persistent wheezing on the other hand can affect both pre-
school and school-aged children and may be triggered by many stimuli.
The presence of IgE to common inhalant allergens is associated with
persistence of wheezing beyond the preschool years. This coupled with
evidence of allergy to one of more of these allergens is termed atopic
asthma. The patients have persistent symptoms and decreased lung
function and there is a strong association with other atopic diseases. After
infancy incidence falls to around 100/100,000 where it remains for life.


2. Be familiar with the key features of history and examination that
support a diagnosis of asthma

Asthma should be suspected in children with wheezing on more than one
occasion. The wheeze should be polyphonic and originate from the
airways. This can be described as a whistling to parents as the child
breathes out and its origin can be confirmed by auscultation. Other
features associated with a high probability of asthma include:
Symptoms worse at night and in the early morning
Symptoms that have a trigger i.e. pets
Interval symptoms between acute exacerbation
Personal/family history
Positive response to asthma therapy

On examination the chest is usually normal between attacks although in
long-standing asthma there may be hyperinflation of the chest,
generalised expiratory wheeze and a prolonged expiratory phase. Onset
of the disease in early childhood may result in Harrison sulci (depressions
Page | 81

at the base of the thorax). Signs of other allergic disorders should be
sought including the skin (eczema) and nasal mucosa (allergic rhinitis).
Growth should be plotted although is rarely abnormal. A detailed
examination may reveal clubbing, a wet productive cough or poor growth
and this could indicate a chronic infection such as CF or bronchiectasis. In
practice a diagnosis is made on a history of recurrent wheeze, with
exacerbations usually precipitated by respiratory infections.

Investigations are not usually necessary but skin prick tests, a chest x-ray
and PEFR can all help to exclude other conditions. PEFR can only be
realistically used in children over 5 and will show a diurnal variation
(lower in the morning) as well as a daily variation. A positive response to
treatment will show a 10-15% improvement in PEFR.


3. Be familiar with the other common clinical conditions that can mimic
asthma (gastroesophageal reflux, cystic fibrosis, viral induced wheezing,
bronchiolitis and croup)

Most of these will be mentioned later. Viral induced wheeze is very
common and is thought to affect around half of children up to the age of
3. It is most common in boys and usually resolves around the age of 5,
probably due to an increase in airway size.


4. Be able to manage an acute exacerbation of asthma

Assessing an acute exacerbation is important and the clinical features to
look for are:
Wheeze and tachypnoea (RR>50 in children 2-5 and >30 in children
5) poor guide to severity
Increased tachycardia (>130bpm in children 2-5 and >120bpm in
children 5) better guide to severity
Use of accessory muscles and chest recessions
Marked pulsus paradoxus (difference between SBP on inspiration
and expiration) increase indicates moderate to severe asthma
If breathlessness interferes with talking then severe
Cyanosis, fatigue and drowsiness are all late signs. A silent chest is
an emergency and is a sign that the child is about to arrest.
PEFR and oxygen saturations should also be assessed (<92% in air
is severe)

Management of an acute exacerbation varies depending on the severity of
the attack.

Moderate oxygen saturation >92% and PEFR >50% with no severe
clinical features. Here give a short acting B
2
agonist via spacer, 2-4 puffs
Page | 82

and increasing by 2 puffs every 2 minutes to 10 puffs if required.
Consider oral prednisolone and reassess within 1 hour.

Severe too breathless to talk or feed, use of accessory muscles, oxygen
saturations <92%, RR >50/min or 30/min depending on age, pulse >130
or 120 and PEFR <50%. Oxygen + Give short acting B
2
agonist 10 puffs
via spacer or nebuliser. Oral prednisolone or IV hydrocortisone should be
given and nebulised ipratropium bromide if a poor response. Repeat
bronchodilators every 20-30 minutes.

Life threatening silent chest, poor respiratory effort, altered
consciousness, cyanosis, oxygen saturations <92% and PEFR <33%.
Oxygen + nebulised B
2
agonist plus ipratropium bromide. IV
hydrocortisone should be given and the case discussed with a senior
clinician and the PICU team. Repeat bronchodilators every 20-30 minutes.

If responding continue bronchodilators 1-4 hours prn and discharge when
stable on 4 hourly treatment. Continue oral prednisolone for up to 3 days.


5. Know the details of the drugs used to treat acute and chronic asthma
and understand their mechanism of action

B
2
agonists e.g. Salbutamol and Terbutaline these act on beta
receptors to directly cause bronchodilation. They can be less effective in
very young children as they have fewer active beta receptors.

Anticholinergic bronchodilators e.g. Ipratropium bromide these have a
similar effect to beta agonist but act via a different receptors (the
sympathetic system) to achieve their affect.

Inhaled steroids e.g. Budesonide, Beclometasone, Fluticasone and
Mometasone these are a preventative treatment that act to prevent to
creation of inflammatory proteins and hence reduce any response caused
by the release of IgE or other chemical.

Long acting B
2
bronchodilators e.g. Salmeterol and Formoterol act on
the B
2
receptors for longer than Salbutamol

Methylxanthines e.g. Theophylline a complicated pathway that leads
to the relaxation of bronchiole smooth muscle

Leukotriene inhibitors e.g. Montelukast taken orally in children under
5 instead of a LABA. This drug is an antagonist that blocks the action of
leukotriene and hence reduces the bronchoconstriction otherwise caused
by it.

Page | 83

Oral steroids e.g. Prednisolone same action as inhaled steroids but
more potent and greater systemic effects (and also side effects).

Anti-IgE injections e.g. Omalizumab A monoclonal antibody designed
to target IgE and prevent an atopic reaction


6. Know the 5 steps of the SIGN/NTS guidelines for the management of
asthma

Children 5-12

Step 1 Inhaled short acting B
2
agonist as required
Step 2 Add inhaled steroid 200-400mcg/day
Step 3 Add LABA and assess control. If good then maintain, if
average then continue and increase steroid to 400mcg/day, if no
response then stop LABA and increase steroid to 400mcg/day. If
this is still inadequate then trial leukotriene receptor antagonist or
theophylline.
Step 4 Increased inhaled steroid to 800mcg/day
Step 5 Use daily steroid tablet in lowest dose to give control whilst
maintaining inhaled steroid at 800mcg/day. Also refer to respiratory
paediatrician.

Children under 5

Step 1 Inhaled short acting B
2
agonist as required
Step 2 Add inhaled steroid 200-400mcg/day or leukotriene
receptor antagonist if steroid cannot be used.
Step 3 Consider adding leukotriene receptor antagonist to inhaled
steroid or visa versa. In children under 2 consider moving to step 4
Step 4 Refer to respiratory paediatrician.


7. Be able to assess asthma control during childhood

Look for common signs of poor asthma control mentioned and also
regularly monitor PEFR. Assess compliance, correct usage and if the
correct regime is being used. Patient education is very important as well
as correct inhaler technique.

8. Be able to advice parents about how to care for a child with asthma

Provide an asthma management plan. Educate on when to use drugs, how
to use them, what they are for, how often and how much and what to do
if the asthma gets worse.
Page | 84

The child and parent need to know that increasing cough, wheezing,
breathlessness and difficulty in walking, talking, sleeping or decreasing
relief from bronchodilators all indicate poorly controlled asthma. A supply
of oral steroids can also be provided if necessary.


Bronchiolitis

1. Understand the aetiology and natural history of bronchiolitis

Bronchiolitis is the commonest serious respiratory infection of infancy. 2-
3% of all infants are admitted each year during the annual winter
epidemic and 90% are aged 1-9 months (bronchiolitis is rare after 1
year). Respiratory syncytial virus (RSV) is the pathogen responsible for
80% of cases and the remainder are accounted for by human
metapneumovirus, parainfluenza virus, rhinovirus, adenovirus, influenza
virus and mycoplasma pneumoniae.

2. Recognise and be able to describe the clinical features of bronchiolitis
and be able to relate these to normal physiology

Coryzal (common cold) symptoms precede a dry cough and increasing
breathlessness. Feeding difficulty associated with dyspnoea is often the
reason for admission. Recurrent apnoea is a serious complication,
especially in young infants. Those born prematurely, with CLD, CF or
congenital heart disease are most at risk of severe bronchiolitis.

Characteristic clinical findings include:
Sharp dry cough
Tachpnoea
Subcostal and intercostals recessions
Hyperinflated chest (prominent sternum and liver displaced
downwards)
Find end-inspiratory crackles
High-pitched wheezes (expiratory>Inspiratory)
Tachycardia
Cyanosis or pallor
Prolonged expiration


3. Know how to treat acute bronchiolitis

Investigations are rarely necessary but PCR of respiratory secretions may
be done to show RSV. A chest x-ray is rarely useful but will show
hyperinflation of the lungs due to small airways obstruction, air trapping
and often focal atelectasis (collapsing of part of the lung). Continuous
Page | 85

pulse oximetry will be done but blood gas analysis is rarely used unless
artificial ventilation is being considered.

Management is almost entirely supportive with humidified oxygen via
nasal cannulae at a concentration determined by pulse oximetry. The
infant is also monitored for apnoeas. Mist, antibiotics, steroids and
nebulised bronchodilators have not been shown to reduce the severity or
duration of illness. Fluids can be given IV or NG and assisted ventilation
via nasal or mask CPAP is used in a small percentage of infants.

RSV is very infectious so infection control measures are very important,
mainly good hand hygiene. The prognosis is good and most infants
recover within 2 weeks. However as many as half will have recurrent
episodes of cough and wheeze and rarely the illness will result in
permanent pulmonary damage (following adenovirus infection). A
monoclonal antibody to RSV reduces the number of hospital admissions in
high-risk preterm infants. Its use is limited by cost and need for monthly
IM injections.

4. Be able to advise parents about how to care for a child with a
bronchiolitis

Supportive
Warning signs for admission
Infection risk
What to expect


Cystic Fibrosis

1. Know and understand the aetiology and natural history of cystic fibrosis

Cystic fibrosis is the commonest life-limiting autosomal recessive
condition in Caucasians with an incidence of 1 in 2500 live births and a 1
in 25 carriage rate. Average life expectancy has risen from a few years to
the mid 30s to early 40s. The fundamental problem is a defective CFTR
protein which is basically a chloride dependent channel on the membrane
of cells. The gene is on chromosome 7 and over 1000 mutations have
been discovered to cause a defect, the most common of which is F508.
Additional factors such as environment can play a big role.

CF is a multisystem disorder which results mostly from the abnormal ion
transport across epithelial cells. In the airways this leads to a reduction in
the airway surface mucous layer (it thickens) and consequently an
impaired ciliary function and retention of mucopurulent secretions.
Chronic infection with pseudomonas aeruginoas ensues. Defective CFTR
also causes a dysregulation of inflammation and defence against infection,
Page | 86

a thick viscid meconium in the intestine (meconium ileus in 10-20% of
infants), blocked pancreatic secretions and abnormal function of male
reproductive ability and sweat glands.

In the UK the heel-prick test for immunoreactive trypsinogen is used to
screen for CF. Diagnosis is then confirmed by looking for the exact CF
mutations and performing a sweat test (CL 60-125 mmol/L normally
10-40mmol/L).


2. Recognise and be able to describe the clinical features of cystic fibrosis
and be able to relate these to normal physiology

The majority of children with CF are identified from screening but the
remainder may present with recurrent chest infections poor growth and
malabsorption. Chronic infection with specific bacteria leads to damage of
the bronchial walls, bronchiectasis and abscess formation. The child has a
persistent loose cough, productive of purulent sputum. On examination
there is hyperinflation of the chest due to air trapping, coarse Inspiratory
crepitations and/or expiratory wheeze. With established disease there is
finger clubbing and eventually 95% die of respiratory failure.

90% of children with CF have pancreatic exocrine insufficiency resulting in
maldigestion and malabsorption. Untreated, this leads to failure to thrive
and the passing of frequent large, pale, offensive and greasy stools.

Moving into adulthood an increasing complication is diabetes due to
pancreatic insufficiency. Up to 1/3 of patients will also show evidence of
liver disease with hepatomegaly on liver palpation, abnormal LFTs or an
abnormal ultrasound. Rarely this may progress to cirrhosis, portal
hypertension and liver failure. Liver transplants are very successful in CF
patients. Intestinal obstructions are also common and can be cleared by
oral Gastrografin.

There may be increased chest infections as well as other late respiratory
complications including pneumothorax and life-threatening haemoptysis.
Females maintain normal fertility but males are almost always infertile
due to blockage of the vas deferens.

Finally psychological implications need to be considered in all patients.


3. Be aware of the treatments available to children with cystic fibrosis
including medications, physiotherapy and nutrition

Recurrent and persistent bacterial chest infections are the major problem
in CF. In younger children their respiratory status can be monitored by
Page | 87

symptoms but in older children a FEV
1
should be done as a clinical
indicator of severity and decline with disease progression. With regular
treatment children should have no respiratory symptoms and often no
abnormal signs.

Children should have physiotherapy at least twice a day, aimed at
clearing the airways of secretions. In younger children parents are taught
to do airway clearance at home with chest percussion and postural
drainage. Older patients can perform controlled deep breathing exercises
and use a variety of physiotherapy devices for airway clearance. Physical
exercise is beneficial and should be encouraged.

Many experts recommend continuous prophylactic oral antibiotics (usually
flucloxacillin), with additional rescue antibiotics for any increase in
symptoms or decline in lung function. Persistent symptoms need to be
treated with 14 days of intensive IV antibiotic therapy that can now be
administered through a peripheral venous long line. Chronic pseudomonas
can also be a problem so daily anti-pseudomonal antibiotics are given.
Nebulised DNAse or hypertonic saline may be helpful in decreasing the
viscosity of the sputum and hence increase clearance.

Bilateral sequential lung transplantation is the only therapeutic option for
end-stage CF lung disease. Fortunately this is rarely required but carries a
10 year survival of over 50%.

Nutritional management is also important and should be assessed
regularly. Pancreatic insufficiency is treated with oral enteric coated
pancreatic replacement therapy taken with all meals and snacks. Dosage
is adjusted according to clinical response. A high-calorie diet is essential
and dietary intake is recommended at 150% of normal. To achieve this,
overnight feeding via a gastrostomy is increasingly used. Most patients
need fat-soluble vitamin supplements.


Epiglottitis

1. Be able to recognise the clinical features of Epiglottitis

Epiglottitis is a life-threatening emergency due to the high risk of
respiratory obstruction. It is caused by H.influenzae type B. In the UK and
many other countries the introduction of a universal Hib immunisation in
infancy has led to a >99% reduction in the incidence of Epiglottitis and
other invasive Hib infections.

Epiglottitis is characterised by intense swelling of the epiglottis and
surrounding tissue associated with septicaemia. This is most common in
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children aged 1-6 years but affects all age groups. It is important to
distinguish between this and croup as they require different treatments.

The onset of Epiglottitis is very acute with:
High fever in an ill, toxic-looking child
An intensely painful throat that prevents the child from speaking or
swallowing; saliva drools down the chin
Soft Inspiratory stridor and rapidly increasing respiratory difficulty
over hours
The child sitting immobile, upright, with an open mouth to optimise
the airway

In contrast to viral croup a cough is minimal or absent. Attempts to lie the
child down or examine the mouth with a spatula or perform a lateral neck
x-ray must not be undertaken as they can precipitate total airway
obstruction and death.

Urgent hospital admission and treatment are required. A senior
anaesthetist, paediatrician and ENT surgeon should be summoned and
treatment initiated without delay. The child should be intubated and only
after the airway is secure should antibiotics and other treatment be
started. The tube can usually be removed after 24 hours of antibiotics and
the remaining course given over 3-5 days. Prophylaxis with rifampicin is
offered to close household contacts.

2. Be able to distinguish Epiglottitis from other causes of upper airway
obstruction

Viral croup, foreign bodies, smoke inhalation and bacterial tracheitis are
all discussed later


Otitis Media

1. Recognise the importance of otitis media, be aware of causative
organisms and the treatment options available

Otitis media can be sub divided into two forms: acute and chronic. Most
children will have at least one episode of acute otitis media in their
lifetime and this is most common at 6-12 months. Up to 20% will have
three or more episodes. Young children are particularly vulnerable due to
a short and more horizontal eustachian tube. Characteristic symptoms are
fever and pain in the ear. The tympanic membrane will be visibly red and
bulging with a loss of the normal light reflex. Occasionally there may also
be a perforation.

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Pathogens include viruses (RSV in particular and rhinovirus) and bacteria
(pneumococcus, H.influenzae and Moraxella catarrhalis). Serious
complications include mastoiditis and meningitis but these are
uncommon.

Pain should be treated with an analgesic such as paracetamol or ibuprofen
with regular pain relief being better than intermittent as required relief.
This may be needed for up to a week until the acute inflammation has
settled down. Most cases of acute otitis media will resolve by themselves
and dont require any treatment. Antibiotics can marginally shorten the
duration of pain but have not been shown to reduce the risk of hearing
loss. It is often useful to give parents a prescription but ask them to only
use it if the child remains unwell after 2-3 days. Amoxicillin is widely used
and neither decongestants nor antihistamines are beneficial.

Recurrent otitis media (OME or glue ear) is a chronic asymptomatic (apart
from reduce hearing) condition in children. The ear drum is seen to be
dull and retracted, often with a visible fluid level. Tympanometry will
produce a flat trace and pure tone audiometry will show a conductive loss
(only useful if child is >4 years, otherwise try a distraction test). This
condition is very common between the ages of 2 and 7 with a peak
incidence between 2.5 and 5. Again this condition will resolve
spontaneously and there is no benefit to antibiotics, steroids or
decongestants.

However the conductive hearing loss can cause a developmental delay in
speech development and hence learning difficulties at school. Here
grommets (ventilation tubes) can be inserted or an adenoidectomy can be
performed.


2. Be able to advise parents about how to care for a child with acute otitis
media

Analgesia
Support
Reassurance
Antibiotics if not clear in 2-3 days (acute)


Pneumonia

1. Know and understand the aetiology and natural history of pneumonia
including knowledge of the common causative organisms

Pneumonia is most common in infancy and old age but the incidence is
relatively high in childhood. It is caused by a variety of bacteria and
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viruses although, in over 50% of cases, no causative pathogen is found.
Viruses are the most common cause in young children whilst bacteria are
the most common cause in older children. Clinically it is difficult to
distinguish between these two types. The pathogens generally found are:
Newborns organisms from the mothers genital tract i.e. group B
strep and gram negative enterococci
Infants and young children RSV is most common but also strep
pneumoniae and H.influenzae. Bordetella pertussis and chlamydia
trachomatis can also be a cause. Infrequently staph aureus can be a
cause and is very serious
Children over 5 - mycoplasma pneumoniae, strep pneumoniae and
chlamydia pneumoniae
At all ages mycobacterium tuberculosis should be considered

All children should be immunised against Hib and 13 common serotypes
of strep pneumoniae


2. Recognise and be able to describe the clinical features of pneumonia
and be able to relate these to normal physiology

Fever and difficulty breathing are the commonest presenting symptoms,
usually preceded by an upper respiratory tract infection. Other symptoms
include cough, lethargy, poor feeding and an unwell child. Localised
chest, abdominal or neck pain is a feature of pleural irritation and
suggests bacterial infection.

Examination may reveal tachypnoea, nasal flaring and chest indrawing.
The best clinical sign in children is an increased respiratory rate. There
may be end-inspiratory coarse crackles over the affected area. The classic
signs of consolidation with dullness on percussion, decreased breath
sounds and bronchial breathing over the affected area are often absent in
young children. Decreased oxygen saturations are an indication for
hospital admission.

A chest x-ray may confirm the diagnosis but, with the exception of a
classic lobar pneumonia (characteristic of strep pneumoniae), a chest x-
ray cannot differentiate between bacterial and viral pneumonia. A nasal
pharyngeal aspirate can help with the diagnosis but other blood tests are
less useful. A small proportion of pneumonias may develop a pleural
effusion with blunting of the costophrenic angles on x-ray. These effusions
may develop into empyemas which make drainage difficult. This can be
confirmed with an ultrasound of the chest.


3. Have knowledge of the treatment available to children with pneumonia
including antibiotics, oxygen ad physiotherapy
Page | 91


Most cases can be managed at home but indications for hospital
admission include oxygen saturations less than 93%, severe tachypnoea
and difficulty breathing, grunting, apnoea, not feeding or a family unable
to provide appropriate care.

General supportive care should include oxygen for hypoxia, analgesia for
pain and IV fluids to maintain adequate hydration and salt balance.
Physiotherapy has no role here. The choice of antibiotics is determined by
age, severity of illness and the appearance on chest x-ray. Newborns
should have broad spectrum IV antibiotics whilst most older infants can
manage with oral amoxicillin. Broad spectrum antibiotics are reserved for
complicated or unresponsive children here (i.e. co-amoxiclav). For
children over 5 either oral amoxicillin or erythromycin are the treatments
of choice.

Effusions usually resolve with antibiotics but the small proportion that
develop an empyemas require drainage and collection. The may be done
via the placement of a chest drain with or without the installation of a
fibrinolytic agent into the pleural space to break down any septations, or
by surgical decortications.

Prognosis is good although those with evidence of lobar collapse,
atelectasis or empyemas should have a follow up x-ray at 4-6 weeks.
Virtually all children make a full recovery.


4. Be able to advise parents about how to care for a child with a chest
infection

Supportive care
Analgesia
Antibiotics
Signs and symptoms of concern
Reassurance


Tonsillitis

1. Know and understand the aetiology and natural history of tonsillitis
including knowledge of the common causative organisms

Tonsillitis is a form of pharyngitis where there is intense inflammation of
the tonsils, often with a purulent exudate. Common pathogens include
group A B-haemolytic streptococci and EBV. However the streptococci
may be cultured on many childrens tonsils who are not ill so it is unclear
why it sometimes causes disease. It is not really possible to clinically
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distinguish between viral and bacterial causes although the two entities
are said to look slightly different. Marked constitutional disturbances, such
as headache, apathy and abdominal pain, white tonsillar exudate and
cervical lymphadenopathy are more common with bacterial infection.

Antibiotics (penicillin or erythromycin if allergy) are often prescribed for
severe tonsillitis even though only one third are caused by bacteria. They
may however hasten the recovery from streptococcal infection. In severe
cases children may require hospitalisation for IV fluid administration and
analgesia if they are unable to swallow. Amoxicillin is best avoided as it
can cause a papular rash if the tonsillitis is due to infectious
mononucleosis.


2. Be able to advise parents about how to care for a child with tonsillitis

Supportive measures
Analgesia
Reassurance
Surgical options if repeat infections (5+ in one year?) usually
indications include recurrent otitis media with effusion, recurrent
severe tonsillitis, a peritonsillar abscess and obstructive sleep
apnoea


Upper Respiratory Tract Infection

1. Know and understand the aetiology and natural history of URTI
including knowledge of the common causative organisms

URTI include a wide range of conditions which are the common cold
(coryza), sore throat (pharyngitis), tonsillitis, otitis media and sinusitis.

Approximately 80% of all respiratory tract infections involve only the
nose, throat, ears or sinuses. The commonest presentation is a child with
a combination of nasal discharge and blockage, fever, painful throat and
earache. There may be a troublesome cough as well as difficulty feeding
in infants, febrile convulsions and acute exacerbations of asthma.

Coryza (the common cold) classically includes a clear or mucopurulent
nasal discharge and nasal blockage. The commonest pathogens are
rhinoviruses, coronaviruses and RSV. Parents should be advised that
these are self limiting and no specific curative treatment is needed.
Antibiotics are not necessary and a secondary bacterial infection is very
uncommon.

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Pharyngitis (sore throat) this is where the pharynx and soft palate are
inflamed and local lymph nodes are enlarged and tender. Sore throats are
usually due to a viral infection with respiratory viruses (adenoviruses,
enteroviruses and rhinoviruses). In older children group A B-haemolytic
streptococcus is a common pathogen.

Sinusitis an infection of the paranasal sinuses may occur with viral
URTIs. Occasionally there may be secondary bacterial infection with pain,
swelling and tenderness over the cheek from infection of the maxillary
sinuses. The frontal sinuses do not develop until later childhood so frontal
sinusitis is uncommon in the first decade of life. Antibiotics and analgesics
are used for acute sinusitis in addition to topical decongestants. The
concurrent use of intranasal steroids or antihistamines with antibiotics
may hasten recovery.


2. Know the physiological consequences of fever and the therapeutic
options and indications for the treatment of fever during childhood

Most febrile children have a self limiting viral infection. Mild localised
infections such as otitis media or tonsillitis may be diagnosed clinically. It
is important to consider:
1) How was the fever identified - <4 weeks by an electronic thermometer
in the axilla and 4 weeks to 5 years by an electronic or chemical dot
thermometer in the axilla or an infrared tympanic thermometer.
2) How old is the child infants under 3 months with non-specific
features often have a bacterial infection. It is uncommon for them to have
the common viral infections of older children as they should still have
passive immunity from their mother.
3) Risk factors illness of other family members, unimmunised, travel
abroad, immunodeficiency and contact with animals.
4) How ill is the child Serious if fever >38 if <3 months and >39 if 3-6
months. Pale or blue, reduced consciousness, respiratory distress,
dehydrated or shocked.
5) Is there a rash?
6) Is there a focus for infection?

Management the source of infection may need treating depending on its
severity. Most children simply have a URTI and can be managed at home
if the parents are given clear instructions. The child should not be
undressed and the use of anti-pyretic agents should be considered in
children with a fever who appear distressed or unwell. Either paracetamol
or ibuprofen can be used and they may be used alternatively if the child is
irresponsive to either agent alone. Febrile seizures may occur and are
mentioned in later objectives.


Page | 94

3. Be able to advise parents about how to care for a child with an URTI

Advice on management
Reassurance
Signs to look for


Viral Croup

1. Know and understand the aetiology and natural history of viral croup
including knowledge of the common causative organisms

Croup is a condition characterised by mucosal inflammation and increased
secretions affecting the airway. It is the oedema of the subglottic area
that is potentially dangerous in young children because it may result in
critical narrowing of the trachea. Viral croup accounts for 95% of
laryngotracheal infections. Parainfluenza viruses are the commonest
cause, but other viruses, such as human metapneumovirus, RSV and
influenza can produce a similar clinical picture.

Croup occurs from 6 months to 6 years of age but the peak incidence is in
the second year of life. It is commonest in the autumn and typical
features include a barking cough, harsh stridor and hoarseness, usually
preceded by fever and coryza. The symptoms often start and are worse at
night.


2. Know the management options available, including drugs, oxygen and
supportive therapy

When the airway obstruction is mild the stridor and chest recessions
disappear at rest. The child can usually be managed at home but the
parents need to observe the child closely. The decision of where to
manage the child is based on severity, age, time of day, parental
confidence and access to services.

Inhalation of warm moist air is widely used but is of no proven benefit.
Oral dexamethasone, oral prednisolone and nebulised steroids reduce the
severity and duration of croup, and the need for hospitalisation. In severe
upper airway obstruction, nebulised epinephrine (adrenaline) with oxygen
by facemask provides transient improvement. Close monitoring along with
advice from an anaesthetist or intensivist is imperative due to the risk of
rebound symptoms once the adrenaline has worn off after around 2
hours. Few children require tracheal intubation due to the introduction of
steroid therapy.


Page | 95

3. Be able to advise parents about how to care for a child with viral croup

Close monitoring
Support
Reassurance


4. Be able to make a confident differential diagnosis for the various
causes of upper airway obstruction

Croup Epiglottitis
Onset Days Hours
Preceding coryza Yes No
Cough Severe, barking Absent, slight
Able to drink Yes No
Drooling No Yes
Appearance Unwell Toxic, very ill
Fever <38.5 >38.5
Stridor Harsh, rasping Soft, whispering
Voice, cry Hoarse Muffled, reluctant to
speak

Other causes include an inhaled foreign body (very short history),
trauma, smoke inhalation, bacterial tracheitis or congenital. Most of these
have quite clear cut histories which differentiate them from each other.


Inhaled Foreign Body

1. Be able to provide immediate care for a choking child

Assess the severity then call for help. If there is an effective cough then
encourage coughing and continue to check for deterioration. If the cough
is ineffective then give 5 back blows followed by 5 thrusts (chest for
infant and abdominal for >1 year) if conscious. If unconscious then open
airway, give 5 breaths and start CPR.


Pertussis

1. Know the aetiology and natural history of Pertussis

Also know as whooping cough, this is a highly contagious respiratory
infection caused by bordetella pertussis. It is endemic, with epidemics
every 3-4 years. After a week of coryza (catarrhal phase) the child
develops a characteristic paroxysmal or spasmodic cough followed by a
characteristic Inspiratory whoop (paroxysmal phase). The spasms of
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cough are often worse at night and may culminate in vomiting. During a
paroxysm the child goes red or blue in the face and mucus flows from the
mouth and nose. The whoop is often absent in infants but apnoea is
common instead. Epistaxis and subconjunctival haemorrhages can occur
with vigorous coughing and the paroxysmal phase can last 3-6 weeks.
The symptoms then gradually decrease (convalescent phase) but may still
persist for months. Complications including pneumonia, convulsions and
bronchiectasis are uncommon but there is still significant mortality.
Infants who have not completed their primary vaccination at 4 months
are particularly at risk.


2. Understand the effect of immunisation on presentation of clinical
features

Pertussis organism can be eradicated with erythromycin although this
only reduces symptoms if started in the catarrhal phase. Close contacts
should receive erythromycin prophylaxis and unvaccinated contacts
should be vaccinated.

Immunisation reduces the risk of developing pertussis and the severity of
the disease in those affected, but does not guarantee protection. The
level of protection steadily declines during childhood.


3. Be able to advise parents of a child with a suspected case of pertussis

Symptoms will eventually resolve
Get prophylaxis or immunisation for close contacts
Advise about common symptoms
Explain symptoms that are worrying


Tuberculosis

1. Be able to recognise the clinical features of tuberculosis in children

TB infection can be both symptomatic and asymptomatic. Nearly half of
infants and 90% of older children will show minimal signs and symptoms
of infection. A local inflammatory reaction limits the progression of
infection. However the disease remains latent and may therefore develop
into active disease at a later time. A mantoux test may become positive
and is sufficient evidence to initiate treatment (+ve if >10mm or >15mm
if they have had the BCG immunisation).

If the local host response fails to contain the inhaled tubercle bacilli then
it may spread via the lymphatic system to regional lymph nodes. The lung
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lesion plus lymph nodes constitutes the Ghon or primary complex. The
hosts cellular immune response will respond 3-6 weeks later and
mycobacterial replication will diminish but systemic symptoms will
develop: fever, anorexia/weight loss, cough and chest x-ray changes.
The primary complex usually heals and may even calcify. The
inflammatory reaction may lead to local enlargement of peribronchial
lymph nodes which may cause bronchial obstruction, with collapse and
consolidation of the affected lung. Pleural effusions may also be present.

TB may also involve other organs including the gut, skin and superficial
lymph nodes.

TB can become dormant but subsequently reactive and cause post
primary TB. This may be local or widely disseminated military TB to sites
such as the bones, joints, kidneys, pericardium and CNS. In infants and
young children seeding to the CNS is particular likely and leads to
tuberculous meningitis.

2. Have a knowledge of treatment options required and the difficulties in
ensuring adherence in children

Treatment is usually with quadruple therapy (rifampicin, isoniazid,
pyrazinamide and ethambutol). This is decreased to two drugs (rifampicin
and isoniazid) after 2 months, by which time antibiotic sensitivities should
be known. Treatment for uncomplicated TB is usually for 6 months but
longer courses are required for meningitis or if it is disseminated.
Pyridoxine is given weekly, if the person is post puberty, to prevent a
peripheral neuropathy from isoniazid. Asymptomatic children who are
mantoux positive, and therefore latently infected, should be treated with
two drugs for 3 months to decrease the risk of reactivation of infection in
later life.

Adherence to drug therapy can be problematic but is essential for
successful treatment.


Bacterial Tracheitis

1. Be able to recognise the clinical features of bacterial Tracheitis

This condition is also called pseudomembranous croup and is a rare but
dangerous condition very similar to croup with the exception that the child
has a high fever, appears toxic and has rapidly progressive airway
obstruction with copious thick airway secretions. It is caused by an
infection with staph aureus and treatment is with IV antibiotics and
intubation and ventilation if required.

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Smoke Inhalation

1. Understand the immediate danger posed by burns and smoke
inhalation in relation to the anatomy of the airway and be familiar with
emergency protocols for their management

When a person inhales a large amount of smoke the bodies normal
defence mechanisms for removing particulate matter are overcome. This
means that coughing and sneezing become practically useless. The
alveoli, and other parts of the respiratory tract, become coated in
particulates which impair gas exchange and reduce the amount of oxygen
getting into the body. Smoke can also be incredibly hot and inhalation
burns are common to the very upper respiratory tract. These burns
around the airway can lead to swelling and occlusion of the airway further
down the line. Finally smoke can contain many nasty chemicals such as
carbon monoxide or toxic fumes which can cause a desaturation of
haemoglobin and loss of consciousness.

Symptoms of smoke inhalation include a cough, SOB, sore throat,
headache and confusions. There can also be a lot of mucosal oedema
caused by the burning of the mouth and throat. The patient may be blue
or cyanosed as asphyxia sets in due to the deposition of smoke in the
lower lungs. Respiratory rate will also increase accordingly.

To manage the patient should be taken to safety and placed in fresh air
before being given high flow and humidified oxygen to breathe. 100%
oxygen helps to remove CO from the blood quickly and reduces any
poisoning affect that it may have had. CO is the leading cause of cardiac
arrest and death before patients reach hospital. About 50% of patients
will need intubation and PEEP to maintain the airway.


Cardiovascular

Cardiac Failure

1. Be able to describe the presenting features

Symptoms:
Breathlessness (particularly on feeding or exertion)
Sweating
Poor feeding
Recurrent chest infections

Signs:
Poor weight gain or faltering growth
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Tachypnoea
Tachycardia
Heart murmur, gallop rhythm
Enlarged heart
Hepatomegaly
Cool peripheries

Signs of right sided heart failure (ankle oedema, sacral oedema and
ascities) are rare in developed countries but can be seen with long-
standing rheumatic fever or pulmonary hypertension, with tricuspid
regurgitation and right atrial dilatation.


2. Take a history and examination from a child with cardiac symptoms

Cyanosis
Clubbing of fingers or toes
Pulse rate rhythm, volume
Inspection distress, precordial bulge, scars, ventricular impulse
Palpation thrill (palpable murmur ), apex (4
th
-5
th
intercostals
space, mid-clavicular line), right ventricular heave (lower left sterna
edge) shows right ventricular hypertrophy
Auscultation heart sounds in four areas (apex, LLSE, ULSE, URSE)
and the back. Check for murmurs, loud heart sounds, splitting of
heart sounds
Hepatomegaly
Lung bases
Femoral pulses
Blood pressure

Normal pulse rate

Age Beats/min
<1 Year 110-160
2-5 Years 95-140
5-12 Years 80-120
>12 Years 60-100




3. Be able to consider the differential diagnosis

In the first week of life heart failure usually results from left heart
obstruction (e.g. Coarctation of the aorta). If the obstructive lesion is very
severe then arterial perfusion may be predominantly by right to left flow
of blood via the arterial duct, so called duct-dependent systemic
Page | 100

circulation. Closure of the duct under these circumstances rapidly leads to
severe acidosis, collapse and death unless ductal patency is restored
(usually by prostaglandin infusion).

After the first week of life, progressive heart failure is most likely due to a
left to right shunt. During the subsequent weeks, as the pulmonary
vascular resistance falls, there is a progressive increase in left to right
shunt and increasing pulmonary blood flow. This causes pulmonary
oedema and breathlessness. These symptoms will increase up to the age
of about 3 months but may subsequently improve as the pulmonary
vascular resistance rises in response to the left to right shunt.

If left untreated these children will develop Eisenmenger syndrome which
is an irreversibly raised pulmonary vascular resistance. This means the
new shunt is from right to left and the teenager is blue. If this occurs then
the only surgical option is a heart-lung transplant.

Causes of heart failure:
Neonates (duct-dependent) aortic valve stenosis, Coarctation of
the aorta, interruption of the aortic arch and hypoplastic left heart
syndrome
Infants (high pulmonary blood flow) VSD, AVSD or large
persistent ductus arteriosus
Older children and adolescents (right to left heart failure)
Eisenmenger syndrome, rheumatic heart disease, cardiomyopathy

4. Outline the initial management of a child with cardiac failure

This depends on the time of presentation, symptoms and what the cause
is thought to be. Investigations are vital and should include a general
examination, blood pressures, peripheral pulses, bloods, ECG, chest x-
ray, pulse oximetry and echocardiogram.

With duct dependent circulations then a prostaglandin infusion should be
given to maintain the duct patency until the defect can be fixed. With a
right to left shunt and high pulmonary flow the patient should be put on
diuretics and captopril (ACE inhibitor). Depending on the problem it
should either resolve or will need surgical intervention. Beta blockers and
digoxin also have their role to play.


Murmurs (including innocent)

1. List the key features that distinguish innocent from pathologic murmurs

The vast majority of children with murmurs have a normal heart.
Innocent murmurs can be heard at some time in almost 30% of children
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(most commonly at the age of 3-4). The signs of an innocent ejection
murmur are:
Asymptomatic patient
Soft blowing murmur
Systolic murmur only, not diastolic
Left sternal edge
Also
Normal heart sounds with no added sounds
No parasternal thrill
No radiation

During a febrile illness or anaemia, innocent or flow murmurs are often
heard because of increased cardiac output. Therefore it is important to
examine a child when such other illnesses have been corrected.

Many newborn infants with potential shunts have neither symptoms nor a
murmur at birth, as the pulmonary vascular resistance is still high.
Therefore, conditions such as VSD or ductus arteriosus may only become
apparent at several weeks of age when the pulmonary vascular resistance
falls.


2. Describe the features of a venous hum

Venous hum is a common and harmless condition found in children. The
murmur can be heard above the right clavicle and over the right jugular
vein. The flow of blood here causes the vein walls to vibrate and this
creates a humming noise. The hum is heard throughout the cardiac cycle
and placing a finger on the jugular vein will abolish the sound. The
murmur may also disappear if the patient is supine or if the patient turns
their heard to one side.


3. Following CVS examination, be able to diagnose common murmurs

Murmurs and their characteristics are included in the individual sections
for each congenital heart condition.


Acyanotic Congenital Heart Disease

1. List the epidemiology, features and management of common types of
acyanotic heart disease e.g. VSD/ASD/AS/PS

General epidemiology 8 per 1000 live born infants have significant
cardiac malformations and some abnormality of the cardiovascular system
(e.g. a bicuspid aortic valve), is present in 1-2% of live births.
Page | 102


ASD

This is a form of left to right shunt and makes up around 7% of cardiac
malformations. There are two types of ASD: a secundum ASD (80%) and
a partial AVSD.

Both present with similar symptoms and signs but their anatomy is quite
different. The secundum ASD is a defect in the centre of the atrial septum
involving the foramen ovale. A partial AVSD is a defect of the
atrioventricular septum and is characterised by an inter-atrial
communication between the bottom end of the atrial septum and the
atrioventricular valves.

Clinical features

Symptoms: commonly none, recurrent chest infections/wheeze,
arrhythmias (4
th
decade onwards)

Physical signs: an ejection systolic murmur best heard at the ULSE (due
to increased flow across the pulmonary valve because of the left to right
shunt). A fixed and widely split second heart sound (hard to hear). With a
partial AVSD an apical pansystolic murmur may be heard

Investigations

Chest radiograph: cardiomegaly, enlarged pulmonary arteries and
increased pulmonary vascular markings.

ECG: Secundum ASD will show a partial RBBB (can also occur in normal
children) and right axis deviation due to right ventricular enlargement. A
partial AVSD will give a superior QRS axis (largely negative in AVF) due
to the defect being near the AV node.

Echocardiogram: Will delineate the anatomy and is the mainstay of
diagnostic investigations

Management

Children with a large enough defect to cause right ventricular dilation will
require treatment. For a secundum ASD this is by cardiac catheterisation
with the insertion of an occlusion device. For partial AVSD surgical
correction is required. Treatment is usually undertaken at about 3-5 years
of age in order to prevent right heart failure and arrhythmias in later life.

VSD

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This is another form of left to right shunt and accounts for roughly 30% of
all cases of congenital heart disease (most common by far!). There is a
defect anywhere in the ventricular septum, perimembranous (adjacent to
the tricuspid) or muscular. They can be considered according to their size.

Small VSD (smaller than the aortic valve <3mm)

Clinical features

Symptoms: Asymptomatic

Physical signs: Loud pansystolic murmur at LLSE (loud = small) and a
quiet pulmonary second sound

Investigations

Chest radiograph: normal

ECG: normal

Echocardiogram: shows the defect with no pulmonary hypertension

Management

These lesions will close spontaneously and this is ascertained by the
disappearance of the murmur with a normal ECG on follow-up by a
paediatrician or paediatric cardiologist, and by a normal echocardiogram.
Whilst the VSD is present, prevention of bacterial endocarditis is by
maintaining good dental hygiene.

Large VSD (bigger than the aortic valve >3mm)

Clinical features

Symptoms: heart failure with breathlessness and failure to thrive after 1
week old. Patient will also have recurrent chest infections.

Physical signs: tachypnoea, tachycardia and enlarged liver all from heart
failure. Active precordium should be felt (volume overload) and a soft
(large defect) pansystolic murmur will be heard at the LLSE. An apical
mid-diastolic murmur will be present (due to increased flow across the
mitral value from blood leaving the lungs) as will a loud pulmonary
second sound due to raised pulmonary arterial pressure.

Investigations

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Chest radiograph: cardiomegaly, enlarged pulmonary arteries, increased
pulmonary vascular markings and pulmonary oedema.

ECG: biventricular hypertrophy by 2 months of age (upright T wave
pulmonary hypertension)

Echocardiography: shows defect

Management

Drug therapy for heart failure is with diuretics, often combined with
captopril. Additional calorie input is also required. There is always
pulmonary hypertension with a large VSD and left to right shunt and this
will ultimately lead to irreversible damage and Eisenmenger syndrome. To
prevent this surgery is usually performed at 3-6 months of age.

AS

Aortic stenosis makes up 5% of congenital heart malformations and is
where the aortic valve leaflets are partly fused together, giving a
restrictive exit from the left ventricle. There may be one to three leaflets.
Aortic stenosis may not be an isolated lesion and is often associated with
mitral valve stenosis and Coarctation of the aorta.

Clinical features

Most present with an asymptomatic murmur but those with severe
stenosis may present with reduced exercise tolerance, chest pain on
exertion or syncope. In the neonatal period those with critical aortic
stenosis and a duct-dependent systemic circulation may present with
severe heart failure leading to shock

Physical signs: small volume and slow rising pulse, carotid thrill (always),
ejection systolic murmur at the URSE radiating to the neck, delayed and
soft aortic second sound and an apical ejection click.

Investigations

Chest radiograph: normal or prominent left ventricle with post-stenotic
dilatation of the ascending aorta.

ECG: may show left ventricular hypertrophy (deep s wave in V2 and tall r
wave in V6) (down going t wave suggests left ventricular strain and
severe aortic stenosis).

Management

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In children a regular clinical and echocardiographic assessment is required
in order to assess when to intervene. Children with symptoms on exercise
or who have a high resting pressure gradient (>64mmHg) across the
aortic valve will undergo balloon valvotomy. Balloon dilatation in older
children is generally safe but in neonates it is much more difficult and
dangerous. Most children with significant stenosis requiring treatment in
the first few years of life will eventually require aortic valve replacement.

PS

Pulmonary stenosis makes up 7% of congenital heart malformations and
is where the pulmonary valve leaflets are partly fused together giving a
restricted exit from the right ventricle.

Clinical features

Most are asymptomatic and are diagnosed clinically. A small number of
neonates with critical pulmonary stenosis have a duct dependent
pulmonary circulation and present in the first few days of life with
cyanosis.

Physical signs: an ejection systolic murmur best heard at the ULSE and a
thrill may be present. An ejection click may be heard at the ULSE and,
when severe, there is a prominent right ventricular impulse (heave).

Investigations

Chest radiograph: normal or post-stenotic dilatation of the pulmonary
artery.

ECG: evidence of right ventricular hypertrophy (upright t wave in V1)

Management

Most children are asymptomatic and when the pressure gradient across
the pulmonary valve becomes markedly increased (>64mmHg)
intervention will be required. Trans-catheter balloon dilatation is the
treatment of choice in most children.


AVSD

1. Describe the anatomy and murmur characteristics

Atrioventricular septal defects can be complete or partial (described above
in ASD). They are most commonly seen in children with downs syndrome
and affects nearly 25% if these children. The anatomy of this defect is
Page | 106

basically that there is a hole in the centre of the heart. This creates a
passage between both atria and a passage between both ventricles. This
also leads to the obliteration of valves so that there is only one valve on
each side of the heart (between the atrium and ventricle) but this is often
very leaky.

Since the left side of the heart is at a high pressure this causes blood to
move from the left atrium and ventricle into the right atrium and ventricle
and causes pulmonary hypertension. There is generally an increase in
right ventricular compliance so the right atrium enlarges and the left
atrium may too.

In partial AVSD there is only an atrial component and there are two
valves. However the mitral valve is often poorly formed and leaky.

The murmur characteristics may vary significantly but could include the
following:
Systolic ejection murmur (increase flow through pulmonary valve
and splitting of S2)
Mid-diastolic murmur (LLSE increased flow through mitral valve)
Apical holosystolic murmur (radiating to left axilla due to mitral
insufficiency)

The patient may present on antenatal ultrasound screening or with
cyanosis at birth/heart failure at 2-3 weeks of life.

Management is to treat heart failure medically and surgical repair of the
defect at 3-6 months.

2. Be aware of the association with trisomy 21

Around 15-20% of children with downs syndrome with have AVSD and
around 45% of children with downs syndrome will have some form of
congenital heart disease.

3. Outline the presenting features clinically, on ECG and CXR

The ECG will be complex but should show left axis deviation, right atrial
enlargement, bi-ventricular hypertrophy, and an incomplete RBBB. A
prolonged PR interval (1
st
degree heart block) is likely due to an abnormal
AV node.

CXR will show cardiomegaly and increased pulmonary vasculature.


Coarctation of the Aorta

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1. Presenting features and diagnosis

This is due to arterial duct tissue encircling the aorta just at the point of
insertion of the duct. When the duct closes, the aorta also constricts,
causing severe obstruction to the left ventricular outflow. This is the
commonest cause of collapse due to left outflow obstruction.

Clinical features

Examination on the first day of life is usually normal. The neonates
usually presents with acute circulatory collapse at 2 days of age when the
duct closes.

Physical signs: a sick baby with severe heart failure, absent femoral
pulses and severe metabolic acidosis. A murmur may also be heard at the
ULSE.

Investigations

Chest radiograph: cardiomegaly from heart failure and shock

ECG: normal

It is often associated with other problems such as a VSD, Turners
syndrome and bicuspid aortic valve.

2. Be aware of the association with bicuspid AV and common syndromes

A bicuspid aortic valve is a congenital condition where two aortic valvelets
have fused during development to give a bicuspid valve. These are the
most common congenital valve deformity and occur in 1-2% of the
population. Often these cause no problems but they can become calcified
in later life which will lead to varying degrees of stenosis and a murmur.
This can eventually lead to aortic regurgitation and the need for surgery.
These people will lack stamina and find themselves getting tired easily.

VSD is another association with Coarctation of the aorta

Turners syndrome is also associated and is only found in females. It is
where there is only one complete X chromosome in each cell and this can
lead to many problems of almost every body system.


3. Be aware of the surgical management

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As for all children with an obstructed left outflow tract, surgical repair is
performed soon after diagnosis. Firstly prostaglandins and drugs to
manage the heart failure are given.

Angioplasty with or without stenting may be used to correct the area.
However sometimes open surgery is needed and techniques include
resection and anastomoses, a bypass graft or a more tailored
reconstructive approach. Balloon angioplasty appears to only buy time.


Duct Dependent Lesions

1. List the common types e.g. Coarctation/TGA/HLHS/PA/TA

Coarctation Coarctation of the aorta
TGA Transposition of the great arteries
HLHS Hypoplastic left heart syndrome
PA Pulmonary atresia
TA Tricuspid atresia

Aortic stenosis if severe
Pulmonary stenosis if severe

Almost all of these conditions have their own sections dedicated to them.
However it is worth mentioning about pulmonary and tricuspid atresia.

Tricuspid atresia is where this valve is absent or abnormally developed
and hence blood flow is blocked from passing from the right atrium to
right ventricle. A child with this condition must have an ASD and VSD to
survive. A patent ductus arteriosus usually also persists to allow greater
pulmonary flow.

Pulmonary atresia is where the pulmonary valve fails to develop and
completely blocks the outflow of blood from the heart to the lungs. In
utero this does not cause a problem but when born the only thing
providing oxygen to the lungs is the ductus arteriosus. The baby will
usually turn blue rapidly and this should lead to a quick diagnosis.


2. Outline the immediate management when the duct is closing

The immediate management is to restore the duct via a prostaglandin
infusion. This is a short term solution and formaldehyde should be
infiltrated into the structure for the longer term.


Patent Ductus Arteriosus
Page | 109


1. Outline from fetal circulation to later presenting features and its
management

In a fetus the ductus arteriosus provides a connection from the pulmonary
artery to the descending aorta. When maternal oxygenated blood enters
the right atrium it is pumped across the foramen ovale into the left atrium
as well as some into the right ventricle. As no blood is really needed in
the lungs, the blood enters the pulmonary artery and crosses the ductus
arteriosus into the aorta. When born the pulmonary resistance increases
which means the left side of the heart increase in pressure by over 6
times and this closes the foramen ovale. The ductus arteriosus now has
blood flowing in the opposite direction and should close in the next few
hours or days.

If the duct has failed to close 1 month after the expected date of delivery
then it is classified as persistent. This is usually because the mechanism
that constricts the duct has failed. The blood flow is now from the aorta
and into the pulmonary artery i.e. left to right which will make the patient
breathless. In preterm infants this will likely be due to prematurity and
should close by itself eventually.

Clinical features

Most children present with a continuous murmur beneath the left clavicle.
This murmur continues into diastole because the pressure in the
pulmonary artery is always lower than the aorta. The pulse pressure is
increased and this causes a collapsing or bounding pulse. Symptoms can
be unusual but when the duct is large there will be increased pulmonary
blood flow with heart failure and pulmonary hypertension.

Investigations

The chest radiography and ECG will usually be normal but if large enough
then the features seen will be indistinguishable from those seen with a
large VSD. The duct can be easily identified on echocardiography.

Management

Closure is recommended to abolish the lifelong risk of bacterial
endocarditis and of pulmonary vascular disease. Closure is with a coil or
occlusion device introduced via a cardiac catheter at about 1 year of age.
Occasionally surgical ligation is required.


SVT

Page | 110

1. Describe the presenting features both clinically and on ECG

This is the most common childhood arrhythmia and presents with a rapid
heart rate between 250 and 300 beats/min. There can cause poor cardiac
output and pulmonary oedema. It typically presents with symptoms of
heart failure in the neonate or young infant and it is a cause of hydrops
fetalis (accumulation of fluid in several separate compartments) and
intrauterine death.

The term re-entry tachycardia is used because a circuit of conduction is
set up, with premature activation of the atrium via an accessory pathway.
There is rarely a structural heart problem but an echocardiogram should
be performed to be certain.

The ECG will show a narrow complex tachycardia of 250-300 beats/min. It
may also be possible to discern P waves after the QRS complex due to
retrograde activation of the atrium via the accessory pathway. T wave
inversion may occur with heart failure. When in sinus rhythm a short P-R
interval may be discernable. In Wolff-Parkinson-White syndrome there will
be a short P-R interval and a delta wave.


2. Describe management options both pharmacologically and non-
pharmacologically

In an ill child the prompt restoration of sinus rhythm is key to
improvement. This can be achieved in several ways:
Circulatory and respiratory support correct tissue acidosis and
give positive pressure ventilation if required
Vagal stimulation manoeuvres e.g. carotid sinus massage or ice cold
pack to face, successful in around 80%
IV adenosine is the treatment of choice. This is safe and effective
and induces atrioventricular block after a rapid bolus injection. It
terminates the tachycardia and hence breaks the re-entry circuit
that has been set up between the AV node and accessory pathway.
It is given incrementally in increasing doses.
Electrical cardioversion with a synchronised DC shock (0.5-2 J/kg
body weight) if adenosine fails

Once sinus rhythm is restored maintenance therapy is needed e.g. with
flecainide or sotalol. Digoxin can be used on its own when there is no
overt pre-excitation wave on the resting ECG but propranolol can be
added in the presence of pre-excitation. Even with an abnormal resting
ECG, 90% of children will have no further attacks in infancy. Therefore
treatment is stopped at one year. Those with WPW need to be assessed
and given potential atrial pacing or cryoablation (or radiofrequency
ablation) of the accessory pathway.
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3. Be aware of the aetiology

See first section


Tetralogy of Fallot

1. List the key features that make TOF

This is the most common cause of cyanotic congenital heart disease and
is composed of four cardinal anatomical features:
A large VSD
Overriding of the aorta with respect to the ventricular septum
(basically this means it receives into from both the left and right
ventricles)
Subpulmonary stenosis causing right ventricular outflow tract
obstruction
Right ventricular hypertrophy as a result

Symptoms

Most are diagnosed antenatally or following the identification of a murmur
in the first two months of life. Cyanosis at this stage may not be obvious
although a few present with severe cyanosis in the first few days of life.
Hypercyanotic spells are now rare in developed countries but are basically
a rapid increase in cyanosis usually associated with irritability and
inconsolable crying because of the severe hypoxia. There is also
breathlessness and pallor because of tissue acidosis.

Signs

Clubbing of the fingers and toes will develop in older children. There will
also be a loud, harsh ejection systolic murmur at the left sterna edge
from day 1 of life. With increasing right ventricular outflow obstruction the
murmur will shorten and cyanosis will increase.

Investigations

Chest radiograph: a radiograph will show a relatively small heart, possibly
with an uptilted apex due to right ventricular hypertrophy (this will be
more prominent in an older child). There may be a right sided aortic arch
but more characteristically there is a pulmonary artery bay which is a
concavity on the left heart border where the convex-shaped main
pulmonary artery and right ventricular outflow tract would normally be
Page | 112

seen. There may also be decreased pulmonary vascular markings
reflecting the reduction in pulmonary blood flow.

ECG: Normal at birth and showing right ventricular hypertrophy when
older


2. Early and late management (BT shunt vs. complete correction)

Initial management should be medical with definitive surgery at around 6
months of age. This involves closing the VSD and relieving the right
ventricular outflow obstruction, sometimes with an artificial patch which
extends across the pulmonary valve (to repair the VSD).

Infants who are very cyanosed in the neonatal period may require a BT
shunt (not often done) to increase pulmonary blood flow. This is usually
done surgically by placing an artificial tube between the subclavian artery
and the pulmonary artery. This can sometimes be achieved by balloon
dilatation of the right ventricular outflow tract.

Hypercyanotic spells are usually self limiting but if beyond 15 minutes
then they require prompt treatment. This involves sedation, IV
propranolol, IV fluids, bicarbonate for the acidosis and paralysis plus
ventilation.


Transposition of the Great Vessels

1. Understand the parallel circulation and duct dependence

With this condition the aorta is connected to the right ventricle and the
pulmonary artery is connected to the left ventricle. Therefore the blue
blood is returned to the body and the pink blood is returned to the lungs.
This creates two parallel and completely isolated circuits and, unless there
is mixing of blood between them, then this condition is incompatible with
life. Fortunately naturally occurring defects such as VSD and ASD are
common. A PDA as well as therapeutic interventions can achieve this
mixing for a short amount of time.

Clinical features

Symptoms: Cyanosis is the predominant symptom and it can be profound
or even life threatening. Presentation is usually on day two of life when
the ductal closure leads to a marked reduction in mixing of the
desaturation and saturated blood. Cyanosis will be less severe and the
presentation delayed if there is more mixing of the blood for associated
abnormalities.
Page | 113


Physical signs: Cyanosis is always present and the second heart sound is
often loud and single. There is usually no murmur but there can be a
systolic murmur from the increased flow or stenosis within the left
ventricular (pulmonary) outflow tract.

Investigations

Chest radiograph: This may reveal the classical findings of a narrow upper
mediastinum with an egg on side appearance of the cardiac shadow (due
to the anteroposterior relationship of the great vessels, narrow vascular
pedicle and hypertrophied right ventricle respectively). There will be
increased pulmonary vascular markings due to increased pulmonary blood
flow.

ECG: usually normal

Echocardiogram: will clearly demonstrate the abnormal connections.


2. Recognise the urgent need for atrial septostomy and later arterial
switch

In the sick neonate the key is to improve mixing. Maintain this patency of
the ductus arteriosus with a prostaglandin infusion is mandatory. A
balloon atrial septostomy may be a life-saving procedure which may need
to be performed in 20% of those with transposition of the great arteries.
A catheter, with an inflatable balloon tip, is passed through the umbilical
or femoral vein and then on through the right atrium and foramen ovale.
The balloon is inflated within the left atrium and then pulled back through
the atrial septum. This tears the atrial septum, renders the flap valve of
the foramen ovale incompetent, and so allows mixing of the systemic and
pulmonary venous blood within the atrium.

All patients with transposition of the great arteries will require surgery,
which is usually the arterial switch procedure in the neonatal period. In
this operation, performed in the first few days of life, the pulmonary
artery and aorta are transacted above the arterial valves and switched
over. In addition the coronary arteries have to be transferred across to
the new aorta.


VSD/ASD

1. List the key presenting features clinically, on ECG, CXR and echo

Discussed in acyanotic congenital heart disease section
Page | 114



2. Outline the basic medical and surgical management

Discussed in acyanotic congenital heart disease section


Cardiac Disease and Association with other Syndrome

1. List the syndrome associations and cardiac disease e.g. Turners,
Noonans and Marfans syndrome

Turners syndrome is discussed in the Coarctation of the aorta section.

Noonans syndrome is a genetic syndrome with a wide range of potential
symptoms. The most common three are short stature, distinctive and
unusual facial features and congenital heart disease. The severity of these
can range from mild to life threatening. Unusual features include a broad
forehead, wider distance between eyes, drooped eyelids, low set ears
rotated backwards, a small jaw, short next with excess skin folds and a
lower than normal hairline at the back of the head.

With regards to congenital heart disease there may be one of the
following:

Pulmonary stenosis: the most common and affects around half of people
with Noonans. In many cases there will be no symptoms and hence no
treatment is required.

Hypertrophic cardiomyopathy: the second most common type and affects
10-20% of children. Here the heart muscles are much larger than they
should be and this puts strain on the heart and cause breathlessness. This
can cause heart failure in infancy but generally improves with age.

Septal defects: can be an ASD or VSD

Marfans syndrome is a hereditary condition that mostly affects connective
tissue. The symptoms vary from person to person and depend on which
area of the body is affected. It can affect blood vessels (causing damage
to the heart), the skeleton (causing long, thin limbs) and eyes (causing
lens dislocation).

Physical signs:

Skeleton: tall, slim, long thin arms and legs, loss and flexible joints, small
bottom jaw, high arched palate, deep-set eyes, flat feet, sternum
protrudes and crowded teeth.
Page | 115


Scoliosis, spondylolisthesis and dural ectasia can all occur.

Eyes: short sighted, glaucoma, cataracts and detached retina

Cardiovascular System:

Aorta: The walls of the aorta are weakening in Marfans syndrome which
can cause the aorta to enlarge and bulge outwards as an aneurysm or it
can dissect and burst. This can cause fatal internal bleeding if not
immediately fixed.

Valves: The mitral and tricuspid valves can prolapse and not close
properly which leads to regurgitation.


Hypoplastic Left Heart

1. Basic understanding of how single ventricular CHD presents and is
managed

Hypoplastic left heart syndrome is a condition where there is complete
underdevelopment of the entire left side of the heart. The mitral valve is
small or atretic, the left ventricle is diminutive and there is usually aortic
atresia. There is almost invariably Coarctation of the aorta as well. For the
child to survive there must be an ASD to allow the returning blood to
leave the left atrium and re-circulate.

Clinical features

These children may be detected antenatally at ultrasound screening and
this allows for effective counselling which helps prevent the child
becoming sick after birth. If they do present after birth they are the
sickest of all neonates presenting with a duct dependent systemic
circulation. There is no flow through the left side of the heart so ductal
constriction leads to profound acidosis and rapid cardiovascular collapse.
There is weakness or absence of all peripheral pulses in contrast to weak
femoral pulses in Coarctation of the aorta.

Management

This consists of a difficult neonatal operation called the Norwood
procedure. This is followed by further operations at 6 months and again at
3 years.


Myocarditis
Page | 116


1. Be aware of the causes and presenting features

Myocarditis is an uncommon disorder which is usually caused by a viral
infection that reaches the heart, when found in children. Such viruses
include influenza, coxsackie virus and adenovirus. However it can occur
after or during other viral or bacterial infections such as polio, rubella,
Lyme disease and others.

When infected the body tries to fight of the disease. If the infection enters
the heart then so will the immune cells. The resulting chemicals released
from both the immune cells and the disease can cause damage to the
heart. This causes the heart muscle to become swollen and thick and can
lead to heart failure.

Other causes of paediatric Myocarditis include allergies to certain
medication, exposure to certain chemicals, fungus, parasites, radiation,
and some drugs. Paediatric Myocarditis tends to be more severe in infants
and newborns than in children over 2 years old.

Symptoms

These can be mild at first and difficult to detect or can sometimes appear
suddenly. They include failure to thrive, anxiousness, feeding difficulties,
fever, heart failure, listlessness, low urine output and pale peripheries.
Symptoms in older children (>2) can include nausea, belly ache, chest
pain, cough, fatigue and swelling (legs, feet and face).

Investigations

This can be difficult to diagnose as symptoms tend to mimic other heart
and lung disorders. A rapid heartbeat might be heard or abnormal heart
sounds. It may also be possible to hear fluid at the lung bases due to
pulmonary oedema. Signs of infection may be present.

Chest radiograph: enlargement of the heard borders

Further tests: blood cultures, LFTs, U&Es, antibody screen, heart biopsy
and FBC.

The diagnosis is generally readily made of echocardiography.

Management

There is cure for Myocarditis so the aim of treatment is to minimise the
damage and treat symptoms until the condition resolves. Treating
symptoms with diuretics and ACE inhibitors and carvedilol (a B-
Page | 117

adrenoceptor blocking agent) is important. Antibiotics, steroids, anti-
inflammatory drugs and IV immunoglobulin all have their role to play in
protecting the heart.

Rest is important to prevent the heart from being over strained.


SBE

1. Be aware of the risk factors, causes and management

Sub-acute bacterial endocarditis can occur in all children of any age with
congenital heart disease (except secundum ASD), including neonates. The
risk is highest when there is a turbulent jet of blood, as with a VSD,
Coarctation of the aorta and persistent ductus arteriosus or if prosthetic
material have been inserted during surgery. This can be difficult to
diagnose but should be suspected in any child with a sustained fever,
malaise, raised ESR and unexplained anaemia or haematuria. The
presence of the classical peripheral signs cannot be relied upon.

Clinical features

Fever, anaemia, pallor, splinter haemorrhages, clubbing (late), necrotic
skin lesions, changing cardiac signs, splenomegaly, neurological signs of
infarcts, retinal infarcts, arthritis/arthralgia and haematuria (microscopic).

Diagnosis

Multiple blood cultures should be taken before antibiotics are started.
Detailed cross-sectional echocardiography may confirm the diagnosis by
identification of vegetations but can never but used to exclude the
diagnosis. Acute phase reactants are raised and can be used to monitor
response to treatment. The most common causative organism is a-
haemolytic streptococcus (streptococcus viridians).

Management

SBE is usually treated with high dose penicillin in combination with an
aminoglycoside for 6 weeks using IV therapy. If there is infected
prosthetic material then there is less chance of complete eradication and
surgical removal may be required.

Prophylaxis is the most important factor against endocarditis and involves
good dental hygiene. Antibiotic prophylaxis is no longer recommended in
the UK.


Page | 118

Gastroenterology

Breast and Formula Feeding

1. To be aware of the current NICE guidelines on infant feeding

The DOH and WHO recommend that breast feeding should be done
exclusively for the first 6 months of life. NICE guidelines recommend that
the first feed should ideally be given within the first hour after birth along
with baby to mother skin to skin contact. NICE guidelines also
recommend that skilled professional should be available to support breast
feeding and give appropriate counselling.

Currently only 78% of mother breast feed their child from birth but
infants are often weaned onto solids before 6 months. There are many
advantages to breast feeding including the ideal nutrition, life saving in
developing countries, reduces GI infection and necrotising enterocolitis,
enhances relationship and reduces the risk of insulin dependent diabetes,
hypertension and obesity later in life. There is also a reduction in breast
cancer risk in the mother.

The potential complications however are that an unknown quantity is
taken each time, there can be transmission of some diseases,
transmission of drugs and environmental contaminants, less flexible than
formula feeding, nutrient inadequacies and the risk of breast-milk
jaundice.


2. To be able to counsel parents on where to obtain advice/support with
relation to breast feeding

Within the first 24 hours a women should be given an information pack
about breast feedings, what to do and where to get help. There should
also be skilled support offered from the first feed, whether it be a
healthcare professional, mother-mother, or peer support. A womans
experience of breast feeding should be discussed at each contact to
establish if everything is going well and what concerns there may be. Help
will generally be available in hospital from the maternity nurses and
midwives followed by the health visitor whilst in the community. There
are also community nurses available for assistance, especially in those
first few days where correct breast feeding is so important to maintain the
supply of milk.

If weaning takes place before 6 months of age then wheat, eggs and fish
should be avoided, as should food high in salt, sugar, or with honey (risk
of botulism).

Page | 119


3. To have a knowledge of specialist formulas and indications for their use
i.e. whole protein vs. semihydrolysed vs. hydrolysed feed

Formula feeding is based on cows milk. Unmodified cows milk is
unsuitable as it contains too much protein, electrolytes and inadequate
iron and vitamins.

Breast-feeding or formula feeding is recommended for 12 months (with
weaning after 6 months) and pasteurised cows milk may be given from 1
year of age but is deficient in vitamins A, C and D and in iron. Hence
supplementation will be needed unless the infant is having a good diet of
mixed solids. Alternatively follow on formula can be used. Children should
receive full fat milk up to the age of 5.

A specialised formula may be used for cows milk protein
allergy/intolerance, lactose intolerance, CF, neonatal cholestatic liver
disease or after intestinal resection. In normal cows milk based formula
the protein is from cows milk, the carbohydrate is lactose and the fat is
long-chain triglycerides. In a specialised formula the protein is hydrolysed
cows milk protein, amino acids or from soya, the carbohydrate is glucose
polymer and the fat is a combination of medium and long chain
triglycerides (medium chain are directly absorbed without the needed for
bile or pancreatic enzymes).

A soya formula should not be used below 6 months due to its high
aluminium contents and phytoestrogens.

Hydrolysed formulae what are they, who uses them, and what are their
roles?

Hydrolysed formulae contain cows milk in which the milk proteins and
lactose have been broken down and are easier to digest.
Formulae can be either partially or extensively hydrolysed.

Partial hydrolysates

Partial hydrolysates are characterised by a larger proportion of long
chains (peptides). They are considered more palatable than extensively
hydrolysed formulas. However, they are intended for prophylactic use - to
reduce the risk of cows milk allergy in formula fed babies where there is
a family history of allergy. Partially hydrolysed formulas are not suitable
for treatment of cows milk allergy/intolerance as there have been many
reports of adverse reactions to these products.


Constipation
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1. To be able to take a history to differentiate simple constipation from
motility disorders such as Hirschprungs disease

Constipation is common in children and can be due to a variety of
different reasons. It is generally defined as the infrequent passing of dry,
hardened faeces often accompanied by straining or pain. The normal
frequency in an infant is four times a day, two times a day at the age of
one and by four the child will have an adult pattern. The main concerns
that need to be considered in babies are Hirschprungs, hypothyroidism,
hypercalcaemia and anorectal abnormalities. Constipation may also be
simply due to dehydration or reduced fluid intake or an anal fissure
causing pain. In older children it may relate to problems with toilet
training, unpleasant toilets or stress.

Examination will often reveal a palpable abdominal mass in an otherwise
well child. DRE should only be done by a paediatric specialist and if there
is a justified reason to do so.

Constipation arising acutely in young children, e.g. after a febrile illness,
usually resolves spontaneously or with mild laxatives and extra fluid. In
longer standing constipation the rectum can become over distended and
there is a loss of the feeling to defecate which can lead to involuntary
soiling.

Red flag symptoms are as following:
Failure to pass meconium within first 24 hours of life
Hirschprungs
Failure to thrive/grown Hypothyroidism, celiac disease, other
Gross abdominal distension Hirschprungs or other GI dysmotility
Abnormal lower limb neurology lumbosacral pathology
Sacral dimple spinal bifida occulta
Bruising and fissures sexual abuse

Simple constipation can be differentiated from motility disorders by its
period of onset, age, how often it is occurring, is there a reasonable
explanation etc. Motility disorders are generally chronic and some will be
seen from birth.


2. To understand the management of simple constipation/stool
withholding

Firstly there should be encouragement and close supervision of the child.
Psychological support can be given if indicated. If faeces are not palpable
then give a balanced diet and sufficient fluids. In this case maintenance
mild laxatives can be used.
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If faeces are palpable then start the child on mild laxatives such as
polyethylene glycol (movicol). If the stools pass spontaneously then
maintain a balanced diet and fluids. If this does not resolve then move
the child on to stimulate laxatives (e.g. senna or picosulphate) +/-
osmotic laxatives (e.g. lactulose). Finally if this is still not successful then
consider an enema (+/- sedation) or manual evacuation under general
anaesthetic.


Faltering Growth

1. To be able to take a history to determine diagnosis in case of failure to
thrive

Failure to thrive basically means suboptimal weight gain in infants and
toddlers. Mild failure to thrive is a fall across two centiles and severe
across three centiles. Between week 6 and 1 year of age only 5% of
children will cross two lines and only 1% will cross three. Most children
with failure to thrive have weight below the 2
nd
centile. Many
measurements should be taken over a period of time to assess failure to
thrive as a one of measurement gives little information. Any child under
the 0.4
th
centile should be reviewed as a matter of urgency. It can often
be difficult to determine the difference between a child failing to thrive
and a child who is normally thin and small. However normally thin infants
should have no symptoms, be responsive, happy and have a normal
development.

Another phenomenon is catch down weight where a baby is born at a
normal weight and then drops down to their genetically determined
weight which is completely normal for them. More than a 10% weight
drop needs hospital assessment.

There are many different causes of failure to thrive and these can be
classified into organic and non-organic. Less than 5% of children with
failure to thrive are found to have an organic cause. 5-10% of children
with failure to thrive will be on the child protection register or be subject
to abuse or neglect. Traditionally non-organic failure to thrive is
associated with a broad spectrum of psychosocial and environmental
deprivation.

Causes

Non-organic: feeding problems, lack of food offered, irregular feeding
times, conflict over feeding, problems obtaining food, low socioeconomic
status, poor bond with child, depression of mother, poor maternal
education and finally abuse
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Organic: impaired suck/swallow (cleft palate or other dysfunction) and
chronic illness (Crohns disease, chronic renal failure, CF, liver disease
etc).

Inadequate retention: vomiting, severe gastro-oesophageal reflux

Malabsorption: Coeliac disease, CF, cows proteins intolerance, cholestatic
liver disease, short gut syndrome, NEC

Failure to utilise nutrients: Downs syndrome, IUGR, prematurity,
infection, metabolic disorders etc

Increase requirements: thyrotoxicosis, CF, malignancy, chronic infection,
congenital heart disease, chronic renal failure

Clinical features and investigations

Detailed history and food diary, symptoms (vomiting, diarrhoea),
prematurity, problems at home, illness etc

Examination should focus at looking for the signs of organic disease but
investigations that might be useful include FBC, U&Es, LFTs, TFTs, CRP,
urine and stool cultures and chest x-ray plus a sweat test. Serum ferritin
is also worth checking as, if this is low, there may be loss of appetite.

Management

Usually carried out in the community and consists of assessing eating
behaviours and providing support. Direct practical advice following
observation may be useful. Hospital admission is usually only necessary in
children under 6 months with severe failure to thrive and who require
active refeeding. This will also show if the child can gain weight when fed
appropriately.

Outcome

Children with non-organic failure to thrive continue to under eat and this
can cause a lasting deficit with these children remaining under weight. In
contrast the impairment in development is only short term.


2. To understand the management of simple constipation/stool
withholding

See above duplication of objective

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Gastroenteritis

1. To be aware of current NICE guidelines on management of
gastroenteritis

A brief background: In the UK around 10% of under 5 year olds annually
present with gastroenteritis to health services. The most common cause
in developed countries is rotavirus accounting for up to 60% of cases in
children <2.

Diagnosis

Suspect gastroenteritis if there is a sudden change to loose water stools
or onset of vomiting. If gastroenteritis is suspected then consider recent
contact with someone with acute diarrhoea and vomiting and exposure to
a known source of enteric infection and recent travel abroad.

Any one of the following may indicate a diagnosis other than
gastroenteritis: temperature >38 (if under 3 months) or >39 (over 3
months), SOB, tachypnoea, altered state of consciousness, neck stiffness,
bulging fontanelle, non-blanching rash, blood and/or mucus in stools,
bilious vomit, severe abdominal pain and abdominal distension/rebound
tenderness.

A stool sample should be taken if you suspect septicaemia, there is
blood/mucus in the stool or the child is immunocompromised. Consider
microbiology if there has been recent travel abroad, the diarrhoea has not
improved in 7 days and if the diagnosis is uncertain.

Assessing dehydration

The following are at risk of dehydration:
Children <1 but especially under 6 months
Infants who were of low birth weight
Children who have passed 6 or more diarrhoea stools in 24 h
Children who have vomited 3 or more times in 24 h
Children who have not be able to have fluids before presentation
Infants who have stopped breast feeding during illness
Children with signs of malnutrition

Suspect hypernatraemia if: jittery movements, increased muscle tone,
hyperreflexia, convulsions, drowsiness or coma.

Clinical assessment of dehydration

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Fluid management

Assess dehydration state then do one of the following:

No clinical dehydration continue breast feeding, encourage fluid
intake, discourage fruit juices and carbonates drinks, use oral
rehydration solution
Clinical dehydration give fluid deficit replacement (50ml/kg) over
4 hours as well as maintenance fluids. Give ORS often and in small
amounts. Continue breast feeding and consider supplementing ORS
with other fluids if a poor intake. If poor intake and vomiting then
consider NG tube
Shock give rapid infusion of 0.9% saline and repeat if necessary.
If remaining shocked consider intensive care.

If the shock improves or clinical dehydration deteriorates then IV therapy
for rehydration can be done.
Replace fluid deficit and give maintenance fluids. Fluid deficit is
100ml/kg if initially shocked or 50ml/kg if not shocked. Also give
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maintenance fluids (100ml/kg for first 10kg, then 50ml/kg for next
10 then 20ml/kg for remainder up to 2.5L)
Give 0.9% saline +/- 5% glucose and monitor electrolytes, urea,
creatinine and glucose.
Continue breast feeding if possible

After rehydration give full strength milk and reintroduce usual solid foods.
Avoid fruit juices and carbonated drinks and advise parents on good
hygiene for next few days plus not to return child to school until 48 hours
after last episode.

Antibiotics and antidiarrhoeals

Do not give antidiarrhoeals
Do not routinely give antibiotics
Give antibiotics when suspect septicaemia, bacterial infection,
salmonella, C.diff or if immunocompromised.
Seek advice about antibiotics if there has been recent travel abroad.

Infrequently, following an episode of gastroenteritis, the introduction of a
normal diet results in a return of watery diarrhoea. Temporary lactose
intolerance may have developed, which can be confirmed by the presence
of non-absorbed sugar in the stools giving a positive Clinitest result. In
such circumstances, a return to an oral rehydration solution for 24 hours,
followed by a further reintroduction of a normal diet, is usually successful.


Gastro-oesophageal Reflux

1. Understand the concept of gastro-oesophageal reflux and the
pathophysiology

Gastro-oesophageal reflux is the involuntary passage of gastric contents
into the oesophagus. It is extremely common in infancy and is caused by
the inappropriate relaxation of the lower oesophageal sphincter as a
result of functional immaturity. A predominantly fluid diet, a mainly
horizontal posture and a short intra-abdominal length of oesophagus all
contribute. This is very common in the first year of life but, by 12 months,
nearly all the symptoms will have spontaneously resolved. This is
probably due to a combination of maturation of the lower oesophageal
sphincter, assumption of an upright posture and more solids in the diet.

Most infants with gastro-oesophageal reflux have recurrent regurgitation
or vomiting but are putting on weight normally and are otherwise well.

Investigations

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Gastro-oesophageal reflux is usually diagnosed clinically and no
investigations are required. However investigations may be implicated if
the history is atypical, if complications are present or if there is failure to
respond to treatment. Investigations include:
24h oesophageal pH monitoring
24h impedance monitoring
Endoscopy with biopsies
Contrast studies help support a diagnosis but are neither sensitive
or specific


2. Outline non-medical, medical and surgical management strategies

Uncomplicated gastro-oesophageal reflux has an excellent prognosis and
can be managed by parental reassurance, adding inert thickening agents
to feeds and positioning in a 30 degree head-up prone position after
feeds.
More significant disease is managed with acid suppression with either a H
2

receptor antagonist (e.g. ranitidine) or proton pump inhibitor (e.g.
omeprazole). These drugs reduce the volume of gastric contents and treat
acid-related oesophagitis. There is little evidence for drugs that enhance
gastric emptying (e.g. domperidone) but these may still be tried. If the
child fails to respond to any of these then another diagnosis, such as
cows milk protein allergy, should be sought and further investigation
performed.
Surgical management is reserved for children with complications
unresponsive to intensive medical treatment or oesophageal strictures. A
Nissen fundoplication is where there fundus of the stomach is wrapped
around the intra-abdominal oesophagus and can be performed as an
abdominal or laparoscopic procedure.

3. Understand rare complications (SIDS, aspiration, Barretts oesophagus)

General complications:
Failure to thrive from severe vomiting
Oesophagitis haematemesis, discomfort on feeding, heartburn
and iron deficiency anaemia
Recurrent pulmonary aspiration pneumonia, cough, wheeze,
apnoea in preterm infants
Dystonic neck posturing (Sandifer syndrome)
Apparent life-threatening events (ALTE)

SIDS is a large topic and is covered in its own objective. It is associated
with gastro-oesophageal reflux.

Aspiration is a complication as mentioned above

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Barretts oesophagus is a condition that is very rare in children and
mostly seen in adults. It is where the lower oesophagus is repeatedly
damaged by acid and this leads to the cells changing from squamous to
columnar and can predispose to cancer. This condition is managed well
with acid suppressing drugs.


Jaundice

1. Understand the aetiology and pathogenesis of conjugated and
unconjugated jaundice

Unconjugated:
Breast milk jaundice
Infection
Haemolytic anaemia
Hypothyroidism
High gastrointestinal obstruction
Criger-Najjar syndrome

Conjugated:
Bile duct obstruction biliary atresia or choledochal cyst
Neonatal hepatitis syndrome CF, alpha 1 antitrypsin deficiency,
congenital infection, inborn error etc
Intrahepatic biliary hypoplasia

Overview of conjugation

The breakdown of haemoglobin and other haem proteins turns into
unconjugated bilirubin bound to albumin. If there is an excess of
unconjugated bilirubin that saturates the albumin then it is free to cross
the BBB and deposit itself in the basal ganglia, causing kernicterus. The
unconjugated bilirubin normally enters the liver and is conjugated before
being excreted in the bile. It is the conjugated bilirubin (water soluble)
that gives the urine and stools their dark colour. Reabsorption of bilirubin
from the gut is increased when milk intake is low.

Jaundice

Over 50% of all newborn infants become visibly jaundice and this is
because:
There is a marked physiological release of haemoglobin from the
breakdown of red cells because of the high Hb concentration at birth
The red cell life span of newborn infants (70 days) is shorter than in
adults (120 days)
Hepatic bilirubin metabolism is less efficient in the first few days of
life
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Kernicterus

This is the encephalopathy resulting from the deposition of unconjugated
bilirubin in the basal ganglia and brainstem nuclei. It usually occurs when
the level of bilirubin exceeds the albumin binding capacity in the blood. It
has a neurotoxic effect and its effects can vary in severity from a
transient disturbance to severe damage and death. Manifestations include
poor feeding and lethargy, irritability, increased muscle tone and an
arched back. Infants who survive may develop choreoathetoid cerebral
palsy, learning difficulties and sensorineural deafness.

Classified by age of onset

Jaundice <24 hours of age
Haemolytic disorders: rhesus haemolytic disease, ABO
incompatibility, spherocytosis and G6PD deficiency can all cause
this
Congenital infection: should include other abnormal signs such
as growth restriction, hepatosplenomegaly and thrombocytopenic
purpura

Jaundice at 2 days to 2 weeks of age
Physiological jaundice: normal for most infants
Breast milk jaundice: multifactorial causes but may involve an
increase in enterohepatic circulation (unconjugated). The most
common cause affecting up to 15% of healthy breast fed infants
and gradually disappears by 4-5 weeks
Dehydration: exacerbated if milk intake is poor from a delay in
establishing breast feeding. Sometimes IV fluids will be needed to
correct dehydration
Infection: an unconjugated hyperbilirubinaemia from poor fluid
intake, haemolysis and reduced hepatic function

Jaundice at >2 weeks of age

Jaundice in babies over 2 weeks (or 3 weeks in preterm) is called
persistent neonatal jaundice. It may be caused by biliary atresia
(conjugated) which is important to diagnose promptly as surgical
treatment is adversely affected by delay.
However most persistent neonatal jaundice is unconjugated and is due to
breast milk jaundice, infection or congenital hypothyroidism.

Conjugated hyperbilirubinaemia is suggested by the baby passing dark
urine and unpigmented pale stools. Hepatomegaly and poor weight gain
are other clinical signs that may be present.

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2. Be aware of RCPCH/NICE guidelines for investigation and management
of jaundice

Investigations

Inspection for jaundice: check the baby in a bright and ideally natural
light and examine the sclera, gums, and blanched skin. Do not rely on
visual appearance alone to estimate bilirubin levels.

If the baby is thought to have jaundice then they should be regularly
monitored and visually inspected. If there is visible jaundice then record
the serum bilirubin within 2 hours (if within the first 24 hours, otherwise
within 6 hours). If within the first 24 hours then continue to measure
every 6 hours whilst receiving treatment until the level is below the
threshold for treatment and is stable and falling.

To manage the hyperbilirubinaemia the infant can have phototherapy, be
treated with exchange transfusion or simply be monitored depending on
the situation and bilirubin levels.

Initially the bilirubin level should be measured using a transcutaneous
bilirubinometer and if this shows a level greater than 250 micromol/litre
then confirm this with a serum sample. If the baby is less than 24 hours
old or under 35 weeks gestation then just use serum.

Phototherapy

This is when a wavelength of light (450nm) is used to convert the
unconjugated bilirubin into a harmless water soluble pigment. It is
delivered by an overhead source and the child should be position supine
with maximal skin exposed. Their eyes should be protected from the
bright light.

The level of bilirubin dictates what form of treatment they get. If the level
of bilirubin is not extremely high then start on a single phototherapy dose
encouraging breaks, normal feeding and hydration. If the level drops and
is below the treatment threshold then stop, if it is not falling then move
onto continuous phototherapy. Here they should not be interrupted for
feeding but be given it IV/enteral and their hydration should be
monitored. If the level is falling then it can be stepped down to single
phototherapy but if not then continue. If there is no change then consider
other treatment.

Exchange transfusion

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This is used when the bilirubin levels are dangerously high. It involves
transfusing the child with donor blood up to twice its circulating volume
(so effectively exchanged twice). This aims to remove the bilirubin but
does carry some morbidity and mortality risk. Rarely done.

During this the continuous phototherapy should be continued. The child
should then have its bilirubin checked again and if too high then start the
exchange. The levels should then be checked within two hours of the
exchange and treated accordingly.


3. Understand the importance of stool colour in assessing a child with
jaundice

Stool colour is obtained from conjugated bilirubin. If the stools are very
pale then this indicates a lack of conjugated bilirubin. This is most likely
due to a biliary tree or post hepatic obstruction and hence helps to locate
the problem.


4. Be aware of biliary atresia and know the features within history
examination and investigation findings that would point you towards this
diagnosis

Biliary atresia occurs in 1 in 14,000 live births. It is a progressive disease
in which there is a destruction or absence of the extra hepatic biliary tree
and intrahepatic biliary ducts. This leads to chronic liver failure and death
unless surgical intervention is performed. Babies with biliary atresia have
a normal birth weight but fail to thrive as the disease progresses. They
are usually mildly jaundices and following the meconium they pass pale
stool and dark urine. Hepatomegaly is often present and splenomegaly
will soon develop secondary to portal hypertension. Other signs will
include bruising and failure to thrive.

Standard LFTs are of little value in the differential diagnosis. A fasting
abdominal ultrasound may demonstrate a contracted or absent
gallbladder, though it may be normal. A radioisotope scan with TIBIDA
shows good uptake by the liver, but no excretion into the bowel. Liver
biopsy will demonstrate features of extrahepatic biliary obstruction,
although features may overlap with those of neonatal hepatitis, especially
in the early stages of disease. The diagnosis is confirmed at laparotomy
by operative cholangiography which fails to outline a normal biliary tree.

Treatment is surgical and involves joining a loop of jejunum to the cut
surface of the porta hepatis. The longer that is left, the less chance of
achieving normal bile drainage.

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Coeliac Disease

1. Be aware of NICE guidelines for diagnosis and management of coeliac
disease

Coeliac disease is an Enteropathy in which a component of gluten
provokes a damaging immunological response in the proximal small
intestinal mucosa. The incidence of classical coeliac disease, diagnosed in
children on the basis of clinical symptoms, is around 1 in 3000 in Europe.
The classical presentation is of malabsorptive symptoms at 8-24 months
of age after the introduction of wheat containing products. There is failure
to thrive, abdominal distension, buttock wasting, abnormal stools and
general irritability. However children are now more likely to present in
later life with anaemia and non-specific gastrointestinal symptoms.

Signs and symptoms: chronic or intermittent diarrhoea, failure to thrive,
persistent or unexplained gastrointestinal symptoms including diarrhoea
and vomiting, prolonged fatigue, recurrent abdominal pains, sudden or
unexpected weight loss and unexplained iron deficient anaemia.

Conditions which increase the likelihood of coeliac disease include:
autoimmune thyroid disease, IBS, dermatitis herpetiformis, type 1 DM,
first degree relatives with coeliac disease, Downs syndrome and about 20
others

NICE guidelines are a bit complicated and involve a huge flowchart. The
general idea is:
If the person is on a gluten diet with the signs and symptoms then offer
serological testing. Also consider offering the test if the person has any of
the conditions above. The person should be advised that they need to eat
gluten in more than one meal every day for at least 6 weeks before
serological testing. They should not start a gluten free diet until diagnosis
is confirmed by intestinal biopsy. If the IgA test is negative then check for
IgA deficiency and maybe refer for biopsy or exclude diagnosis. If positive
then refer for a biopsy.

NICE hasnt mentioned management much but it is basically avoiding
gluten for life. If the disease presents before the age of two then a gluten
challenge can be given later in life to check if sensitivity remains. At the
start the serological markers will be negative and will become positive at
the end of the test period.


Colic

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1. Understand the concept of colic and sources of parental advice and
support

Colic is a common symptom complex which occurs during the first few
months of life. Paroxysmal, inconsolable crying or screaming often
accompanied by drawing up the knees and passage of excessive flatus
takes place several times a day, particularly in the evening. There is no
firm evidence that the cause is gastrointestinal, but this is often
suspected. The condition occurs in up to 40% of babies. It typically occurs
in the first few weeks of life and resolves by 4 months of age. The
condition is benign but it is very frustrating and worrying for parents and
may precipitate non-accidental injury in infants already at risk. Support
and reassurance should be given. Gripe water is often recommended but
is of unproven benefit. If severe and persistent, it may be due to a cows
milk protein allergy or gastro-oesophageal reflux and an empirical 2-week
trial of a whey hydrolysates formula followed by a trial of anti-reflux
treatment may be considered.

The NHS recommends going to the GP if you are worried so advice should
be given there. There is also the health visitor, family and friends. There
is also a group called CRY-SIS which can give support to mothers who
find their babies always crying. Support is also available online on the
birth to five section of the NHS website.


Cows Milk Protein Enteropathy

1. Understand the suggestive features in history and recommended
management of infant with cows milk protein intolerance

Cows milk protein allergy is an immune response that can be reproduced
and is most likely IgE mediated. Cows milk protein intolerance is not
immune mediated and is said to be undefined because an immune
component is not clearly identifiable. Sensitivity and allergy are said to be
the most common allergy seen in infancy with incidence around 1.8-
7.5%.

These children can present with a variety of clinical features, most
commonly including cutaneous reactions (urticaria, atopic dermatitis,
angioedema and contact rashes), GI reactions (nausea, vomiting, colic,
diarrhoea, colitis, constipation and transient enteropathies) and
respiratory reactions (asthma, wheezing, rhinoconjunctivitis, laryngeal
oedema, otitis media and anaphylaxis).

A history of atopic disease in the family is more common with children
affected by this allergy.

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There is also a latency associated with ingestion and symptoms. Those
who have an immediate reaction are more likely to develop rashes and
respiratory problems, GI symptoms are more likely after a few hours and
a cough or wheeze after 24 hours.

Management

If breast feeding then eliminate cows milk protein in the diet and take
calcium supplements instead (avoid eggs). If there is no improvement
then consider other options, if there is an improvement then try
reintroduction and go from there. If there is a suspicion of a severe
allergy then refer to special services. If formula fed then the process is
similar and involves changing the formula to an amino acid formula.

Testing clinically will involve a skin prick test with CMP and a blood test
for total IgE and specific IgE for CMP.


Crohns Disease/Ulcerative Colitis

1. Be aware of presenting features

Crohns disease generally presents with lethargy and ill health, not
necessarily with GI symptoms (particularly in older children). Symptoms
may be mistake for psychological problems or anorexia nervosa. Other
presenting features may include growth failure, puberty delay, abdominal
pain, diarrhoea, weight loss and fever.

Ulcerative colitis usually presents with rectal bleeding, diarrhoea and
colicky pain. Weight loss and growth failure may occur although this is
less frequent than in Crohns disease.


2. Understand the difference in pathology and clinical signs/symptoms of
Crohns and UC

Crohns disease is a transmural, focal and subacute or chronic
inflammatory disease most commonly affecting the distal ileum and
proximal colon (but can affect anywhere from mouth to anus). There is
initially inflamed and thickened bowel which subsequently forms strictures
as well as fistulae between adjacent bowel loops. Symptoms are listed
above but addition signs include oral lesions, perianal skin tags, uveitis,
arthralgia, erythema nodosum and iron deficient anaemia. Diagnosis is
based on endoscopic and histological findings on biopsy. The histological
hallmark is the presence of non-caseating epithelioid cell granulomata.
Small bowel imaging may reveal narrowing, fissuring, mucosal
irregularities and bowel wall thickening.
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Ulcerative colitis is a recurrent, inflammatory and ulcerating disease
involving the mucosa of the colon. The symptoms are listed above but
other signs include erythema nodosum and arthritis. The diagnosis is
made on endoscopy and on the histological features after exclusion of
infective causes of colitis. There is confluent colitis extending from the
rectum proximally for a variable length. In contrast to adults, who have
colitis usually confined to the distal colon, 90% of children have
pancolitis. Histology shows mucosal inflammation, crypt damage and
ulceration.


3. Be aware of extra systemic manifestations

Crohns disease: oral lesions, perianal skin tags, uveitis, arthralgia,
erythema nodosum, growth failure, clubbing and osteoporosis

UC: aphthous ulcers, uveitis, episcleritis, seronegative arthritis,
ankylosing spondylitis, erythema nodosum, DVT and clubbing


4. Be aware of main treatment options

Crohns disease is primarily treated with nutritional therapy (where the
normal diet is replaced by whole protein modular feeds for 6-8 weeks).
This is effective in 75% of cases. Systemic steroids may be required if this
is ineffective. Relapse is common and immunosuppressant medication
(azathioprine, mercaptopurine and methotrexate) may be required to
maintain remission. Anti-tumour necrosis factor agents (infliximab or
adalimumab) may be needed when conventional treatments have failed.
Long term supplemental enteral nutrition (often by overnight
NG/gastrostomy feeding) may be helpful in correcting growth failure.
Surgery may be needed to treat the complications of Crohns disease such
as obstruction, fistulae, abscess formation or severe localised disease
unresponsive to medication. In general the long term prognosis for
Crohns disease beginning in childhood is good and most patients lead
normal lives, despite occasional relapse.

Ulcerative colitis can be treated with aminosalicylates in mild disease
(balsalazide and mesalazine) to induce remission and for maintenance.
Disease confined to the rectum and sigmoid colon may be managed with
topical steroids but more extensive disease will require systemic steroids
for acute exacerbations and immunomodulatory therapy (azathioprine) to
maintain remission (sometimes in combination with a low dose systemic
steroid). Severe fulminating disease is a medical emergency and requires
treatment with IV fluids and steroids. If this fails to induce remission the
ciclosporin may be used. A colectomy with an ileostomy or ileorectal
Page | 135

pouch is undertaken for severe fulminating disease which may be
complicated by a toxic megacolon, or for chronic poorly controlled
disease. There is also an increased incidence of adenocarcinomas of the
colon in adults so regular screening is started 10 years after diagnosis.


Encopresis and Soiling

1. Be aware of features of history that differentiate soiling due to
constipation and overflow and functional encopresis

Encopresis can be classified by DSM as with constipation and overflow or
without. There definitions are unclear but I will take functional encopresis
to be a more psychological condition rather than physiological although
most sources of information considerably overlap these.

The cause of encopresis is not found in about 90% of cases and is defined
as a child over 4, who was previously toilet trained, passing stools into
their underwear. These cases are due to functional constipation that has
no known cause. The constipation can result from anything but starts a
vicious cycle when the stools are retained by the child to prevent pain,
but in the colon they lose more water so will be even more painful. This
cycle leads to the distension of the colon and loss of sensation to defecate
but also distends the rectal sphincter and stools can be forced out if there
is overloading. Around the faeces may also be soft stools due to overflow
encopresis (where the colon is completely full so stools force their way
out).

Functional encopresis on the other hand (this may be completely wrong)
is a rare form and is thought to be more psychological in nature. This
includes things such as never being toilet trained, a toilet phobia,
manipulative soiling or IBS.


2. Be aware of sources of support for children and families with soiling
and encopresis

Depending on the cause the GP will usually be the first person to see. A
large proportion of these children will end up seeing paediatric
gastroenterologists. There is also psychological and parental help in
training the child and parent to reward good behaviour. There is also a
wide variety of online information and even encopresis support groups for
mothers.


Food intolerance

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1. Understand how to take a history to elicit symptoms of and risk factors
for food intolerance

A food allergy occurs when a pathological immune response is mounted
against a specific food protein. It is usually IgE mediated but may not be.
A non-immunological hypersensitivity reaction to a specific food is called
food intolerance. Food allergy is usually primary which means a tolerance
has never been developed. Presentation will vary with age but in infants
the most common foods to cause a problem are milk, eggs and peanuts
and in older children peanuts, tree nuts, fish and shellfish. Food allergy
can also be secondary where children initially are tolerant to a food and
later become allergic to it. A secondary food allergy can be due to cross
reactivity between proteins (particularly in fruit and nuts).

IgE mediated food allergies have a history of allergic symptoms varying
from urticaria to facial swelling to anaphylaxis, usually occurring within
10-15 minutes after ingestion of food. It is often the first occasion the
food is knowingly ingested. Non-IgE mediated food allergy usually
presents with GI symptoms after many hours and these include
diarrhoea, vomiting, abdominal pain and sometimes failure to thrive. Colic
or eczema may also be present and it sometimes presents with blood in
the stools in the first few weeks of life.

Food intolerance is incredibly common and its diagnosis is usually based
on the period of onset between ingestion and symptoms as well as
detailed tests. However these allergies can often be very difficult to
pinpoint. Food allergy on the other hand affects around 6% of children
and its time to onset is much quicker. These allergies generally have a
family history and are easier to diagnose.

Diagnosis usually involves a skin-prick test and measurement of specific
IgE antibodies in the blood. If indicated an intestinal biopsy may be
obtained to support a diagnosis. The gold standard test is a double
blinded placebo controlled food challenge.


2. Understand difference between type 1 and type 2 reactions and their
management

A type 1 reaction is usually instant and is where the body suffers notable
itching, swelling, hives and breathing difficulties. Whilst most of these
reactions are mild, some can be more serious and result in an
anaphylactic shock.

A type 2 reaction is not immediate which makes them difficult to detect.
Different foods breakdown at different rates so a reaction can be
anywhere from 24-72 hours after ingestion.
Page | 137


The management of type 1 and type 2 reactions is to avoid the food in
question. This can be difficult but all EU packaging legally should be
labelled if foods contain common allergens. The advice of a paediatric
dietitian is essential to aid parents avoidance of foods whilst avoiding
nutritional deficits. In addition the child and family need the ability to
manage an allergic attack so a written self management plan and training
are essential. Drug management for mild attacks (no cardiorespiratory
symptoms) is with oral antihistamines whilst a severe reaction may
require epinephrine (adrenaline) given IM with an auto-injector (e.g.
Epipen or Anapen). Food allergy to cows milk and eggs often resolves in
early childhood whilst allergies to nuts and seafood usually persist
through to adulthood.


Functional Abdominal Pain

1. Understand history, examination and investigation findings that would
point to diagnosis of functional abdominal pain

Recurrent abdominal pain (RAP) is a common childhood problem and it is
often defined as pain sufficient to interrupt normal activities and lasts for
at least 3 months. It occurs in about 10% of school aged children and a
cause is only identified in <10%. The pain is characteristically
periumbilical and the children are otherwise well. This may be a
manifestation of stress, or it may become part of a vicious cycle of
anxiety with escalating pain leading to family distress and demands for
increasingly invasive investigations. There is also evidence that anxiety
may lead to altered bowel motility, which may be perceived by the child
as pain.
It is recognised that many of these children will have one of three distinct
symptom constellations resulting from functional abnormalities of gut
motility or enteral neurons: IBS (most common), abdominal migraine or
functional dyspepsia.

Management

The aim here is to find any serious cause without subjecting the child to
unnecessary investigations whilst reassuring the parents and child. A full
examination should include inspecting the perineum for anal fissures and
assessing a childs growth. A urine microscopy and culture is mandatory
as urinary tract infections may cause pain in the absence of other
symptoms or signs. An abdominal ultrasound is particularly useful is
excluding gall stones and pelviureteric junction obstruction. Most organic
causes are rare so further investigations should be performed only if
clinically indicated.
Page | 138

It is important to make the distinction between serious and dangerous to
the parents. These disorders can be serious if, for example, they lead to
substantial loss of schooling, but they are not dangerous. The long term
prognosis is that about rapidly recover, take some months to
recover and continue or return in adulthood as a migraine, IBS or
functional dyspepsia.

Abdominal migraine

This is abdominal pain associated with headaches and in some children
the abdominal pain predominates. The abdominal pain is midline and
associated with vomiting and facial pallor. There is usually a personal or
family history of migraine.

Irritable bowel syndrome

This is a disorder, also common in adults, that is associated with altered
gastrointestinal motility and an abnormal sensation of intra-abdominal
events. Symptoms may occur following a gastrointestinal infection and
pressure studies have shown abnormally large bowel wall contractions.
Studies have also shown that the bowel wall has increased sensitivity to
pain during these attacks. Therefore it is thought that these two factors
interplay with psychosocial factors such as stress and anxiety. There is
often a family history and symptoms include:
Abdominal pain, often worse before or relieved by defecation
Explosive, loose or mucousy stools
Bloating
Feeling of incomplete defecation
Constipation (often alternating with normal or loose stools)

Functional dyspepsia

As well as having symptoms of peptic ulceration (but normal mucosa on
GI endoscopy), children with functional dyspepsia have rather more non-
specific symptoms, including early satiety, bloating and postprandial
vomiting and may have delayed gastric emptying as a result of gastric
dysmotility. Treatment is difficult but some children respond to a
hypoallergenic diet.


2. Understand the role of multidisciplinary team in its management

Doctor: diagnose, investigate treat etc
Nurses: provide reassurance, advice, monitor
Dietician: help with weight gain, nutrition
Psychiatrist: depends on the problem but may have a role

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Gastritis

1. Understand the symptoms, signs and aetiologies

Usually H.pylori doesnt cause a problem in children however, if left
untreated, it can cause gastritis, a peptic ulcer and stomach cancer in
later life. Most H.pylori infections are silent and produce no symptoms.
However when they do cause symptoms they are of gastritis or peptic
ulcer disease. Symptoms of gastritis in children may include nausea,
vomiting and frequent complaints about abdominal pain. However these
complaints can be seen in many other childhood illnesses. Peptic ulcers
can occur in older children and signs include a gnawing/burning feeling in
the abdomen, usually in the area below the ribs and above the navel. This
pain is often reduced by eating food, drinking milk or taking antacid
medication. The ulcers can also bleed causing haematemesis or melena.
Other general symptoms include indigestion, bloating, hiccups and loss of
appetite.

The prevalence in developing countries is high at around 3-10% of the
population each year compared with about 0.5% in developed countries.

There are also other causes of gastritis which include pernicious anaemia,
infections and bile reflux.


2. Be aware of role of helicobacter pylori

H.pylori is thought to be the cause of most cases of gastritis as well as
duodenal and peptic ulcers. It can be readily identified on a urease breath
test (
13
C). Stool antigens may be positive in infected children too but
serological testing is unreliable in children. Children with suspected
H.pylori should have PPIs given and, if proven, then a course of
amoxicillin and metronidazole or clarithromycin.


3. Be aware of lifestyle factors (e.g. alcohol/smoking)

I assume these are aimed at older children. They include:
Eat smaller and more frequent meals
Avoid irritant foods (acidic, spicy, fried)
Drink alcohol in moderation
Avoid NSAIDs
Manage stress
Reduce smoking


Page | 140

Hirschprungs Disease

1. Understand aetiology, presenting features and management options

Hirschprungs disease affects around 1 in 5000 births and affects boys 4
times as often as girls. About 30% have a genetic history of the disease
and it is thought that Hirschprungs may be associated with other
conditions include Downs syndrome, multiple endocrine neoplasia,
malrotation and gastric diverticulum.

Hirschprungs disease is the absence of ganglion cells from the myenteric
and submucosal plexuses of part of the large bowel which results in a
narrow and contracted segment. The abnormal bowel extends from the
rectum for a variable distance proximally, ending in a normally innervated
dilated colon. In 75% of cases the lesion is confined to the rectosigmoid
but in 10% then entire colon is involved. Presentation is generally in the
neonatal period with intestinal obstruction heralded by failure to pass
meconium within the first 24 hours of life. Abdominal distension and later
bile-stained vomit develop. On rectal examination there may be a
narrowed segment and withdrawal of the examining finger often releases
a gush of liquid stool and flatus. In older infants and children this presents
as chronic constipation that is resistant to conventional treatments. They
may rarely have overflow or constipation incontinence and often suffer
from early satiety and abdominal discomfort leading to poor nutrition and
poor weight gain.

Management

Diagnosis can be confirmed by demonstrating the absence of ganglionic
cells, in that area of colon, together with the presence of large
acetylcholinesterase-positive nerve trunks on a suction rectal biopsy.
Anorectal manometry or barium studies may be useful in giving the
surgeon an idea of the length of aganglionic segment but are unreliable
for diagnostic purposes.

Treatment is surgical and usually involves an initial colostomy followed by
anastomosing normally innervated bowel to the anus.


2. Be aware of serious/life threatening complications (enterocolitis) and
presenting features

Occasionally infants present with life-threatening Hirschsprung
enterocolitis (inflammation of the colon and small intestines) during the
first few weeks of life, sometimes due to C.diff infection. The mortality
here is 25-30% which is almost all the mortality from Hirschsprung
disease. It presents with abdominal pain, fever, foul smelling and/or
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bloody diarrhoea as well as vomiting and can lead to sepsis, transmural
intestinal necrosis and perforation. Broad spectrum IV antibiotics and
fluids should be administered immediately and the patient monitored
closely.


Malabsorption

1. Understand what is meant by the term malabsorption

Malabsorption is fairly self explanatory but is a disorder that affects the
digestion or absorption of nutrients and manifests as abnormal stools,
failure to thrive (or poor growth) and specific nutrient deficiencies either
singly or in combination.

In general parents know when the childs stools have become abnormal,
with the true malabsorption stool being difficult to flush and having a very
strong odour. In general colour is a poor guide to abnormality. A dietician
assessment is vital as the child may simply have poor calorific intake
rather than a malabsorption syndrome and hence investigations would be
inappropriate here. Some disorders affecting the small intestinal mucosa
or pancreas may lead to malabsorption of many nutrients (pan-
malabsorption), whereas others are highly specific e.g. Zinc
malabsorption in acrodermatitis enteropathica.


2. Be able to take a history/undertake examination to determine
differential diagnosis in case of suspected malabsorption

Probably the commonest malabsorption syndrome is coeliac disease which
has been discussed in detail previously.

Food allergy or intolerance can also be a cause as previously described.

Other causes include:
Cholestatic liver disease or biliary atresia bile salts no longer enter
the duodenum in the bile. This leads to defective solubilisation of
the products of triglyceride hydrolysis. Fat and fat-soluble
malabsorption result.
Lymphatic leakage or obstruction chylomicrons (containing
absorbed lipids) are unable to reach the thoracic duct and the
systemic circulation, e.g. intestinal lymphangiectasia (abnormal
lymphatics).
Short bowel syndrome small-intestinal resection, due to
congenital abnormalities or necrotising enterocolitis, leads to
nutrient, water and electrolyte malabsorption
Page | 142

Loss of terminal ileal function e.g. resection or Crohns disease.
Absent bile acid and vitamin B
12
absorption
Exocrine pancreatic dysfunction e.g. CF Absent lipase, protease
and amylase lead to defective digestion of triglyceride, protein and
starch (pan-nutrient malabsorption).
Small-intestinal mucosal disease Loss of absorptive surface area
e.g. coeliac disease. Specific enzyme defects e.g. lactase deficiency
following gastroenteritis is common in Black and Oriental races.
Specific transporter defects e.g. glucose-galactose malabsorption
and acrodermatitis enteropathica.


3. Be aware of first line investigations

Review by a dietician is mentioned

Stool samples check for pH (carbohydrate malabsorption), bile acids,
large proteins, parasites and other infections

Urinalysis the kidney shares many of the same transporters as the gut
so may show high concentrations of certain substances here. There may
also be evidence of infection

Depending on what condition is suspected there are a whole host of
investigations. The common ones are blood tests and endoscopy or biopsy
of the intestine. See the specific conditions for more detail on their
management.


Malnutrition

1. Understand what is meant by this term

Malnutrition is common worldwide and is directly or indirectly responsible
for a third of all deaths in children under 5. Specific nutritional
deficiencies, particularly iron, remain common in developed countries.
Malnutrition occurs in 20-40% of children in specialist hospitals and
particularly at risk are those with chronic illness e.g. preterm, congenital
heart disease, malignant disease, IBD, chronic renal failure, cerebral palsy
or chronic GI conditions. Malnutrition in older children may result from
eating disorders.

Assessment is divided into past and present dietary intake,
anthropometry and laboratory assessments.

Dietary assessment is important and parents are asked to record the food
the child eats during several days. This gives a good guide to food intake.
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In addition to weight and height measurements, the skin fold thickness of
the triceps reflects subcutaneous fat stores. This can however be difficult
to measure in young children so mid-upper arm circumference (which is
related to skeletal muscle mass) can be measured easily and repeatedly.
Mid-upper arm circumference is also independent of age in children 6
months to 6 years. It is especially useful for screening children in the
community.

Laboratory investigations are useful to detect early physiological
adaptations to malnutrition, but clinical history, examination and
anthropometry are of greater value than any single biochemical or
immunological measurement.

The consequences of malnutrition can be severe as it is a multisystem
disorder. When severe the immunity is impaired, wound healing is
delayed and operative morbidity and mortality increased. Malnutrition
worsens the outcome of illness and malnourished children are less active,
less exploratory and more apathetic. Prolonged and profound malnutrition
can cause permanent delay in intellectual development.

Nutritional support

Enteral nutrition used when the digestive tract is functioning, as it
maintains gut function and is safe. Feeds are given nasogastrically, by
gastrostomy or occasionally via a feeding tube in the jejunum. Feeds are
often given continuously overnight, allowing the child to feed normally in
the day. If long term supplemental nutrition is needed then a gastrostomy
is preferred to avoid the discomfort of repeatedly changing NG tubes.

Parenteral nutrition can be used exclusively or as an adjunct to enteral
feeds to maintain and/or enhance nutrition. The aim here is to provide a
nutritionally complete feed in an appropriate volume of IV fluid. However
this is a complex and expensive therapy that requires a lot of professional
input. Short term it can be given by a peripherally situated cannulae but
long term a central venous catheter is needed. Complications include
those of vascular access, sepsis and liver disease from the parenteral
nutrition.


2. Understand importance of nutrition scoring (MUST tool and paediatric
equivalents)

The MUST tool (Malnutrition universal screening tool) is a five step tool to
identify ADULTS who are malnourished, at risk of malnourishment or are
obese. It also includes management guidelines that can be used to
develop a care plan. There are five steps to the MUST tool which are:
Step 1: Measure height and weight to get a BMI score
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Step 2: Note percentage unplanned weight loss and score using
table provided
Step 3: establish acute disease effect and score
Step 4: add scores from steps 1, 2 and 3 together to obtain an
overall risk of malnutrition.
Step 5: use management guidelines and/or local policy to develop a
care plan

Using a score, such as this, to assess nutrition is vital in all patients to
help indicate those that are risk. It has also been shown to be a good
indicator of mortality so can be used to indicate where interventions are
needed.

A similar score called the Paediatric Yorkhill Malnutrition Score is available
for use on children. It is based on BMI, weight loss, reduced dietary
intake and the risk of the childs nutrition being affected by admission.


3. Understand the concept and presenting features of protein/energy
malnutrition (Kwashiorkor)

Globally over 1/3 of childhood deaths are attributable to under nutrition,
which leaves the child susceptible and unable to survive common
infections. The WHO recommends that nutritional status is expressed as:
Weight for height a measure of wasting and an index of acute
malnutrition. Severe malnutrition is weight for height 3 standard
deviations below the median plotted on the WHO standard growth
chart. This corresponds to a weight for height <70% below the
median.
Mid upper-arm circumference (MUAC) - <115mm is severe
malnutrition
Height for age a measure of stunting and an index of chronic
malnutrition.

Severe protein-energy malnutrition in children usually leads to one of two
conditions:
Marasmus children have a weight for height <70% of normal and
have a wasted, wizened appearance. Oedema is not present. Skin
fold thickness and mid-arm circumference are markedly reduced
and affected children are withdrawn and apathetic.
Kwashiorkor another manifestation of severe protein malnutrition
and is where there is generalised oedema as well as severe wasting.
Because of the oedema, the weight may not be as severely
reduced. In addition there may be a flaky-paint skin rash with
hyperkeratosis and desquamation, a distended abdomen and
enlarged liver, angular stomatitis, hair which is sparse and
Page | 145

depigmented, diarrhoea, hypothermia, bradycardia and hypotension
and a low plasma albumin, potassium, glucose and magnesium.

Kwashiorkor is more common in societies where children are not weaned
off breast milk until 12 months and then move on to a diet relatively high
in starch. It often develops after an acute inter-current infection such as
measles or gastroenteritis.


Mesenteric Adenitis

1. Understand the concept and differential diagnosis

Mesenteric adenitis means inflamed lymph glands in the abdomen which
cause abdominal pain. It is not usually serious and gets better without
treatment. Mesenteric adenitis is a fairly common cause of abdominal pain
in children aged less than 16 years but is less common in adults. It is
probably caused by an infection which is much more likely to be viral,
although a bacterial infection can also be a cause. The following are
typical symptoms:
Pain in the abdomen usually centrally or in the right iliac fossa.
Fever and generally unwell
Nausea and/or diarrhoea
Sore throat or symptoms of a cold before the pain started

Diagnosis is usually clinically and by ruling out anything else that might
be causing the pain. It is difficult to prove as the glands are deep in the
abdomen and cannot be palpated. If the doctor is unsure then a period of
observation (a few hours) may be suggested.

The main two differentials are ectopic pregnancy (obviously only in older
girls) and appendicitis. To rules these out a series of blood tests, a
pregnancy test and a PR may be required. Occasionally surgery may be
required to investigate (a laparotomy usually).

No treatment is required for mesenteric adenitis and it should go by itself.
It is also much less common with age so attacks will become less
frequent.


Overfeeding

1. Know recommended intake for infants 0-3 months, 3-6 months and 6-
12 months

The nourishment a child requires per unit body size is greatest in infancy
because of their rapid growth during this period. At 4 months of age 30%
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of an infants energy intake is used for growth but by 1 year of age this
has fallen to 5%. The risk of growth failure from restricted energy intake
is therefore greater in the first 6 months of life than in later childhood.

Age Energy (kcal/kg/24h) Protein (g/kg/24h)
0-6 months 115 2.2
6-12 months 95 2.0


2. Recognise symptoms and signs of overfeeding

Couldnt find a huge amount of information here but the following are a
few ideas:
GI reflux is increased in overfeeding
Obesity
Lactose overload cramps, gas, crying, watery bowel motions


Toddler Diarrhoea

1. Understand the age range and clinical features

This condition is also called chronic non-specific diarrhoea and is the
commonest cause of persistent loose stools in preschool children.
Characteristically the stools are varying in consistency, sometimes well
formed and sometimes explosive and loose. The presence of undigested
vegetables in the stools is common and they are often more pale and
smelly than usual. Affected children are well and thriving and there are no
precipitating dietary factors.

Toddler diarrhoea probably results from an underlying maturational delay
in intestinal motility which leads to intestinal hurry. The loose stools are
not due to malabsorption. Most children have grown out of their
symptoms by 5 years of age but achieving faecal continence may be
significantly delayed.

Some relief of symptoms can be achieved by ensuring that the childs diet
contains adequate fat (which slows gut transit) and fibre. Excessive
consumption of fresh fruit juice, particularly those high in non-absorbable
sorbitol, can exacerbate symptoms. It is also important to maintain the
childs hydration during these episodes.


2. Offer reassurance from more serious forms of diarrhoea

Page | 147

Other more serious forms of diarrhoea include coeliac disease,
gastroenteritis, lactose intolerance, following bowel surgery and with
malabsorption.

All these conditions have symptoms associated with them and the child is
usually noticeably unwell or failing to thrive. With toddlers diarrhoea there
is intermittent bouts that seem to not be associated with anything in
particular (unlike the introduction of wheat in Coeliacs). Investigations
are not usually needed as this is extremely common.


Parasites

1. Be aware of these as a differential diagnosis especially with travels
abroad

Children are particularly vulnerable to picking up parasites due to poor
hygiene and frequently being on the floor. Worms are probably the most
common in children (threadworm enterobius vermicularis). These are
white and look like white thread. These worms do not usually cause
symptoms but can cause itching around the anus and vagina (in females).
This itching is particularly noticeable at night and can disturb sleep. It is
estimated that up to 40% of children under 10 have been infected by this
worm which lives in the intestine. To clear this infection it is necessary to
treat the whole household with good hygiene and medication
(mebendazole or piperazine).

Giardia lamblia is an important cause of persistent diarrhoea and
malabsorption. It occurs worldwide but is more common with poor
sanitation, reduced immunity and in endemic areas. The transmission is
faecal-orally and the main source of ingestion is contaminated water.
Symptoms include travellers diarrhoea lasting >10days and with
associated weight loss. There may be failure to thrive, nausea, abdominal
pain and anorexia. There are generally few signs besides malnutrition and
dehydration. The main investigation is stool microscopy.

Crytosporidium is a parasite that usually affects children and is
particularly common in children with AIDS. This causes diarrhoea through
the hosts response to the organism but primarily through malabsorption.
Contamination is from animals but particularly from live stock and petting
zoos. It can also be transferred from infected individuals such as at
nursery, or through food or water. It presents with a low grade fever,
general malaise and sudden onset watery diarrhoea. Symptoms on
average last two weeks but can go on for months. A relapse of symptoms
indicates a persistent infection.


Page | 148

Ulcers

1. Be aware of the causes and treatment

Duodenal ulcers can also occur in children as well as adults are commonly
caused by H.pylori infection. Certain medications can also contribute to
ulcers such as NSAIDS. Most of this detail has been previously mentioned
when discussing gastritis.


Viral Hepatitis

1. Be aware of the aetiology and presenting features

The clinical features of viral hepatitis include nausea, vomiting, abdominal
pain, lethargy and jaundice; however 30-50% of children do not develop
jaundice. A large tender liver is common and 30% will have
splenomegaly. The liver transaminases are usually markedly elevated.
Coagulation is usually normal.

Hepatitis A

This is an RNA virus that is spread by faecal-oral transmission. The
incidence in childhood has fallen as socioeconomic conditions have
improved. Many adults are not immune so vaccination may be needed for
travellers going to endemic areas.
The disease can be asymptomatic but the majority of children have a mild
illness and recover both clinically and biochemically within 2-4 weeks.
Some may develop prolonged cholestatic hepatitis or fulminant hepatitis.
Chronic liver disease does not occur. The diagnosis can be confirmed be
detecting IgM antibodies to the virus.
There is no treatment and no evidence that bed rest or a change of diet is
effective. Close contacts need prophylaxis with human normal
immunoglobulin (HNIG) or vaccination within 2 weeks of the onset of
illness.

Hepatitis B

This is a DNA virus which is an important cause of acute and chronic liver
disease worldwide, with high prevalence and carrier rates in the Far East,
Sub-Saharan Africa and parts of North and South America. HBV is
transmitted by perinatal transmission, transfusion of infected blood,
needlestick injury, renal dialysis and horizontal family spread. It can also
be transmitted sexually in adults.
Infants who contract HBV prenatally are asymptomatic but at least 90%
become chronic carriers. Older children who contract HBV may be
asymptomatic or have classical features of acute hepatitis. The majority
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will resolve spontaneously but 1-2% develop fulminant hepatic failure
whilst 5-10% become chronic carriers. The diagnosis is made by detecting
HBV antigens and antibodies. IgM antibodies to the core antigen (anti-
HBc) are positive in acute infection. Positivity to hepatitis B surface
antigen (HBsAg) denotes ongoing infectivity. There is no treatment.

Chronic hepatitis B of the infants infected by vertical transmission
approximately 30-50% will develop chronic HBV liver disease which may
progress to cirrhosis in 10%. There is also a long term risk of
hepatocellular carcinoma. Current treatment regimens have poor efficacy.
Prevention is most important and involves screening all pregnant women
antenatally for HBsAg. All babies of positive mothers should have a
hepatitis B vaccination with hepatitis B immunoglobulin also being given if
the mother is hepatitis B e antigen positive. Antibody response to the
vaccination should be checked in high risk infants and 5% will require a
further dose. Other members of the family should also be vaccinated.

Hepatitis C

This is an RNA virus that was responsible for 90% of post transfusion
hepatitis until the screening of donor blood in 1991. The prevalence is
high among IV drug users. Vertical transmission occurs in 6% of infected
mothers but is twice as common if there is co-infection with HIV and is
now the commonest cause of HCV transmission. It seldom causes an
acute infection but the majority become chronic carriers, with a 20-25%
lifetime risk of progression to cirrhosis or hepatocellular carcinoma.

Hepatitis D

Is a defective RNA virus that depends on hepatitis B virus for replication.
It occurs as a co-infection or as a superinfection causing an acute
exacerbation of chronic hepatitis. Cirrhosis develops in 50-70% of those
who develop it.

Hepatitis E

This is an RNA virus that is enterally transmitted, usually by contaminated
water. Epidemics occur in some developing countries.

Non-A to G Hepatitis

Clinical presentation is similar to hepatitis A. When a viral aetiology of
hepatitis is suspected but not identified it is known as non-A to G hepatitis

EBV

Page | 150

Children with EBV are usually asymptomatic. Some 40% have hepatitis
that may become fulminant. Less than 5% are jaundiced.

Acute Liver Failure

Symptoms: Jaundice, encephalopathy, coagulopathy, hypoglycaemia and
electrolyte disturbances, irritability, confusion, aggression.


Community Paediatrics and Psychiatry

Autism and Asperges

1. Outline the diagnostic criteria and assessment with awareness of key
professionals involved in management

Autism

Characteristic features that manifest within the first 3 years of life
include:
1) Impairment of social interaction poor eye contact, facial expressions,
failure to share and enjoy peer relationships
2) Impairment in communication poor spoken language, extreme
difficulty initiating and sustaining conversation, lack of imaginative play
3) Restricted, stereotyped interests and behaviours intense
preoccupation with interests such as dates, phone numbers, timetables
etc, inflexible adherence to routines and rituals, repetitive motor
movements such as clapping and an unusual interest in parts of hard or
moving objects.

Patients may also exhibit behavioural problems such as aggression,
impulsivity and self injurious behaviour. Although autistic children can be
of normal intelligence, 75% have significant mental retardation. Epilepsy
may develop in about 25-30% of cases.

Epidemiology and aetiology

Prevalence of autism is about 0.05% in the general population with a
male to female ratio of 3-5:1 but females are more seriously affected. The
exact cause has not been clarified but it is clear that genetic, prenatal,
perinatal and immunological factors are all implicated. Phenylketonuria,
tuberous sclerosis and congenital rubella are associated conditions. There
is no good evidence that the MMR vaccine results in autism.

Management and prognosis

Page | 151

Prognosis is generally poor with only 1-2% achieving full independence
and 20-30% of patients achieving partial independence. The best
prognostic factors are an IQ above 70 and good language development by
the age of 5-7. Prognosis is also improved if the home environment is
supportive with good family education and support. The treatment
approach is similar to mental retardation.

Aspergers Syndrome

This is similar to autism in that there is an impairment of social
interaction coupled with restricted, stereotyped interests and behaviours.
However the difference is that there are no abnormalities in language
acquisition and ability or in cognition development and intelligence. This
syndrome is more common in boys and schizoid and anakastic personality
traits are common. This disorder is on the autistic spectrum.


Delay in Motor Skills

1. Students will be able to list, describe and examine the gross and fine
motor developmental milestones of children and describe how vision
impairment may affect these domains

Development is divided into four main sections:
Gross motor
Fine motor and vision
Hearing, speech and language
Social, emotional and behavioural
The acquisition of developmental abilities for each skill field is remarkable
constant between children but may vary in rate. The normal pattern of
acquisition is sequential, longitudinal (one step leads to the next) and
varies in rate. Developmental milestones can be divided into the median
age of achieving it and the limit age after which it is abnormal. Premature
children will obviously need their age adjusting (up to 2 years of age)
before classing development as abnormal.

Gross motor development

Age Skill
Newborn Limbs flexed, symmetrical posture
Newborn Marked head lag on pulling up
6-8 weeks Raised head to 45 degrees in prone
6-8 months Sits without support
8-9 months Crawling
10 months Cruises around furniture
12 months Walks unsteadily, broad gait, hands apart
15 months Walks steadily
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Limit ages for gross motor are:
Head control 4 months
Sit unsupported 9 months
Standing independently 12 months
Walks independently 18 months

Fine motor and vision

Age Skill
6 weeks Follows moving object or face by turning head
4 months Reaches out for toy
4-6 months Palmar grasp
7 months Transfers toy from one hand to another
10 months Mature pincer grip
16-18 months Makes marks with a crayon
14 months 4
years
Building of shapes (various patterns correspond to
different ages)
2-5 years Coping shapes without seeing how it is done (line
2 years to triangle at 5 years)

Limit ages for fine motor and vision are:
Fixes and follows visually 3 months
Reaches for objects 6 months
Transfers 9 months
Pincer grip 12 months

In addition to all of these it is vital that the primitive reflexes disappear as
postural reflexes develop. This is essential for independent sitting and
walking.

Visual impairment will have an obvious affect on the development of
motor skills. Although gross motor may only be mildly affected, the
obvious deficit will be in the fine motor skills where hand-eye coordination
is required.

Abnormal motor development

This can be a delayed acquisition of motor skills or as a problem with
balance, an abnormal gait, asymmetry of hand use, involuntary
movements or rarely a loss of motor skill. Concerns about motor
development usually present between 3 months and 2 years of age when
acquisition of motor skills is occurring most rapidly. Causes of abnormal
motor development include a central motor deficit such as cerebral palsy
(discussed in its own section), a congenital myopathy or primary muscle
disease, spinal cord lesions and global developmental delay.

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2. Outline the neurological examination that will then guide a differential
diagnosis list

pGALS is the examination that would be used to assess motor skills in
children. It stands for paediatric gait, arms, legs and spine. It starts by
asking three screening questions:
Do you have an pain in your joints
Do you have an pain or trouble walking
Do you have an pain or problems dressing yourself
Once the screening questions have been asked the examination can
begin. Start by looking at the child (only wearing shorts for boys and
similar exposure for girls whilst preserving modesty) from the front, side
and back for any obvious wasting, deformity or other problems.

GAIT - Get the child to walk normally, on their heels and on their toes to
assess this.

ARMS Get the child to put their arms out and look at their hands (both
sides) for wasting or other deformities. Assess their pronation and
supination. Get them to screen their hands into a fist. Get them to touch
each finger to their thumb. Squeeze gently between their 2
nd
and 5
th

finger to check for pain. Get them to put their hands together and elbows
straight out. Do the same but with the back of the hands now touching.
Get the child to stretch their hands into the air and then put their head
back. Get the child to put their hands behind their head with elbows
pointing out. Get the child to put their head to either shoulder.

LEGS Get the child to lay down before assessing legs. Get the child to
bring each ankle, in turn, up to their bottom. Then pick up each leg and
check it form mobility. Check the knee for oedema and excess fluid using
two techniques (1 push down from above the knee to move fluid into
the knee, 2 push around the knee in a circle to check for fluid).

SPINE Get the child to stand and then reach for their toes.


Delay in Speech

1. Students will be able to list and describe communication problems

First it is best to describe what is normal. Speech is categorised into the
section with hearing and language.

Age Skill
Newborn Starts to loud noise
3-4 months Vocalises alone or when spoken to, coos and
laughs
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7 months Turns to soft sounds out of sight
7-10 months At 7 months uses sounds indiscriminately and
discriminately at 10 months
12 months Two or three words other than mama or dada
18 months 6-10 words, shows two parts of body
20-24 months Uses two or more words to make simple phrases
2 -3 years Talks constantly in 3-4 word sentences

Limit ages for speech are:
Polysyllabic babble 7 months
Consonant babble 10 months
Saying 6 words with meaning 18 months
Joins words 2 years
3-word sentences 2 years

A child may have a deficit in either receptive or expressive speech and
language, or both. The deficit may be a delay or a disorder. Speech and
language delay may be due to:
Hearing loss
Global developmental delay
Difficulty in speech production from an anatomical deficit (e.g. cleft
palate)
Environmental deprivation
Normal variant/familial pattern

Speech and language disorder may be due to:
Language comprehension
Language expression (inability to produce speech whilst knowing
what is needing to be said)
Phonation and speech production such as stammering, dysarthria or
verbal dyspraxia
Pragmatics (difference between sentence meaning and speakers
meaning), construction of sentences, semantics, grammar
Social/communication skills (autistic spectrum disorder)

Speech and language problems are usually first suspected by parents or
primary healthcare professionals. A hearing test and assessment by a
speech and language therapist are the initial steps. In early years there is
a considerable overlap between language and cognitive development.


Global Developmental Delay/Not Reaching Milestones

1. Be able to identify key delays in this domain when performing a
developmental assessment

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Global developmental delay implies a delay in acquisition of all skill fields
(gross motor, vision and fine motor, hearing and speech, and language
and cognition, social/emotional and behavioural). It usually becomes
apparent in the first 2 years of life. Global developmental delay is likely to
be associated with cognitive difficulties although these may only become
apparent several years later. When children become older and the clinical
picture is clearer, it is more appropriate to describe the individual
difficulties such as learning disability, motor disorder and communication
disorder.

For information of significant delays see above. Below is the remaining
section (social, emotional and behavioural development) that has not
been covered above.

Age Skill
6 weeks Smiles responsively
6-8 months Puts food in mouth
10-12 months Waves bye-bye, plays peek-a-boo
12 months Drinks from a cut with two hands
18 months Holds spoon and gets food to mouth
18-24 months Symbolic play
2 years Dry by day, pulls off some clothing
2 to 3 years Parallel play, takes turn, interactive play evolving

Limit ages for above area:
Smiles 8 weeks
Fear of strangers 10 months
Feeds self/spoon 18 months
Symbolic play 2 2 years
Interactive play 3 3 years


2. Create a differential diagnosis based on development history and
assessment




3. Plan the initial investigations of a child with developmental delay


NAI/Physical Abuse

1. Outline the history and examination involved in a child protection
assessment and list the categories of abuse

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Abuse and neglect can be categorised into physical abuse, emotional
abuse, sexual abuse, neglect and fabricated or induced illness (FII).

Physical abuse

Any form of intentional physical harm to the child. This will present as
fractures, bruises, burns and bites. This can often be difficult to
differentiate from a genuine condition or injury. Factors that indicate the
injury may have been intentional include the history given, the plausibility
of the explanation, any background of previous abuse, delay in reporting
the injury, inconsistent stories and an inappropriate reaction of the
parent(s) who is vague, evasive, unconcerned or excessively distressed or
aggressive.

Neglect

This is the persistent failure to meet a childs basic physical and/or
psychological needs, likely to result in the serious impairment of the
childs health or development. It may involve the failure to provide food,
clothing, shelter, protection, supervision or access to medical care. Think
about neglect when the child consistently misses medical appointments,
lacks glasses or immunisations, seems ravenously hungry, is dirty, is
wearing inadequate clothing, is abusing drugs/alcohol, says there is no-
one at home. Also consider neglect if the parent appears to be indifferent
to the child, seems apathetic or depressed, behaves irrationally or in a
bizarre manner and is abusing alcohol or drugs.

Emotional abuse

This is the persistent emotional mistreatment of a child resulting in severe
and persistent adverse effects on the childs emotional development. It
can involve conveying that the child is worthless or unloved. It can
features a predominantly developmentally unrealistic expectations being
imposed on the child. It may involve seeing or hearing the ill treatment of
another and may also involve serious bullying that causes the child to feel
frightened or in danger. This is the hardest type of abuse to identify. It is
important to consider is the child: the wrong gender, born at a time of
parental separation or violence, or seen as unduly difficult. There may
also be clues from the behaviour of the child depending on their age:
Babies apathetic, non-demanding, delayed development,
described by the mother as spoiled, attention seeking, in control or
not loving her.
Toddlers and preschool children violent, apathetic, fearful
School children wetting, soiling, relationship difficulties, non-
attendance, antisocial behaviour
Adolescents self-harm, depression, oppositional, aggressive and
delinquent behaviour,
Page | 157

Being bullied is increasing recognised as an important form of emotional
abuse and every school should have a policy in place to deal with it.

Sexual abuse

This involves forcing the child to take part in sexual acts, including
prostitution. The activity may involve physical contact, including
penetrative acts such as rape, buggery or oral sex, and/or non-contact
activities involving children looking at or producing pornographic material
or watching sexual activities or encouraging children to behave in a sexual
inappropriate way. The child or young person may tell someone about the
abuse, be identified in porn, be pregnancy (under 13 years is always
sexual abuse), have an STI, have vaginal bleeding, itching, or discharge,
have rectal bleeding. They may also have behavioural symptoms including
soiling, secondary enuresis, self harm, aggressive or sexualised
behaviours, regression and poor school performance. Signs are hard to
detect and the genital regions heal quickly, destroying forensic evidence.
Examination should be by a specially trained doctor.

Fabricated or induced illness

Discussed later but a quick summary is that it is the mother in >80% of
cases. It can consist of verbal fabrication or the induction of illness
(suffocation, poisoning, excessive substances i.e. salt, excess medication
and the use of medically provided ports of entry i.e. stoma). Organic
illness can coexist with fabrication which makes things even more
difficult. Clues include frequent presentations that only occur in the
carers presence and are not substantiated by clinical findings.


2. Awareness of key professionals involved in its management

Police, doctors, specialist paediatric doctor in each hospital that has
responsibility for this, social workers, nurses and teachers are all
responsible.


ADHD

1. Outline the diagnostic criteria for ADHD and its management

Diagnosis and clinical features: usually has its onset before the age of 6-7
and is characterised by impaired attention or hyperactivity or impulsivity.
Impaired attention includes difficulty sustaining attention in work or
play, not listening when being spoken to and being highly
distractible.
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Hyperactivity includes restlessness, fidgeting, running and jumping
around in inappropriate situations, excess noisiness and difficulty
engaging in quiet activities. They also often interrupt others, cannot
wait their turn and may prematurely blurt out answers to questions.

It is important that these symptoms are evident in more than one
situation i.e. at school and at home, and should be present for at least 6
months. It is also important to distinguish ADHD from age appropriate
behaviour in young active children. Other aspects should be considered to
explain the behaviour such as is the child in a class above or below their
level of intellect and are there concurrent mental illnesses such as
depression.

Epidemiology and aetiology

The prevalence in the USA is 3-7% in school aged children compared to
only 1% in the UK, perhaps due to narrower diagnostic criteria. The male
to female ration is 3-9:1 and causes are not yet known, although genetic,
dietary and psychosocial factors as well as brain damage have all been
implicated.

Management and prognosis

Pharmacological: CNS stimulants such as methylphenidate (Ritalin)
and dexamphetamine have been shown to be highly effective in
of children, producing increased concentration and academic
efficiency. Antidepressants and some antipsychotics are second line.
Psychotherapy: behavioural modification and family education are
important. Permissive parents are not helpful in this situation.

Improvements usually occur with development and remission of
symptoms usually occuring between the ages of 12 and 20, although 15%
of patients have symptoms persisting into adulthood.
Unstable family dynamics and coexisting conduct disorder are associated
with a worse prognosis.


2. Awareness of key professionals involved and the management

Psychiatrist, teachers, parents, doctors, nurses and pharmacists.


Anorexia and Eating Disorders

1. Outline the diagnostic criteria for anorexia and eating disorders and its
management

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Anorexia nervosa and bulimia nervosa

The psychopathology in these two conditions takes the form of an
overvalued idea and is characterised by a dread of fatness resulting in
patients imposing a low target weight. This can be achieved through poor
calorific intake, self-induced vomiting, excessive exercise or the use of
drugs.

Anorexia: body weight maintained at least 15% below normal or a BMI
below 17.5kg/m
2
. There is also evidence of generalised endocrine
disturbances i.e. amenorrhoea in post-menarchal women, loss of sexual
interest, raised GH and cortisol, reduced T3. Pubertal events may be
delayed or arrested in certain age groups.

Bulimia: patients usually have a normal body weight. The characteristic
feature is a preoccupation with eating and an irresistible craving for food
that results in binge eating. This is associated with a feeling of lack of
control and inevitably feelings of shame and disgust. To counteract this
patients engage in purging (vomiting, laxatives and diuretic use), fasting
or excessive exercise. Russells sign (calluses on the back of hands when
the hand has been used to induce vomiting).

ICD-10 criteria for anorexia and bulimia nervosa
Anorexia: all of the following
Low body weight (BMI<17.5)
Self-induced weight loss
Overvalued idea
Endocrine disturbances (failure to make expected development if
prepubertal)

Bulimia: all of the following
Binge eating
Methods to counteract weight gain
Overvalued idea

Other symptoms and complications

Patients often complain of a low mood and anxiety. This may be
surrounding eating but can often be generalised. If these symptoms are
severe enough then they can be said to be co-morbid to the eating
disorder.

Complications: There are many, many complications related to starvation
and vomiting. Perhaps the one worth remembering is hypokalaemia with
repeated vomiting which can be life threatening. This should be treated
gradually and the patient should be encouraged to eat potassium rich
foods i.e. bananas.
Page | 160


Differentials

Almost any medical condition may lead to weight loss so this should be
considered before considering anorexia or bulimia. Other important
conditions are depression, OCD, psychotic disorders, dementia and
alcohol or substance abuse.

Epidemiology and aetiology

Both conditions have a female to male ratio of 10:1. Bulimia (3-5%)
tends to be more common than anorexia (1%) with an incidence of 12.2
per 100,000 compared with 4.2 per 100,000. Anorexia tends to onset in
mid to late adolescence and bulimia onsets slightly later at late
adolescence to early adulthood. Social economic class is no longer
thought to play a large role.

No cause for either anorexia or bulimia has been identified also both
biological and psychosocial factors have been implicated.

Genetics: Twin studies have shown higher incidences in monozygotic
twins. First degree relatives also have a higher incidence of eating
disorders as well as mood disorders. Neurotransmitter levels are also
thought to play a part as serotonin is thought to suppress food
consumption and some anorectics have been shown to have increased
concentrations.

Environment: Western culture undoubtedly plays a big part in both
conditions. With anorexia it is also thought that families, who are
overprotective, over involved, avoid conflict and are resistant to change,
may be at risk. Other theories suggest that sexual maturity presents a
conflict to anorectics so they avoid menstruation to stop a change in body
shape. With bulimia it is clear that a past history of dieting increasing the
risk of developing bulimia eight fold. Perfectionism, low self-esteem,
alcohol abuse, substance abuse, personality disorders and depression are
all associated conditions.

Management

Anorexia: These patients are the hardest to treat due to their
ambivalence towards treatment coupled with the consequences of
starvation (poor concentration, lethargy, depression).
The first option is to educate patients about nutrition and
monitoring of weight (most useful in those who only diet
excessively). Their weight can be regularly monitored and self help
groups may be useful.
Page | 161

The preferred treatment is some form of brief outpatient
psychotherapy with the encouragement of family involvement.
Some of these options are: psychoeducation about nutrition and
weight (advice, education motivation), nutritional management and
weight restoration (negotiate target weight, eating plans, teaching
shopping and cooking skills), CBT (20-24 session exploring issues of
self control, low self-esteem and perfectionism, IPT (improving
social functioning and interpersonal skills), family therapy (affective
if living with family and onset before 18) and psychodynamic
psychotherapy (reserved for specialists in eating disorders).
There should be a low threshold for referral to a specialised eating
disorder unit, especially with patients who are resistant to out-
patient treatment and who have severe anorexia or poor prognostic
factors (long duration of illness, late age of onset, very low weight,
associated bulimic symptoms, personality difficulties, poor family
relationship, poor social adjustment).
Hospitalisation may be considered with very low weights
(BMI<13.5), rapid weight loss, electrolyte abnormalities
(particularly sodium and potassium), and syncope. Occasionally it
may be necessary to treat patients against their will and includes
nasogastric or IV feeding.
The use of medication is limited and special care should be taken in
patients with a very low weight. SSRIs may be useful for treating
co-morbid depression and OCD. Fluoxetine may be helpful in
maintaining weight gain and preventing relapse.

Bulimia: patients with bulimia tend to be more motivated to improve and
are usually a healthy weight. Treatment is mostly psychological and
ranges from psychoeducation, self help groups and manuals in mild cases,
to CBT and IPL in more serious cases. TCAs and SSRIs (fluoxetine 60mg)
have been shown to reduce bingeing and purging behaviours but
psychotherapy remains the treatment of choice. Co-morbid substance
abuse and depression are common so should be managed.

Prognosis

Anorexia: up to 50% of patients recover and return to a normal weight,
eating and menstruating. 25% of patients go on to develop normal weight
bulimia. A third of all patients fail to recover and the mortality is over
10% (the highest of all psychiatric disorders). Half of these deaths are
due to complications of starvation and a third are due to suicide.

Bulimia: the course is also variable but generally better than anorexia
with 50-70% if patients making a recovery after 2-5 years. There is no
increase in mortality. Poor prognostic factors include severe bingeing and
purging behaviours, low weight and co-morbid depression.

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Enuresis

1. Describe the history, examination and management of enuresis

Enuresis can be either daytime or nocturnal.

Daytime enuresis

This is due to a lack of bladder control in the day in a child old enough to
be continent (over the age of 3-5). It may be caused by a lack of
attention to bladder sensation, with detrusor instability, bladder neck
weakness, a neuropathic bladder (associated with spinal bifida and is
where bladder is enlarged and fails to properly empty), a UTI,
constipation or an ectopic ureter (constant dribbling). Examination may
reveal a neuropathic bladder (distension) and there may be abnormal
perineal sensation and anal tone or abnormal leg reflexes and gait.
Sensory loss in the distribution S2, 3 and 4 should also be sought. Urine
should be examined by microscopy and cultured. An ultrasound may be
useful in showing incomplete emptying whilst urodynamic studies may
help demonstrate a thickened bladder neck (primarily with ultrasound).
Affected children in whom a neurological cause has been excluded may
benefit from star charts, bladder training and pelvic floor exercises.
Constipation should be treated and anticholinergic drugs may be helpful.

Secondary enuresis

This is the loss of previously achieved urinary continence and may be due
to emotional upset, a UTI and polyuria. Investigations should include
testing the urine for infection, glucose and protein, assessment of urinary
concentrating ability and ultrasound of the renal tract.

Nocturnal enuresis

I assume this is what the objective actually means. This is quite a
common problem with about 6% of 5 year olds and 3% of 10 year olds
not being dry at night. Boys outnumber girls 2 to 1. There is a genetically
determined delay in acquiring sphincter competence with two thirds of
children with enuresis having an affected first degree relative. There may
also be interference in learning to become dry at night. Young children
need reasonable freedom from stress and a measure of parental approval
in order to learn night time continence. Emotional stress can interfere
with this process and cause secondary enuresis. Organic causes here are
uncommon but include UTI, faecal retention enough to cause bladder
neck dysfunction, and polyuria due to diabetes or renal concentrating
disorders. A urine sample should always be tested for glucose, protein
and infection.
Page | 163


The management for nocturnal enuresis is straight forward but
painstaking to succeed. After the age of 4, enuresis resolves
spontaneously in only 5% of children. In practice treatment is rarely
undertaken before 6 years of age. The first step is to explain to both the
child and parent that the problem is common and beyond conscious
control. The parents should stop punishing the child. Star charts can help
by encouraging the child for not wetting the bed. Alternatively an enuresis
alarm may be used to wake the child and prompt them to empty their
bladder. Desmopressin can provide short-term relief for holidays or
sleepovers as it is an analogue of antidiuretic hormone. Self help groups
are also available to provide support.


Learning Difficulties

1. Awareness of key professionals involved in its management

Most healthcare professions, parents and teachers are involved.


2. List the common causes of learning difficulties either in isolation or as
part of global delay

Learning difficulties can be classified as mild (IQ 70-80), moderate (IQ
50-70), severe (IQ 35-50) and profound (IQ <35). Severe and profound
learning difficulties are usually apparent from infancy as marked
developmental delay whereas moderate learning difficulties emerge only
as a delay in speech and language. Mild learning difficulties may only
become apparent when the child starts school or even later.

Most children have an organic cause and these include:

Prenatal
Genetic Downs, fragile X, microcephaly, hydrocephalus
Vascular occlusions, haemorrhage
Metabolic hypothyroidism, Phenylketonuria
Teratogenic alcohol and drug abuse
Congenital infection rubella, cytomegalovirus, HIV, toxoplasmosis
Neurocutaneous syndromes tuberous sclerosis, neurofibromatosis

Perinatal
Extreme prematurity
Birth asphyxia
Metabolic symptomatic hypoglycaemia, hyperbilirubinaemia

Postnatal
Page | 164

Infection meningitis, encephalitis
Anoxia near drowning, suffocation, seizures
Trauma head injury
Metabolic hypoglycaemia, inborn errors or metabolism
Vascular stroke


Neglect and Psychosocial Deprivation

1. Be aware of these as forms of child abuse and the impact they can
have on the child

Discussed above

Psychosocial deprivation can lead to a shortened height, underweight and
a delay in puberty. Children can catch up if placed in a nurturing
environment.


2. Awareness of key professionals involved in the care of such children

Discussed above


Psychological Problems of Chronic Illness

1. Be aware of the impact of chronic disease on growth, development and
psychological well being

Chronic illness is a relatively common cause of abnormal growth. These
children are usually short and underweight. Inadequate nutrition may be
due to insufficient food, restricted diet or poor appetite associated with
chronic illness, or from increased nutritional requirement for a raised
metabolic rate. Chronic illnesses which may present with short stature
include Coeliac disease, Crohns disease and chronic renal failure.

Psychologically the cognitive response can lie anywhere along the
spectrum of over-acceptance to denial, with fluctuation over time. In over
acceptance the child may allow the illness to overtake their life resulting
in more impairment than is expected for level of symptoms, and high
levels of anxiety about the slightest symptoms. With denial symptoms
and warning signs may be ignored and treatment poorly adhered to. The
emotional response to diagnosis and at times of relapse, may have
similarities to a bereavement reaction or reaction to loss, with shock,
denial, anger followed by acceptance and adjustment. The behavioural
response in young children tends to be a regression when stressed and
behaviour younger than they actually are. A toddler may become
Page | 165

overactive or clingy and display sleep and feeding difficulties. Finally the
somatic response can include expression of worry and distress through
bodily symptoms such as recurrent abdominal pain.

Children suffering from chronic illness are more susceptible to mental
health problems but this is related to the nature of the illness, the stage,
the age of the child, the temperament, intellectual capacity and family
factors.


2. Have an awareness of the impact in adolescence on compliance

Adherence in adolescents with a chronic disease is generally poor and
leads to greater complications and admissions.


School Refusal

1. Outline the characteristics for school refusal and its management

School refusal is an inability to attend school on account of overwhelming
anxiety. Such children may not complain of anxiety but of its physical
concomitants or the consequences of hyperventilation. Anxiety may
present as complaints of nausea, headache or otherwise not being well,
which are confined to weekday, term-time mornings, clearing up by
midday. It may be rational, as when the child is being bullied or there is
educational underachievement. If it is disproportionate to stresses at
school it is termed school refusal, an anxiety problem with two common
causes. The first is separation anxiety from parents persisting beyond the
toddler years and the second is anxiety provoked by some aspect of
school. These two can coexist.

School refusal based on separation anxiety is typical of children under the
age of 11 and can be provoked by an adverse life event such as illness,
family death or moving house. Treatment is aimed at gently promoting
increasing separations from the parents whilst arranging an early school
return. Some adolescents with school refusal have a depressive disorder
but more usually there is an interaction between an anxiety disorder and
long-standing personality issues such as intolerance of uncertainty.

Management is the following:
Advice and support parents and school about the condition
Treat any underlying emotional disorder
Plan and facilitate an early and graded return to school
Help the parents make it more rewarding for the child to go to
school than stay at home
Address bullying or educational difficulties if present
Page | 166



2. Awareness of key professionals involved in its management

Doctor, psychologist, teachers, parents etc


Tantrums, Behaviour Difficulties and Conduct Disorder

1. Outline the key aspects of history and management of tantrums,
behavioural difficulties and conduct disorder

Tantrums

Normal toddlers often go through a phase of refusing to comply with
parents demands, sometimes angrily. All this can demoralise and exhaust
parents. These are an ordinary response to frustration, especially not
being allowed to have or do something. They are common and normal in
young preschool children. To analyse a tantrum use the ABC approach
(Antecedents what happens in the minutes before, Behaviour what did
the episode consist of, and Consequences what happened as a result).
Next check for potential medical causes such as a global language delay,
hearing impairment and medication such as bronchodilators and
anticonvulsants.

The easiest course of action is to distract the child but if this cannot be
done then let the tantrum burn itself out by leaving the room and
returning a few minutes later. This should be done calmly without the
threat of abandonment. The parent should not give in. An alternative
method is using a time out by placing the child in an area where no-one
will speak to them (1 minute per year of life). Disobedience can be dealt
with by using a star chart and acknowledgement of good behaviour.

General steps:
Ensure your demands are reasonable
Tell the child what you want them to do rather than what you dont
Praise for compliance
Use positive instructions (if you do this then this will happen)
Avoid threats
Ignore minor episodes
Give affection and attention before the tantrum
Distraction
Avoid antecedents
Ignoring
Time out
Hold child firmly if they are being dangerous
Star charts
Page | 167


Difficult behaviour

This covers a range of problems including aggressive behaviour and
antisocial behaviour. Generally the same rules that apply to tantrums
should apply here too.

Conduct Disorder

This occurs usually before the age of 18. It mostly affects boys by the age
of 10-12 and girls by 14-16. This disorder is characterised by the
repetitive and persistent pattern of aggression to people and animals,
destruction of property, deceitfulness or theft and major violations of age
appropriate societal expectation or rules e.g. truancy.
Aetiological factors include genetics, parental psychopathology, abuse,
neglect, education and socioeconomic status. It affects 5-15% of
adolescent boys and 2-10% of girls with a female to male ratio of 3-12:1
(I know the numbers dont make sense but thats what the psychiatry
book says). Many improve whilst some go on to develop an antisocial
personality disorder and substance related problems.
Management strategies include behavioural, cognitive, family and group
therapies. Opposition defiant disorder describes a pattern of defiant and
hostile behaviour that does not violate the law or basic rights of others.


2. Awareness of key professionals involved in its management

Psychiatrist, teachers, police, parents etc


Chronic Fatigue Syndrome

1. Describe the diagnostic criteria and differential diagnosis for CFS/ME

This condition refers to persisting high levels of subjective fatigue, leading
to rapid exhaustion on minimal physical or mental exertion. The term is
broader and more neutral than the specific pathology or aetiology implied
by myalgic encephalopathy or post-viral fatigue syndrome, which follows
an apparently viral febrile illness. There is sometimes serological evidence
of recent infection with coxsackie B virus or EBV or a hepatitis virus.
Some cases have no history of evidence of a precipitating infection and
there are no specific diagnostic tests. The clinical picture is somewhat
diffuse and there are no pathognomonic symptoms. Myalgia, migratory
arthralgia, headache difficulty getting off to sleep, poor concentration and
irritability are virtually universal. Stomach pains, scalp tenderness, eye
pain and photophobia and tender cervical lymphadenopathy are
frequently encountered. Depressive symptoms are just as much of the
Page | 168

picture and there is continuing debate as to how much of the picture is
physical and how much is psychological. The majority of cases will remit
with time but this can take months or even years.


2. Outline the management strategies

Recommended treatment involved graded exercise therapy and/or
cognitive behavioural therapy. Graded exercise therapy is usually
provided by physiotherapists and aims to achieve gradual increase in
exercise tolerance. However if too much pressure is put on the child then
this can lead to tantrums or mute withdrawal. It is important to maintain
as much of a normal life as possible including school attendance. The
mood of depressed children can respond to antidepressant medication but
this is unlikely to alleviate the fatigability.


Dyspraxia

1. Describe the diagnostic criteria

This is also called developmental coordination disorder and is a disorder of
motor planning and/or execution with no significant findings on standard
neurological examination. It is a disorder of the higher cortical processes
and there may be associated problems of perception (how the child
interprets what he sees and hears), use of language and putting thoughts
together.
These difficulties can impact on educational progress and self-esteem and
suggest the child has greater academic difficulties than may actually be
the case. Features include problems with:
Handwriting awkward, messy, slow, irregular and poorly spaced
Dressing (buttons, laces, clothes)
Cutting up food
Poorly established laterality
Copying and drawing
Messy eating difficulty in coordinating biting, chewing and
swallowing.

Assessment and advice is primarily from an occupational therapist or,
when necessary, a speech and language therapist. Dyspraxia in its
mildest form often goes undetected during the first years of life as the
child achieves gross motor milestones at the normal times. With therapy
and maturity the condition should improve.


Depression

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1. Recognise the features of depression and the at risk groups in children

Depression is heavily covered in the psychiatry guide but it is a clinical
condition that is more than just sadness. It extends to motivation,
judgement, the ability to experience pleasure and provokes emotions of
guilt and despair. It may disturb sleep, appetite and weight. It leads to
social withdrawal an important sign. It can occasionally affect prepubertal
children. It is generally comparable to depression in adults but there are
differences:
More common than adults apathy, boredom, separation anxiety,
decline in school performance, social withdrawal, hypochondriacal
ideas, irritable mood, antisocial behaviour
Less common than adults loss of appetite and weight, loss of
sleep, libido, slowing of thought and movement, delusional ideas
A diagnosis of depression depends critically on interviewing the child on
their own. Treatment depends upon severity. With mild depression it can
be managed in primary care and many will recover spontaneously, hence
a period of watchful waiting for 4 weeks may be appropriate. Alternatively
non-directive support therapy can be offered or guided self-help. If mild
depression does not respond to these in 2-3 months then the child should
be referred to a specialist. All children with moderate or severe
depression should be referred. In a specialist setting they may offer CBT,
IPT, and family therapy. If psychotherapy is insufficient after 6 weeks
then an SSRI (fluoxetine) should be considered. If suicidal then admission
may be needed.


Fabricated Illness

1. Have an awareness of this in paediatric medicine and the differential
diagnosis

Discussed with the types of neglect above


Psychosis

1. Define psychosis and key questions that help discriminate it when
obtaining a history

Again psychosis is covered in much greater detail in the psychiatry guide.

Psychosis is a breakdown in the perception and understanding of reality
and a lack of awareness that the person is unwell. This can affect ideas
and beliefs, resulting in a delusional thinking where abnormal beliefs are
help with an unshakable quality and lead to odd behaviour. The
connectedness and coherence of thoughts may break down so that
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speech is hard to follow, leading to thought disorder. Perceptual
abnormalities lead to hallucinations, where a perception is experienced in
the absence of a stimulus. The psychotic disorders include:
Schizophrenia no specific medical cause is found and there is
generally no major disturbance of mood other than flattening of
affect
Bipolar affective disorder where psychosis is associated with
lowered mood as in depression or elevated as in mania
Organic psychosis occurs in delirium, substance induced disorders
and dementia.

Both schizophrenia and bipolar are rare before puberty but increase in
frequency during adolescence. Investigations should include a urine dip
drug screen, exclusion of medications-induced psychosis, exclusion of
medical causes and dementia. When psychosis is suspected there should
be urgent referral to the psychiatrist for a comprehensive assessment and
treatment with antipsychotics, psycho-education, family therapy and
individual therapy. If an organic cause then this needs treating promptly.


Self Harm and Drug Abuse

1. Describe the methods of self harm in adolescence and outline
strategies in eliciting an accurate history which incorporates their
emotional health

Covered in the psychiatry guide but the paediatric guide recommends
using the PATHOS tool.
P Have you had problems for longer than a month?
A Were you alone in the house at the time?
T Did you plan the overdose for longer than three hours?
HO Are you feeling hopeless about the future?
S Were you feeling sad for most of the time before the overdose?

Score 1 for yes and 0 for no. Child is a high risk of >2.


2. Awareness of the categories of recreational illicit drugs

Class A ecstasy, LSD, heroin, morphine, cocaine and methadone
Class B amphetamine, cannabis and dihydrocodeine
Class C GHB, temazepam, valium, temgesic, ketamine


Sexual Abuse

1. Be aware of the presenting features and risk factors
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Discussed in the neglect section above


Sleep Disorders

1. Outline the different types of psychological sleep disorder in childhood
and briefly describe their management

Difficulty in settling to sleep at bedtime

This is a common problem in the toddler years. The child will not go to
sleep unless the parent is present. Most instances are normal expressions
of separation anxiety, but there may be other obvious reasons for it which
can be explored in taking a history. These include:
Too much sleep in the afternoon
Displaced sleep wake cycle (sleeping in late due to disturbed sleep)
Separation anxiety
Overstimulation in the evening
Kept awake by sibling, noisy neighbours of TV
Erratic parental practices (no bedtime routine, sudden removal from
play to bed)
Use of bedroom as punishment
Dislike of darkness and silence
Some chronic physical conditions
Many cases will respond to simple advice including creating a bedtime
routine which cues the child to what is required and telling the child to lie
quietly in bed until he/she falls asleep. If this does not work then a more
active intervention is needed. This involves the parents imposing a graded
pattern of lengthening periods between tucking their child up in bed and
coming back after a few minutes to visit, but leaving the room before the
child falls asleep, even if they are protesting. The object is to provide the
opportunity for the child to learn how to fall asleep alone, a skill not yet
developed.

Waking at night

This is normal but some children cry because they cannot settle
themselves bad to sleep without their parents presence. This is often
associated with difficulty settling in the evening which should be
addressed first. The graded approach described above can also be used in
the middle of the night but parents may find it helpful to take alternative
nights so to share the burden.

Nightmares

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These are bad dreams which can be recalled by the child. They rarely
require medical attention unless frequent or stereotyped in content
indicating a morbid preoccupation or symptoms of a psychiatric disorder
such as PTSD.

Night (sleep) terrors

These are different from nightmares and occur about 1.5 hours after
settling. The parent finds the child sitting up in bed with eyes open,
seemingly awake but obviously disorientated, confused and distressed
and unresponsive to their questions and reassurances. The child then
settles to sleep after a few minutes and has no recollection the next
morning. Sleepwalking has similar origins to this condition and parents
need simple reassurance. The most important intervention is to make the
environment safe if they are sleep-walking. A common cause is an erratic
sleep schedule so a sleep routine may be helpful in preventing recurrence


Stammer and Speech Impediment

1. Discriminate between a stammer and speech impediment

Stammer/stutter

A stammer or stutter is a speech disorder in which the flow of speech is
disrupted by involuntary repetitions and prolongations of sounds (mostly
vowels), syllables, words or phrases and involuntary silent pauses or
blocks in which the stutterer is unable to produce sound. For many
stutterers repetition is the primary problem and blocks and prolongations
are learned mechanisms to mask repetition as the fear of repetitive
speaking in public is often the main cause of psychological unease. Many
young children go through this stage between the ages of 2 and 5. In
many cases the stutter will go by the age of 5 but it can last longer.

There are a variety of factors that are thought to contribute towards this
condition:
Genetics: about 60% of those who stutter have a close family
member who stutters
Other speech and language problems or developmental delays
Differences in the brains processing of language
Interruption and competition with siblings

Speech impediment

A speech impediment is a type of communication disorder where normal
speech is disrupted. This can mean stuttering, lisps or being completely
unable to speak. These conditions can be classified as:
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Stuttering
Lisping protruding the tongue between the front teeth while
producing s and z sounds.
Muteness
Articulation disorders
Voice disorders
Dysarthria
This can be caused for a number of reasons including congenital health
conditions such as poor hearing and a cleft palate. Other causes are birth
defects that affect the muscles and bones of the face, as well as the
digestive system and larynx. Many of these can be remedied by
appropriate speech and language therapy.


Surgery

Acute Abdomen

1. Know the common causes in different age groups

The differential diagnosis of acute abdominal pain in children is extremely
wide, encompassing non-specific abdominal pain, surgical causes, and
medical conditions. In nearly half of the children admitted the pain will
resolve undiagnosed. In young children it is essential not to delay the
diagnosis and treatment of acute appendicitis, as progression to
perforation can be rapid. It is easy to belittle the clinical signs of
abdominal tenderness in young children. Of the surgical causes,
appendicitis is by far the most common.

Causes of acute abdominal pain can be intra-abdominal (surgical and
medical) and extra-abdominal.
Surgical causes include:
Acute appendicitis second decade of life
Intestinal obstruction + intussusception 3 months to 2 years
Inguinal hernia
Peritonitis
Inflamed Meckels diverticulum 2-8 years
Trauma
Pancreatitis
Medical causes include:
Gastroenteritis usually under 5 years
UTI, pyelonephritis, renal calculus
HSP
DKA
Hepatitis
IBD
Constipation any age
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Gynaecological problems
Extra-abdominal causes:
URTI
Lower lobe pneumonia
Torsion of the testis
Hip and spine


2. Perform a clinical examination and plan initial investigations

The abdomen must be palpated and the testes, hernia orifices and hip
joints must always be checked. It is noteworthy that lower lobe
pneumonia may cause pain referred to the abdomen, primary peritonitis
is seen in patients with ascities from nephrotic symptoms or liver disease,
DKA may cause severe abdominal pain and a UTI (including
pyelonephritis) is a relatively uncommon cause of acute abdominal pain.

Inspection: anaemia, jaundice, distension, bruising around umbilicus or
flanks, dehydration

Auscultation: bowel sounds, bruits

Percussion: ascites, bowel gas, tenderness, shifting dullness, fluid thrill,
size of mass

Palpation: masses, tenderness, guarding, organomegaly, rebound
tenderness, hernia, scrotum, lymph nodes

Others: PR, pelvis, lower pulses, other systems

Investigations will vary depending on what is suspected. However the
initial investigations will include:
Urine dip
Pregnancy test (maybe)
Bloods U&Es, FBC, LFTs, glucose, calcium
Group and save
Urinalysis
ECG
O
2
saturation
Radiology


3. Outline the principles of resuscitation in patients with shock

Regardless of the cause the primary assessment should be ABC. The
patients airway should be open or secured and high flow oxygen at 100%
should be used. If in respiratory distress consider intubation and
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mechanical ventilation. The patient will need appropriate non-invasive
monitoring and blood glucose should be taken at the bedside.

Consider the volumes lost from the vascular compartment and
cardiovascular signs after a 25% loss (2% of body weight). If in shock
then give 20ml/kg isotonic fluid over 5 minutes and reassess. The fluid
may be pushed through if needed. If 2-3 volumes are given then the child
is at risk of bleeding and packed cells should be given.

Dextrose administration is often necessary since children have relatively
low glycogen stores which become rapidly depleted during shock. If the
bedside glucose check is low then give 0.5-1g/kg IV dextrose, ideally as a
continuous infusion.

Drugs such as vasopressors and cardiac inotropic agents may also be
needed. If sepsis is a concern then give broad spectrum antibiotic cover.


Appendicitis

1. Describe the clinical features and differential diagnosis

Acute appendicitis is the commonest cause of abdominal pain in childhood
requiring surgical intervention. Although it may occur at any age, it is
very uncommon in children under 3 years old and is most common in the
second decade of life. The clinical features are:
Symptoms
Anorexia
Vomiting (usually only a few times) or diarrhoea (not significant
amounts)
Abdominal pain initially central and colicky but then localising to
the RIF
Signs
Flushed face with oral fetor
Low-grade fever 37.2-38 degrees
Abdominal pain aggravated by movement e.g. on walking,
coughing, jumping or bumps on the road in a car journey
Persistent tenderness with guarding in the RIF (McBurneys point)
Rebound tenderness
Obturator sign internal rotation of a flexed right thigh will give
pain if there is an inflammatory mass overlying the obturator space
(pelvic appendicitis)

In preschool children the diagnosis is particularly difficult. Faecoliths are
more common and can be seen on an abdominal x-ray. Perforation can be
rapid in this age group as the omentum is less well developed and fails to
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surround the appendix. Finally the signs are easy to underestimate at this
age.

Acute onset of pain is not typical of acute appendicitis but is seen with
acute ischaemic conditions such as volvulus or intussusception. An ill
appearing quiet child who is lying very still in bed, perhaps with the legs
flexed, is much more of a concern than an active, happy child.

The list of differentials is huge and includes ovarian cysts, PID,
pregnancy, mesenteric adenitis and Volvulus. However the key conditions
that need to be excluded are:
Gastroenteritis discussed below but there should not be confusion
here
Constipation
PID
Volvulus
Hirschprungs disease
Intussusception


2. Be aware of the common pitfalls: atypical presentation diarrhoea,
tender RIF, tender RIF, abnormal urine dipstick possible incorrect
diagnosis of UTI

The common pitfalls described here are gastroenteritis and kidney
pathology. Gastroenteritis should not be confused with appendicitis. With
gastroenteritis the patient should have nausea, vomiting and diarrhoea.
Also the vomiting will most likely precede the pain in gastroenteritis but
not in appendicitis.

The second pitfall is diagnosing a UTI. A neutrophilia is not always present
on a full blood count but white blood cells or organisms in the urine are
not uncommon. This is because the inflamed appendix may be adjacent to
the ureter or bladder. Here an ultrasound will help differentiate the two
problems.

Also worth mentioning is a retrocaecal appendix (15%) in which localised
guarding may be absent and instead will localise to the psoas muscle. In
other patients the tip of the appendix is deep to the pelvis and the signs
and symptoms localise to the rectum or bladder (suprapubic).


3. Understand some of the late presentation cases, appendicular mass
and their management

The two main late presenting cases are an appendicular mass and an
appendicular abscess.
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An appendicular mass is a complication of appendicitis and is where the
omentum and small bowel adhere to the appendix. This usually presents
with a fever and a palpable mass. Initial treatment is usually conservative
with fluids, analgesia and antibiotics but urgent surgical intervention may
be required if the mass enlarges or the patients condition deteriorates.
Recovery following conservative treatment is usually by appendectomy.

An appendicular abscess can be shown by ultrasound or CT scan and the
initial treatment is by percutaneous or open drainage but open drainage
also enables appendectomy. A worsening CRP with a good history is a
sure signal of rupture and abscess formation.


Inguinal Hernia

1. Describe the clinical features and differences from hydrocele

Inguinal hernias are almost exclusively seen in boys. Normally the
inguinoscrotal descent of the testis is preceded by some peritoneum. This
peritoneal extension (processus vaginalis) normally obliterates after birth
but the failure of this process may lead to the development of an inguinal
hernia or hydrocele.

The inguinal hernia in children is almost always indirect and is due to this
patent processus vaginalis. There are much more frequent in boys and
are particularly common in premature infants. Hernias are more common
on the right side and at least 1 in 50 boys will develop one. They usually
present as an intermittent swelling in the groin or scrotum on crying or
straining. Unless observed the diagnosis relies on a history and the
palpation of a thickened spermatic cord (or round ligament in girls). The
groin swelling may become visible on raising the childs intra-abdominal
pressure.

The hernia may also present as an irreducible lump in the groin or
scrotum. The lump will be firm and tender and the infant may be unwell
with irritability and vomiting. Most irreducible hernias can be reduced
after opioid analgesia and sustained gentle compression. If reduction is
impossible then there becomes the risk of strangulation of bowel and
damage to the testis. A hernia associated with an undescended testis
should be operated on early to minimise risks to the testis.

A hydrocele will be described later but is the same principle as a hernia
but the tract is much smaller and only allows peritoneal fluid to
accumulate.

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Inguinal hernias can also present in girls with the ovaries being
incarcerated in the hernia sac. Rarely androgen insensitivity syndrome
can present as a hernia in a phenotypic female who actually have a male
genotype.


2. Be aware of the risk of incarceration and consequences i.e. bowel and
testicular compromise, especially in infant

The answer is really explained in the objective title. If the hernia becomes
incarcerated then this can compromise the blood supply to the bowel that
is enveloped as well as the blood supply to the structures below (the
testis). Infants are especially at risk of this.

The operation is carried out via an inguinal skin crease incision and
involves ligation and division of the hernia sac (processus vaginalis).


Intestinal Obstruction

1. Describe the clinical features and abdominal signs

Thus may be recognised antenatally on ultrasound scanning. Otherwise,
small bowel obstruction presents with persistent vomiting, which is bile-
stained unless the obstruction is above the ampulla of Vater. Meconium
may initially be passed but subsequently stool passage is usually delayed
or absent. Abdominal distension becomes increasingly prominent the
more distal the bowel obstruction is. High lesions will present soon after
birth whilst low lesions may not present for several days. Abdominal pain
in the patient is common and is usually colicky in nature before becoming
more constant. It may be noticeable that the child is unable to keep still.

Abdominal tenderness may be minimal and diffuse or localised and
severe. The abdomen may also be tympanic to percussion. This can go on
to become peritonitis. A rectal examination should also be performed.

Bowel sounds can be categorised as follows:
Mechanical obstruction produces active, high pitched, hyperactive
bowel sounds
Peristalsis may be increased in the upper abdomen and decreased
in the lower
With time peristaltic waves and bowel sounds disappear

The clinical examination will vary depending on the cause and these will
be described in detail further down.

Small bowel obstruction may be caused by:
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Atresia or stenosis of the duodenum
Atresia or stenosis of the jejunum or ileum
Malrotation or Volvulus
Meconium ileus
Meconium plug
Large bowel obstruction may be caused by:
Hirschsprung disease
Rectal atresia


2. Be aware of the diagnostic workup of potentially dangerous conditions
like malrotation, intussusception; fluid management and treatment

Diagnosis is made on clinical features and abdominal x-ray showing
intestinal obstruction. Other tests that may be useful include U&Es,
creatinine, glucose, FBC, urinalysis, ABG and stool for occult blood.
Imaging should include an abdominal x-ray and potentially a chest x-ray
to assess for perforation.

Treatment will be included in the appropriate section but is often surgical.

Fluid management for these patients is important. Firstly the patient
needs to be assessed for dehydration. If there is no dehydration then give
maintenance fluids at 100ml/kg for first 1kg, 50ml/kg for second 10kg
then 20ml/kg for the remainder up to 2500ml/kg. If dehydrated then give
the deficit (fluid deficit = % dehydration x weight in kg x 10).


Intussusception

1. Outline the age at presentation and clinical features

Intussusception describes the invagination of proximal bowel into a distal
segment. It most commonly involves ileum passing into the caecum
through the ileocaecal valve. Intussusception is the commonest cause of
intestinal obstruction in infants after the neonatal period. Although it may
occur at any age the peak age of presentation is between 3 months and 2
years. The most serious complication is stretching and constriction of the
mesentery resulting in venous obstruction, causing engorgement and
bleeding from the bowel mucosa, fluid loss and bowel perforation,
peritonitis and gut necrosis.

Presentation is typically with:
Paroxysmal, severe colicky pain and pallor during episodes of pain
the child becomes blue around the mouth and draws up his legs.
The child will initially recover between painful episodes but
subsequently becomes increasingly lethargic
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May refuse feeds, may vomit which may become bile stained
depending on the site affected
A sausage-shaped mass is often palpable
Passage of a characteristic redcurrant jelly stool comprising blood-
stained mucus is a characteristic sign but tends to occur later
Abdominal distension and shock

Usually no identifiable cause is found but a lead point such as Meckel
diverticulum or polyp is more likely to be present in children over 2 years
old.


2. Understand the importance of prompt diagnosis and subsequent
treatment including air enema reduction

Prompt diagnosis is important along with immediate fluid resuscitation
and urgent reduction of the intussusception to avoid complications. This is
because there is often pooling of fluid in the gut which may lead to
hypovolaemic shock.

An x-ray of the abdomen may show a small bowel and absence of gas in
the distal colon or rectum. Sometimes the outline of the intussusception
can itself be visualised. Abdominal ultrasound is helpful to both confirm
the diagnosis and to check the response to treatment. Unless there are
signs of peritonitis then the intussusception can be reduced by rectal air
insufflations by a radiologist. This procedure should be done once the
child has been resuscitated. The rate of success is around 75% and the
remaining 25% require surgery. Recurrence is less than 5%.


Pyloric Stenosis

1. Describe the clinical features and epidemiology

Pyloric stenosis is a hypertrophy of the pyloric muscle causing gastric
outlet obstruction. It presents at between 2 and 7 weeks of age,
irrespective of gestational age. It is more common in boys (4:1) and
particularly in first-borns, potentially due to a family history on the
maternal side. Clinical features are:
Vomiting, which increases in frequency and forcefulness over time,
ultimately becoming projectile
Hunger after vomiting until dehydration leads to loss of interest in
feeding
Weight loss if presentation is delayed
A hypochloraemic metabolic alkalosis with a low plasma sodium and
potassium occur as a result of vomiting stomach contents.

Page | 181

The epidemiology is around 2-4/1000 live births and is most common in
the white population.


2. Understand the diagnostic investigations and treatment

Unless immediate fluid resuscitation is required then a test feed is
performed. The baby is given a milk feed, which will calm the hungry
infant, allowing examination. Gastric peristalsis may be seen as a wave
moving from left to right across the abdomen. The pyloric mass, which
feels like an olive, is usually palpable in the RUQ. If the stomach is over
distended with air, it will need to be emptied by a nasogastric tube to
allow palpation. Ultrasound examination is helpful if the diagnosis is in
doubt.

The initial priority is to correct fluid (see below for details) and electrolyte
imbalances with IV fluids. Once hydration and acid-base and electrolytes
are normal, definitive treatment by pyloromyotomy can be performed.
This involves division of the hypertrophied muscle down to, but not
including, the mucosa. The operation can be performed either as an open
procedure via a periumbilical incision or laparoscopically. Postoperatively
the child can usually be fed within 6 hours and discharged within 2 days
of surgery.


3. Describe the fluid and electrolyte imbalance, why this occurs and fluid
resuscitation

Hypochloraemic, hypokalaemic metabolic alkalosis is the classic acid-base
and electrolyte imbalance seen in pyloric stenosis. Persistent vomiting
causes the progressive loss of fluids rich in hydrochloric acid, which
causes the kidneys to retain hydrogen ions in favour of potassium.
Electrolyte abnormalities will depend on the duration of symptoms. The
dehydration may result in hyper or hyponatraemia and may result in
prerenal renal failure.

Treatment is with 0.45% saline and 5% dextrose with potassium
supplements. An initial 20ml/kg bolus should be given followed by 2-3
times their normal maintenance volumes. Regular reassessment is
needed.


Testicular Torsion

1. Describe the aetiology and causes of acute scrotum including torsion
and epididymo-orchitis

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Torsion

Testicular torsion is common in adolescents but may occur at any age,
including the perinatal period. The pain is not always centred on the
scrotum but may be in the groin or lower abdomen. Atypical presentation
is not unusual and the testes must always be examined whenever a boy
or young man presents with inguinal or lower abdominal pain of sudden
onset.

Torsion of the testes is more correctly torsion of the spermatic cord. It is
a surgical emergency and can cause strangulation of the gonadal blood
supply with subsequent testicular necrosis and atrophy. Patients often
complain of an acute-onset discomfort which may occur at rest or may
relate to sports or physical activities. They may describe similar episodes
which may suggest intermittent torsion. Patients deny voiding problems
or painful urination but may describe nausea and vomiting.

The spermatic cord typically twists in the inguinal canal or just below. An
extravaginal torsion (5%) usually manifests in the neonatal period and
most commonly develops prenatally in the spermatic cord, proximal to
the attachment of the tunica vaginalis. An intravaginal torsion (16%)
occurs within the tunica vaginalis and usually in older children (13 years
typically). The intravaginal torsion is related to anomalous testicular
suspension that has been referred to as the bell-clapper anomaly (a lack
of fixation). In many instances the anomaly may be bilateral but usually
the left is affected. Testicular salvage needs to occur within 6-8 hours.

Presentation is typically a firm, hard scrotal mass which does not
transilluminate in an otherwise asymptomatic newborn male. The scrotal
skin characteristically fixes to the necrotic gonad. In older boys the
presentation is sudden onset of severe testicular pain followed by inguinal
or scrotal swelling. Pain may lessen as necrosis becomes more complete.
Approximately one third of patients also have nausea and vomiting. In
some patients scrotal trauma or scrotal disease may precede the
presentation. A physical examination will reveal a swollen and tender,
high riding testis. There will be an absent cremasteric reflex.

Epididymo-orchitis

Epididymitis means inflammation of the epididymis whilst orchitis means
inflammation of the testis. As these two structures lie next to each other
it is often difficult to tell what is and isnt inflamed. Therefore the above
term is used.

Most causes are due to infection:
Urine infection bacterial infections, such as E.coli, can tract down
the vas deferens to cause an acute epididymo-orchitis. This can
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happen at any age and is the most common cause over 35. This is
because partial blockage of urine becomes more common with age.

STI a common cause in young men with chlamydia and
gonorrhoeal infection being most common.

Mumps can occur in 1 in 5 cases but is now uncommon due to
the MMR vaccination

Operation any operation in this area can cause this

Medication particularly amiodarone

Symptoms usually develop quickly over a day or so. The affected testis
swells rapidly and the scrotum becomes enlarged, tender, red and very
painful. There may also be other symptoms as a complication of the cause
i.e. pain when passing urine due to infection, fever, or discharge.


2. Compile a differential diagnosis of the acute scrotum and understand
the need for early exploration if in doubt

Torsion

Differential diagnosis includes:

Epididymitis, orchitis and epididymo-orchitis discussed in more
detail above and below. Usually occur due to an STI or urinary
reflux. Patients can develop these after excessive straining or lifting.
Testis tumour rarely acute and rarely painful
Hydrocele described later
Idiopathic scrotal oedema thickened and inflamed scrotal skin, the
testis is not inflamed and is in its normal size and position

Manual detorsion of the testis is needed within 6-8 hours and after 24
hours the testis will be completely dead. It is often difficult because of
acute pain during manipulation. This method is not a substitute for
surgical exploration. If successful then perform definitive surgical fixing as
an urgent rather than emergency procedure.

Epididymo-orchitis

Differentials include similar conditions to above: torsion, trauma, abscess
formation, tumour or hydrocele. Here appropriate rest and analgesia are
needed and there is less urgency (unless there is suspected torsion).
NSAIDs may be helpful and the patient should abstain from sex until it
has cleared up. An STI check should also be performed.
Page | 184



Volvulus

1. Describe the clinical features in relation to the anatomical abnormality

Firstly a brief word on malrotation and Volvulus. Malrotation is an
abnormality of the bowel which happens whilst the baby is developing.
Volvulus is a complication of malrotation and occurs when the bowel
twists so the blood supply to that part of the bowel is cut off. It is worth
noting that Volvulus can occur without malrotation but they are often
linked.

The key symptoms of Volvulus are bloody or dark red stools, constipation,
distended abdomen, pain or tenderness of the abdomen, nausea or
vomiting which is often bilious, failure to thrive and shock. A typical
presentation is bouts of crying and pulling the legs in towards the body
which then stops suddenly. This is caused by cramps as the bowel cannot
push food and liquid past the obstruction. If ischemia develops then signs
of an acute abdomen and peritonitis may be prominent.

Bilious vomiting is the key presenting symptoms and the child should be
presumed to have volvulus unless proven otherwise. Infants presenting in
the first 24 hours after birth through to the first week of life tend to have
more severe obstruction.


2. Understand that bilious vomiting in a child is a worrying feature and
always requires investigation

It is! Im not sure what to add here?


3. Describe the initial management of a child with a Volvulus

Investigations

The diagnosis is generally made clinically and management should not be
delayed in order to obtain results from tests. FBC will help show the
severity, white cells will show sepsis and a low Hb may suggest venous
oozing. Regular U&Es are essential to assess hydration status as well as
sepsis and acidosis. Since such a large volume of fluid can migrate from
the bowel the patient may present without diarrhoea and vomiting.
Hyponatraemia, hyperkalaemia, metabolic acidosis, increased urea and
creatinine, hypochloraemia and lactic acidosis can occur in such cases.

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In simple rotation a plain radiograph can often be normal so upright,
supine and lateral radiographs can be more useful when combined.
Contrast studies are the best for diagnosing volvulus and obviously take
time. Ultrasound and CT can also be done but are less necessary.

Management

Treatment is generally surgery and the volvulus is corrected by rotating
the small intestine in an anti-clockwise direction, with the caecum being
placed on the left side and the duodenum directed down to the right.
Initial management should include fluid resuscitation as with
intussusception.


Balanitis

1. Outline the natural history of foreskin pathology, conservative
management with antibiotics; exclude conditions like BXO (white scarring)
which needs circumcision

Balanitis is an inflammation of the end of the penis (the glans). Often the
foreskin is also inflamed at the same time as the glans. This is a common
condition that can occur at any age but more commonly it affects boys
under 4 years and men who are not circumcised. It is very uncommon in
circumcised men. The most common symptoms are redness, irritation and
soreness of the end of the penis. It can range from a small patch to the
whole glans becoming red, painful and swollen. Sometimes there is a
thick clumpy discharge that comes from under the foreskin. There may
also be pain or discomfort when passing urine.

The main causes are:
Poor hygiene combined with a tight foreskin this can lead to
irritation by smegma (a cheesy-like substance which forms under
the foreskin if the glans is not cleaned). This is the most common
cause
Infection (not STI) candida is a common infection and is more
likely if there is already inflammation, the patient has diabetes or
there is phimosis
STI less likely in children but should be considered
Allergy or irritants
Skin condition

Pathological phimosis is seen as a whitish scarring of the foreskin and is
rare before the age of 5. The condition is due to localised skin disease
known as Balanitis xerotica obliterans (BXO), which also involves the
glans penis and can cause urethral meatal stenosis. Symptoms here
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include burning, pruritus, hypoesthesia, dysuria, painful erection and
these occur over months to years.

Management

The diagnosis is usually clinical but if the doctor is unsure then a swab
may be taken for bacterial culture, there may be a check for diabetes or
there may be referral to a GUM clinic. A biopsy can be taken if
inflammation persists.

The following is recommended regardless of cause: avoid soaps when
inflammation is present and use luke warm water to wash penis and
gently dry. The treatment will depend on the cause of Balanitis but may
include:
Anti-yeast cream of anti yeast tablets
Antibiotics
A mild steroid cream


2. Understand that most non-retractile foreskins are physiologically
normal

Phimosis (unretractable foreskin) is common in young boys. After the age
of five years the foreskin will usually retract easily so the glans can be
gently cleaned. You are more likely to get Balanitis if you have phimosis
as sweat, debris and urine may collect under the foreskin.

A non-retractable foreskin will be present in 50% at one year, 10% at 4
years and 1% at 16 years.


Cervical Lymphadenopathy

1. List the differential diagnosis and initial investigations including biopsy
for large nodes

Cervical lymphadenopathy is a common problem in children. The
condition most commonly represents a transient response to a benign
local or generalised infection but occasionally it might herald the presence
of a more serious disorder. Acute bilateral cervical lymphadenopathy is
usually caused by a viral URTI or streptococcal pharyngitis. Acute
unilateral cervical lymphadenitis is caused by streptococcal or
staphylococcal infection in 40-80% of cases. The most common causes of
sub-acute or chronic lymphadenitis are cat scratch disease, mycobacterial
infection and toxoplasmosis. Supraclavicular or posterior cervical
lymphadenopathy carries a much higher risk of malignancies than does
anterior cervical lymphadenopathy.
Page | 187


25% of all malignancies in children occur in the head and neck. During
the first 6 years of life, neuroblastoma and leukaemia are the most
common tumours associated with cervical lymphadenopathy, followed by
rhabdomyosarcoma and non-Hodgkins lymphoma. After 6 years the
Hodgkins lymphoma is the most common tumour.

Differential diagnosis includes:
Mumps the swelling crosses the angle of the jaw
Thyroglossal cyst moves up on swallowing or with tongue
protrusion
Brachial cleft cyst a smooth and fluctuant mass located along the
lower anterior border of the sternomastoid muscle
Sternomastoid tumour hard, spindle shaped mass in the muscle
resulting from perinatal haemorrhage of the muscle with
subsequent healing by fibrosis. Can be moved horizontally but not
vertically
Cervical ribs orthopaedic anomalies that are usually bilateral, hard
and immovable
Cystic hygroma a multiloculated, endothelial lined cyst that is
diffuse, soft and compressible, contains lymphatic fluid and typically
transilluminates
Haemangioma a congenital vascular anomaly that often is present
at birth or appears shortly thereafter. The mass is usually red or
bluish
Laryngocele a soft, cystic, compressible mass that extends out of
the larynx and through the thyrohyoid membrane and becomes
larger with the valsalva manoeuvre. There may be associated
stridor or hoarseness.
Dermoid cyst a midline cyst that contains solid and cystic
components

Investigations

Tests are rarely necessary but include a FBC to screen for infection or
leukaemia, ESR to check for infection, ASA titre, throat culture, Mantoux
test, chest radiology and serological tests (for EBV, CMV and
toxoplasmosis). An electrocardiogram and echocardiogram are indicated if
Kawasaki disease (autoimmune disease of blood vessels) is suspected.
Ultrasound and CT might help to differentiate a solid from cystic mass and
to establish the presence and extent of suppuration or infiltration.

FNA and culture is a safe procedure to determine the causative organism
and appropriate antibiotic. Excisional biopsy and microscopic examination
may be necessary if there are signs or symptoms of malignancy.


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Cleft Lip and Palate

1. Recognise the clinical features, and know the common associations
with other conditions

About 1 in 700 children have cleft lip or palate and 0.8 per 1000 have
both. Cleft lip may be unilateral or bilateral and it is a result of the failure
of fusion of the frontonasal and maxillary processes. It can be incomplete
or complete (connection to the nostril or not). Cleft palate results from
failure of fusion of the palatine processes and the nasal septum. The cleft
often includes the soft palate and here cleft lip is often present too. Again
it can be complete (soft and hard palate) or incomplete (soft palate). This
hole connects the mouth directly to the nasal cavity. Generally
approximately half of all affected babies have cleft palate, a quarter have
cleft lip and a quarter have both. The combination is more common in
boys and cleft palate is more common in girls.

Common problems and presenting clinical features are:
Feeding problems inadequate suck
Ear infections and hearing impairment
Speech and language problems (repaired before speech starts to
develop)
Dental health change in structure
Psychological issues

Associated conditions/drugs include anticonvulsant therapy, isotretinoin,
Patau syndrome and a whole host of other chromosomal disorders.
Smoking, alcohol, obesity, lack of folate and hypertension in the mother,
have all been linked to this defect.

Pierre Robin syndrome is linked and is a rare condition where the baby is
born with an abnormally small lower jaw that causes their tongue to fall
backwards in their throat, causing breathing difficulties.


2. Be aware of the long term problems and feeding issues

The long term problems are similar to those above and include dental,
speech and language, ear infections, hearing, and psychological problems.

Clefts generally make feeding more difficult but some affected infants can
still be breast fed affectively. In bottle-fed infants this can be more
difficult and milk may be observed entering the babies nose and causing
it to cough and choke. Special teats and feeding devices may be helpful
here. Orthodontic advice and a dental prosthesis may help with feeding.

Page | 189

Secretory otitis media is relatively common and should be sought on
follow-up. Infants are also prone to acute otitis media. Adenoidectomy is
best avoided as the resulting gap will exacerbate feeding problems and
the nasal quality of speech.

These defects can be surgically corrected.


Diaphragmatic Hernia

1. Be aware of this congenital condition and the basic embryology

A congenital diaphragmatic hernia is one of the more common
malformations in the newborn (1 per 2000) and is most frequently caused
by failure of one or both of the pleuroperitoneal membranes to close the
pericardioperitoneal canals. In that case, the peritoneal and pleural
cavities are continuous with one another along the posterior body wall.
This hernia allows abdominal viscera to enter the pleural cavity. In 85 to
90% of cases the hernia is on the left side, and intestinal loops, stomach,
spleen and part of the liver enter the thoracic cavity. The abdominal
viscera in the chest push the heart anteriorly and compress the lungs,
which are commonly hypoplastic. A large defect is associated with a high
rate of mortality (75%) from pulmonary hypoplasia and dysfunction.

Occasionally a small part of the muscular fibres of the diaphragm fails to
develop and a hernia may remain undiscovered until the child is several
years old. Such a defect, frequently seen in the anterior portion of the
diaphragm, is a parasternal hernia. Another type of diaphragmatic hernia
is an oesophageal hernia, thought to be due to oesophageal shortness.

Most cases are now diagnosed prenatally on ultrasound following the
discovery of polyhydramnios in the mother. Depending on the severity the
signs will often be:
Cyanosis shortly after birth
Tachypnoea
Tachycardia
Asymmetry of the chest wall
Absent breath sounds on one side of the chest (usually the left)
Bowel sounds audible over the chest wall
The abdomen feels less full on palpation
A shift of cardiac sounds
Signs of pneumothorax


2. Understand the basic management with ventilation and drugs to
stabilise patient following surgical repair

Page | 190

Severely affected infants have chronic lung disease and these children
may require prolonged therapy of supplemental oxygen and diuretics.
These children may also require ventilation whilst their lungs recover.
Fluids are restricted to 40ml/kg for the first 24 hours, with an extra
10ml/kg being added until the 7
th
day. NG or IV feeding should also be
started. Intermediate mandatory ventilation is used to wean the child off
ventilation and can take up to 6 weeks.


Head Injury

1. Outline the evaluation of a child with minor head injury including GCS

Initially the patient will need assessing for the mode of injury and if there
is any need for resuscitation. A primary survey of ABCDE should be
conducted along with GCS (max = motor 6, verbal 5, eyes 4). If the GCS
in normal check they are haemodynamically stable, perform a
neurological assessment and check for any other injuries. If there are no
focal neurological signs then send home with written advice.

If there is a potentially serious head injury after assessing ABC then the
following should be true:
Witnessed loss of consciousness >5 minutes
Amnesia > 5 minutes
3 or more episodes of vomiting
Clinical suspicion of NAI
Post-traumatic seizure without history of epilepsy
GCS <15 (<14 if under 1)
Suspicion of open/depressed skull injury
Sign of skull base fracture (CSF leak, purple around eyes or ear
drum)
Dangerous mechanism (high speed traffic, fall>3m etc)

If the above is the case then an immediate CT head scan is needed and
the cervical spine should also be imaged. Along with the results there
should also be consideration of a persisting coma, decrease in GCS,
seizures without full recovery and focal neurological signs. If there is
evidence of secondary damage, a penetrating injury or CSF leak then
immediate neurosurgical referral is needed.


2. List the indications for admission and imaging

Imaging is required if there is a potentially serious head injury. This is
determined on clinical signs as well as the above bullet points. A child
may be admitted for observation if it is felt the parent cannot give the
necessary support but generally mild injuries will be discharged. A child
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will need admitting if they are shown, or it is suspected that they have a
serious head injury.


3. Be aware of other injuries that can occur together

Primary damage: cerebral contusions or lacerations, dural tears and
diffuse axonal damage

Secondary damage: hypoxia from airway obstruction or inadequate
ventilation, hypoglycaemia and hyperglycaemia, reduced cerebral
perfusion due to hypotension or raised ICP, haematoma (extradural,
subdural or intracranial) and infection from an open would or CSF leak.
Cervical spine injuries also need to be assessed as a matter of urgency as
moving a fractured spine can cause paralysis.


Hydrocele

1. Describe the pathology and difference from hernia

A hydrocele is cause by a patent processus vaginalis, which is sufficiently
narrow to prevent the formation of an inguinal hernia but still wide
enough to allow peritoneal fluid to track down around the testis to form a
hydrocele. Hydroceles are asymptomatic scrotal swellings, often bilateral,
and sometimes with bluish discolouration. They may be tense or lax but
are non-tender and transilluminate. Some hydroceles are not evident at
birth but present in early childhood after a viral or GI illness. The majority
resolve spontaneously as the processus continues to obliterate, but
surgery is considered if it persists beyond 18-24 months of age. A
hydrocele of the cord forms a non-tender mobile swelling in the spermatic
cord.


2. Outline the management of a hernia

Generally surgical and outlined above


Malrotation

1. Have a basic understanding of the embryology of intestinal rotation,
clinical features and the risk of Volvulus

At the fourth week of gestation the gastrointestinal system is a straight
tube from the stomach to the rectum. The bowel then moves into the
umbilical cord temporarily whilst it develops into the small and large
Page | 192

bowel. Around the tenth week of pregnancy the bowel moves back into
the abdomen and coils up to fit into the limited space there. If the bowel
does not coil up in the correct position then it is malrotation. This is
because it is not fixed at the duodenojejunal flexure or in the ileocaecal
region due to incorrect rotation around the superior mesenteric artery.

Malrotation may have no symptoms and many people are never
diagnosed with it because it causes them no problems. However bands of
tissue that block the small bowel (duodenum) can develop. This means
food cannot easily pass through to the rest of the bowel. Generally 1 in
500 live births are affected and 60% present by the age of one month.
This malrotation can lead to complete or partial intestinal obstruction.
Either way the main sign is green bilious vomiting. Physical signs may
include distension and pain, vascular compromise, intraluminal bleeding,
guarding, shock and peritonitis.


Necrotising Enterocolitis

1. Describe the epidemiology and clinical and radiological features

Necrotising enterocolitis is a serious illness mainly affecting preterm
infants in the first few weeks of life (pseudomonas aeruginosa is thought
to be the cause). It is associated with bacterial invasion of ischaemic
bowel wall. This is the most common GI emergency occurring in neonates
and is an acute inflammatory disease with a multifactorial and
controversial aetiology. The condition is characterised by variable damage
to the intestinal tract from mucosal injury to full thickness necrosis and
perforation. This condition represents a significant clinical problem and
affects close to 10% of infants who weigh less than 1500g with mortality
rates of 50% of more depending on severity. It can also be observed in
term and near-term babies but is less common.

Males and females seem to be equally affected and there is no difference
across races. There are 1-2 cases per 1000 live births in the USA. Those
with a PDA are at increased risk.

NEC mostly affects the terminal ileum and proximal ascending colon but
can affect any part of the bowel. Infants fed cows milk formula are more
likely to develop this condition than if they are breast fed. Initial
symptoms can be subtle and include:
Feeding intolerance
Delayed gastric emptying
Abdominal distension and tenderness
Ileus
Erythema
Or systemic signs that are non-specific:
Page | 193

Apnoea
Lethargy
Decreased peripheral perfusion
Shock
Cardiovascular collapse
Hypoglycaemia

Specific symptoms that might be part of the history include bilious
vomiting, abdominal distension, blood per rectum, free abdominal air and
systemic shock.

The characteristic x-ray features are distended loops of bowel and
thickening of the bowel wall with intramural gas. The disease may
progress to perforation and x-ray will show gas under the diaphragm,
transillumination of the abdomen and intraperitoneal fluid.


2. Outline the medical management and indications for surgery

Investigations should include FBC, blood cultures, U&Es, ABG and
imaging (x-ray +/- ultrasound). Treatment is to stop oral feeding and give
broad spectrum antibiotics to cover both aerobic and anaerobic
organisms. Parenteral nutrition is always needed and artificial ventilation
and circulatory support are often needed. The disease has significant
morbidity and mortality and the long-term sequelae include development
of strictures and malabsorption if extensive bowel resection has been
necessary.


Solid Tumours

1. Formulate a differential diagnosis

The word tumour does not directly imply cancer. Some tumours are
benign but in discussing malignant tumours the word solid is used to
distinguish between a localised mass of tissue and leukaemia. Different
types of tumour are named for the type of cells of which they are
composed:
Sarcomas cancers arising from the connective tissue such as bone
or muscle
Carcinomas arising from the bodys glandular cells and epithelial
cells which line body tissues
Lymphomas cancers of the lymph organs such as the lymph
nodes, spleen and thymus.

Now I will talk about the various types of solid tumour that may be found
in a young person.
Page | 194


Lymphomas

These can broadly be divided into Hodgkins disease and non-Hodgkins
lymphomas. Hodgkins disease tends to involve peripheral lymph nodes,
where the first sign of disease may be a painless swelling in the neck,
armpit or groin. Hodgkins disease occurs most commonly in patients in
their twenties and thirties and occasionally in adolescents. It is rare in
younger children.

In children non-Hodgkins lymphoma most commonly occurs in the bowel,
particularly in the region adjacent to the appendix and in the upper-mid
section of the chest. An initial sign here may be abdominal pain or
swelling, or swelling of the face and neck. Non-Hodgkins lymphoma can
also occur in other organs including the liver, spleen, bone marrow, lymph
nodes, CNS and bones.

Lymphomas can only be diagnosed definitively through a biopsy. Once
this is done the tumour will need to be staged and located through a
combination of radiological scans and blood tests. Hodgkins disease is
highly susceptible to radiotherapy for localised disease. However these
cancers are often spread throughout the body so chemotherapy is the
main treatment of choice.

Brain tumours

Without being too specific brain tumours are classified and named for the
type of tissue in which they develop. As a group, brain tumours are the
second most common cancer in children. They can occur at any age,
including infancy and in adolescence, but are most often seen in children
5 to 10 years old.

Symptoms include seizures, morning headaches, vomiting, irritability,
behavioural problems, a change in eating and sleeping, lethargy or
clumsiness. Diagnosis is often difficult as these symptoms can and
frequently do indicate any number of problems, either physical or
emotional. Diagnostic tests usually include an X-ray, MRI or CT scan.
Treatment for the most part is with surgery and radiation.

Neuroblastoma

Will be described below but is a tumour of nerve cells

Wilms tumour

Will be described below but is a tumour of the cells in the kidney

Page | 195

Retinoblastoma

This is a rare cancer of the eye and can be hereditary with one third of
cases affecting both eyes. This can usually be identified by looking at the
eye but direct vision under general anaesthesia may be needed. The
disease tends to remain localised for long periods but may spread in
advanced disease. If diagnosis is early it is possible to destroy the tumour
with radiotherapy and preserve normal vision. If extensive then the eye
may need to be removed.

Rhabdomyosarcoma

This is a soft tissue sarcoma arising in muscles. It occurs slightly more
frequently in males and usually affects children between the age of 2 and
6. Although it can occur in any muscle tissue, it is generally found in the
head, neck, pelvis and the extremities. It can grow and spread quite
rapidly but fortunately its symptoms are more obvious than other
cancers. A noticeable lump or swelling is seen in almost all cases. Other
symptoms will depend on what structures it grows near to. Definitive
diagnosis relies on biopsy.

Osteogenic Sarcoma

This is the most common type of bone cancer in children and arising as
the end of the bones. The bones most frequently involved are the large
bones of the upper arm (humerus) and leg (femur and tibia). These
usually occur between the age of 10 and 25 and are more common in
males. Young people with this type of cancer generally complain of pain
and swelling which they may blame on injury. Diagnosis can be difficult
but relies on the x-ray picture and a biopsy. Treatment is surgical
(amputation or limb sparing) followed by chemotherapy.

Ewings Sarcoma

This differs from an osteosarcoma in that it affects the bone shaft and
tends to be found in bones other than the long bones of the arm and leg,
such as the ribs. It usually occurs between 10 and 25 and is seen more
often in males, frequently spreading to other bones and the lung. Young
people with this cancer more often have general signs such as fever, chills
and weakness. Biopsy and x-ray are needed for diagnosis and treatment
is with intensive radiotherapy and chemotherapy.


2. Have a basic understanding of Wilms tumour, neuroblastoma and
sacrococcygeal teratoma

Wilms tumour affects the kidneys
Page | 196


This is the commonest intra-abdominal cancer of childhood (20%). It is
an undifferentiated mesodermal tumour of intermediate cell mass and
may be sporadic or familial. It usually develops in otherwise healthy
children but approximately 10% occur in children with recognised
malformations. It is usually unilateral (95%) and tends to be
encapsulated and vascularised, not crossing the midline. The tumour may
comprise of muscle, cartilage, bone and fibrous tissue and compresses
the normal renal structures.

Presentation is at around 3 years with an abnormally large abdomen,
abdominal pain in the flank, fever, nausea and vomiting, blood in the
urine (20%) and high BP in some cases. It can usually be easily palpated
by a doctor but will need a biopsy for definitive diagnosis. Ultrasound and
MRI will be done first to locate the mass and guide the biopsy. Usual
treatment is a nephrectomy followed by chemotherapy and also
radiotherapy of the flank is advised. Survival is 80-90% at 4 years but
prognosis after recurrence is poor (30-40%).

Neuroblastoma

These tumours arise from young nerve cells for an unknown reason. It is
quite common and 50% of cases will present in children under 2. It is a
neuroendocrine tumour arising from any neural crest element of the SNS.
It most frequently originates from the adrenal glands but can develop
elsewhere.

Symptoms include a mass, listlessness, persistent diarrhoea, breathing
problems, (if near lungs), weakness (if near spine) and pain. The tumour
often spreads and 50-60% will have metastasised before presentation.
Diagnosis includes blood tests and an ultrasound. An IV pyelogram and
urine tests may also be helpful. Treatment is surgical with adjunct
chemotherapy and radiotherapy.

Sacrococcygeal teratoma

This is a teratoma located at the base of the coccyx that is thought to be
derived from the primitive streak and is benign. It is seen in 1 in 35,000
live births and occurs more commonly in girls (3:1). It is the most
common tumour in newborns and may present on antenatal scanning or
as a palpable lump and may be mistaken for spinal bifida. The treatment
is complete surgical removal.


Suppurative Adenitis or Lymphadenitis

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1. List the common causes, investigations and diagnosis (including
biopsy)

Lymphadenitis is the inflammation and/or enlargement of lymph nodes
and is common in children (see cervical lymphadenopathy). Most cases
present in response to benign, local or generalised infections and may be
a single node or a cluster. The onset can be acute, sub-acute or chronic
and there are a wide range of causes. Most children with this will exhibit
small palpable cervical, axillary and inguinal nodes.

The history is generally the following:
URTI with sore throat, earache, coryza conjunctivitis or impetigo
Fever, irritability and anorexia
Contact with animals, especially kittens

Dental care is important and dental abscesses can cause lymphadenitis.
Acute bilateral cervical adenitis can be due to viral pharyngitis or
mononucleosis. A history of travel is also important for obvious reasons.

Causes are generally infection but can include autoimmune disorders. The
following are potential causes:
Staph, strep and viruses
TB
Cellulitis
Salmonella
HBV
CMV
Toxoplasmosis
Juvenile rheumatoid arthritis
Serum sickness
Leukaemia
Hodgkin lymphoma (or non-Hodgkins)
HIV

Investigations

Since there are many different causes it is important to tailor the
investigations to the clinical findings in addition to the lymphadenitis.
Investigations may include a gram stain, culture of aspirate, serology,
WBC count, ESR, LFTs and skin tests. Ultrasound and a chest radiograph
may also be useful. Biopsy, either FNA, excisional or partial, may be
done.

Treatment

Completely dependent on the cause but may be antimicrobial,
chemotherapy or radiotherapy.
Page | 198



Tracheo-oesophageal Fistula +/- Atresia

1. Describe presentation, the different types and basic management

Oesophageal atresia should first be considered as a cause of maternal
polyhydramnios (excess fluid in the amniotic sac). There may also be
absent gas on prenatal ultrasound. Neonates with oesophageal atresia
usually develop copious, fine white frothy bubbles of mucus in the mouth
and nose. Secretions will recur despite suctioning. Infants may develop a
rattling respiration and episodes of coughing and choking in association
with cyanosis.

Symptoms will worsen during feeding in the presence of a TEF (tracheo-
oesophageal fistula). The symptoms induced by a malignant TEF are
cough, aspiration and fever. The average duration from onset of
symptoms to diagnosis is around 12 days. A physical examination should
be done to exclude other abnormalities. In the presence of a TEF
abdominal distension may occur, secondary to collection of air in the
stomach.

No causes have been founded but this condition is linked to trisomy 18,
21 and 13. Acquired TEFs may arise from trauma or mechanical
ventilation.

Subtypes

There are five basic types of oesophageal abnormality:
Type A (90%): a blind ending proximal part of the oesophagus with
the distal oesophagus joined to the trachea in a TEF
Type B (4%): a blind ending proximal and distal oesophagus
Type C (4%): the oesophagus communicates with the trachea but is
intact
Type D (1%): a proximal TEF and blind ending distal oesophagus
Type E (1%): a proximal and distal TEF with no connection between
the two

Management

Investigations will include an ultrasound prenatally which may show
polyhydramnios, absence of fluid in the stomach, a small abdomen, lower
than expected fetal weight and a distended oesophageal pouch.

Postnatal diagnosis should include:
Chest x-ray deviation, absence of gastric bubble, aspiration
pneumonia of upper lobes
Page | 199

Insertion of an NG tube may show coiling in the mediastinum
Contrast studies seldom requires and increase the risk of
aspiration pneumonia and pulmonary injury.
CT scan will give a clear picture of the type of defect and its location
Flexible oesophagoscopy and bronchoscopy visual identification

In healthy infants without pulmonary complications a repair is carried out
within the first few days of life. If there are complications then initial
treatment is with parenteral nutrition, gastrostomy and upper pouch
suction until they are considered low risk. Pre-operatively a cuffed tube is
placed distally to the fistula to prevent reflux. If palliative then treatment
should be relief of obstruction and diversion of contamination away from
the respiratory tract.

Supportive measures include NG drainage, tracheostomy, gastrostomy
and IV hydration and antibiotics. The repair is done via a right
thoracotomy.


Undescended Testicle

1. Identify a palpable vs. impalpable testicle and the management

An undescended testis has been arrested along its normal pathway of
descent. At birth about 4% of full-term male infants will have a unilateral
or bilateral undescended testis (cryptorchidism). It is more common in
preterm infants because the testicular descent through the inguinal canal
occurs in the third trimester. Testicular descent may continue during early
infancy and by 3 months of age the overall rate of cryptorchidism in boys
is 1.5%, with little change thereafter. Contrary to previous teaching, it is
now recognised that a descended testis can ascend to an inguinal position
during childhood, accounting for some late-presenting undescended
testis. This may be due to a shortening of the cord structures during the
growth of the child.

Examination should be carried out in a warm room with warm hands and
a relaxed child. The testes can then be brought down into a palpable
position be gently massaging the contents of the inguinal canal towards to
scrotum.

Classification of the position of the testes is:
Retractile: can be manipulated into the bottom of the scrotum
without tension but subsequently retract back into the inguinal
region, pulled up by the cremasteric muscle. With age the testis will
usually reside permanently in the scrotum.
Palpable: can be palpated in the groin but cannot be manipulated
into the scrotum. Occasionally a testis is ectopic when it lies outside
Page | 200

of the normal line of descent and may be found in the perineum or
femoral triangle.
Impalpable: no testis can be felt on detailed examination and the
testis may be in the inguinal canal, intra-abdominal or absent.

Investigations should include:
Ultrasound: identifying the testis in the inguinal region but cannot
reliably distinguish between an intra-abdominal or absent testis. It
is usually done in bilateral impalpable testes to verify their
presence.
Hormonal: for bilateral impalpable testes the presence of testicular
tissue can be confirmed by recording a serum rise of testosterone in
response to IM injection of human chorionic gonadotrophin (HCG).
Laparoscopy: investigation of choice

Management

Surgical placement of the testis in the scrotum (orchidopexy) is
undertaken for several reasons:
Fertility: to optimise spermatogenesis the testis needed to be in the
scrotum below body temperature. This is usually done in the second
year of life but referral should occur after 6 months. Fertility after
one undescended testis is near 100% but this drops to 50% with
bilateral undescended testes post surgery. Men with bilateral
impalpable testes are usually sterile.
Malignancy: there is an increased risk of malignancy with the risk
highest in bilateral undescended testes. The risk may be lower as
the testes can be palpated if in the scrotum allowing for early
detection
Cosmetic and psychological: important to consider and prosthesis
can be used followed by an increase in size for adults.


2. Be aware of the risks of operating vs. not operating and the later risks

Combined with the management section above


Abdominal Wall Defects

1. List the clinical features of gastroschisis and exomphalos (associated
anomalities with latter)

Exomphalos literally translates to mean outside the naval. It is a
congenital abnormality in which the contents of the abdomen herniate
into the umbilical cord through the umbilical ring. The viscera, which often
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includes the liver, is covered by a thin membrane consisting of
peritoneum and amnion.

Gastroschisis means stomach cleft and is a congenital defect of the
abdominal wall, usually to the right of the umbilical cord insertion.
Abdominal contents herniate into the amniotic sac, usually just involving
the small intestine but sometimes also the stomach, colon and ovaries.
Unlike exomphalos there is no covering membrane.

These both are the most common congenital abnormalities encountered
by paediatric surgeons. The incidence of exomphalos is 2 per 5000 births
and is linked with increased maternal age and genetics. The incidence of
gastroschisis is 4-5 per 10,000 births. Both abnormalities have been
linked to conditions affecting placental insufficiency including illness,
infection, drugs and smoking.

Presentation is pretty obvious at birth but can be diagnosed antenatally
with ultrasound or a raise alpha-fetoprotein in the second trimester.
Gastroschisis in particular is associated with other congenital defects.


2. Be aware of the common umbilical abnormalities patent vitello-
intestinal duct/urachus, umbilical granuloma, bladder exstrophy

Urachus

This is where a fibrous remnant of the allantois is persistent. This is
normally a canal that joins the urinary bladder of the fetus with the
umbilical cord. This will lead to leakage of urine from the umbilicus and
needs surgical removal. There are four anatomical cases:
Urachal cyst no connection between umbilicus and bladder
Urachal fistula a free connection between them
Urachal diverticulum bladder out pouching
Urachal sinus pouch opens towards umbilicus

Patent vitello intestinal duct

This is similar to a urachus but is where the vitello intestinal duct does not
close and leads to a discharge of enteric contents from the umbilicus in
the first few days of life.

Umbilical granuloma

This is where the inflammatory process at the umbilicus becomes florid
with excess granulation tissue preventing the raw area from developing
new epithelial cells. The interruption of this normal process is usually due
to infection and will usually respond to silver nitrate cauterisation.
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Bladder exstrophy

This is a congenital abnormality in which part of the urinary bladder is
present outside the body. It is rare (10,000 to 50,000 live births) with a
male to female ratio of 2:1. It is due to a failure of the abdominal wall to
close during development and leads to the anterior bladder protruding.
Treatment here is surgical correction.


Anorectal Malformations

1. Be aware of the classification: high and low anomalities and the
associations

Anorectal malformations are birth defects where the anus and rectum do
not develop properly. With an anorectal malformation several
abnormalities can occur including the following:
A membrane may be present over the anal opening
The rectum may not be connected to the anus (imperforate anus)
The rectum may be connected to part of the urinary tract or the
reproductive system through a fistula.
Anal stenosis
The rectum may be connected to another part of the skin

Malformations like this occur in 1 per 4000-5000 births and are slightly
more common in boys. The defects can be classified into low defects
(close to the skin) or high defects (far away from skin).

There are many associations with these conditions. Cardiovascular
malformations occur in 12-22%, the most common being TOF and VSD.
Many GI malformations are also associated including tracheo-oesophageal
anomalies, duodenal atresia, malrotation and Hirschsprung disease.
Sacral/spinal problems are associated, especially with high anomalities.
Vaginal and uterine problems are common.


2. Outline the surgical management

If feeds have been started then they should be stopped and then an NG
tube passed to empty the stomach. Fluids will be given via a peripheral
cannula and an x-ray will be taken to identify where and what the
anomaly is. All babies will be given a small dose of antibiotics initially and
these will need to be continued for several months.

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Low anomalities are treated with an anoplasty. This is where the anus is
exposed under the skin. This will need serial dilators passing through the
new hole regularly to prevent initial stenosis.

High anomalities will require a temporary colostomy initially. Several
weeks after this operation, when the child is feeding again, the bowel will
be imaged to assess its anatomy. Then an appropriate operation will
occur to form a new anus.


Atresias of the Bowel

1. Be aware of these in the newborn period and their clinical/radiological
features

Jejunoileal atresia and stenosis are major causes of neonatal intestinal
obstruction. Atresia refers to a congenital obstruction that is complete.
Most newborns will present with a bilious vomit. The prevalence is pretty
low at 2 per 10,000 live births yet intestinal atresia counts for 1/3 of all
neonatal intestinal obstruction. The atresia can be in the duodenum
(heavily associated with Down syndrome), jejunum or ileum.

They present, as mentioned, with bilious vomiting, prematurity,
polyhydramnios and low birth weight. Additional early signs are jaundice,
abdominal distension and a failure to pass meconium. There will also be
signs of continuous fluid loss such as dehydration, poor urine output,
tachycardia and neurological involvement.

Plain abdominal radiograph will show a dilated gas bubble and massively
dilated proximal bowel with a gasless abdomen distal to the obstruction.
Contrast studies will clearly show the anomaly.


Circumcision

1. Outline the medical indications and complications

At birth the foreskin is adherent to the surface of the glans penis. These
adhesions separate spontaneously with time, allowing the foreskin to
become more mobile and eventually retractile. At 1 year of age
approximately 50% of boys have non-retractile foreskins but at 4 years
this is 10% and 1% at 16 years. A non-retractable foreskin leads to
ballooning on micturation, which is physiological. Gentle retraction of the
foreskin at bath times helps to maintain hygiene, but forcible retraction
should be avoided.

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Two conditions that require reassurance are preputial adhesions (where
the foreskin remains partly adherent to the gland) and the presence of
white pearls under the foreskin due to trapped epithelial squames. Both
conditions are usually asymptomatic and resolve spontaneously.

Circumcision is no longer routinely justified on medical grounds and it is
not without its risks and morbidity. The few medical indications are:
Phimosis: inability to retract the foreskin which is physiological at
birth. Pathological phimosis is characterised by white scaring (BXO).
Recurrent balanoposthitis: single attack of redness and
inflammation of the foreskin, sometimes with a purulent discharge,
is common and usually responds rapidly to warm baths and a
broad-spectrum antibiotic. Recurrent attacks of this are uncommon
and circumcision is occasionally indicated
Recurrent UTIs: although more common in uncircumcised boys the
overall incidence is low and routine circumcision is not justified.
There is some data so show circumcised men are less likely to
contract HIV

Surgery is performed under general anaesthetic and healing can take up
to 10 days with discomfort for several days. Bleeding and infection are
well recognised complications but more serious hazards such as damage
to the glands may occur. Topical corticosteroids to the prepuce have been
shown to facilitate retraction of a non-retractile prepuce, with success
rates of up to 80%. Here it is applied twice daily for 2-3 months.


Congenital Neck Cyst

1. Compile a differential diagnosis based on anatomical location

Most of these differentials are included in the cervical lymphadenopathy
section. They include:
Thyroglossal duct cyst a remnant of the developing thyroid gland
and tongue. If the duct remains then there will be a midline mass
that moves up on swallowing or on protrusion of the tongue. The
entire tract needs to be completely removed to stop occurance
Branchial cleft cyst congenital lesions that arise from remnants of
a slight cleft or defect during gestation. They are usually found on
the side of the necks of children aged 2-10 and can change in size
and shape. They are often noted after URTI. They may have
external openings from which mucus drains out.
Dermoid cyst slow growing, benign tumours which may occur in
the midline of the neck. They are usually firm lumps attached to the
overlying skin.
Enlarged lymph nodes most commonly found lumps or swellings
in children. They can be caused by bacterial or viral infections,
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malignancies or other rarer causes. Their management is described
above.

Other enlargements include the salivary glands, sebaceous cysts and
thyroid gland swellings.


Labial Adhesions

1. Be aware of the clinical features and basic management

Labial adhesions are a common disorder in prepubertal females. The
disorder is usually asymptomatic and is often first noticed by parents or
during a routine physical examination.

A host of other pediatric vaginal or
urethral disorders, including an imperforate hymen or a septate vagina,
must be excluded. Treatment of labial adhesions is typically conservative.
They occur most often in infants and girls aged 3 months to 6 years with
a peak incidence between 1-2 years.

A typical history is of an asymptomatic disorder noticed by parents.
However parents may notice urine pooling in the vagina with voiding and
the subsequent urine leakage when the child stands post voiding. Children
may have some discomfort when voiding (rare) or have increased UTIs
(rare).

Labial adhesions are generally readily apparent as thin, pale, semi-
translucent membranes covering the vaginal os between the labia minora.
In severe cases these adhesions entirely close the vignal os. Typically
they begin posteriorly and progress a variable distance anteriorly towards
to clitoris. A full examination should check for interlabial masses, genital
anomalies, fusion of the labia majora and signs of sexual abuse.

The cause is thought to be due to low estrogen levels but the protective
effect of maternal estrogen makes labial adhesions uncommon in the
newborn period. They may also be caused by vaginal inflammation, local
irritation of tissue trauma. Therefore child sex abuse needs to be
considered and is associated with lacerations and hematomas.

Management

No investigations are indicated

Treatment is generally observation and spontaneous resolution has been
reported in as many as 80% within 1 year. If treatment is necessary
based on symptoms or parental request then estrogen cream is indicated.
It is directly applied to the labia minora and can be used twice daily for 2-
4 weeks. The success rate here is around 90%. Parents may also use the
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pull down manoeuvre (the labia majora are grasped and gentle retracted
caudally and laterally) to facilitate gentle takedown of the adhesions.
Once the adhesions are separated apply an emollient or antibiotic
ointment 3-5 times a day for several months to allow complete healing
and prevent recurrence.


Meckels Diverticulum

1. Outline the clinical features and complications namely abdominal pain
mimicking appendicitis, lower GI bleed, obstruction

This is the vestigial remnant of the vitellointestinal duct due to its
incomplete obliteration. It is the most frequent malformation of the GI
tract. If present it is located in the distal ileum, usually within 100cm of
the ileocaecal valve. It is present in around 2% of the population but only
causes problems in a small proportion (4%). For asymptomatic
diverticular there is no gender predominance but if symptomatic then it
may be more common in boys. There are two types of complication that
can require clinical attention. The first is ectopic mucosal tissue which can
often lead to GI bleeding in younger children. The second is to do with
other intra-abdominal structures i.e. obstruction. In children under 2 the
classic sign is painless rectal bleeding. However over half the cases
present in children over 2, generally at 2-8 years.

Most patients are asymptomatic and Meckels diverticulum is found
incidentally on investigation during endoscopy or a barium study. If
symptomatic then complications can be divided into several sections:

Bowel obstruction (35%) abdominal pain, vomiting and
constipation are common. The pain may be anywhere in the
abdomen but, when localised to the RIF, it can mimic appendicitis
(Meckels Diverticulitis). Various mechanisms cause this obstruction
including fibrous bands that can lead to volvulus or intussusception.

Haemorrhage (32%) more common in younger children and
presents with bright red blood in the stools. The blood can vary in
quantity and also in colour depending on the guts transit time

Diverticulitis (22%) similar symptoms to appendicitis and is acute
inflammation of the diverticulum

Umbilical abnormalities (10%) this can include fistulas, cysts,
sinuses and fibrous bands from the diverticulum to the umbilicus.


Varicocele
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1. List the clinical features and risks

A varicocele is an abnormal dilatation of the testicular veins in the
pampiniform venous plexus, caused by venous reflux. They are important
because they are well recognised to cause a reduction of testicular
function and are associated with male infertility. They are most common
on the left for anatomical reasons:
The angle at which the left testicular vein enters the left renal vein
Lack of effective valves between the testicular and renal veins
Increased reflux from compression of the renal veins

It is unusual in boys under the age of 10years and increases in incidence
after puberty. The incidence of 15-20% in adolescents is similar to that in
adults. They are found in 40% of infertile men.

They are usually asymptomatic (between 2-10% have symptoms) and
only rarely cause pain. The scrotum is often described as feeling like a
bag of worms. Patients may report scrotal heaviness or it may be an
incidental finding on examination. They are often found on investigation
for infertility.

Careful examination of a man stood to attention is the most important
method of detection. The scrotum of the side of the varicocele hangs
lower than on the normal side. Dilation and tortuosity of the veins
increase with standing and usually decrease on lying down. The varicocele
can often not be palpated when the patient is lying down. Performing the
valsalva manoeuvre whilst standing increases the dilation and there may
be a cough impulse.

More are in the left testicle (80-90%), some bilateral and very few on the
right side. Large and easily identified are grade 3, moderate and identified
on palpation are grade 2 and small, only identified on valsalva, are grade
1. However examination is not the most reliable investigation so others
such as sperm count, Doppler studies and ultrasound examination are
needed.

The risk, as mentioned above, is infertility. Surgery can help correct this
problem and improves fertility in around half of patients, doubling their
fertility rate.


Genetics and Syndromes

Down Syndrome

1. Understand the cytogenetics and obstetric risk factors
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The extra chromosome 21 may result from meiotic non-disjunction,
translocation or mosaicism.

Meiotic non-disjunction (94%):

This is an error in meiosis where a pair of chromosome 21 fail to separate
so one gamete has two chromosome 21s. Fertilisation of this gamete adds
another 21 and hence there are three. This incidence is related to
maternal age but only drastically increases over 30. Furthermore the
extra 21 can occur in spermatogenesis so can be of paternal origin. All
mothers are now offered screening for this during pregnancy. The risk of
recurrent Down syndrome is 1 in 200 for mothers under 35 but remains
similar to the age-related population risk for those over the age of 35.

Translocation (5%)

This is when the extra chromosome 21 is joined onto another
chromosome (usually 14 but can be 15, 22 or 21) and this is known as
Robertsonian translocation. This may be present in a phenotypically
normal carrier with 45 chromosomes (two being joined together) or in
someone with Down syndrome with a set of 46 chromosomes but three
copies of 21. In this situation parental chromosome analysis is
recommended. The risk is 10-15% if the mother is the carrier and 2.5% if
the dad is. If a parent carries a 21:21 translocation then all children will
be affected.

Mosaicism (1%)

Some cells are normal and some have trisomy 21. This usually arises
after the formation of the chromosomally normal zygote by non-
disjunction at mitosis but can arise by later mitotic non-disjunction in a
trisomy 21 conception. The phenotype is sometimes milder in Down
syndrome mosaicism.


2. List the clinical features and associated problems

Down syndrome is the most common autosomal trisomy and the most
common genetic cause of severe learning difficulties. The incidence in
live-born infants is about 1 in 650. Characteristic clinical manifestations
can be divided into two sections:

Typical craniofacial appearance:
Round face and flat nasal bridge
Upslanted palpebral fissures
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Epicanthic folds (a fold of skin running across the inner edge of the
palpebral fissure)
Brushfield spots in the iris (pigmented spots)
Small mouth and protruding tongue
Small ears
Flat occiput and third fontanelle

Other abnormalities:
Short neck
Single palmar creases, incurved fifth finger and wide sandal gap
between toes
Hypotonia
Congenital heart defects (40%)
Duodenal atresia
Hirschsprung disease

It is difficult to give a long term prognosis in the neonatal period as there
is individual variation in the degree of learning disability and development
of complications. Over 85% survive to 1 year of age. Congenital heart
disease is present in 30%. At least 50% of affected individuals live longer
than 50 years.


3. Outline the diagnostic investigations

The diagnosis can be difficult to make when relying on clinical signs alone
and should be confirmed by a senior paediatric clinician. Before blood is
sent for analysis the parents should be informed that a test for Down
syndrome is being performed. The results may take 1-2 days using rapid
FISH (fluorescent in situ hybridisation) techniques. There are also
investigations that can be performed in utero including biochemical
markers, nuchal thickness on ultrasound and amniocentesis.


4. Outline the long term problems and multi-disciplinary nature of care

Later medical problems include:
Delayed motor milestones
Moderate to severe learning difficulties
Small stature
Increased susceptibility to infections
Hearing impairment from secretory otitis media
Visual impairment for cataracts, squints and myopia
Increased risk of leukaemia and solid tumours
Risk of atlanto-axial instability
Increased risk of hypothyroidism and coeliac disease
Epilepsy
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Alzheimers disease


Turner Syndrome

1. Understand the cytogenetics

Usually >95% result in early miscarriage (incompatible with life for
males) and is increasingly detected by ultrasound antenatally when fetal
oedema of the neck, hands, feet or a cystic hygroma may be identified.
The incidence is 1 in 2500 live births. In about 50% of girls with Turner
syndrome there are 45 chromosomes, with only one X chromosome. The
other cases have a deletion of the short arm of one X chromosome, an
isochromosome that has two long arms but no short arms or a variety of
other structural defects of one of the X chromosomes. The presence of a Y
chromosome sequence may increase the risk of gonadoblastoma. There
can also be a mosaic form of Turner syndrome where the X chromosome
is only missing from some cells.


2. List the clinical features and associated problems

Girls and women who have Turner syndrome often have a wide range of
medical symptoms and characteristics however there are two
characteristics that occur in almost all cases. They are:
Being shorter than average height
A lack of development of the ovaries leading to infertility

The clinical features are:
Lymphoedema of hands and feet in neonates which may persist
Spoon-shaped nails
Short stature a cardinal feature
Neck webbing or thick neck
Wide carrying angle
Widely spaced nipples
Congenital heart defects (Coarctation of the aorta)
Delayed puberty
Ovarian dysgenesis resulting in infertility
Hypothyroidism
Renal anomalies
Pigmented moles
Recurrent otitis media
Normal intellectual function in most


3. Outline the diagnostic investigations

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An ultrasound investigation will often reveal fetal oedema of the neck,
hands and feed or a cystic hygroma. Further tests include chorionic villus
sampling and amniocentesis for genetic screening.


4. Outline the long term problems and management options

Long term problems include:
Heart murmur
Underactive thyroid
High BP
Osteoporosis
Scoliosis
Diabetes
Lymphoedema
GI bleeding
Kidney and urinary tract problems

Aside from medical problems there are also psychological problems which
include
Learning difficulties and lack of social intelligence (rare)
Spatial awareness and numeracy problems
Attention and hyperactivity problems
Infertility

Management

Regular health checks are indicated for girls and women with Turner
syndrome to provide early preventative care. This includes hearing and
ears, blood pressure, thyroid gland, glucose levels and bone mineral
density. Growth hormone therapy can also be provided to girls who are
obviously not growing normally as it will help prevent short height in
adulthood. Growth hormone is usually started at the age of 5 or 6 but it
can be started later and usually continues until 15 or 16. However the GH
can give many side effects including headaches, visual problems, nausea,
vomiting, joint pain, insulin resistance and underactive thyroid to name
but a few.

Oestrogen and progesterone replacement therapy is given to aid sexual
development and maintain this until around 50 years old. Treatment
should be started around 12 to 15 to minimise its affect on growth.
Fertility cannot be restored to these women but IVF if a viable alternative.

Additional support is available for learning difficulties and other
psychosocial problems.


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Duchenne Muscular Dystrophy

1. Understand the mode of inheritance

Duchenne muscular dystrophy is the most common phenotype affecting 1
in 4000 male infants. It is inherited as an x-linked recessive disorder,
although about a third have new mutations. It results from a deletion on
the short arm of the X chromosome (at the Xp21 site). This codes for a
protein called dystrophin which connects the cytoskeleton of a muscle
fibre to the surrounding extracellular matrix through the cell membrane.
Where it is deficient there are several aberrant intracellular signalling
pathway associations including an influx of calcium ions, a breakdown of
the calcium calmodulin complex and an excess of free radicals, ultimately
leading to myofibre necrosis.


2. Describe the clinical features

Children present with a waddling gait and/or language delay; they have to
mount stairs one by one and run slowly compared to their peers.
Although the average age of diagnosis remains 5.5 years, children often
become symptomatic much earlier (around 3 years old). They will show
Gowers sign (a need to turn prone to rise). There is pseudohypertrophy of
the calves because of replacement of muscle fibres by fat and fibrous
tissue. In the early school years affected boys tend to be slower and
clumsier than their peers. The progression of muscular atrophy and
weakness means that they are no longer ambulant by the age of about
10-14. Life expectancy is reduced to the late twenties from respiratory
failure or the associated cardiomyopathy. About one third have learning
difficulties and scoliosis is a common complication.


3. Outline the early diagnostic signs/symptoms and initial screening tests

Early symptoms/signs of DMD include difficulty climbing the stairs, unable
to play sports as they used to and finding it hard to lift objects. The child
may have difficulty walking and may fall down more often than expected.
The child may also use Gowers manoeuvre to stand.

Investigations will include a family history (important), blood tests
(creatine kinase to check for muscle breakdown) and muscle biopsy
(conclusive and also helps determine type of MD). Other tests include
MRI, CT, X-ray (for the heart), EMG of the muscle and an
echocardiogram.


4. Be aware of the management of cases from time of diagnosis
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Appropriate exercise helps to maintain muscle power and mobility and
delays the onset of scoliosis. Contractures, particularly at the ankles,
should be prevented by passive stretching and the provision of night
splints. Walking can be prolonged with the provision of orthoses, in
particular those which allow ambulation by leaning from side to side.
Lengthening of the Achilles tendon may be required to facilitate
ambulation (walking/moving). Attention to maintaining a good sitting
posture helps to minimise the risk of scoliosis. Scoliosis is managed with a
truncal brace, a moulded seat and ultimately surgical insertion of a metal
spinal rod. Later in the condition, episodes of nocturnal hypoxia secondary
to weakness of the intercostals muscles may present with lassitude or
irritability. Respiratory aids, particularly overnight CPAP or NIPPV may be
provided to improve quality of life. Ambulant children with DMD are
increasingly treated with corticosteroids to preserve mobility and prevent
scoliosis.

Heart conditions can also occur and these need appropriate monitoring
and treatment if required.


Dysmorphism

1. Understand the importance of genetic counselling in paediatrics

The main aims of genetic counselling are supportive and educational.
Genetic counselling aims to support and provide information for
individuals, couples and families:
To understand their situation
To make their own decisions about managing the disease or risk of
disease, including decisions about genetic testing and reproduction
To adjust to their situation of being affected by or at risk of the
genetic condition

A primary goal of genetic counselling is to provide information to allow
greater autonomy and choice in reproductive decisions and other areas of
personal life. Avoiding additional cases of genetic disease in a family may
be a consequence of genetic counselling but is not the primary aim. The
elements of genetic counselling include:
Listening to questions and concerns of the patient, client or family
Establishing the correct diagnosis: This involves detailed history,
examination and appropriate investigations that may include
chromosome or DNA or other molecular genetic analysis,
biochemical tests, X-rays and clinical photographs. Despite
extensive investigation the diagnosis may remain unknown, e.g. a
child with learning disability and mild or non-specific dysmorphic
features.
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Risk estimation: this requires both diagnostic and pedigree
information. Drawing a pedigree of three generations is essential as
part of a clinical genetic assessment. The mode of inheritance may
be apparent from this. However in some cases it may not be
possible to define a precise recurrence risk and uncertainty may
remain, e.g. conditions that only affect one member of a family and
can be both autosomal recessive or dominant
Communication: information must be presented in an
understandable and unbiased way. Families often prefer written
information as they can refer back to it. Diagrams can be
particularly useful to explain patterns of inheritance.
Discussing options for management and prevention: if there
appears to be a risk to offspring then all reproductive options should
be discussed. These include not having any more children, reducing
intended family size, taking the risk and proceeding, having
antenatal diagnosis and selective termination, having donor
insemination or using IVF with preimplantation diagnosis.


2. Describe some common dysmorphic features associated with
syndromes

Dysmorphic features can occur from a number of pathogenic mechanisms
which include malformation (a structural defect occurring during
development), deformation (an intrauterine mechanical force that distorts
a normally formed structure), disruption (destruction of parts that
originally were normal) and dysplasia (abnormal cellular structure or
function of specific tissues.

These defects can be a single system defect, a sequence of defects (one
leads to another), an association (group of defects but in different
patterns each time) or a syndrome (a set of anomalies occurring
repeatedly in a specific pattern). Syndromes may be due to chromosomal
defects, a single gene defect, exposure to teratogens or due to an
unknown cause.

Common dysmorphic features include:
Noonan syndrome short stature, broad forehead, wide distance
between eyes, drooping eyelids, low-set ears, small jaw, short neck
and a lower than normal hairline

Williams syndrome upturned nose, widely spaced eyes, small
chin, slightly puffy cheeks and irregular widespread teeth

Prader-willi syndrome almond shaped eyes, narrowing of the
forehead at the temple, narrow bridge of nose, thin upper lip and
upturned mouth
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Downs Syndrome eyes that slant up, small ears, flat back of
head, small mouth, protruding tongue, flattened nasal bridge, white
spots on the iris, short fingers, broad hands with single crease,
loose skin on back of neck, poor muscle tone, loos joints, low birth
weight and vertical folds (epicanthic folds) between the upper
eyelids and inner corner of the eye


Neurofibromatosis and Tuberous Sclerosis

1. Outline the diagnostic criteria and types

Quick summary TS is a genetic condition that causes non-malignant
tumours to grow in the brain and other vital organs. NF on the other hand
is a genetic condition that causes the nerve tissue to grow benign
tumours.

Neurofibromaosis

Type 1 neurofibromatosis affects 1 in 3000 live births and is an autosomal
dominant, highly penetrant condition. One third of patients have a new
mutation.

Type 2 neurofibromatosis affects 1 in 25,000 live births and is a central
form with CNS lesions rather than peripheral nerves. Again this is an
autosomal dominant and highly penetrant condition.

Type 1 diagnostic criteria (2 or more of)
Six or more caf au lait spots >5mm in size before puberty,
>15mm after puberty
More than one neurofibroma, an unsightly firm nodular overgrowth
of any nerve
Axillary freckles
Optic gliomas which may cause visual impairment
One Lisch nodule, a hamartoma of the iris seen on slit-lamp
examination
Bony lesions from sphenoid dysplasia, which can cause eye
protrusion
A first degree relative with NF1

Type 2 diagnostic criteria
Bilateral 8
th
nerve masses on MRI scan
A first degree relative with NF2 for a unilateral 8
th
nerve mass
A first degree relative with NF2 for an individual with at least two of
the following: meningioma, gliomas, schwannoma or juvenile
cataracts
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Tuberous Sclerosis

This disorder is a dominantly inherited disorder but up to 70% are new
mutations. Prevalence is 1 in 9000 births. The diagnostic criteria are as
follows: (2 major or 1 major and 2 minor)

Major:
Facial angiofibromas
At least 3 hypomelanotic macules (ash leaf spots)
Shagreen patch (connective tissue naevus)
Cortical tuber
Cardiac rhabdomyoma
Retinal hamartoma
Renal angiomyolipoma

Minor:
Pits in dental enamel
Hamartomatous rectal polyps
Bone cysts
Gingival fibromas
Non-renal hamartoma
Multiple renal cysts
Skin tags
Positive history in first degree relative

It typically presents in childhood with skin changes and epilepsy before
the age of 5 years.


2. Be aware of the clinical features and presentation

Neurofibromatosis

Type 1 - The clinical features and presentation are listed in the diagnostic
criteria. However to recap these are coffee-coloured patches, freckles and
bumps on or under the skin. Type 1 NF usually presents with the
unsightly neurofibroma.

There are also several systems that seem to be commonly affected:
Learning and behaviour around 60% having learning difficulties,
although only mild. ADHD is also relatively common in these
children
The eyes about 14% develop a non-cancerous tumour of the optic
nerve.
High blood pressure
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Physical development scoliosis, larger head than normal, smaller
and underweight compared to normal
Brain and CNS migraines, epilepsy, personality change, weakness
of one sign of body

Type 2 Again the clinical features are listed above and symptoms
usually dont develop until around 20 years of age. The systems that are
affected include:
Ears gradual hearing loss, tinnitus and balance problems, nausea
vomiting, vertigo
Facial nerve numbness or weakness of face, facial pain
Brain headaches, vomiting, seizures (fits), disturbed vision,
additionally a tumour (meningioma) can affect any area of the brain
and cause a whole host of problems.
Spine back pain, muscle weakness, unpleasant sensations
Skin tumours
PNS - neuropathy
Eyes - cataracts

Type 2 NF usually presents with bilateral acoustic neuromata, deafness
and sometimes CPA syndrome with facial nerve paresis and cerebellar
ataxia

Tuberous Sclerosis

The clinical features consist of cutaneous features:
Depigmented ash leaf shaped patch which fluoresce under UV light
(Woods light)
Roughened patches of skin (shagreen patches) usually over the
lumbar spine
Adenoma sebaceum (angiofibromata) has a butterfly distribution
over the bridge of the nose and cheeks, which are unusual before
the age of 3 years.

Neurological features:
Infantile spasms (many seizures each lasting a few seconds) and
developmental delay
Epilepsy often focal
Intellectual impairment

Other features:
Fibromata beneath the nails
Dense white areas on the retina from local degeneration
Rhabdomyomata of the heart which usually resolve
Polycystic kidneys
Brain lesions
Heart tumours
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Lung tumours


3. Be aware of the long term health problems

These are listed above in the clinical features but generally include
epilepsy, learning difficulties, tumours and physical deformities of the
spine.


Achondroplasia

1. Be able to outline the clinical features and long term problems

Achondroplasia is an inherited autosomal dominant condition but about
50% are new mutations. Clinical features include short stature from
marked shortening of the limbs, a large head, frontal bossing and
depression of the nasal bridge. The hands are short and broad, there is
marked lumbar lordosis and hydrocephalus sometimes occurs.

Achondroplasia is the most common cause of short limb dwarfism and
incidence generally increases with paternal age. It is thought to affect 1 in
10,000 live births but the homozygous form is lethal so only
heterozygotes are seen. The condition becomes more obvious in the first
year of life. Fingertips may only come down to the iliac crest and the
shortness is most evident in the proximal limb segments. Limbs appear
very broad with deep creases and trident like hands and skulls show a
bulging vault.

Long term complications are:
Difficulty in arm functioning and locomotion
Neurological problems (ataxia, incontinence, pain, quadriparesis)
due to spinal canal stenosis
Early osteoarthritis
Kyphosis
Obesity
ENT abnormalities include increased otitis media, speech delay,
deafness, jaw malocclusion and URTI
Respiratory complications such as apnoea

Generally life expectancy is normal


Foetal Alcohol Syndrome

1. Understand the aetiology, key features and neurodevelopmental
problems
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Fetal alcohol syndrome (FAS) is not a uniform picture but a spectrum of
disorders varying in severity. The three main components of FAS are
facial abnormalities (especially in the mid-facial area), intrauterine growth
retardation and failure to catch up, and mental problems of cognitive
impairment, learning disabilities and impulsiveness.

Alcohol is rated the most common cause of mental and behavioural
problems in children, surpassing Downs syndrome and neural tube
defects. It is estimated to affect 2 per 1000 live births.

Alcohol can cross the placental barrier and cause stunted fetal growth and
weight, damaging neurons and causing brain damage. The exact reason
why alcohol is so damaging is unknown but it is thought the metabolites
can disrupt protein synthesis and alter metabolism of energy substrates.
It has also been suggested that alcohol in excess can lead to fetal
hypoxia.

FAS can affect almost every system so it is important to focus on the
major affects. These are:
Failure of growth weight, length and head circumference are all
reduced and cannot be restored with catch up
Craniofacial abnormalities hypoplasia of the mid-face, flat
philtrum, micrognathia (small jaw), thin upper lip, cleft palate,
posterior rotation of ears, microcephaly and microphthalmia (small
eyes)
MSK and urogenital deformities ranging from contracture of the
finger joints to congenital dislocation of the hip
Cardiac congenital heart disease and VSD
Neurological delirium tremens (alcohol withdrawal), epilepsy and
cerebellar ataxia
Developmental delay and learning difficulties the average IQ of a
child with FAS is 65 compared to the national average of 100. These
children also have hyperactivity and significant problems when they
start school


Fragile X

1. Be aware of syndrome and the risk of learning difficulties

Fragile X syndrome is a genetic syndrome that is the most common
inherited cause of mental retardation and is the second most common
cause of genetically associated mental deficiencies after trisomy 21. The
syndrome is associated with a gene sequence on the x-chromosome
which causes a fault in normal neural development. Diagnosis is often
made in nursery or primary school and problems include autistic like
Page | 220

behaviour, ADHD and mental retardation. It affects 1 in 4000 males and 1
in 8000 females.

The history

During infancy developmental milestones are normal but at around the
first year of life there are delays in speech and language development, as
well as fine motor skills. As the child ages there becomes increasing
echolalia and a lack of short-term memory or problem solving abilities. IQ
can range anywhere from 20-80 but is more severely affected in males.

Patients develop many neuropsychological features including depression,
general and separation anxiety and oppositional defiant disorder. Autistic
like behaviour is present in around 30% but conversational ability can be
preserved. Behavioural features seen are very common to those of ADHD.
Around 10% of patients will have seizures and OCD is another common
feature.

Physically

Growth is marked by an early growth spurt although adult height is often
average or sub-average. Craniofacial features include a long face thin face
with prominent ears facial asymmetry a large head circumference and a
prominent forehead and jaw. There is dental overcrowding and a high-
arched palate, the ears are typically large and may protrude, and
nystagmus or astigmatism of often present.

The extremities show hyperextensible finger joints, hand calluses, double-
jointed thumbs, a single palmar crease and flat feet. Pectus excavatum
and scoliosis are other common findings. A heart murmur consistent with
mitral prolapse is common, as is macroorchidism.


Marfans Syndrome

1. Know the clinical features and later risks

Marfans syndrome is an inherited condition that affects the bodys
connective tissue. This leads to characteristic skeletal, dermatological,
cardiac, aortic, ocular and dural malformations. The pattern of inheritance
is autosomal dominant with complete penetrance. The incidence is 2-3
per 10,000 of the population; it affects both sexes equally and is equally
prevalent worldwide in all races.

Symptoms: the condition can be asymptomatic. Patients are
disproportionately tall and thin with unusually long arms and legs
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compared to their trunk and a cadaverous physique. They often have
long spidery fingers and toes (arachnodactyly).

Signs:
Skin striae
Heart and blood vessels thoracic duct
dilatation/rupture/dissection, aortic regurgitation, mitral valve
prolapse, mitral regurgitation, abdominal aortic aneurysm, cardiac
dysrhythmia
Eyes lens dislocation, closed angle glaucoma, high myopia
Joints hypermobility, arthralgia, instability
Skeleton pectus excavatum, kyphoscoliosis
Arachnodactyly shown by walkers wrist sign (little finger and
thumb overlap when around wrist) and Steinbergs sign (thumb in
clenched fist overlaps with ulnar border).
Facial characteristics maxillary/mandibular retrognathia, long face
and high arched palate are all important

Prognosis and complications

The average age of death across England and Wales is 70 years with
medical intervention and cardiac stabilising drugs/surgery. The main
cause of death is cardiovascular disease or other vascular complications


PKU

1. Briefly outline the diagnosis and management

This is a rare congenital disorder present from birth and is where the body
is unable to breakdown phenylalanine which then builds up in the blood
and brain. Left untreated high levels of phenylalanine disrupt the normal
development of a childs brain and cause severe learning difficulties.
Those who are most severely affected will never surpass the capability of
a one or two year old.

Treated PKU

Most babies with PKU will appear healthy at birth and if dietary treatment
is started in the first three weeks of life then there should be no
problems. Children and adults affected will suffer problems with certain
high level functioning such as attention, planning and problem solving.
These are usually due to high phenylalanine and will improve with
treatment. Depression, anxiety disorder and phobias are also more
common.

Untreated PKU
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The most common symptom is learning disability and becomes more
severe the longer treatment is delayed. Other symptoms include
behavioural difficulties, very fair hair and skin, eczema and epilepsy

Diagnosis

All newborns are screened for PKU by blood test. Regular blood tests will
then be done to monitor the condition

Management

A low protein diet is key and hence avoiding meats, eggs, fish, cheese,
beer and flour is vital. Daily dietary supplements will be given to help
replace the nutrients normally gained from these foods. Aspartame the
artificial sugar found in diet drinks and foods should be avoided.

Management is with these measures and regular blood tests to assess
blood phenylalanine levels. A drug called sapropterin has been used in
some children and is an enzyme that encourages PAH (the faulty enzyme)
to work. It is however very expensive at over 100,000 per year.


Retts Syndrome

1. Appreciate the presenting features and development regression

Retts syndrome is a pervasive developmental disorder and causes a
childs development to halt and regress. It is the most common of the
pervasive developmental disorders but still only affects around 1 in
20,000 people. The condition often causes sufferers to display autism like
behaviours but differs from classical autism in that there is a period of
normal development. This syndrome almost always affects girls and
presents as follows:

Stage 1 development arrest
Around 6 18 months there is a gross motor developmental delay,
loss of eye contact and waning interest in play. Hypotonia may
occur and hand wringing is common

Stage 2 rapid developmental regression
Aged 1 4 years there is a deterioration of head circumference,
loss of verbal communication, autism like behaviours, loss of social
interactions, vacant spells, breath holding, irritability and disturbed
sleep

Stage 3 stationary phase
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Aged 2 10 years persisting motor and intellectual impairment but
may be improvement in social interactions and communication
Poor weight gain and scoliosis

Stage 4 late motor deterioration
At the age of 10 there is dystonia, hypertonia and Parkinsonism.
Walking may cease and fitting frequency decreases.
Quadriparesis, muscle wasting, growth retardation and breathing
abnormalities.


Neonatology

Congenital Heart Disease

1. Know the incidence and most common congenital heart lesions
presenting in the neonatal period

This is all discussed in the cardiac section. I assume that the lesions that
present in neonates will be the most serious which include duct
dependent lesions, transposition of the great arteries, aortic valve
stenosis and hypoplastic left heart syndrome. Severe acyanotic lesions
can also present here.


2. Know the conditions that present with cyanosis and those that are
acyanotic

Basically cyanotic lesions are those that involve right to left shunts
(Tetralogy of Fallot, transposition of great arteries) and common mixing
(AVSD complete). Acyanotic lesions will generally be those with a left to
right shunt (VSD, ASD and persistent arterial duct) and outflow
obstruction if not severe (PS and AS). Severe outflow obstruction will
present with collapse and shock.


3. Identify the clinical and radiological features of common congenital
heart disease lesions, i.e. VSD, PDA, pulmonary stenosis, ASD, Tetralogy
of Fallot, Coarctation of the aorta and transposition of the great vessels,
AVSD

Covered in detail in the cardiac section


4. Know the common congenital heart lesions associated with Down
Syndrome and Turner Syndrome

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Down syndrome is associated with AVSD and VSD with 30% incidence.
Turner syndrome is associated with aortic valve stenosis and Coarctation
of the aorta in 15%.


Group B Streptococcus (GBS) Infection

1. Know the risk factors for neonatal invasive GBS

Around 10-30% of pregnant women have faecal or vaginal carriage of
group B streptococci. The organism can cause both early and late onset
sepsis. In early onset sepsis (first 48 hours) the newborn baby has
respiratory distress and pneumonia. In the UK approximately 0.5-1 in
1000 babies have early-onset infection; most have pneumonia only, but it
may cause septicaemia and meningitis. The severity of the neonatal
presentation depends on the duration of the infection in utero. Mortality in
babies with a positive blood or CSF culture is up to 10%. Up to half of
infants born to mothers who carry group B streptococcus are colonised on
their mucous membranes or skin. Some of these babies develop late
onset disease (>48 hours after birth), up to 3 months of age. It usually
presents with meningitis, or occasionally with focal infection e.g.
osteomyelitis or septic arthritis.

In colonised mothers risk factors for infection are:
Preterm babies
Prolonged rupture of membranes
Maternal fever during labour (>38
o
C)
Maternal chorioamnionitis (inflammation of fetal membranes
chorion and amnion)
Previously infected infant


2. Know the antenatal and postnatal management of known GBS positive
mums and their babies

Prophylactic intrapartum antibiotics given intravenously to the mother can
prevent group B streptococcus infection in the newborn baby. There are
two approaches to the use of intrapartum antibiotics either universal
screening at 35-38 weeks to identify mothers who are carriers or a risk
based approach in which mothers who are high risk are given antibiotics.

The infant will usually present with respiratory distress, apnoea and
temperature instability. A chest x-ray should be performed together with
a septic screen. A full blood count is performed to detect a neutropenia as
well as blood cultures. An acute-phase reactant is helpful (CRP) but takes
12-24 hours to rise. Antibiotics are started immediately without waiting
for cultures and are usually broad spectrum amoxicillin or benzylpenicillin.
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If cultures are negative and clinical signs return to normal then stop after
48 hours. If positive then continue, check for neurological signs and
examine + culture the CSF.


Neonatal Infection

1. List the common viral and bacterial pathogens causing disease in the
newborn



2. List the key features of the following common viral illnesses affecting
the fetus/newborn: CMV, Rubella, Toxoplasmosis

Cytomegalovirus

This is usually transmitted via saliva, genital secretions or breast milk and
more rarely via blood products, organ transplants and transplacentally.
The virus causes mild or subclinical infection in normal hosts. In
developed countries, about half of the adult population show serological
evidence of past infection. In developing countries, most children have
been infected by 2 years of age, often via breast milk. In the
immunocompromised and the fetus, CMV is an important pathogen.

CMV is the most common congenital infection, affecting 3-4 per 1000 live
births in the UK. In Europe 50% of pregnant women are susceptible to
CMV. About 1% of susceptible women will have a primary infection during
pregnancy, and in about 40% of them the infant becomes infected. The
infant may also become infected following an episode of recurrent
infection in the mother, but this is much less likely to damage the fetus.
When an infant is infected:
90% are normal at birth and have normal development
5% have clinical features at birth such as hepatosplenomegaly and
petechiae, most of whom will have neurodevelopmental disabilities
such as sensorineural hearing loss, cerebral palsy, epilepsy and
cognitive impairment
5% develop problems later in life, mainly sensorineural hearing loss

Infection in the pregnancy woman is usually asymptomatic or causes a
mild non-specific illness. There is no CMV vaccine and pregnant women
are not screening for CMV. Antiviral therapy for infected infants with
ganciclovir is a potential treatment of the future.

Rubella

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The diagnosis of maternal infection must be confirmed serologically as
clinical diagnosis is unreliable. The risk and extent of fetal damage are
mainly determined by the gestational age at the onset of maternal
infection. Infection before 8 weeks gestation causes deafness, congenital
heart disease and cataracts in over 80%. About 30% of foetuses of
mothers infected at 13-16 weeks gestation have impaired hearing;
beyond 18 weeks gestation the risk to the fetus is minimal. This is
preventable with the MMR vaccine.

Toxoplasmosis

Acute infection with this protozoan parasite may result from the
consumption of raw or undercooked meat and from contact with the
faeces of recently infected cats. In the UK fewer than 20% of pregnant
women have had past infection. Transplacental infection may occur during
the parasitaemia of a primary infection, and about 40% of foetuses
become infected. In the UK the incidence of congenital infection is only
about 0.1 per 1000 live births and most infected infants are
asymptomatic. About 10% have clinical manifestations of which the most
common are:
Retinopathy, an acute fundal chorioretinitis which sometimes
interferes with vision
Cerebral calcification
Hydrocephalus
These infants have long term neurological disabilities. Infected newborns
are usually treated for 1 year with pyrimethamine and sulfadiazine.


3. Outline the key management steps in the care of the HIV positive
mother and her baby

Diagnosis in children over 18 months is by detecting HIV antibodies. In
children below 18 months they may have these antibodies from their
mother and does not necessarily prove infection. Here HIV PCR is needed
within the first 3 months of life. Clinical features in an untreated child are
lymphadenopathy, hepatosplenomegaly, recurrent fever, parotid swelling,
thrombocytopenia, or serious recurrent infections eventually all leading to
AIDS.

Treatment for the child should be based on clinical status, viral load and
CD4 count but infants should all start ART shortly after diagnosis because
they are at a high risk of disease progression. As in adults a combination
of three or four drugs are used. PCP prophylaxis is given in the form of
co-trimoxazole. Other aspects of management include:
Immunisations including hepatitis A, B, VZV and influenza should be
given. BCG should not be given as it is a live vaccine and may lead
to disseminated disease
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Multidisciplinary management in a family clinic
Regular follow up with attention paid to weight, neurodevelopment
and clinical signs of disease. In adolescents the importance of safe
sex, fertility and pregnancy need discussing.

Vertical transmission is more likely with a high viral load and advanced
disease. Breast feeding increases the risk to 25-40% alone. However the
risk can be reduced to <1% by:
Use of maternal antenatal, perinatal and postnatal antiretroviral
drugs to achieve an undetectable maternal viral load at the time of
delivery
Avoidance of breast feeding
Active management of labour and delivery to avoid prolonged
rupture of membranes or unnecessary instrumentation
Pre-labour caesarean section if the mothers viral load is detectable
close to the time of delivery.
In some parts of the world avoiding breast feeding is not safe for the baby
so the mother needs antiretroviral therapy, as does the child.


4. List the main risk factors for neonatal infection

Infection is common in preterm infants and they are at increased risk of
infection because no IgG has been transferred across the placenta until
the last trimester. Another cause of increased infection is that there is
often infection around the cervix being the cause of preterm labour. Many
other infections occur days after birth and are hospital derived.

There is an increased risk of infection if there is prolonged rupture of
membranes (>18 hours). Later infections are most likely to be
environmental and come from indwelling lines or catheters.


5. Know and recognise the presenting symptoms and signs of neonatal
infection including common sexually transmitted infections

Syphilis

This is very rare in the UK but if caught when pregnant, leads to a very
high infant mortality shortly after birth. Symptoms of a newborn infection
include failure to thrive, fever, irritability, no bridge to nose, early rash
(small blisters), larger rash, rash of the mouth, anus and genitalia, watery
discharge from the nose, splenomegaly, hepatomegaly, bone
inflammation. Complications include blindness, deafness, deformities of
the face and neurological problems. Treated with penicillin

Chlamydia
Page | 228


Usually affects the eyes causing conjunctivitis along with swelling of the
eyelids at 1-2 weeks of age but may present shortly after birth. A
pneumonia may also develop at 4-6 weeks of age. Treated with oral
erythromycin.

Gonorrhoea

Associated with chorioamnionitis and increased risk of premature labour.
40% of untreated maternal cases develop ophthalmia neonatorum
presenting with purulent discharge, lid swelling and corneal haze within 4
days of birth. This needs treating urgently to prevent blindness. Treated
with penicillin or a third generation cephalosporin

Hepatitis B/C

There is a higher risk of chronic hepatitis and all the associated problems.
Treatment is passive immunisation within 24 hours of birth.

Herpes

Occurs in between 1 in 3000 and 20,000 live births and is usually
transmitted via an infected birth canal. Infection is more common in
preterm infants and presentation is anywhere up to 4 weeks of age with
localised herpetic lesions on the skin or eye, or with encephalitis or
disseminated disease. Mortality due to local disease is low but even with
treatment disseminated disease has a high mortality with considerable
morbidity if not fatal. Treatment is ideally caesarean and antiviral
treatment.


6. Understand that bilious vomiting in the newborn is pathological and list
some common causes

This is mostly discussed in the GI section and surgery section. Causes
include:
Intussusception
Obstruction
Volvulus
Malrotation
Tumours
Hirschprungs disease
Constipation/meconium ileus
Basically any disease that causes obstruction below the duodenum will
cause bilious vomiting.


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7. Have a basic understanding of the treatment of neonatal bacterial
infections

This is a bit vague so I will include the treatments in each section on
neonatal infection


8. Recognise that neonatal infection results in significant morbidity and
mortality especially in preterm infants

It does.


9. Understand what is meant by an infection screen in newborn infants

I assume the objective here is referring to a sepsis screen in infants
where sepsis is being considered. If so then this should at least include:
FBC
U&Es with glucose
Blood culture
Chest radiograph
Lumbar puncture
Urine culture and dip
CRP
CT or MRI (if suspected meningitis)

The symptoms of sepsis are often non-specific so it is important to look
out for fever, poor feeding, vomiting, apnoea, bradycardia, respiratory
distress, abdominal distension, jaundice, neutropenia,
hypo/hyperglycaemia, shock, irritability, seizures, lethargy, drowsiness
etc


10. Interpret common investigations used for newborn infection, i.e. chest
x-rays, lumbar puncture, CRP

Self explanatory. CRP should be less than 5


IUGR

1. Define intrauterine growth retardation (IUGR) and how this differs from
small for gestational age (SGA)

Small for gestation age means a child that is smaller in size than normal
for the babys sex and gestational age. This is most commonly defined as
being below the 10
th
centile. The majority of these infants are normal but
Page | 230

small. The incidence of congenital abnormalities and neonatal problems is
higher in those whose birth weight falls below the second centile. These
children are generally genetically programmed to be this small but this
category does also include children who have failed to meet their genetic
size, i.e. children with IUGR.

In comparison to above, IUGR is where infants have been asymmetrically
growth restricted so are less than their genetically predetermined size.
The weight and abdominal circumference will lie on a lower centile than
that of the head due to the brains development taking priority over other
structures (at the expense of liver glycogen and skin fat stores). This
form of growth restriction is associated with utero-placental dysfunction
secondary to maternal pre-eclampsia, multiple pregnancy, maternal
smoking or may be idiopathic.


2. List the common causes of IUGR

To elaborate on the causes above, other identified factors can be broken
down into maternal factors:
Increased maternal age
Hypertension or heart disease
Diabetes
Alcohol abuse
Use of drugs including cannabis
Maternal smoking (30-40% of cases)
Renal disease
Coeliac disease (untreated)
Thrombophilia
Drugs include warfarin, steroids and phenytoin

Placental causes:
A small placenta that cannot supply the needed nutrients
Cell death of the placenta
Pre-eclampsia

Fetal causes:
Multiple pregnancy (15-20% of twins)
Chromosomal abnormalities i.e. Down syndrome, Edwards
syndrome, Turner syndrome or Pataus syndrome
Congenital defects associated with SGA
Intrauterine infection i.e. CMV, toxoplasmosis, rubella or syphilis


3. Understand the short and long term complications of IUGR

Page | 231

When a small fetus is diagnosed the risk of a chromosomal defect needs
to be assessed and can be as high as 19%. The risk is higher when
restricted growth is associated with structural abnormalities. To manage
this there should be a detailed ultrasound examination, assessment of risk
of delivery vs. pregnancy and assessment of placental insufficiency with
Doppler.

There is a question of when to deliver but there is no evidence that early
delivery to pre-empt severe hypoxia and acidosis reduces any adverse
outcome. When end diastolic blood flow is present in the umbilical artery
then delay delivery until 37 weeks. If flow is absent or reversed close
observation along with steroids are needed.

Babies who have been starved in utero tend to be hungry and feed
enthusiastically to gain weight and as an adult then can be expect to grow
to a normal or slightly smaller than average stature. If there was slow
head growth before 26 weeks then they may show significant
developmental delays at 4 years. An extremely low birth weight confers a
high risk of perinatal mortality and neonatal morbidity. Studies have
shown an infant less than 2.5kg birth weight have a three times increased
risk of coronary artery disease later in life. There is also an increased risk
of hypertension, type 2 DM and autoimmune thyroid disease.


Neonatal Respiratory Distress

1. Know the presenting features, risk factors and outline treatment for
common causes of neonatal respiratory distress, i.e. transient tachypnoea
of the newborn, respiratory distress syndrome, congenital pneumonia,
congenital abnormalities (e.g. heart disease, diaphragmatic hernia),
septicaemia and meconium aspiration

Signs of respiratory distress include:
Tachypnoea >60 breaths/min
Laboured breathing, with chest wall recession and nasal flaring
Expiratory grunting
Cyanosis if severe

Transient tachypnoea of the newborn

This is by far the commonest cause of respiratory distress in term infants.
It is caused by delay in the reabsorption of lung fluid and is more
common after birth by caesarean section. The chest x-ray may show fluid
in the horizontal fissure. Additional ambient oxygen may be required. The
condition usually settles within the first day of life but can take several
days to resolve completely. This is a diagnosis made after consideration
and exclusion of other causes.
Page | 232


Respiratory distress syndrome

This is much more common in immaturity (<28 weeks gestation) and is
caused by a deficiency in surfactant and an immature respiratory centre
in the brain. Surfactant is produced by type 2 alveolar cells and lowers
the surface tension of the alveolar air sacs. In term infants it may have a
genetic cause or occur in infant born to diabetic mothers. It is also seen in
meconium aspiration.

Treatment is with antenatal steroids in 2 doses within 48 hours before
delivery when the labour is under 34 weeks gestation. This leads to lung
maturation and surfactant production. The second therapy is artificial
surfactant that can reduce deaths by over 40%.

Infants with RDS develop signs of respiratory distress within 4 hours
postpartum. It is characterised by grunting which is breathing out against
a closed epiglottis in order to maintain positive pressure in the airways.

Congenital pneumonia

Prolonged rupture of the membranes, chorioamnionitis and low birth
weight predispose to pneumonia. Infants with respiratory distress will
usually require investigation to identify infection. Broad spectrum
antibiotics are started early until the infection screen comes back.

Heart disease

There are many lesions of the heart that can lead to respiratory distress
and these are mentioned in the cardiac section. RD is usually caused by
the more severe lesions such as HPLH syndrome but can be due to any
cause.

Diaphragmatic hernia

Covered in its own objective a herniation of abdominal contents usually
through the left side leading to hypoplasia of one or both lungs.

Septicaemia

Any severe infection will lead to a child have respiratory distress. This is
mostly caused by group B strep and is mentioned above.

Meconium aspiration

Meconium is passed before birth by 8-20% of babies. It is rarely passed
by preterm infants and occurs increasingly with a greater gestational age,
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affecting 20-25% of deliveries by 42 weeks. It may be passed in response
to fetal hypoxia and at birth these infants may inhale thick meconium.
Asphyxiated infants may start gasping and aspirate meconium before
delivery. Meconium is a lung irritant and result in both mechanical
obstruction and chemical pneumonitis (destroys surfactant), as well as
predisposing to infection. The lungs become over inflated, accompanied
by patches of collapse and consolidation and there is a high incidence of
air leak leading to pneumothorax and pneumomediastinum. Artificial
ventilation is often required but infants may develop persistent pulmonary
hypertension of the newborn which makes it difficult to achieve adequate
oxygenation despite high pressure ventilation. Severe meconium
aspiration is associated with significant morbidity and mortality.


Prematurity

1. List the common problems associated with prematurity and have a
general understanding of their presentation and management, include:
respiratory distress syndrome, necrotising enterocolitis, infection,
hypoglycaemia, temperature control, apnoea of prematurity, retinopathy
of prematurity and intraventricular haemorrhage (IVH).

Respiratory distress syndrome

Mentioned above

Necrotising enterocolitis

This was mentioned in the gastro section. It is a serious illness mainly
affecting preterm infants in the first few weeks of life. It is associated with
bacterial invasion of the ischaemic bowel wall. Preterm infants fed cows
milk formula are more likely to develop this condition than if they are fed
only breast milk. The infant stops tolerating feeds, milk is aspirated from
the stomach and there may be vomiting which may be bile stained. The
abdomen becomes distended and the stool sometimes contains fresh
blood. The infant may rapidly become shocked and require artificial
ventilation because of distension and pain. The disease can be seen on x-
ray and may rapidly progress to bowel perforation. Treatment is to stop
oral feeding and give broad spectrum antibiotics. Parenteral nutrition is
always needed and artificial ventilation and circulatory support are often
needed. Surgery is performed for bowel perforations. There is a 20%
mortality rate.

Infection

Mentioned previously but is due to a lack of IgG as it is not transferred
until the last trimester.
Page | 234


Hypoglycaemia

This is particularly likely in the first 24 hours of life in babies with IUGR,
who are preterm, born to mothers with diabetes, are large for date,
hypothermic, polycythaemic or ill for any reason. Growth restricted and
pre-term infants have poor glycogen stores whereas the infants of a
diabetic mother have sufficient glycogen stores but hyperplasia of the
islet cells causing high insulin levels. Symptoms include jitteriness,
irritability, apnoea, lethargy, drowsiness and seizures.

Many babies can tolerate low glucose levels due to the use of lactate and
ketones but a level above 2.6mmol/L is desirable for good
neurodevelopment, although many babies have levels transiently below
this in the first 24 hours. Hypoglycaemia can be prevented by early and
frequent feeding with breast milk and regular monitoring if at risk. If an
asymptomatic infant has two levels below 2.6 or one below 1.6 then IV
infusion is given. Abnormal results should be confirmed in the laboratory
and high IV concentrations should be given centrally to avoid peripheral
skin necrosis. Glucagon and hydrocortisone may also be given.

Temperature control

Hypothermia causes increased energy consumption and may result in
hypoxia and hypoglycaemia, failure to gain weight and increased
mortality. Preterm infants are particularly vulnerable as:
They have large surface area relative to volume
Their skin in thin and more heat permeable
They have little subcutaneous fat
They are often nursed naked and cannot conserve heat by curling
up or shivering
There is a neutral temperature range in which an infants energy
consumption is at a minimal level and this is high in premature babies.
This temperature can be maintained by using an incubator.

Apnoea of prematurity

Episodes of apnoea and bradycardia and desaturation are common in very
low birth weight infants until they reach about 32 weeks gestational age.
Bradycardia may occur either when an infant stops breathing for over 20-
30 seconds or when breathing continues but against a closed glottis. An
underlying cause (hypoxia, infection, anaemia, electrolyte disturbance,
hypoglycaemia, seizures, heart failure or aspiration) needs to be excluded
but in many causes it is due to central respiratory control. Breathing will
usually start again after gentle physical stimulation and treatment is with
caffeine and potentially CPAP.

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Retinopathy of prematurity

This affects developing blood vessels at the junction of the vascular and
non-vascularising retina. There is vascular proliferation which may
progress to retinal detachment, fibrosis and blindness. It was initially
recognised that the risk is increased by uncontrolled use of high
concentration oxygen. This occurs in around 35% of very low birth weight
infants and laser therapy is used to reduce visual impairment. An
ophthalmologist will screen the childs eyes every week. Severe bilateral
visual impairment occurs in about 1% of very low birth weight infants.

Intraventricular haemorrhage (IVH)

This is common in very underweight children (60-70% if 500-750g) and
presents in the first few days of life with apnoea, lethargy, poor muscle
tone and sleepiness. This may progress to a coma and there may also be
increased ICP with a bulging fontanelle. Management is supportive with
correction of acidosis, anaemia and hypotension. Fluid treatment may be
needed along with medicine to decrease ICP. The definitive treatment is a
ventriculoperitoneal shunt.


2. Understand the principles and methods of delivering good nutrition to
the premature newborn

Preterm infants have a high nutritional requirement because of their rapid
growth. Preterm infants at 28 weeks gestation double their weight in 6
weeks and treble it in 12 weeks, whereas term babies only double it in
4.5 months and treble it in 1 year.

Infants of 35-36 weeks are mature enough to such and swallow milk but
less mature infants need NG tube feeding. Even in very preterm infants
enteral feeds are introduced quickly and should be supplemented with
phosphate, protein and calories. In very immature or sick infants
parenteral nutrition is often required and this is usually given through a
central venous catheter inserted peripherally. However these lines carry a
significant risk of infection so should be used cautiously. Poor bone
mineralisation was previously common but is prevented by provision of
adequate phosphate, calcium and vitamin D, Because iron is mostly
transferred in the last trimester, preterm babies have low iron stores so
require supplementation at several weeks of age and after discharge. Also
remember that breast milk is best if available as it provide antibodies to
the child that they may have not received if preterm.


3. Understand the importance of breast milk to the premature infant

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Advantages to the infant
Provides ideal nutrition for infants during the first 4-6 months of life
Is life saving in developing countries
Reduces the risk of GI infection and, in preterm infants, of
necrotising enterocolitis
Enhances the mother-child relationship
Reduces the risk of diabetes, hypertension and obesity in later life
More easily digested than other sources


4. Briefly discuss the impact of prematurity on lung development and the
risk of chronic lung disease and other respiratory morbidity

Respiratory distress syndrome is mentioned above and is the major
problem associated with the respiratory system and prematurity. This
condition leads to the need for ventilation and oxygen support in many
cases. If on these therapies long term then Bronchopulmonary dysplasia
(chronic lung disease) will develop.

Bronchopulmonary Dysplasia

This describes infants who have an oxygen requirement at post menstrual
age of 36 weeks. The lung damage comes from pressure and volume
trauma from artificial ventilation, oxygen toxicity and infection. The chest
x-ray is characteristic and shows widespread areas of opacification,
sometimes with cystic changes. Some infants need prolonged ventilation
but most are weaned onto CPAP followed by additional ambient oxygen,
sometimes over months. Corticosteroid therapy may aid early weaning.

Pneumothorax

In RDS air from the over distended alveoli may track into the interstitum
resulting in pulmonary interstitial emphysema. In up to 10% of infants
ventilated for RDA, air leaks into the pleural cavity and causes a
pneumothorax. When this occurs the infants oxygen requirements usually
increase and the breath sounds and chest movement on the affected side
will reduce. To avoid this infants are ventilated at the lowest pressure to
achieve good oxygenation. Treatment of a pneumothorax involves chest
x-ray and insertion of a chest drain.


5. Outline the neurodevelopmental complications of prematurity

Along with the complications of blindness and deafness mentioned above,
there are also several other problems associated with prematurity. The
first is cerebral palsy due to a preterm brain injury, intraventricular
haemorrhage and raised ICP. At school age up to 50% of children born at
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under 28 weeks need additional educational support. Learning difficulties
are often associated with the deafness or blindness but can be a separate
condition.


The Normal Newborn

1. Understand the respiratory and cardiovascular changes that occur
during the transition from fetus to newborn

Circulatory changes at birth

In the fetus the left atrial pressure is low as relatively little blood returns
from the lungs. The pressure in the right atrium is higher than in the left
as it receives all the systemic venous return including blood from the
placenta. The flap valve of the foramen ovale is held open and blood flows
across the atrial septum into the left atrium and then into the left
ventricle which in turn pumps it to the upper body.

With the first breaths the resistance to pulmonary blood flow falls and the
volume of blood flowing through the lungs increases six-fold. This results
in a rise in the left atrial pressure. Meanwhile the volume of blood
returning to the right atrium falls as the placenta is excluded from the
circulation. The change in the pressure difference causes the flap valve of
the foramen ovale to close. The ductus arteriosus, which connects the
pulmonary artery to the aorta in fetal life, will normally close within the
first few hours or days. Some babies with congenital heart lesions rely on
this circulation and may become very ill when it begins to close.

Respiratory changes

Lung liquid is reabsorbed chest compression during birth squeezes out a
third and the release of adrenaline promotes reabsorption of the rest.
Surfactant is released, triggered by adrenaline and steroids, and synthesis
is also begun. A fall in the capillary pressure of the lungs occurs with
expansion of the alveoli and the vasodilatory effect of oxygen. Respiratory
movements of the chest commence.


2. Know the important time frames for the newborn to: pass urine, open
bowels and regain birth weight

Bowels usually within 6 hours or before birth but up to 24 hours
Bladder up to 24 hours
Weight newborns lose around 7-10% of their weight but should regain it
in about 2 weeks

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3. Understand the importance of maternal bonding and breast feeding

This is very important in terms of attachment and psychological
development. It also helps the mother deal with post natal blues. The
benefits of breast feeding have already been mentioned. Often babies are
now nursed by kangaroo care. Immediately after birth the baby is cleaned
and then put on the mothers abdomen and covered in a towel. The baby,
over 60 minutes, will move up the abdomen and begin to suckle
effectively. This promotes strong bonding.


4. Understand the importance of vitamin K prophylaxis

Vitamin K deficiency may result in haemorrhagic disease of the newborn.
This disorder can occur early, during the first week of life, or late, from 1
to 8 weeks of age. In most affected infants the haemorrhage is mild, such
as bruising, haematemesis and melaena, or prolonged bleeding of the
umbilical stump or after a circumcision. However, some suffer from
intracranial haemorrhage, half of whom are permanently disabled or die.

Breast milk is a poor source of vitamin K whereas infant formula milk has
a much higher vitamin K content. Haemorrhagic disease of the newborn
may occur in infants who are wholly breast fed but not if fed with an
instant formula. Infants of mothers taking anticonvulsants, which impair
the synthesis of vitamin K-dependent clotting factors, are at increased
risk of haemorrhagic disease, both during delivery and soon after birth.
Infants with liver disease are also at increased risk.

The disease can be prevented if vitamin K is given IM and in the UK it was
widely given to all newborns immediately after birth. After a scare about
the link of the IM injection to childhood cancer (no proof was found)
mother may request an oral vitamin K alternative. However three doses
of this are needed over 4 weeks as this route is less reliable. Mothers on
anticonvulsants need prophylaxis from 36 weeks and the baby needs the
IM vitamin K injection.


5. Outline the important screening methods used during infancy, namely
newborn examination, hearing screening, the Guthrie card and antenatal
screening for newborn disorders

Routine examination of the newborn infant

The purpose of this examination is to detect any congenital abnormalities
not already identified at birth, check for potential problems arising from
maternal disease or familial disorders, and to provide an opportunity for
the parents to discuss any questions about their baby.
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Routine examination should include:
Birth weight, gestational age and centile
General observation of posture and movement
The head circumference and centile
The fontanelle size is variable, the sagital suture is often
separated and the coronal sutures may be overriding. A tense
fontanelle when there is no crying may indicate increased ICP.
The face to look for any syndromes
If plethoric or pale check haematocrit for anaemia or
polycythaemia
Jaundice within 24 hours of birth requires further investigation
The eyes check for red reflex and if absent there may be
cataracts, a retinoblastoma or a corneal opacity. The reflex is not
present in infants with pigmented skin but vessels can be visualised
The palate visually and physically inspected for cleft palate
Breathing and chest wall movement
Auscultation of heart normal rate is 110-160bpm but can drop to
85bpm during sleep
Palpating the abdomen liver normally extends 1-2cm below costal
margin, the spleen tip may be palpable, as may the kidney on the
left side
Femoral pulses reduced is Coarctation of the aorta, increased is
patent ductus arteriosus
Genital and anus check for patency then check for presence of
testis in the scrotum in boys
Muscle tone
Back and spine
Hips check for developmental dysplasia of the hips (DHH). Leave
until last as is uncomfortable. This is explained later.

Biochemical screening (Guthrie test)

Biochemical screening is performed on every baby. A blood sample,
usually by heel prick, is taken when feeding has been established on day
5-9 of life. In the UK all infants are screened for:
Phenylketonuria
CF
Hypothyroidism
Haemoglobinopathies (sickle cell and thalassaemia)
MCAD (medium-chain acyl-CoA dehydrogenase) deficiency. A rare
inborn error of mitochondrial fatty acid metabolism causing acute
illness and hypoglycaemia following fasting, which may also present
as an ALTE.

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Screening for CF is performed by measuring the serum immunoreactive
trypsin which is raised if there is pancreatic duct obstruction. If raised
then DNA analysis is also performed to reduce the false-positive rate.

Newborn hearing screening

Universal screening has been introduced in the UK to detect severe
hearing impairment in newborn infants. Early detection and intervention
improves speech and language. This is done by evoked otoacoustic
emission (an earphone produces a sound which evokes an echo or
emission from the ear if cochlear function is normal) or automated
auditory brainstem response and analysis of the EEG (a computer analysis
of waveforms in response to auditory stimulation). The disadvantages of
EOAE are that there can be many false positives in the first 24 hours due
to amniotic fluid in the ear canal, and they test cochlear function rather
than hearing.

Distraction testing was the mainstay of hearing testing but has mostly
been replaced by universal screening. It is now used as a screening tool
for children who have not been fully assessed and can be performed at 7-
9 months. The test relies on a baby locating and turning appropriately
towards sound.

Visual reinforced audiometry is useful in the age range of 10 to 18
months, although it can be used between the ages of 6 months and 3
years. Hearing thresholds are established using visual rewards to
reinforce the childs head turn to stimuli of different frequencies.

Audiometry can be done in children who are able to understand and
cooperate with instructions, generally after 4 years.

Vision

A newborns vision is limited to about 6/200. The peripheral retina is well
developed but the fovea is immature and the optic nerve unmyelinated.
Well focused images on the retina are vital for the development of visual
acuity and any obstruction to form this, e.g. a cataract, will interfere with
optic pathway development. Many newborns can fix and follow
horizontally. By the age of 6 weeks both eyes should move together when
following a light source. By 12 weeks no squint should be present. Adult
levels of vision are reached by 3-4 years.

Antenatal screening

During pregnancy there will be a number of blood tests to check for
problems along with an ultrasound scan. Infection will be checked for
along with rhesus disease and pre-eclampsia. Ultrasound is generally
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used to show the babies measurements, the number of babies, an
abnormalities (particularly the head and spine), to show the position of
the baby and to check for normal development. However ultrasound can
be used to find a whole host of conditions including cleft lip, cardiac
problems, spinal bifida, bowel problems and Down syndrome.

Amniocentesis and chorionic villus sampling are available but are not
carried out routinely.


6. Understand the physiology, risk factors and treatment of jaundice
including prolonged jaundice especially in respect to early recognition of
biliary atresia

See the jaundice section for details on all of this.


7. Appreciate that babies are discharged early and severe jaundice may
present in the community setting

Again see the jaundice section. Jaundice can present immediately (more
serious) or after several days to weeks. This can be normal in most babies
but needs monitoring.


Common Newborn Problems

1. Be able to give an outline of common newborn conditions including:
dermatological conditions (erythema toxicum, Mongolian blue spots,
capillary haemangiomas), physiological jaundice, feeding difficulties, small
for gestational age, birth trauma (including cephalohaematoma and
brachial plexus injury) and the sticky eye

Erythema toxicum

Also called neonatal urticaria, this is a common rash appearing at 2-3
days of age and consisting of white pinpoint papules at the centre of an
erythematous base. This fluid contains eosinophils and the lesions are
concentrated on the trunk; they come and go at different sites.

Mongolian blue spots

These are blue or black macular discoloration at the base of the spine and
on the buttocks; occasionally they occur on the legs and other parts of
the body. Usually but not invariably in Afro-Caribbean or Asian infants.
They fade slowly over the first few years and are of no significance unless
misdiagnosed as bruising.
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Capillary haemangiomas

Pink macules on the upper eyelids, mid-forehead and nape of the neck
are common and arise from distension of the dermal capillaries. Those on
the eyelids gradually fade over the first year; those on the neck become
covered in hair.

Physiological jaundice

Mentioned in the jaundice section and is normal due to several factors
explained in the jaundice section.

Feeding difficulties

This could be due to a variety of reasons which include cleft palate or lip,
being premature and unable to suck/swallow, poor attachment to the
nipple due to poor technique, gastro-oesophageal reflux (described
above) etc.

Small for gestational age

This is discussed previously but can be normal due to genetics or from
IUGR.

Birth trauma (cephalohaematoma and brachial plexus injury)

A cephalohaematoma is a haematoma from bleeding below the
periosteum, confined within the margins of the skull sutures. It usually
involves the parietal bone. The centre of the haematoma feels soft and it
resolves over several weeks.

A brachial plexus injury usually results from traction of the brachial nerve
roots. This may occur in breech deliveries or with shoulder dystocia
(delivery shoulders first). Upper nerve roots C5 and C6 injury results in
Erb palsy (affected arm lies straight, limp and with the hand pronated and
the fingers flexed. Most resolve completely but should be referred if not
resolved by 2-3 months. Most recover by 2 years.

Sticky eye

A common condition affected neonates in the first 48 hours after birth.
There is yellow discharge from the corner of the eye and formation of a
crust. This is sometimes when the very small tear ducts become blocked
by fluid and debris during birth. Newborns struggle to produce tears in the
first few months so clearage of this blockage is hard for them. The eye
should be bathed frequently with sterile water to help clear it.
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ABO/Rhesus Incompatibility

1. Outline the basis of Rhesus and ABO incompatibility for the newborn,
the risks to the newborn and have an understanding of the management

ABO

This is now more common than rhesus haemolytic disease (probably due
to anti-D Ig). Most ABO antibodies are IgM and do not cross the placenta
but some group O women have an IgG anti-A-haemolysin in the blood
which can cross the placenta and haemolyse the red cells of a group A
infant. Occasionally a group B infant is affected by anti-B haemolysins.
Haemolysis can cause severe jaundice but is usually less severe than in
rhesus disease, hepatosplenomegaly is absent. The direct antibody test,
which demonstrates antibody on the surface of red cells, is positive. The
jaundice usually peaks in the first 12-72 hours.

Rhesus

Affected infants are usually indentified antenatally and monitored and
treated if necessary. The birth of a severely affected infant with anaemia,
hydrops and hepatosplenomegaly with rapidly developing severe jaundice
has now become rare. This condition occurs when a mother is rhesus-
negative and gives birth to a rhesus-positive child. This sensitises her to
rhesus antigens and the mother produces antibodies. If she gets pregnant
with a rhesus positive child again then the IgG antibodies will attack the
child. This can be avoided by anti-D Ig in pregnancy.

Management for both

Diagnosis is by blood tests, biochemistry for jaundice and an antibody
screen. Treatment is similar to that of rhesus incompatibility. Before birth
options include intrauterine transfusion or early induction of labour when
pulmonary maturity has been obtained. Mothers themselves may also
undergo plasma exchange to lower their circulating antibodies by 75%.
After birth treatment depends on the severity of the condition and may
simply involve treating the jaundice with phototherapy. However there
may be cause for transfusion with red cells and also bicarbonate to
correct an acidosis. Complications are to do with high bilirubin levels.


2. Understand the importance of severe jaundice in the immediate
newborn period, kernicterus and later neurodevelopmental problems

This is all covered in the jaundice section
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Congenital Abnormalities

1. List important risk factors for congenital abnormalities and the
importance of maternal health impacting on these

A large number of congenital abnormalities are due to genetic conditions
which cannot be controlled by health or by reducing other risk factors.
There are a huge number of risk factors for abnormalities so it is
impossible to list them all here. A few that are important include:
Maternal and paternal age
Infections (TORCH toxoplasmosis, others, rubella, CMV and HSV)
Toxins e.g. alcohol, smoking, mercury or prescription drugs
Dietary deficiencies e.g. folic acid


2. Be able to describe the common features of the more common
congenital conditions presenting in the newborn period including: Down
Syndrome (trisomy 21), CHARGE, VACTERAL

Down syndrome

This has been discussed in detail in its own section above.

CHARGE

This is a genetic syndrome that is an acronym to describe a set of unusual
congenital features seen in many newborn children. The letters stand for
Coloboma of the eye (a hole in one of the eyes structures e.g. the iris,
retina, choroid or optic disc), Heart defects, Atresia of the nasal choanae,
Retardation of growth and/or development, Genital and/or urinary
abnormalities and Ear abnormalities and deafness. This syndrome is the
leading cause of congenital deafblindness. It is also worth noting that very
few people will have 100% of these features and the prevalence is around
1 in 10,000.

VACTERL

This is a syndrome (or an association) of birth defects. It is thought to be
genetic and is associated with trisomy 18 or more frequently with diabetic
mothers. Again it is an acronym which stands for Vertebral defects
(hypoplastic vertebrae and scoliosis), Anal atresia, Cardiovascular
abnormalities (ASD, VSD and Tetralogy of fallot), Tracheoesophageal
fistula, Esophageal atresia, Renal anomalies (usually one umbilical vein
instead of two which causes problems outflow obstruction, reflux and
kidney failure) and Limb defects (hypoplastic thumbs, extra digits, fusion
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of digits etc). Most of these babies will have normal development and
intelligence but can be quite small. It has an incidence of 16 per 100,000
live births.


3. Be aware of other conditions including Patau syndrome (trisomy 13),
Edward Syndrome (trisomy 18), fetal alcohol syndrome, cleft lip and
palate, neural tube defects

Patau syndrome

This is a trisomy 13 chromosomal abnormality due to non-disjunction
during meiosis. This is the least common and most severe of the trisomies
and is much more likely to affect females. The incidence is around 1 in
20,000 and risk increases with affected close family or maternal age (not
as significant as with Down syndrome and Edwards syndrome). Many
foetuses never survive but those that do exhibit:
Low birth weight
IUGR
Congenital heart defects (ASD, VSD, PDA and dextrocardia)
Holoprosencephaly a structural defect in the brain which means it
does not separate into two halves an cause cleft lip/palate amongst
other things
Neural tube defects
Severe learning disability
Small eyes (microphthalmia)
Scalp defects
Gastrointestinal and urogenital malformations
Polydactyly

Prognosis is poor and median survival is 2.5 days with only 1 in 20
surviving longer than 6 months. Congenital heart disease and pneumonia
are the commonest causes of death

Edward syndrome

This is a trisomy 18 chromosomal abnormality and is a severe disorder
that affects all organs of the body. It is the second most common trisomy
after Down syndrome and has an incidence of 1 in 6000 births. Again it is
more common in females, mostly because males or more severely
affected and tend to miscarriage. Again risk factors include a family
history and increasing maternal age. 95% of foetuses with this condition
will die. Prenatally there may be:
Polyhydramnios
Oligohydramnios (deficiency of amniotic fluid, opposite to above)
Small placenta
Single umbilical artery
Page | 246

Fetal distress
IUGR
Weak fetal activity

After birth the following may be noticed:
Low birth weight
Craniofacial abnormalities low set and malformed ears,
micrognathia, prominent occiput, small facial features, coloboma of
the iris and cleft lip and/or palate
Skeleton abnormalities flexed overlapping fingers, prominent
calcaneus, hypoplastic nails
Congenital heart defects ASD, VSD, PDA and Coarctation of the
aorta
GI abnormalities Tracheoesophageal fistula, pyloric stenosis,
imperforate anus, inguinal hernia
Urogenital abnormalities hydronephrosis, cystic kidneys,
cryptorchidism
Neurological problems hydrocephaly, severe learning disabilities
Pulmonary hypoplasia

Prognosis is again poor with a mean life expectancy of just 4 days with 5-
10% surviving beyond one year.

Fetal alcohol syndrome

Previously discussed in the genetics section

Cleft lip and palate

Previous discussed in the surgery section

Neural tube defects

Neural tube defects result from the failure of normal fusion of the neural
plate to form the neural tube during the first 28 days following
conception. Their birth prevalence has fallen dramatically to 0.1 per 1000
live births and is a combination of natural decline as well as antenatal
screening. The reason for natural decline is thought to be due to better
nutrition along with folic acid supplementation during pregnancy. Neural
tube defects can be divided into several groupings:
Anencephaly Failure of development of most of the cranium and
brain. Affected infants are stillborn or die shortly after birth. It is
detected on antenatal ultrasound screening and termination of
pregnancy is usually performed
Encephalocele there is extrusion of the brain and meninges
through a midline skull defect, which can be corrected surgically.
Page | 247

However, there are often underlying associated cerebral
malformations.
Spinal bifida occulta this failure of fusion of the vertebral arch is
often an incidental finding on x-ray but there may be an associated
overlying skin lesion such as a tuft of hair, lipoma, birth mark or
small dermal sinus, usually in the lumbar region. There may be
underlying tethering of the cord which, with growth, may cause
neurological deficits of bladder function and lower limbs. The extent
of the underlying disease can be delineated using ultrasound and/or
MRI scans. Neurosurgical relief of tethering is usually indicated.
Meningocele the skin and meninges form an out-pouching,
present with spinal bifida, although the cord fortunately remains in
the meninges and vertebral canal so there are fewer problems
Myelomeningocele there is a communication between the surface
and the meninges, along with some neural tissue (a neural plaque).
It is associated with many complications such as paralysis, sensory
loss, muscle imbalance, neuropathic bladder and bowel, scoliosis
and hydrocephalus.

The most severely affected children have lesions above L3, are unable to
walk, have scoliosis, neuropathic bladder and bowel, hydronephrosis and
frequently develop hydrocephalus.


4. Describe the common features of surgical congenital anomalies
including gastroschisis, exomphalos and bowel atresia

These have all been mentioned in the surgery section


Haemolytic Disease of the Newborn

1. Outline the common cause of haemolytic disease of the newborn

This is mentioned in the rhesus/ABO section.


Hepatitis B Infection

1. Outline the risk to the newborn of maternal hepatitis B infection and
the preventative measures to avoid newborn transmission

This is covered in the viral hepatitis section


Hypoxic Ischaemic Encephalopathy (HIE)

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1. Understand the risk factors for HIE, the key clinical features and
management in terms of therapeutic hypothermia

In perinatal asphyxia, gas exchange, either placental or pulmonary, is
compromised or ceases altogether resulting in cardiorespiratory
depression. Hypoxia, hypercarbia and metabolic acidosis follow.
Compromised cardiac output diminishes tissue perfusion causing hypoxic-
ischaemic injury to the brain and other organs. In developed countries
HIE has a prevalence of about 0.5-1 per 1000 live births. Most incidents
follow a significant hypoxic event immediately before or during labour or
delivery. These include:
Failure of gas exchange across the placenta
Interruption of umbilical blood flow cord compression or shoulder
dystocia
Inadequate maternal placental perfusion, maternal hypotension or
hypertension
Compromised fetus IUGR or anaemia
Failure of cardiorespiratory adaptation at birth failure to breathe

The clinical manifestations start immediately or within 48 hours of
asphyxia. They can be graded as:
Mild irritable, responds excessively to stimulation, may have
staring eyes and hyperventilation and has impaired feeding
Moderate the infant shows marked abnormalities of tone and
movement, cannot feed and may have seizures
Severe there are no normal spontaneous movements or response
to pain; tone in the limbs may fluctuate between Hypotonia and
hypertonia; seizures are prolonged and often refractory to
treatment; multi organ failure is present.
The neuronal damage may be immediate or delayed due to reperfusion
and hence hypothermia may be neuroprotective here.

Management includes respiratory support, an EEG, seizure treatment,
fluid restriction, treatment of hypotension and monitoring of
hypoglycaemia, electrolyte imbalance and effectiveness of treatment.
Trials have show cooling the child down to 33/34 degrees reduces brain
damage if done within 6 hours.


2. Appreciate the long term neurodevelopment risks of HIE

Prognosis when mild is excellent and a complete recovery can be
expected. Infants with moderate HIE who have recovered fully on clinical
neurological examination and are feeding normally by 2 weeks of age
have an excellent long-term prognosis but if clinical abnormalities persist
beyond this time then recovery is unlikely. Severe HIE has a mortality of
Page | 249

30-40% and 80% of survivors have neurodevelopmental disabilities,
mainly cerebral palsy.


Ambiguous Genitalia

1. Have an awareness of the features of ambiguous genitalia and the
management

With a male appearance and abnormalities of genitalia there may be
severe hypospadias with bifid scrotum, undescended testis/testes with
hypospadias or bilateral non-palpable testes in a full term apparently
male infant. In an apparently female infant there may be clitoral
hypertrophy of any degree, non-palpable gonads and a vulva with a single
opening. A baby with an undetermined sex will simply have ambiguous
genitalia.

Most of this topic will be discussed in the next objective, including the
management.


2. Be aware of endocrine and metabolic disorders that can present in the
newborn period including congenital adrenal hyperplasia and inborn errors
of metabolism

The fetal gonad is initially bipotential. In the male a testis determining
gene on the Y chromosome (SRY) is responsible for the differentiation of
the gonad into a testis. The production of testosterone and its metabolite
dihydrotestosterone results in the development of male genitalia. In the
absence of SRY the gonads becomes ovaries and he genitalia female.
Rarely newborn infants may be born with a disorder of sexual
differentiation and there may be uncertainty about the infants sex. A
disorder of sexual differentiation may be secondary to:
Excessive androgens producing virilisation in a female the
commonest cause of which is congenital adrenal hyperplasia
Inadequate androgen actions producing under virilisation in males.
This can result from an inability to respond to androgens or to
convert testosterone to dihydrotestosterone or abnormalities of the
synthesis of androgens from cholesterol
Gonadotrophin insufficiency, also seen in several syndromes such
as Prader-Willi syndrome and congenital hypopituitarism which
results in a small penis and cryptorchidism
Ovotesticular disorder of sex development (DSD) is caused by both
XX and Y containing cells being present in the fetus leading to both
testicular and ovarian tissue being present and a complex external
phenotype; this is rare

Page | 250

Management is very difficult as the parents and friends will want to know
the sex of the baby but it is vital to not assign a gender to the baby until
tests are done. A discussion is needed with the parents and birth
registration must be delayed. It can be very difficult to decide on what
sex to rear the child as but female is often chosen as it is easier to
surgically construct the genitalia. There has been a move towards
delaying definitive surgery to let the child decide but this obviously has its
psychological difficulties.

Congenital adrenal hyperplasia

A number of autosomal recessive disorders of adrenal steroid biosynthesis
result in congenital adrenal hyperplasia. Its incidence is about 1 in 5000
births and it is commoner in the offspring of consanguineous marriages.
Over 90% have a deficiency of the enzyme 21hydroxylase, which is
needed for cortisol biosynthesis. About 80% are unable to produce
aldosterone, leading to salt loss (low sodium, high potassium). In the
fetus the resulting cortisol deficiency stimulates the pituitary to produce
adrenocorticotrophic hormones (ACTH) which drives overproduction of
adrenal androgens. This presents as:
Virilisation of the external genitalia in female infants, with clitoral
hypertrophy and variable fusion of the labia
In the infant male the penis may be enlarged and the scrotum
pigmented but these changes are seldom identified
A salt-losing adrenal crisis in the 80% of males who are salt losers
will occur at 1-3 weeks of age and present with vomiting, weight
loss, floppiness and circulatory collapse
Tall stature in the 20% of male non-salt losers; both male and
female non-salt losers also develop a muscular build, adult body
odour, pubic hair and acne from excess androgen production,
leading to precocious pubarche (early puberty)

There may be a family history of neonatal death if a salt losing crisis has
not been recognised and treated.

Diagnosis is made by finding markedly raised levels of the metabolic
precursor 17 alpha-hydroxyprogesterone in the blood. In salt losers the
abnormalities are low sodium, high potassium, metabolic acidosis and
hypoglycaemia.

Management includes a number of strategies. Firstly there may be the
need for corrective surgery in females but they have the structures to be
able to have children. In a salt losing crisis, saline, dextrose and
hydrocortisone are needed IV. The long term management of both sexes
is:
Lifelong glucocorticoids to suppress ACTH levels and to allow normal
growth and maturation
Page | 251

Mineralocorticoids if there is salt loss
Monitoring growth, skeletal maturity and plasma androgens.
Insufficient hormone replacement will lead to increased ACTH, rapid
initial growth and stunted end height.
Hormones are needed for illness or surgery as the patient cannot
mount a cortisol response.


Potters Syndrome

1. Briefly outline the impact of renal abnormalities on the developing fetus
and newborn

Potters syndrome describes the typical physical appearance caused by
pressure in utero due to oligohydramnios, classically due to bilateral renal
agenesis, but can be due to other conditions such as polycystic kidney
disease, renal hypoplasia and obstructive uropathy. Kidneys develop
between weeks 5 and 7 with ongoing urine production from about week
14. Amniotic fluid is a dynamic product and fetal urine is a major
contributor to its production from the second trimester. Fetal swallowing
recycles amniotic fluid. Any disease that impairs urine production causes
oligohydramnios whilst disease that impairs fetal swallowing, such as
oesophageal atresia and anencephaly, cause polyhydramnios. Amniotic
fluid is critical to pulmonary development and without it the consequences
are pulmonary hypoplasia and respiratory distress at birth. Infants with
Potters syndrome have characteristic faces:
Flattened parrot-beaked nose
Recessed chin
Prominent epicanthal folds
Low-set, cartilage-deficient ears

There are also many cardiac, ophthalmic, neurological and MSK
deformities associated with this that I wont go in to.


2. Understand the impact of the fetal environment its development in
respect of hip and food abnormalities

I dont really understand what is being asked here?


Nephrology and Genitourinary

Henoch Schonlein Purpura

1. Outline the aetiology, clinical features and management

Page | 252

HSP is the combinations of a characteristic skin rash, arthralgia,
periarticular oedema, abdominal pain and glomerulonephritis. It usually
occurs between the ages of 3 and 10 and is twice as common in boys. It
peaks during the winter months and is often preceded by an upper
respiratory infection. The cause is still unknown but it is thought to be due
to antigen exposure causing increased circulating IgA and disrupting IgG
synthesis. The IgA and IgG then react to form complexes, active
complement and become deposited in affected organs, precipitating an
inflammatory response with vasculitis.

At presentation affected children often have a fever. The rash is the most
obvious feature and is symmetrical, distributed over the buttocks, the
extensor surfaces of the arms and legs, and the ankles. The trunk is
spared unless lesions are induced by trauma. The rash may initially be
urticarial, rapidly becoming maculopapular and purpuric, is
characteristically palpable and may recur over several weeks. The rash is
the first clinical feature in about 50% and is the cornerstone of diagnosis.

Joint pain occurs in two thirds of patients, particularly the knees and
ankles. There is periarticular oedema but long term joint damage does not
occur and symptoms will resolve before the rash goes. Colicky abdominal
pain occurs in many children and, if severe, can be treated with steroids.
GI petechiae can cause haematemesis and melaena. Intussusception can
occur and can be particularly difficult to diagnose under these
circumstances. Ileus, protein losing enteropathy, orchitis and occasionally
CNS involvement are rare complications.

Renal involvement is common but rarely the first symptom. Over 80%
have microscopic or macroscopic haematuria or mild proteinuria. These
children usually make a complete recovery.

Management

Investigations include urinalysis, FBC, ESR, creatinine, serum IgA,
autoantibody screen, abdominal ultrasound (for obstruction), barium
enema (confirm obstruction), testicular ultrasound (check for torsion) and
renal biopsy (if persistent nephrotic syndrome).

HSP is usually self limiting and no form of therapy has been show to
appreciably shorten the duration of disease or prevent complications.
Most patients receive primarily supportive treatment. NSAIDS may help
joint pain but should be used with caution in renal insufficiency. With
nephropathy a variety of drugs can be used which includes steroids.


2. Be aware of the long term complications of HSP

Page | 253

If proteinuria is more severe then nephrotic syndrome may result. Risk
factors for progressive renal disease are heavy proteinuria, oedema,
hypertension and deteriorating renal function, when a renal biopsy will
determine if treatment is necessary. All children with renal involvement
will be followed for a year to detect those with persisting urinary
abnormalities (5-10%), who require long term follow up. This is necessary
as hypertension and declining renal function may develop after an interval
of several years.


3. Outline the management plan of patients the HSP including follow-up
for detection of HSP nephritis

The management has been described above along with long term follow
up for severe renal involvement. Less than 1% of patients with HSP
progress to end stage renal failure but prognosis is worse in older
children. If urinalysis is normal then follow up for six months.


Nephrotic Syndrome

1. Know the aetiology, incidence and presenting features of childhood
nephrotic syndrome

Nephrotic syndrome features heavy proteinuria resulting in low plasma
albumin and oedema. The cause is unknown but a few cases are
secondary to systemic diseases such as HSP and other vasculitides e.g.
SLE, malaria or allergens (bee stings). The clinical signs of nephrotic
syndrome are:
Periorbital oedema (particularly on waking) which is the earliest
sign
Scrotal or vulval, leg and ankle oedema
Ascites
Breathlessness due to pleural effusions and abdominal distension.

This condition affects about 16 per 100,000 per year. There are three
main categories that this condition can be broken up into. The first is
steroid-sensitive nephrotic syndrome (also called minimal change disease)
and is the most common.

Steroid-sensitive nephrotic syndrome

In 85-90% of children with nephrotic syndrome, the proteinuria resolves
with corticosteroid therapy. These children do not progress to renal
failure. It is commoner in boys than girls and in Asian children than
Caucasians. It is often precipitated by an URTI and features suggestive of
this are:
Page | 254

Aged between 1 and 10
No macroscopic haematuria
Normal blood pressure
Normal complement levels
Normal renal function

Investigations should include urine protein dipstick, FBC, ESR, U&Es,
creatinine, albumin, complement, ASO titre/anti-DNAse B titre, throat
swab, urine culture, urinary sodium concentration, hepatitis B/C screen
and malaria screen if travel abroad.

Management here is to give oral corticosteroids unless there are atypical
features. After 4 weeks the dose is reduced from 60mg/m
2
per day to
40mg/m
2
on alternate days. The median time for urine to become free of
protein is 11 days. Children who do not respond to a 4-8 week course of
steroid therapy, or have atypical features, may have a more complex
diagnosis and require a renal biopsy. The child with nephrotic syndrome is
susceptible to several serious complications at presentation or relapse:
Hypovolaemia during the initial phase of oedema the intravascular
compartment may become depleted and the child will complain of
abdominal pain and feel faint. There is peripheral vasoconstriction
and urinary sodium retention. A low urinary sodium and high
volume of packed red cells indicates the need for urgent treatment
with IV albumin.
Thrombosis a hypercoagulable state occurs due to urinary loss of
antithrombin, thrombocytosis (which may be exacerbated by steroid
therapy), increased synthesis of clotting factors and a raised blood
viscosity due to higher haematocrit. This can affect the brain, limbs
and splanchnic circulation.
Infection a child in relapse is at risk of infection from
pneumococcus and spontaneous peritonitis may occur.
Hypercholesterolemia correlates inversely with serum albumin but
the cause is not understood.

Prognosis 1/3 resolves, 1/3 infrequently relapses and 1/3 frequently
relapses.

Steroid-resistant nephrotic syndrome

These children should be referred to a paediatric nephrologist.
Management of the oedema is by diuretic therapy, salt restriction, ACE
inhibitors and sometimes NSAIDs which may reduce proteinuria.

Congenital nephrotic syndrome

This presents in the first 3 months of life but is rare. The commonest kind
is recessively inherited and is particularly common in Finns. In the UK the
Page | 255

commonest cause is consanguineous families. It is associated with a high
mortality, usually due to complications of hypoalbuminaemia rather than
renal failure. This can be so severe that unilateral nephrectomy may be
necessary for control, followed by dialysis for renal failure which is done
until a renal transplant is viable.


2. Name the most common types in childhood (i.e. minimal change
disease)

See objective 1.


3. Outline the initial management of children who present with nephrotic
syndrome

See objective 1.


4. Be aware of the atypical features which would prompt consideration of
second line treatment and/or a renal biopsy

Atypical features include:
<1 year old or >10 years old
Hypertensive
Elevated creatinine
Macroscopic haematuria
Failed to respond to steroids after 4-8 weeks


Urinary Tract Infection

1. Know the incidence and common organisms which cause childhood UTI

About 3-7% of girls and 1-2% of boys have at least one symptomatic
urinary tract infection before the age of 6 years, and 12-30% of them
have recurrence within a year. A UTI may involve the kidneys
(pyelonephritis) when it is usually associated with fever and systemic
involvement, or may be due to cystitis when there may be no fever. UTIs
are important in childhood as half the patients will have a structural
abnormality of their urinary tract and pyelonephritis can seriously damage
a developing kidney.

UTIs usually result from the bowel flora entering the urinary tract via the
urethra, except in the newborn when it is more likely to be
haematogenous. The commonest organism is E.coli followed by Klebsiella,
Proteus and Pseudomonas and Strep. faecalis. Proteus infection is more
Page | 256

commonly diagnosed in boys due to it being found under the prepuce.
Pseudomonas infection may indicate the presence of some structural
abnormalities in the urinary tract affecting drainage.


2. Reach a differential diagnosis for children presenting with haematuria

Urine that is red in colour or tests positive for haemoglobin on urine sticks
should be examined under the microscope to confirm haematuria. Urinary
tract infection is the most common cause of haematuria although seldom
as the only symptom. The history and examination may suggest the
diagnosis e.g. nephritis or stone formation.

Causes of haematuria are extensive and include those that are non-
glomerular:
infection
trauma
stones
tumours
sickle cell disease
bleeding disorders
renal vein thrombosis
hypercalciuria
And those that are glomerular: acute/chronic glomerulonephritis, IgA
nephropathy, familial nephritis and thin basement membrane disease.
Some of these will now be discussed.

Acute nephritis is a differential and may be due to HSP/SLE or similar
vasculitis, post infection with streptococcus, IgA nephropathy or with
anti-glomerular basement membrane disease (Goodpasture syndrome). It
is where increased glomerular cellularity restricts glomerular flow and
therefore filtration is decreased. This leads to decreased urine output and
volume overload, hypertension, oedema (periorbital), haematuria and
proteinuria.

Post-streptococcal and post-infectious nephritis usually follows a
streptococcal sore throat or skin infection and is diagnosed by evidence of
recent infection by raised ASO titre or anti-DNAse B titres and low
compliment C3 levels that return to normal after 3-4 weeks. This is a
common condition.

HSP has been described previously and can cause haematuria.

IgA nephropathy is associated with URTIs and presents with macroscopic
haematuria.

Page | 257

Vasculitis can be a cause if it involves the kidney and the commonest
form of this is HSP. However renal involvement can occur with rarer forms
e.g. Wegener granulomatosis. Symptoms include malaise, fever, weight
loss, skin rash and arthropathy.

SLE presents mainly in adolescent girls and young women. It is much
more common in Asian and Afro-Caribbeans than Caucasians. It is
characterised by multiple autoantibodies which cause, amongst other
things, haematuria and proteinuria.


3. List the presenting features of UTI in infants, preverbal children and
verbal children

Presentation of UTI varies with age. In infants the symptoms are non-
specific; fever is usually but not always present, and septicaemia may
develop rapidly. The classical symptoms of dysuria, frequency and loin
pain become more common with increasing age. Dysuria alone is usually
due to cystitis, or vulvitis in girls or Balanitis in uncircumcised boys. A UTI
may also occur following sexual abuse.

Presentation of an infant:
Fever
Vomiting
Lethargy and irritability
Poor feeding/failure to thrive
Jaundice
Septicaemia
Offensive urine
Febrile convulsion (>6 months)

Presentation of a child:
Dysuria and frequency
Abdominal pain or loin tenderness
Fever with or without rigors (exaggerated shivering)
Lethargy and anorexia
Vomiting and diarrhoea
Haematuria
Offensive/cloudy urine
Febrile convulsion
Recurrence of enuresis

Page | 258



4. Know the methods of collecting urine i.e. clean catch urine, bag urine,
catheter specimen and suprapubic aspirate and be aware of some of the
advantages and disadvantages for each method

Clean catch urine

A sample is given directly into a clean pot when the nappy is removed.
This is the recommended method

Bag urine

An adhesive plastic bag is applied to the perineum after careful washing,
although there may be contamination of the skin

Urethral catheter

If there is urgency in obtaining a sample and no urine has been passed

Suprapubic aspiration

When a fine needle attached to a syringe is inserted directly into the
bladder just above the symphysis pubis under ultrasound guidance. It
may be used in severely ill infants requiring diagnosis and treatment but
it is an invasive procedure and is increasingly being replaced by urethral
catheter sampling.


5. List the criteria for diagnosis of UTI based on urine dipstick and urine
culture
Page | 259


Ideally urine should be microscoped to identify organisms and cultured
straight away. A dipstick test can be used to screen for infection but a
urine culture should still be performed unless both leukocyte esterase and
nitrate are negative, or if the clinical symptoms and dipstick do not
correlate. A bacterial culture of >10
5
organisms per millilitre gives a 90%
probability of infection and repeating this increases the odds to 95%. A
growth of mixed organisms indicates contamination and any organisms
seen on catheter sampling or SPA indicates infection.

Dipstick testing
Nitrites (N) produced by bacteria positive result is useful as very
likely to indicate a true UTI but can be infected with a negative
result
Leukocyte esterase (LE) testing (for WBCs) may be present in a
child with a UTI but may be negative. Can occur in febrile illnesses.

Dipstick interpretation
If N and LE are positive then regarded as UTI
If LE negative and N positive then start antibiotics and wait on
cultures
If LE positive and N negative then only start antibiotics if clinical
evidence and wait for culture
If LE and N negative then UTI is unlikely
Blood, protein and glucose can help indicate other conditions in an
unwell child but does not discriminate between a child with or
without a UTI


6. Know the definition of atypical UTI and recurrent UTI as stated in the
NICE guidelines CG54 (childhood UTI) and outline the investigation
schedule based on these definitions

Atypical UTI
Seriously ill
Poor urine flow
Abdominal or bladder mass
Raised creatinine
Septicaemia
Failure to respond to suitable antibiotics within 48 hours
Infected with non-E.coli organisms

Recurrent UTI
Two or more episodes of UTI with acute pyelonephritis/upper
urinary tract infection
Page | 260

One episode of UTI with acute pyelonephritis/upper urinary tract
infection plus one or more episodes of UTI with cystitis/lower
urinary tract infection
Three or more episodes of UTI with cystitis/lower urinary tract
infection

NICE recommends guidelines for investigations for both atypical and
recurrent UTIs but they are divided into the age ranges of <6 months, 6
months to 3 years and >3 years

<6 months
Atypical ultrasound during acute infection, DMSA (a
radionucleotide scan to assess renal function) 4-6 months following
acute infection and MCUG (micturating cystourethrogram)
Recurrent same as above
Responding to treatment ultrasound within 6 weeks

6 months 3 years
Atypical ultrasound during acute infection and DMSA 4-6 months
following acute infection
Recurrent ultrasound within 6 weeks and DMSA
Responding none

>3 years
Atypical ultrasound during acute infection
Recurrent ultrasound within 6 weeks and DMSA
Responding none


Vesicoureteric Reflux (VUR)

1. Know the incidence of VUR in the general population and in children
who present with a UTI

Vesicoureteric reflux is a developmental anomaly of the Vesicoureteric
junction. The ureters are displaced laterally and enter directly into the
bladder rather than at an angle, with a shortened or absent intramural
course. Severe cases can be associated with renal dysplasia. It is familial
with a 30-50% chance of occurring in first degree relatives. It may occur
with other bladder pathology or temporarily after a UTI. Its severity can
vary from reflux into the lower end of an undilated ureter during
micturation to reflux during bladder filling and voiding with distended
ureters, renal pelvis and clubbed calyces. Mild reflux is unlikely to be
significant but severe VUR can be associated with intrarenal reflux and
renal scarring. Reflux tends to resolve with age, especially with the milder
grades. Reflux with associated ureter dilatation is important as:
Urine returning to the bladder encourages infection
Page | 261

The kidneys may become infected
Bladder voiding pressure is transmitted to the renal papillae

VUR in healthy neonates is reported at less than 1% but this may be a
gross underestimation because no large population studies have been
done. VUR is ten times as common in white children compared to black
children and children with red hair have an increased risk. It is also 5-6
times more common in females. The incidence is much higher in infants
with febrile UTIs (30-70%).


2. Outline the diagnostic tests for VUR

Laboratory studies would first be done to rule out a UTI. Serum creatinine
and electrolytes will also be checked to assess renal function and
antenatal hydronephrosis.

The main tests are radiological. The main suggested tests are a VCUG
(voiding cystourethrogram main test), a renal bladder ultrasonography
and occasionally a DMSA.


Acute Kidney Injury

1. Know the presenting features of acute kidney injury (AKI) in childhood

Acute kidney injury is where there is a sudden and potentially reversible
reduction in renal function. Oliguria (<0.5ml/kg/hour) is usually present.
The symptoms are usually sudden in onset and vary depending on the
cause. However the common ones are:
Haemorrhage
Fever
Rash
Bloody diarrhoea
Vomiting
Abdominal pain
Pale skin
Oedema
Periorbital swelling
Abdominal masses

The causes can be classified into prerenal, renal and post renal. Prerenal
is the commonest cause in children and includes hypovolaemia (burns,
sepsis, gastroenteritis, haemorrhage, nephrotic syndrome), or circulatory
failure. Renal causes mean there will be salt and water retention and
protein will be found in the urine. Renal causes include vascular (HUS,
vasculitis, embolus and renal vein thrombosis), tubular (acute tubular
Page | 262

necrosis, ischaemic, toxic, obstructive), glomerular (glomerulonephritis)
and interstitial (interstitial nephritis and pyelonephritis). Finally post renal
causes are to do with obstruction and include congenital or acquired
blockage.

Management

Children with AKI should have their fluid balance and circulation checked
whilst an ultrasound will identify any masses or renal obstruction.

Prerenal this is suggested by hypovolaemia and the fractional excretion
of sodium is very low as the body tries to retain fluid. The hypovolaemia
needs urgent treatment with fluid replacement and circulatory support if
acute tubular necrosis is to be avoided.

Renal if there is circulatory overload then restrict fluid intake and
challenge with a diuretic may increase urine output sufficiently to allow
gradual correction of the sodium and water balance. A high-calorie,
normal protein feed will decrease catabolism, uraemia and
hyperkalaemia. If the cause is not obvious then a renal biopsy is indicated
to exclude rapidly progressing glomerulonephritis. The two most common
causes are HUS and ATN.

Postrenal this requires assessment of the site of obstruction and relief
by nephrostomy or bladder catheterisation. Surgery can be performed
when electrolyte and fluid abnormalities have been corrected.

Dialysis in acute renal failure is indicated when there is:
Failure of conservative management
Hyperkalaemia
Severe hypo/hypernatraemia
Pulmonary oedema or hypertension
Severe acidosis
Multisystem failure

There is generally a good prognosis.


2. Understand the need for a multi-disciplinary and multi-professional
team in the management of children with AKI

Understood


Chronic Kidney Disease

1. List the 5 stages of chronic kidney disease (CKD)
Page | 263


Stage 1: normal GFR>90 mL/min per 1.73m
2
and persistent albuminuria

Stage 2: GFR 60-89 mL/min per 1.73m
2
and persistent albuminuria

Stage 3: GFR 30-59 mL/min per 1.73m
2

Stage 4: GFR 15-30 mL/min per 1.73m
2

Stage 5: GFR <15 mL/min per 1.73m
2
or end stage renal disease

Clinical features will vary with stage but can include:
Anorexia or lethargy
Polydipsia and polyuria
Failure to thrive/grow
Bone deformities
Hypertension
Acute-on-chronic renal failure
Proteinuria
Normochromic, normocytic anaemia

2. Understand the need for a multidisciplinary and multi-professional
team in the management of children with CKD

Understood.

I may as well use this objective to talk about the management. Usually
the aim of management is to allow normal growth and development whilst
preserving residual renal function. Diet should be controlled to prevent
excess protein, water and salt balance need controlling, anaemia should
be managed, hormone replacement may be necessary and vitamin D
analogues may be needed.


Glomerulonephritis

1. Name the most common cause of acute glomerulonephritis in childhood

Acute nephritis usually occurs followed a streptococcal sore throat or skin
infection. Other causes include vasculitis (SLE, Wegeners, HSP), IgA
nephropathy and anti-glomerular basement membrane disease. This
condition is when increased glomerular cellularity restricts glomerular
blood flow and therefore filtration is decreased. This leads to:
Decreased urine output and volume overload
Hypertension (may cause seizures)
Oedema (characteristically periorbital)
Haematuria and proteinuria
Page | 264



2. List the initial investigations in patients presenting with acute
glomerulonephritis

Management is by attention to water and electrolyte balance and the use
of diuretics when needed. Rarely there may be a sudden deterioration in
renal function but this is rare, particularly if streptococcus is a cause. If
left untreated then irreversible renal failure may occur over weeks or
months so renal biopsy and subsequent treatment with
immunosuppression and plasma exchange may be necessary.

Initial investigations should include:
Electrolytes and creatinine to assess renal function
FBC infection, anaemia
Urinalysis infection, protein, blood
Urine culture infection
Complement levels
ASO titre
Anti-DNAase B
Serum IgA measurement

If the child has a history consistent with acute post-streptococcal
glomerulonephritis, low C3 and positive ASO and Anti-DNAase B is
enough to provide a provisional diagnosis. If this seems unlikely then a
renal biopsy is the single most effective mechanism to get a diagnosis.

Renal ultrasonography is usually performed to exclude other causes of
hypertension and haematuria.


Haemolytic Uraemic Syndrome (HUS)

1. Name the most common causative organism of childhood, diarrhoea
associated HUS

Typical HUS is secondary to gastrointestinal infection with verocytotoxin
producing E.coli 0157, acquired through contact with farm animals or
eating uncooked beef or less commonly due to shigella. It follows a
prodrome of bloody diarrhoea. The toxin from these organisms enters the
GI mucosa and preferentially localised to the endothelial cells of the
kidney where it causes intravascular thrombogenesis (formation of clots).
This clotting results in the microangiopathic haemolytic anaemia. With
early supportive therapy, including dialysis, the prognosis is good.


2. List the triad of abnormalities which define HUS
Page | 265


Acute renal failure
Microangiopathic haemolytic anaemia (destruction of red blood cells
due to vessel anomalies)
Thrombocytopenia (low platelets)


3. Appreciate the difference between diarrhoea associated and non-
diarrhoea associated HUS and the implications for diagnosis

Atypical HUS has no diarrhoeal prodrome, may be familial and frequently
relapses. It has a high risk of hypertension and chronic renal failure and
has a high mortality. Children with intracerebral involvement or with
atypical HUS may be treated with plasma exchange or plasma infusions,
but their efficacy is unproven.


Hypertension

1. Understand the importance of blood pressure centiles in children

These are very useful as the blood pressure will gradually increase with
age. Hence knowing the exact normal range can help demonstrate
abnormal values whilst taking into account height.

When measuring blood pressure the cuff should be at least 2/3 of the
upper arm length to avoid a false reading. In children aged 1-5 the blood
pressure should be under 110mmHg and in children 6-10 it should be
under 120mmHg.

2. Be aware of the common causes of hypertension in children

Hypertension is defined as blood pressure above the 95
th
centile for
height, age and sex. Symptomatic hypertension is usually due to cardiac,
renal or endocrine disorders. Presentation includes vomiting, headaches,
facial palsy, hypertensive retinopathy, convulsions or proteinuria. Failure
to thrive and cardiac failure are the commonest signs in infants.

Renal causes
Renal parenchymal disease
Renovascular (renal artery stenosis)
Polycystic kidneys
Renal tumour

Coarctation of the aorta

Catecholamine excess
Page | 266

Phaeochromocytoma rare tumour of the adrenals causing excess
adrenaline to be released
Neuroblastoma

Endocrine
Congenital adrenal hyperplasia
Cushings syndrome or corticosteroid therapy
Hyperthyroidism

Essential hypertension a diagnosis of exclusion


3. Understand the importance of investigation for an underlying cause in
children who present with hypertension

As hypertension can lead to bleeds and serious damage to organs, it is
vital that a cause is found so treatment can commence. Many of these
causes also have a wider systemic impact that must be managed. Early
detection is hence important and children with hypertension should have
their blood pressure checked annually throughout life. Children with
essential hypertension should be encouraged to restrict their salt intake,
avoid obesity and have their blood pressure regularly checked.


Pyelonephritis

1. Define pyelonephritis and cystitis as stated in the NICE guidelines CG54
(childhood UTI)

Pyelonephritis a bacterial infection of the upper urinary tract causing
inflammation of the kidney(s)

Cystitis inflammation of the bladder

2. Be aware of the treatment

For infants and children 3 months or older with acute
pyelonephritis/upper urinary tract infection:
Consider referral to a paediatric specialist
Treat with oral antibiotics for 7-10 days. The use of antibiotics with
low resistance patterns is recommended i.e. cephalosporin and co-
amoxiclav
If oral antibiotics cannot be used, treat with IV antibiotics such as
cefotaxime or ceftriaxone for 2-4 days followed by oral antibiotics
for a total duration of 10 days

Page | 267

For infants and children 3 months or older with cystitis/lower urinary tract
infection:
Treat with oral antibiotics for 3 days i.e. trimethoprim,
nitrofurantoin, cephalosporin or amoxicillin
The parents or carers should be advised to bring the infant or child
for reassessment if the infant or child is still unwell after 24-48
hours. If an alternative diagnosis is not made, a urine sample
should be sent for culture to identify the presence of bacteria and
determine antibiotic sensitivity if urine culture has not already been
carried out.

Antibiotic prophylaxis should not be routinely recommended in infants and
children following first-time UTI.


Urinary Tract Abnormalities

1. Know the presenting features of urinary tract abnormalities e.g.
antenatal diagnosis, UTI

Before antenatal ultrasound scanning became routine there were few
congenital conditions diagnosed until they caused symptoms in later
childhood. Now the majority are identified in utero and can be managed
prospectively. Abnormalities are identified in 1 in 200-400 births.
Abnormalities include:
Absence of both kidneys (renal agenesis) severe oligohydramnios
resulting in Potter syndrome
Multicystic dysplastic kidney a non-functioning structure with
large fluid filled cysts and no renal tissue or connection to the
bladder.
Autosomal dominant or recessive polycystic kidney disease in
comparison to the condition above some renal function is
maintained but both kidneys are always affected
Pelvic or horseshoe shaped kidneys predisposed to infection or
obstructs drainage
Duplex system varies from a bifid pelvis to complete division and
two ureters. These can cause a variety of problems including reflux
and obstruction
Posterior urethral valves a valve in the urethra which causes
obstruction and reflux
Hydronephrosis a dilation and swelling of the kidney due to
increased back pressure.


2. Understand the investigations used in the diagnosis of antenatal
urinary tract abnormalities

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The GFR is low in a newborn infant and is especially low in premature
infants. At 28 weeks gestation the GFR is only 10% of the term infant. In
a term infant GFR is 15-20 ml/min per 1.73m
2
but rapidly rises to a
normal adult rate by the age of 2.

There are many investigations available to monitor the kidney and renal
systems. Most of these are mentioned above or below but the following is
a brief overview:
Ultrasound provides anatomical assessment but not function
DMSA scan detects functional defects
MCUG/VCUG visualise bladder and urethral anatomy and can
detect both reflux and obstruction
MAG3 isotope scan isotopes excreted from the blood into the
urine can be measured
Plain abdominal X-ray spinal abnormalities and potentially renal
stones


Hypospadias

1. Outline the embryology and be aware if the treatment options

In the male foetus the formation of the urethra occurs in a proximal to
distal direction under the influence of testosterone. Failure to complete
this results in a urethral opening proximal to the normal position on the
glans, termed hypospadias. It is a common congenital abnormality
occurring in about 1 in 200 boys.

Signs and symptoms include ventral urethral meatus normally on the
glans penis but can be on the corona, shaft or perineum. There is a hood
dorsal foreskin that has failed to fuse ventrally and a chordee-ventral
curvature (of the penis head) seen in severe hypospadias.

Complications are mostly cosmetic but more severe abnormalities cause
problems urinating and with erections. In the most severe disease other
genito-urinary abnormalities should be excluded along with intersex
disorder.


IgA nephropathy

1. Be aware that IgA nephropathy shares the histopathological features of
HSP nephritis

This may present with episodes of macroscopic haematuria, commonly in
association with upper respiratory tract infections. Histological findings
and management are as for HSP, which may be a variant of the same
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pathological process but not restricted to the kidney. The prognosis in
children is better than that in adults.


Neuropathic bladder

1. Have an awareness of the presenting features of children with a
neuropathic bladder

Neurogenic bladder is a condition where the bladder does not empty
properly due to a neurological condition or spinal cord injury (or spinal
bifida). Symptoms may include:
Urinary incontinence the need to urinate frequently and with
urgency as well as experiencing small during volume during
urination, dribbling urine and loss of sensation of bladder fullness.
Urinary tract infection an infection may result from urine being
held in the bladder too long
Kidney injury these occur as a result of the high pressure caused
by urine back log
Kidney stones can be difficult to detect if the child cannot feel pain
due to spinal injury. Symptoms include pain, blood in urine and
fever/chills.
Erectile dysfunction may present in later life


Vulvo-Vaginitis

1. Understand that this is common in young girls and the initial steps in
management

Vulvovaginitis and vaginal discharge are common in young girls. They
may result from infection, poor hygiene, or sexual abuse, although none
of these factors is present in most cases. Vulvovaginitis may rarely be
associated with thread worm infestation. Parents should be advised about
hygiene, the avoidance of bubble bath and scented soaps and the use of
loose-fitting cotton underwear. Swabs should be taken to identify any
pathogens which can then be specifically treated. Salt baths may be
helpful. Oestrogen cream applied sparingly to the vulva may relieve the
problem in resistance cases by increasing vaginal resistance to infection
as prepubertal tissues tend to be atrophic. If there are any concerns
about sexual abuse then the child must be seen by a paediatrician.
Rarely, if the vaginal discharge is persistent or purulent, examination
under anaesthesia may be needed to exclude a vaginal foreign body or
unusual infection.


Neurology
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Cerebral Palsy

1. To understand the risk factors for development of CP and be able to
distinguish between different types of CP

Cerebral palsy may be defined as an abnormality of movement and
posture, causing activity limitation attributed to non-progressing
disturbances that occurred during development of the fetal brain. The
motor disorders of CP are often accompanied by:
Learning difficulties 60%
Epilepsy 40%
Squints 30%
Vision problems 20%
Hearing problems 20%
Speech and language disorders
Behavioural disorders
Feeding problems
Joint contractures, subluxations and scoliosis

The lesion is non progressive but the clinical manifestations arise over
time. CP is the commonest cause for motor impairment in children and
affects 2 in 1000 live births.

Causes

About 80% of CP is antenatal in origin due to vascular occlusion, cortical
migration disorders or structural maldevelopment of the brain during
gestation. Other antenatal causes are genetic syndromes and congenital
infection. Only about 10% of cases are thought to be due to hypoxic-
ischaemic injury during delivery and this proportion has remained
relatively constant. About 10% are postnatal in origin and preterm infants
are particularly vulnerable to periventricular leukomalacia secondary to
ischaemia and/or severe haemorrhage. Other postnatal causes include
meningitis/encephalitis/encephalopathy, head trauma, symptomatic
hypoglycaemia, hydrocephalus and hyperbilirubinaemia.

Presentation and subtypes

Early features of CP include:
Abnormal limb and/or trunk posture and tone in infancy with
delayed motor milestones
Feeding difficulties, with oromotor incoordination, slow feeding,
gagging and vomiting
Abnormal gait once walking is achieved
Asymmetric hand function before 12 months of age
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Secondary to this; in CP the primitive reflexes which facilitate the
emergence of normal patterns of movement and which need to disappear
for motor development to progress, may persist and become obligatory.

Spastic cerebral palsy (90%) due to damage of the UMN pathway. Limb
tone is persistently increased with associated brisk deep tendon reflexes
and extensor plantar responses. The tone in spasticity is velocity
dependent, so the faster the muscle is stretched the greater the
resistance it will have. This elicits a dynamic catch which is the hallmark
of spasticity. The increased limb tone may also yield under pressure clasp
knife. Limb involvement is unilateral or bilateral. Spastic CP can itself be
divided into three subtypes:
Hemiplegia unilateral involvement of the arm and leg. The arm is
usually affected more than the leg with the face spared. Children
present at 4-12 months with fisting of the affected hand, a flexed
arm, a pronated forearm, asymmetric reaching or hand function. A
tiptoe walking on the affected side may become evidence. Initially
the limbs may be hypotonic before increasing in tone
Quadriplegia all four limbs are affected, often severely. The trunk
is involved with a tendency to opisothonus (extensor protruding
severe arching of the back), poor head control and low central tone.
This more severe form is associated with seizures, microcephaly
and moderate to severe intellectual impairment.
Diplegia all four limbs can be affected but the legs are affected
much more than the arms so that hand function may appear
normal. Motor abnormalities in the arms are most apparent with
functional use of both hands. Walking is abnormal. This is one of
the patterns associated with preterm birth due to periventricular
brain damage. Intellectual functioning is usually normal.

Dyskinetic cerebral palsy (6%) refers to movements which are
involuntary, uncontrolled and often stereotyped. They are much more
evidence with active movement or stress. Muscle tone is variable and
primitive motor reflexes predominate. The pattern may be described as
chorea (irregular sudden movements), athetosis (slow writhing
movements) or dystonia (simultaneous contraction of agonist and
antagonist). Intellect may be relatively unimpaired and affected children
are often floppy with poor trunk control and delayed motor development.
Abnormal movements may only appear towards the end of the first year
of life. This is due to damage of the basal ganglia, typically due to
kernicterus or HIE.

Ataxic (hypotonic) cerebral palsy more genetically determined. When
due to a brain injury (of the cerebellum) the signs occur on the same side
as the lesion but are usually relatively symmetrical. There is early trunk
and limb Hypotonia, poor balance and delayed motor development.
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Incoordinate movements, intention tremor and an ataxic gait may be
evident later.


2. To know how to treat these children with therapy, antispasmodic
drugs, orthopaedic surgery and baclofen pumps

Physiotherapy

Started as soon as the diagnosis is given and has two main goals: to
prevent weakness of muscles not normally used and to prevent muscles
getting stuck in a rigid position.

Drugs

Diazepam tends to be prescribed as a muscle relaxant but side effects
include drowsiness, slurred speech, constipation, nausea and
incontinence. Alternative botox injections can be used to relieve some
stiffness of muscle groups. Finally baclofen intrathecal therapy can be
used which involves connecting a pump outside the body which is linked
to the spine. This infusion then blocks some nerve signals.

Orthopaedic surgery

Can be used to lengthen any muscles which are causing problems.
Sometimes multiple surgeries are needed due to a child growing.


3. Understand a multidisciplinary approach

Children with CP are likely to have a wide range of associated medical,
psychological and social problems making it essential to adopt a
multidisciplinary approach to assessment and management.


Epilepsy

1. To be able to distinguish between common types, know what an EEG
and MRI scan can and cannot show

Epilepsy has a prevalence of 0.5%. It is a chronic neurological disorder
characterised by recurrent unprovoked seizures consisting of transient
signs and/or symptoms associated with abnormal, excessive or
synchronous neuronal activity in the brain. Most causes are idiopathic but
can result from tumours or damage. Epilepsy can be broadly classified as
seizures that are either generalised or focal.

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Generalised seizures

These occur when discharges arise from both hemispheres and include
absence, myoclonic, tonic, tonic-clonic and atonic seizures.
Absence transient loss of consciousness with an abrupt onset and
termination, unaccompanied by motor phenomena except for some
flickering of the eyelids. Absences can often be precipitated by
hyperventilation.
Myoclonic brief but often repetitive jerking movements of the
limbs, neck or trunk. Non-epileptic myoclonic movements can be
seen in stage 2 sleep or with hiccoughs.
Tonic generalised increase in tone
Tonic-clonic a rhythmical contraction of muscle groups following
the tonic phase. Children often fall to the ground and stop breathing
temporarily, becoming cyanosed. Breathing is irregular and there is
a build up of saliva in the mouth. There may also be tongue biting
and incontinence. The seizures usually last for a few seconds to
minutes and are followed by unconsciousness or deep sleep for up
to several hours.
Atonic often combined with a myoclonic jerk, followed by a
transient loss of muscle tone causing a sudden fall to the floor or
drop of the head

Focal seizures

Frontal involves the motor or premotor cortex and leads to clonic
movement. Asymmetrical tonic seizures can be seen.
Temporal the most common of all epilepsies and result in strange
warning feelings with smell and taste abnormalities and distortions
of sound and shape. Lip-smacking, plucking at clothes and
purposeless walking are seen along with dj-vu.
Occipital causes visual distortion
Parietal causes contralateral dysaesthesias (altered sensation) or
distorted body image

Syndromes

There are several syndromes associated with epilepsy which are
important to know.
West syndrome (4-6 months) EEG shows hypsarrhythmia (chaotic
background of slow wave activity with sharp multi-focal
components). Pattern of seizure is violent flexor spasms of the
head, trunk and limbs followed by extension of the arms. Spasms
occur for 1-2 seconds and repeat 20-30 times.
Lennox-Gastaut syndrome (1-3 years) mostly drop attacks, tonic
seizures and atypical absences
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Childhood absence epilepsy (4-12 years) EEG shows 3/second
spike and wave discharge which is bilaterally synchronous.
Benign epilepsy tonic-clonic seizures in sleep or simple focal
seizures with awareness of abnormal feelings. EEG shows focal
sharp waves from the Rolandic area.
Early onset benign childhood occipital epilepsy periods of
unresponsiveness in young children and hallucinations/visual
disturbance in older children. EEG shows occipital discharges
Juvenile myoclonic epilepsy myoclonic seizures but generalised
tonic-clonic or absences may also occur, mostly shortly after
waking. There is a characteristic EEG.


2. Have some knowledge of initial investigations and treatment options

Investigations

An EEG is indicated whenever epilepsy is suspected. Many children with
epilepsy have a normal initial EEG and many children who will never have
epilepsy have EEG abnormalities. Unless a seizure is captured, an EEG
does no more than add supportive evidence for the diagnosis. If the EEG
is normal a sleep or sleep-deprived study can be helpful. Additionally a 24
hour ambulatory EEG or video-telemetry study can be done.

To assess structure an MRI or CT brain scan may be used. They are
usually indicated if there are neurological signs between seizures or if the
seizures are focal, in order as to identify a tumour, vascular lesion or area
of sclerosis that can be treated.

Functional scans may be done to detect abnormal areas of metabolism
suggestive of seizure foci. These include PET and SPECT scans.

Other investigations include metabolic and genetic studies.

Treatment

Anti-epileptic drugs can be used for treatment. The principles that govern
their use are:
Not all seizures require AED therapy and treatment should be based
on seizure type, frequency and the social and education
circumstances.
Choose the appropriate drug for the seizure
Monotherapy at the minimum dose is desired
All AEDs have unwanted side effects that need discussing
Drug levels are not measured routinely
Children with prolonged seizures are given rescue therapy (usually
rectal or buccal diazepam)
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AED can usually be discontinued after 2 seizure free years.

Seizure type First line Second line
Tonic-clonic Valporate,
carbamazepine
Lamotrigine
Absence Valporate,
ethosuximide
Lamotrigine
Myoclonic Valporate Lamotrigine
Focal Carbamazepine,
valporate
Topiramate


Other treatment options include:
Ketogenic diets may be helpful in some children
Vagal nerve stimulation delivered using an external
programmable wire or magnet
Surgery if well localised with useful EEG and MRI findings but
involves removal of sections of brain.


3. To be conversant with the names and side effects of common
anticonvulsant medication

Valporate S/E include weight gain, hair loss and rarely liver failure

Carbamazepine S/E include rash, neutropenia, hyponatraemia, ataxia,
liver enzyme induction

Lamotrigine S/E include rash

Ethosuximide S/E include nausea and vomiting

Benzodiazepines S/E include sedation, tolerance to effect and increased
secretions


4. To know about SUDEP and what safety information to give families

Sudden unexpected death in epilepsy (SUDEP) occurs in a very small
proportion of people and the cause is often not known. It is not due to
injury, drowning or a prolonged seizure causing hypoxia. It is estimated
to cause around 500 deaths per year. It is most common in people who
have generalised tonic-clonic seizures, especially in young adults. The risk
factors appear to be poor seizure control and seizures occurring in sleep.

The risk can be minimised by firstly trying to prevent seizures through
medication or surgery.
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Febrile Convulsion

1. To be able to explain to parents how often these occur and basic first
aid advice

A febrile seizure is a seizure accompanied by a fever in the absence of
intracranial infection due to bacterial meningitis or viral encephalitis.
These occur in 3% of children, between the ages of 6 months and 5
years. There is a genetic predisposition, with a 10% risk if the child has a
first-degree relative with febrile seizures. The seizure usually occurs early
in a viral infection when the temperature is rapidly rising. The seizures
are usually brief and are generalised tonic-clonic seizures. About 30-40%
will have further febrile seizures. This is more likely the younger the child,
the shorter the duration of illness before seizure (the first time), the lower
the temperature at the time of seizure and if this is a positive family
history.

Simple febrile seizures do not cause brain damage and the childs
subsequent intellectual performance is the same as in children who do not
experience a febrile seizure. There is a 1-2% chance of developing
epilepsy, similar to the risk of all children. However complex febrile
seizures, i.e. those which are focal, prolonged or repeated in the same
illness, have an increased risk of 4-12% of subsequent epilepsy.

Management is to ensure the cause isnt something more serious and
involves ruling out meningitis. This process also involves informing the
parents and providing reassurance. First aid basics for seizure
management should be taught and are detailed below. Antipyretics and
cold sponges are not recommended as they dont seem to work.
Antiepileptic drugs are not used and an EEG is not indicated.

First aid place them in the recovery position on a soft surface to prevent
them aspirating vomit once the seizure is over. Whilst the seizure is
occurring the child should be placed in a safe location, away from hard
objects that can cause injury. Stay with the child and call for help if the
seizure lasts longer than 5 minutes.


2. To know about their relationship with epilepsy

See objective 1.


Fits/Faints/Funny Turns

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1. To be able to distinguish between epileptic attacks, syncopal episodes
and other movement disorders

These can also be labelled as paroxysmal disorders. The major question is
whether a diagnosis of epilepsy is correct or if there is a different cause
mimicking it. A clinical diagnosis based on history, examination and EEG
should be enough to help differentiate. Causes of funny turns include:
Breath holding attacks toddler holds breath whilst crying and can
lose consciousness but rapidly recovers
Reflex anoxic seizures occurs in infants or toddlers and triggers
include pain or discomfort. After the trigger the child becomes pale
and falls to the floor, the hypoxia may stimulate a tonic-clonic
seizure. These are brief and recovery is complete
Syncope children may faint from hot environments or prolonged
standing
Migraine headaches with unsteadiness or light-headedness
Benign paroxysmal vertigo vertigo lasting several minutes and
associated with nystagmus and possible falling. Usually due to viral
Labyrinthitis
Cardiac causes cardiomyopathy or prolonged QT syndrome
Other causes psuedoseizures, Munchausens by proxy, NAI, atonic
epileptic seizures


Ataxia

1. To be able to list the common causes of ataxia and know how to
investigate them

Ataxia describes the incoordination of movement, speech and posture due
to either cerebellar (more common in children) or posterior pathway
problems. In cerebellar ataxis there is an unsteady wide-based gait
(truncal ataxis), dysdiadochokinesis, overshooting of target directed
movement (dysmetria) and an intention tremor. There may also be a
scanning dysarthria (speech problem), positive Rombergs test and
nystagmus. Causes of cerebellar ataxis include:
Acute causes medications, drugs, alcohol, solvents, trauma
Post viral seen with varicella infection
Posterior fossa lesions CPA syndrome
Genetic and degenerative disorders (see below)

The genetic and degenerative disorders are:
Ataxic cerebral palsy
Friedreichs ataxia this is an autosomal recessive condition. It
presents with worsening ataxia, distal wasting in the legs, absent
lower limb reflexes but extensor plantar responses because of
pyramidal involvement, pes cavus (high arch) and dysarthria. This
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is similar to hereditary motor sensory neuropathies but with FA
there is impairment of joint position and vibration sense, extensor
plantars and there is often optic atrophy. The cerebellar component
will become more apparent with age. Evolving kyphoscoliosis and
cardiomyopathy can cause cardiorespiratory compromise and death
at 40-50 years.
Ataxia telangiectasia this disorder is of DNA repair and is an
autosomal recessive condition. There may be a mild delay in motor
development in infancy and oculomotor problems with
incoordination and delay in ocular pursuit of objects, with difficulty
with balance and coordination becoming evident at school age.
There is subsequent deterioration with a mixture of dystonia and
cerebellar signs. Many children require a wheel chair for mobility.
Telangiectasia develops in the conjunctiva, neck and shoulders from
about 4 years. These children are more susceptible to infection (IgA
defect), develop malignant disorders, have raised alpha-fetoprotein
and have increased white cell sensitivity to radiation.

Investigations include genetic testing, lumbar puncture and brain scans to
check for tumours or damage.


Brain Tumours

1. To be aware of the presenting features of brain tumours

Brain tumours are almost always primary tumours in children and 60%
are infratentorial (cerebellar and brainstem). They are the most common
solid tumour in children and are the leading cause of childhood cancer
deaths in the UK. The types of brain tumour and their presentation are:
Astrocytoma (40%) varies from benign to highly malignant and
often occurs in the cerebral hemispheres. Symptoms include
seizures, headaches and focal neurological signs. Outlook is
generally poor.
Medulloblastoma (20%) arises in the midline of the posterior
fossa and may seed through the CNS via the CSF. Up to 20% will
have spinal metastases at diagnosis. Symptoms include truncal
ataxia, coordination difficulties, abnormal eye movements and
morning vomiting. Treatment is surgical followed by total body
irradiation. Survival at 5 years is 50%
Ependymoma (8%) mostly in the posterior fossa where it behaves
like medulloblastoma.
Brain stem gliomas (6%) commoner in early childhood and
presents with signs of cranial nerve defects, pyramidal tract signs,
ataxia and often no increased ICP. Prognosis is poor with only a
20% survival
Page | 279

Craniopharyngioma (4%) a developmental tumour arising from
the squamous remnant of Rathke pouch. It is not truly malignant
but is locally invasive and grows slowly in the suprasellar region.
Signs include visual field loss and bitemporal hemianopia, pituitary
failure (growth failure, weight gain and diabetes insipidus).

Signs of raised ICP in children and adolescents include:
Headache worse in the morning
Vomiting especially on waking
Behaviour/personality change
Visual disturbance
Papilloedema
And in young infants:
Vomiting
Separation of sutures/tense fontanelle
Increased head circumference
Head tilt/posturing
Developmental delay/regression


Breath holding

1. To be able to recognise the history of a child with this condition

Breath holding spells are brief periods when a young child stops breathing
for up to a minute. These spells often cause the child to pass out (lose
consciousness). Breath holding usually occurs when a child is angry,
frustrated, in pain or afraid. But the spell is a reflex and is usually not a
deliberate act. Breath holding can be classified as:
Cyanotic the most common type and occurs in response to anger
or frustration. A childs skin typically turns red or blue-purple
Pallid a pale appearance to the childs skin in response to fear,
pain or injury, especially after head trauma.
Breath holding occur in children between 6 months and 6 years but is
most common between 1 and 3 years. Some children may have one spell
a year whilst others have several a day. These are not serious and should
not cause any serious damage. They should eventually resolve.

Symptoms of a cyanotic spell are:
A short burst of rigorous crying lasting less than 30 seconds
Hyperventilation
A pause in breathing after exhaling
Red or blue skin and lips
Seizures may occur


Developmental Regression
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1. To know the common causes of regression e.g. Battens disease, Retts,
Leukodystrophies, Wilsons and SSPE

Developmental regression is different to developmental delay as a child
loses skills that they have previously acquired rather than never acquiring
them.

Battens disease is a rare, fatal autosomal recessive neurodegenerative
disorder that begins in childhood. Symptoms occur around 4-10 years
with a gradual onset of visual problems and seizures. This progresses to a
change in behaviour, speech and a regression in learning. There may be a
slow in growth and breath holding attacks. Eventually function will
deteriorate to dementia and death.

Retts syndrome is a pervasive developmental disorder mentioned above
in the genetic disorders section

Leukodystrophies refers to a group of conditions characterised by
dysfunction of the white matter of the brain. The cause is incorrect growth
of the myelin sheath. Symptoms include a gradual decline in an
infant/child who was previously doing well, progressive loss of movement,
speech, vision, hearing and behaviour.

Wilsons disease is an autosomal recessive disorder with an incidence of 1
in 200,000. The general result of the condition is a reduced synthesis of
copper binding protein as well as defective excretion of copper in the bile
which leads to an accumulation of copper in the liver, brain, kidney and
cornea. Wilsons disease rarely presents in children under 3 and can
present with almost any form of liver disease including hepatitis,
(fulminant or acute), cirrhosis and portal hypertension. Neuropsychiatric
features are more common after the second decade and include
deterioration in school performance, mood, behaviour and coordination.

SSPE (subacute sclerosis panencephalitis) is a rare, chronic, progressive
encephalitis caused by a persistent infection of immune resistant measles
virus. The history is a primary infection before the age of 2 and then 6-15
asymptomatic years before gradual psychoneurological deterioration.


Hydrocephalus

1. To understand the difference between obstructive, communicating and
external hydrocephalus

In hydrocephalus there is an obstruction to the flow of CSF leading to
dilatation of the ventricular system proximal to the site of obstruction.
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Obstructive the obstruction may be within the ventricular system
or aqueduct
Communicating the obstruction may be at the arachnoid villi, the
site of absorption for CSF (but can also be due to CSF
overproduction or venous drainage insufficiency)
External this is a benign condition with a self-limiting absorption
deficiency of infancy and early childhood that leads to increased
ICP. It is thought to be due to an immaturity of arachnoid villi not
absorbing fast enough.

Clinical features as a disproportionately large head circumference or
excessive rate of head growth (due to failure of suture formation). When
the skull sutures separate the anterior fontanelle bulges and the scalp
veins become distended. An advanced sign is a fixed downwards gaze or
sun setting of the eyes. Older children with develop signs of increased ICP
(see brain tumour section).


Macrocephaly

1. To know the common causes

Macrocephaly is a head circumference above the 98
th
centile. Most are
normal children and often have parents with big heads. A rapidly
increasing head circumference, even if below the 98
th
centile, suggests
rapidly increasing ICP and may be due to hydrocephalus, subdural
haematoma or brain tumour. It must be investigated promptly by
intracranial ultrasound if the anterior fontanelle is still open, otherwise by
CT or MRI scan.
Common causes of a large head area:
Tall stature
Familial macrocephaly
Raised intracranial pressure
Hydrocephalus (progressive or arrested)
Chronic subdural haematoma
Cerebral tumour
Neurofibromatosis
Cerebral gigantism (Sotos syndrome)
CNS storage disorders e.g. mucopolysaccharidosis (hurler
syndrome)


Microcephaly

1. To know the common causes

Microcephaly is a head circumference below the 2
nd
centile and may be:
Page | 282

Familial when it is present from birth and development is often
normal
An autosomal recessive condition when it is associated with
developmental delay
Caused by congenital infection
Acquired after an insult to the developing brain, e.g. perinatal
hypoxia, hypoglycaemia or meningitis, when it is often accompanied
by cerebral palsy and seizures.


Migraine/Headache

1. To be able to distinguish between migraine and tension headaches

Headache is a frequent reason for consultation. Headaches can be
classified as:
Primary migraines, tension-type headaches, cluster headaches
and other primary headaches. These are thought to be due to
primary malfunction of neurones
Secondary symptomatic of some underlying pathology
Trigeminal and other cranial neuralgias including nerve root pain

Tension-type Headache

A symmetrical headache with gradual onset often described as a bilateral
tight band-like pain. There are usually no other symptoms but may be
accompanied by abdominal pain and behavioural problems and occur
daily.

Migraine

Without aura this accounts for 90% of migraines and in children the
episodes may last 1-72 hours. The headache is commonly bilateral but
may be unilateral. Characteristically pulsatile, over temporal or frontal
areas and is accompanied by unpleasant GI disturbances such as nausea,
vomiting and abdominal pain and photophobia or phonophobia. It can be
aggravated by physical activity.

With aura accounts for 10% of migraines. This headache is preceded by
an aura (visual, sensory or motor), although the aura may occur without
the headache. Features are the absence of problems between attacks and
the frequent presence of premonitory symptoms (tiredness, difficulty
concentrating, autonomic features etc). The most common auras involve
visual disturbances and may include:
Negative phenomena, such as hemianopia or scotoma
Positive phenomena such as fortification spectra (zigzag lines)
Page | 283

Episodes usually last for a few hours, during which the children often
prefer to lie down in a quiet, dark room and sleep (relieves the bout).
Symptoms of tension-type headaches and migraines often overlap and
are probably a continuum of the same disorder. There is a genetic
predisposition to these in some people.


Raised Intracranial Pressure

1. To know what features are suggestive of raised ICP and be aware of
treatment options

The features of raised ICP for both adults/children and infants are listed in
the brain tumours section. Treatment really depends upon the cause.
Tumour consider prompt removal surgically or
radio/chemotherapy
Subdural haematoma surgical drainage
Hydrocephalus ventriculoperitoneal shunt
If idiopathic then specific diuretics can be prescribed by the
neurologist. Hypoventilation of the patient can temporarily
decreased ICP by decreased CO
2
and causing vasoconstriction
Craniotomy may be performed if other procedures have not worked


Reflex Anoxic Seizures

1. To know how this presents

Typically occur in infants or toddlers. They may have a first degree
relative with a history of faints. The commonest triggers are pain or
discomfort, particularly minor head trauma, cold food (e.g. ice cream or
cold drinks), fright or fever. Some children with febrile seizures may have
experienced this phenomenon. After the triggering event the child
becomes very pale and falls to the floor. The hypoxia may induce a
generalised tonic-clonic seizure. The episodes are due to cardiac asystole
from vagal inhibition. The seizure is brief and the child rapidly recovers.
Ocular compression under controlled conditions often leads to asystole
and paroxysmal slow wave discharge on the EEG.


Subdural Haematoma

1. To be aware of the causes of this and to be able to recognise the
symptoms

This results from tearing of the veins as they cross the subdural space. It
is a characteristic lesion in non-accidental injury caused by shaking or
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direct trauma in infants or toddlers. Retinal haemorrhages are usually
present. Subdural haematomas are occasionally seen following a fall from
a considerable height. Symptoms include an altered mental state,
seizures, apnoea, breathing difficulties, headaches, lethargy or sudden
cardiac arrest.


Craniosynostosis

1. To understand how these conditions can occur and the way they may
present

The sutures of the skull bones start to fuse during infancy but do not
finally fuse until late childhood. Premature fusion of one or more sutures
(Craniosynostosis) may lead to distortion of the head shape.
Craniosynostosis is usually localised (sagital suture long narrow skull,
coronal suture asymmetrical skull, and lambdoid suture flattening of
skull). It most often affects the sagital suture when it results in a low,
narrow skull. Rarely it affects the lambdoid suture to result in skull
asymmetry which needs to be differentiated from plagiocephaly, where
there is asymmetrical flattening of one side of the skull from positional
moulding.

Craniosynostosis may be generalised when it may be a feature of a
syndrome (Crouzon syndrome). The fused sutures may be felt or seen as
a palpable ridge and confirmed on skull x-ray or cranial CT. If necessary
the condition can be treated surgically because of raised ICP or for
cosmetic reasons.


Myotonic Dystrophy

1. Be aware of the features of this condition

Myotonia is delayed relaxation after sustained muscle contraction. It can
be identified clinically and on electromyography. Myotonic dystrophy is a
relatively common autosomal dominant condition of triplet repeat
extensions. There is a correlation between the number of repeats and
with severity and onset. This is a progressive condition with onset
between 20 and 50 years of age generally.

Signs and symptoms include a child with poor feeding, failure to meet
milestones and Hypotonia. There is progressive distal muscular weakness,
ptosis, weakness and thinning of the face and sternocleidomastoids along
with the carp mouth. Other features of this syndrome include cataracts,
frontal balding, mild cognitive impairment, oesophageal dysfunction,
cardiomyopathy (main cause of death) and conductive defects, small
Page | 285

pituitary fossa and hypogonadism, glucose intolerance and low serum
IgG. Look for myotonia (a slow relaxation of muscles, classically seen with
difficulty releasing ones hand on shaking it) in the mother.


Myopathy

1. To be aware of the features of Duchenne Muscular Dystrophy and
Congenital Muscular Dystrophies

The DMD section covers everything important with regards to this.

Congenital muscular dystrophies are a heterogeneous group of disorders,
most with recessive inheritance, which present at birth or early infancy
with weakness, Hypotonia or contractures. Typically the proximal
weakness is slowly progressive with a tendency to contracture when the
ability to walk is lost. Some may run a more static course. Biopsy shows
dystrophic features with a reduction of one of the extracellular matrix
proteins such as laminin (most common); or one of several
glycosyltransferases. These dystrophies may be linked with central
nervous abnormalities, which may result in learning difficulties. The main
difference that I can see between these and DMD is the fact that these
present at birth and tend to have a more variable and longer life
expectancy.


2. To know about the treatment of DMD i.e. steroids, cardiac drugs and
nocturnal ventilation

See the DMD objective.


Neuropathy

1. To know about acute conditions e.g. Guillain-Barre, and also chronic
neuropathies e.g. Charcot Marie Tooth, CIDP

Guillain-Barre syndrome

Presentation is typically 2-3 weeks after a URTI or campylobacter
gastroenteritis. There may be fleeting abnormal sensory symptoms in the
legs, but the prominent features is an ascending symmetrical weakness
with loss of reflexes and autonomic involvement. Sensory symptoms,
usually in the distal limbs, are less striking than the paresis but can be
unpleasant. Involvement of bulbar muscles leads to difficulty chewing and
swallowing and the risk of aspiration. Respiratory depression may require
artificial ventilation. The maximum muscle weakness may occur only 204
Page | 286

weeks after the onset of illness. Although full recovery may be expected
in 95% of cases, this may take up to 2 years. CSF protein is raised after 2
weeks but white cells are negative, there is also a reduction in nerve
conduction velocities. Management is supportive, particularly of
respiration. This disorder is probably due to the formation of antibody
attaching itself to protein components of myelin. Corticosteroids have no
beneficial effect and may even delay recovery. Ventilator supported
periods can be significantly reduced by IVIG or plasma exchange.

Bell Palsy

This is an isolated lower motor neurone paresis of the 7
th
cranial nerve
leading to facial weakness. Although the aetiology is unclear, it is
probably post-infectious with an association with HSV in adults.
Corticosteroids may be of value in reducing oedema in the facial canal
during the first week but acyclovir has shown no benefit. Recovery is
complete in the majority of places but can take several months. The main
complication is conjunctival infection due to incomplete eye closure on
blinking. If an 8
th
nerve palsy is also present then this may be a
compressive lesion at the CPA. Hypertension should also be excluded as
there is an association between Bell palsy and coarctation of the aorta. If
bilateral then suspect sarcoidosis or Lyme disease.

Charcot Marie Tooth

This involves distal muscle wasting and sensor loss with proximal
progression over time. It is usually autosomal dominant (but can be
recessive) and may occur without family history. Onset is usually by the
age of 10 years with:
Muscle weakness and wasting starting with the intrinsic muscles of
the feet and gradually affecting the lower legs and thighs. Sensory
loss is similar and will lead to ataxia. Pain and temperature
sensation are not usually affected
Generalised tendon areflexia
There may be foot drop and difficulty walking
Spinal deformities occur in 50% e.g. thoracic scoliosis
Other common signs and symptoms are hand tremors, muscle
cramps and acrocyanosis (blue extremities).

There are currently no effective treatments to stop or slow progression so
treatment is primarily supportive. Most patients have a normal life
expectancy.

CIDP (Chronic inflammatory Demyelinating Polyneuropathy)

This is an acquired, immune mediated inflammatory disorder of the PNS.
This is related to Guillain-Barre syndrome and is thought as the chronic
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version of this disease. This includes relapsing symptoms that present and
then go. Both proximal and distal limbs are affected with a sense of
weakness. Sensory affects include tingling and numbness but motor
symptoms generally predominate. Deep tendon reflexes are reduced and
gait is abnormal. It is most often idiopathic in origin but has links to
several other diseases including MS and SLE.


Spinal Muscular Atrophy

1. To be aware of the presentation of the different types

Spinal muscular atrophy is an autosomal recessive degeneration of the
anterior horn cells, leading to progressive weakness and wasting of
skeletal muscles due to mutations in the survival motor neurone (SMN)
gene. This is the second most common cause of neuromuscular disease in
the UK after DMD. A number of phenotypes are recognised:

Spinal muscular atrophy type 1 (Werdnig-Hoffmann disease) is a very
severe progressive disorder presenting in early infancy. Diminished fetal
movements are often noticed in pregnancy and there may be
arthrogryposis (positional deformities of the limbs with contractures of at
least two joints) at birth. Typical signs include:
Lack of antigravity power in hip flexors
Absent deep tendon reflexes
Intercostal recession
Fasciculation of the tongue
These children never sit unaided. Death is from respiratory failure within
about 12 months.

There are milder forms of this disorder with a later onset. Children with
type 2 spinal muscular atrophy can sit, but never walk independently.
Those with type 3 (Kugelberg-Welander) do walk and can present later in
life.


Oncology and Haematology

Acute Lymphoblastic Leukaemia

1. Be able to describe the epidemiological risk for malignancy in childhood
and adolescence, demonstrate knowledge of the age incidence profiles of
different malignancies

Childhood malignancy affects 1 in 500 by 15 years of age. It occurs in
1500 people in the UK each year. The distribution of these cancers is as
follows:
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Leukaemia 32%
Brain and spinal tumours 24%
Lymphomas 10%
Neuroblastoma 7%
Soft tissue sarcomas 7%
Wilms tumours 6%
Bone tumour 4%
Retinoblastoma 3%
Others 7%

As with regards to the age incidence profile, it is easier to discuss this
within each individual malignancy. A general guide is that leukaemias
affect children at all ages (although there is an early childhood peak),
Neuroblastoma and Wilms tumour are almost always seen in the first 6
years of life, and Hodgkin Lymphoma and bone tumours have their peak
incidence in adolescence and early life.


2. Be able to describe the common presenting symptoms and signs

ALL accounts for 80% of leukaemia in children and is excess proliferation
of lymphocytes. A large number of immature lymphocytes are produced
rapidly so this condition can progress quickly. Clinical presentation peaks
at 2-5 years and the signs and symptoms results from disseminated
disease and systemic ill health from infiltration of the bone marrow or
other organs with leukaemic blast cells. In most children leukaemia
presents insidiously over several weeks but can progress very quickly.
The signs and symptoms can be classified according to their cause:
General malaise and anorexia
Bone marrow infiltration anaemia (lethargy), neutropenia
(infection), thrombocytopenia (bruising, petechiae, nose bleeds)
and bone pain
Reticulo-endothelial infiltration hepatosplenomegaly,
lymphadenopathy and uncommonly superior mediastinal obstruction
Other organ infiltration CNS (nerve palsies, headaches, vomiting)
and testes (testicular enlargement)


3. The approaches to establishing a diagnosis and initial management
aimed at preserving life with respect to transfusion of blood and platelets
and the risk of metabolic and clotting abnormalities

Investigations should include a FBC. In most children this will be
abnormal with a low haemoglobin, thrombocytopenia and evidence of
circulating leukaemic blast cells. Bone marrow examination is essential to
confirm the diagnosis and to identify immunological and cytogenetic
Page | 289

characteristics which give useful prognostic information. A chest x-ray is
requires to identify mediastinal masses, characteristic of T-cell disease.

The following is a treatment schema for standard-risk acute lymphoblastic
leukaemia:

Weeks of Treatment Stage Treatment
Diagnosis Induction Vincristine. Steroids, IT
methotrexate and L-
Asparaginase
5-8 weeks Consolidation and CNS
protection
IT methotrexate, vincristine,
steroid, thiopurine
8-16 weeks Interim maintenance Monthly vincristine and
pulsed 5 day steroids. Daily
6-mercaptopurine. Weelly
oral methotrexate, IT
methotrexate and
prophylactic co-trimoxazole
16-23 weeks Delayed intensification Vincristine, IT methotrexate,
dexamethasone plus others
23 weeks -2/3 years Continuing maintenance Same as interim maintenace

Blood transfusions of both platelets and whole red cells are used to
reduce symptoms rather than cure the patient. In ALL, patients may have
low platelets leading to bruising and bleeding and hence a platelet
transfusion can help reduce this. The patient may also be anaemic so red
cells will reduce their breathlessness.

Before and during the initial induction phase of chemotherapy patients
may develop tumour lysis syndrome which refers to the metabolic
derangements cause by the systemic and rapidly release of intracellular
contents as chemotherapy destroys leukaemic blast cells. Effects are
hyperuricaemia, hyperphosphataemia, hypocalcaemia and hyperkalaemia.
To prevent complications electrolyte and uric acid levels should be
monitored along with IV fluid therapy. Allopurinol may also be given.


4. Be aware of the treatment regimes available and the theory of their
actions

Remission induction before starting treatment of the disease, anaemia
may require correction with blood transfusion, the risk of bleeding
minimised by transfusion of platelets, and infection must be treated.
Addition hydration and allopurinol are given to protect renal function
against the effects of rapid cell lysis. Remission implies eradication of the
leukaemic blast cells and restoration of normal marrow function. Four
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weeks of combination chemotherapy is given and current induction
treatment schedules achieve remission rates of 95%.

Intensification a block of intensive chemotherapy is given to consolidate
remission and this improves cure rate at the expense of increased toxicity

CNS cytotoxic drugs penetrate poorly into the CNS. As leukaemic cells
in this site may survive effective systemic treatment, additional treatment
with intrathecal chemotherapy is used to prevent CNS relapse.

Continuing therapy chemotherapy of modest intensity is continued over
a relatively long period of time, up to 3 years from diagnosis. Co-
trimoxazole prophylaxis is given routinely to prevent pneumocystis carinii
pneumonia.

Treatment of relapse high dose chemotherapy, usually with total body
irradiation and bone marrow transplantation, is used as an alternative to
conventional chemotherapy after a relapse.


5. Be able to demonstrate an understanding of tumour staging and
prognostic factors and their influence on treatment selection, and trials
based approaches to therapy

Prognostic factors

Prognostic Factor High-risk Features
Age <1 Year or >10 years
Tumour load (measured by WBC) >50 x 10
9
/L
Cytogenetic/molecular genetic
abnormalities in tumour cells
e.g. MLL rearrangement
Speed of response to initial
chemotherapy
Persistence of leukaemia blasts in the
bone marrow
Minimal residual disease assessment
(MRD) (submicroscopic levels of
leukaemia detected by PCR)
High
Gender Male
Spread CNS involvement

Apparently ALL is not staged but rather grouped into high or low risk by
the above table. The tumour cells can however be classified:
L1 small uniform cells
L2 large varied cells
L3 large varied cells with vacuoles

Different forms of ALL require different approaches to treatment. The
typical treatment has been mentioned. With a T-cell ALL the addition of
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cyclophosphamide and intensive treatment with asparaginase is
beneficial. Mature B-cell needs treating like a lymphoma with short-term
intensive chemotherapy including high dose methotrexate.


Iron Deficiency Anaemia

1. Know the normal physiological changes affecting blood count data from
neonate to adolescent of all cell types (red, white and platelets)

Haemopoiesis is the process which maintains lifelong production of
haemopoietic blood cells. The main site of haemopoiesis in fetal life is the
liver, whereas throughout postnatal life it is the bone marrow. All
haemopoietic cells are derived from pluripotent stem cells which are
crucial for normal blood production. The most important difference
between fetal and postnatal life, in regards to haemopoiesis, is the
changing pattern of haemoglobin. Fetal haemoglobin (HbF) is made of two
alpha units and two gamma units and has a higher affinity for oxygen
then adult haemoglobin HbA which is made of two alpha units and two
beta units. HbF is gradually replaced by HbA in the first year of life and by
one the percentage of remaining HbF is very low.

At birth the Hb in term infants is high, 14-21.5 g/dl, to compensate for
the low oxygen concentration in the fetus. The Hb falls over the first few
weeks, mainly due to red cell production, reaching a value of around 10
g/dl at 2 months of age. Stores of iron, folic acid and vitamin B12 in term
and preterm infants are adequate at birth. However these stores are
lower in preterm infants so are quickly depleted in the first few months of
life. White blood cell counts in neonates are higher (10-20 x 10
9
/l
compared with 4.5-13) than in older children but platelet count is similar
to that of an adult (150-450 x 10
9
/l).

Anaemia is defined as an Hb level below the normal range and as these
ranges vary with age the anaemia can be defined as:
Neonate: Hb <14
1-12 months: Hb <10
1-12 years: Hb <11
Anaemia may result from reduced red cell production, increased red cell
destruction or blood loss.


2. Be able to explain the reasons for the physiological changes in
haemoglobin concentration with respect to growth, development and
nutrition from neonatal period through to adulthood

See above

Page | 292


3. Understand the importance of dietary factors affecting blood
composition including iron, folic acid and vitamin B12

Iron deficient anaemia may be caused by inadequate intake,
malabsorption or blood loss (rare). It is common in infants because
addition iron is required for the increase in blood volume accompanying
growth and to build up the childs iron stores. Iron can come from breast
milk (50% absorbed by far the best source), formula, cows milk or
solids. Iron deficiency may develop due to a delay in weaning beyond 6
months. Iron is best absorbed with vitamin c and without tannin from tea
(or red wine!).

Clinical features are usually not present until below 6-7 g/dl at which
point the child will tire easily and feed more slowly than usual. They may
appear pale but this is an unreliable sign unless confirmed by the
conjunctiva, tongue or palmar creases. Some children have pica which is
the inappropriate eating of non-food materials.

Most management is dietary advice and oral supplementation if needed. If
there is still not a gain then malabsorption should be investigated. The
need of a blood transplant is incredibly rare.

Folate is vital as it provides the constituents to produce red cells and
without it then the body cannot make enough cells so a macrocytic
megaloblastic anaemia occurs. B12 is also vital for DNA synthesis so will
have a similar effect if there is a deficiency.


4. Be able to explain the changes in lymphocytes and neutrophil counts
from neonatal period to adulthood and how they might be used to detect
infection, immunodeficiency states and malignant disorders of the blood

As mentioned above the counts will drop slightly with age. If they are
below the reference values then there may be immunodeficiency. If they
are above reference values then there may be an infection and there can
be a malignant disorder of the blood with either of these presentations
but it is generally a drop in white cells.


ITP/Thrombocytopenia

1. Be able to describe the common ways that bleeding disorders present
in childhood as congenital (e.g. congenital ITP, haemophilia) or acquired
conditions (e.g. ITP or disseminated intra-vascular coagulation)

Page | 293

Thrombocytopenia is a platelet count <150 x 10
9
/L. The risk of bleeding
depends on the platelet level below this. At <20 the risk of bleeding
spontaneously is high. At 20-50 the risk of excess bleeding during trauma
or surgery is increased. At 50-150 there is a low risk of bleeding unless
there is a major operation or serious trauma. This condition may result in
bruising, petechiae, purpura and mucosal bleeding (epistaxis, bleeding
gums etc). Major haemorrhage in the form of GI bleeds or intracranial
bleeds are much less common.

Haemophilia will be covered in its own objective

Immune thrombocytopenia (ITP)

This is a condition that can be both congenital and acquired. It is the
commonest form of thrombocytopenia in children with an incidence of 4 in
100,000 children per year. It is usually caused by the destruction of
circulating platelets by anti-platelet IgG autoantibodies. The reduce
platelet count may be accompanied by a compensatory increase in
megakaryocytes in the bone marrow.

Most children present between the ages of 2 and 10 years with onset
often 1-2 weeks after viral infection. In the majority of children there is a
short history of days or weeks. Affected children develop petechiae,
purpura and/or superficial bruising. It can cause epistaxis and other
mucosal bleeding but profuse bleeding is uncommon, despite the fact that
the platelet count often falls below 10. Intracranial bleeding is a rare
complication but serious, affected 0.1-0.5%. ITP is a diagnosis of
exclusion and can also be caused by a congenital syndrome in children.
Any atypical features such as anaemia, neutropenia, hepatosplenomegaly
or marked lymphadenopathy should prompt a bone marrow investigation
to exclude acute leukaemia or aplastic anaemia. SLE should also be
considered. However if features are all typical then a bone marrow
examination is not needed.

In about 80% of children the disease is acute, benign and self-limiting,
usually remitting spontaneously within 6-8 weeks. Most children can be
managed at home and do not require admission. However treatment
should be given if there is evidence of major bleeding or persistent minor
bleeding. Treatment options include oral prednisolone, IV anti-D or IVIG.
Platelet transfusions are reserved for life threatening haemorrhage as
they only work for a few hours.

Chronic IPT occurs in 20% and is where the platelet count remains low for
over 6 months. Mostly supportive treatment is given unless bleeding is
excessive. Again SLE should be screened for and finally a splenectomy
can help if all else fails.

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Disseminated intravascular coagulation

See below section on DIC

2. Be able to outline the principles of acute and chronic management of
bleeding disorders of childhood dependent upon their cause

The management of most bleeding disorders (both acute and chronic) has
been mentioned above or in the haemophilia section below. However I will
mention von Willebrand disease (vWD) and how to differentiate the
conditions from each other using the history.

Von Willebrand disease

Von Willebrand disease results from either a quantitative or qualitative
deficiency in von Willebrand factor (responsible for platelet adhesion and
as a carrier protein for factor VIII). This causes a defective plug formation
and since vWF is a carrier protein for factor eight, patients with vWD also
are deficient for this factor. There are many different mutations and the
inheritance is usually dominant. The commonest subtype, type 1 (60-
80%), is usually fairly mild and is often not diagnosed until puberty or
adulthood. Clinical features are bruising, prolonged bleeding after surgery
and mucosal bleeding. Spontaneous soft tissue bleeding is uncommon.

Treatment depends on severity but can be treated with DDAVP which
causes secretion of both factor eight and vWF into the plasma. Use in
caution in under 1 year as it can cause hyponatraemia and seizures if fluid
intake is not adequate. More severe forms need treating with plasma
derived factor eight. IM injections, aspirin and NSAIDs should all be
avoided.

Acquired disorders of coagulation

The main acquired conditions are haemorrhagic disease of the newborn
(vitamin K deficiency), liver disease, ITP and DIC. Inadequate intake,
malabsorption or vitamin K antagonists can all be a cause.

Differentiating

Age of onset
Neonate 20% of haemophilias present here
Toddler haemophilias may present when starting to walk
Adolescent vWD with menorrhagia

Family history
If all boys then suggests haemophilia

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Bleeding history
If bleeding is ok in some situations then it suggests a bleeding
tendency rather than an inherited disorder.
Drug history
NAI

Pattern of bleeding
Mucous membranes and skin platelet disorders or vWD
Bleeding into muscles or joints haemophilia
Scarring and delayed haemorrhage suggestive of disorders of
connective tissue


3. Offer children (or their carers) with low platelet counts health advice
relating to their condition

See above for specific information but it is generally to avoid injury, know
the available treatments and have an action plan if severe haemorrhage
occurs.


Haemolytic Anaemia

1. Be able to describe the common presentation of haemolysis during
childhood and the selection of tests to identify haemolysis as a
phenomenon

In haemolytic anaemia there is a reduced red cell lifespan due to
increased intravascular and extravascular (spleen and liver) destruction of
RBC, there is shortened RBC lifespan and when the bone marrow is
unable to compensate any further there is anaemia. The signs of anaemia
are reticuloendothelial hyperplasia (leading to hepatosplenomegaly),
unconjugated bilirubin increase and increased urinary urobilinogen. In
neonates autoimmune haemolytic anaemia is common but in children the
most common cause are red cell membrane disorders, red cell enzyme
disorders and haemoglobinopathies.

Hereditary spherocytosis

1 in 5000 live births with 25% spontaneous and 75% autosomal
dominant. The mutation in the genes encoding RBC skeletal proteins
causes the RBC to lose some of its membrane as it goes through the
spleen. The cell becomes spheroidal and is destroyed in the
microvasculature of the spleen.
Signs and symptoms jaundice, anaemia, splenomegaly, gallstones
(due to increased bilirubin) and may present with aplastic crisis
Investigations a blood film
Page | 296

Management folate supplementation in mild disease. In severe
forms a splenectomy should be considered.

G6PD deficiency

Commonest red cell enzyme problem worldwide and has a high
prevalence in those from central Africa. It is an x-linked condition but
female carriers have about 50% function and are clinically normal. G6PD
usually stops oxidative damage to the cell.
Signs and symptoms neonatal jaundice in the first 3 days or with
acute haemolysis precipitated by infection, drugs, broad beans etc.
There may also be fever, malaise and haemoglobin in the urine.
Investigations Between episodes of haemolysis the patient is
normal. Measurement of the G6DP activity in cells is diagnostic.
Management awareness to avoid certain drugs and foods. In some
acute instances exchange transfusion may be needed.

Pyruvate Kinase Deficiency

2
nd
most common cause of haemolytic anaemia and is due to a lack of an
enzyme vital in the final stage of glycolysis leading to a decrease in ATP.
This causes the cell to become more rigid and be destroyed in the spleen.

Thalassaemia and Sickle cell disease will be talked about in their own
objectives


Haemophilia

1. Understand the genetics, presenting features and management

This is the commonest severe inherited coagulation disorder and consists
of haemophilia A and B. Both have x-linked recessive inheritance. In
haemophilia A there is a factor 8 deficiency with a frequency of 1 in 5000,
and in haemophilia B there is a factor 9 deficiency with a frequency of 1 in
30,000 male births. Two-thirds have a family history.

The disorder can be graded into mild, moderate or severe depending on
the factor percentage (<1% severe, 1-5% moderate and >5-40% mild).
The hallmark is recurrent spontaneous bleeding into joints and muscles
which can lead to crippling arthritis if not properly treated. Most cases
present at the end of the first year of life when walking starts. Almost
40% present in the neonatal period with intracranial haemorrhage, oozing
from the heel prick or post circumcision.

Treatment is recombinant factor 8 or 9 depending on type A or B. It is
given my prompt IV infusion whenever there is bleeding. Raising the level
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to 30% is sufficient to treat minor bleeds, but it needs to be 100% for
surgery and maintained at 30-50% for 2 weeks after. Injections need to
be given every 12 hours or by infusion. Parents and children can be
taught to administer at home. Prophylactic factor 8 has been shown to be
beneficial in children by giving better joint function in later life.
Desmopressin may allow for mild haemophilia (stimulates factor 8
release) to be managed without the use of blood products. Specialised
physiotherapy support is needed to preserve muscle strength and avoid
damage from immobilisation.


Lymphoma

1. Describe the organ/system of origin, the typical signs and symptoms
and common clinical associations

Lymphoma is the neoplastic proliferation of cells in the lymphatic system
such as nodes, spleen and liver. They form solid tumours and can be
divided into Hodgkins and non-Hodgkins lymphoma. NHL is more
common in childhood whereas Hodgkins disease is more common in
adolescence.

Non-Hodgkins lymphoma predominately affects the lymph nodes. It
typically affects younger children. Presentation depends on the type of
disease, most T-cell malignancies can present as either NHL or ALL
(thought to be a spectrum of disease) characterised by mediastinal mass
(may cause superior vena cava obstruction) and bone marrow infiltration.
B cell malignancies present more commonly as NHL with localised lymph
node disease in the head, neck or abdomen (pain and intussusception).
Treatment is multi-agent chemotherapy. The majority of patients do well
and survival is over 80% for both T and B cell subtypes.

Hodgkins lymphoma is defined as the presence of reed-sternberg cells. It
is uncommon in those who are pre-pubertal and usually presents as
painless lymphadenopathy (larger and firmer than benign
lymphadenopathy seen in children), frequently in the neck. Clinical
presentation is often long and systemic symptoms (anorexia, weight loss
etc) are uncommon, even in advanced disease. Combination
chemotherapy gives a cure rate of over 80%


2. Outline the main features and differences of Non-Hodgkins (NHL T and
B cell) and Hodgkins lymphoma

Hodgkins lymphoma has reed-sternberg cells
Hodgkins lymphoma often starts in the upper body
Page | 298

Hodgkins spreads very slowly and is very receptive to
chemotherapy and radiotherapy


3. Be aware of the long term complications of tumour treatment as a
consequence of chemotherapy, radiotherapy and surgery including how
development, growth, puberty and fertility can be affected.

Side effects of chemotherapy include hair loss, anaemia, infection,
bruising, sore mouth, nausea, vomiting, mood changes, irritability and
weight gain.

In the long term it can cause delayed puberty, reduced fertility, reduced
growth. Neurotoxicity, hepatotoxicity, renal toxicity, cardiotoxicity,
pulmonary toxicity, secondary cancer and psychological effects.


Neuroblastoma

1. Describe the organ/system of origin, the typical signs and symptoms
and common clinical associations

Neuroblastoma and related tumours arise from neural crest tissue in the
adrenal medulla and sympathetic nervous tissue. It is a biologically
unusual tumour in that spontaneous regression sometimes occurs in very
young infants. There is a spectrum of disease from the benign to the
highly malignant. Neuroblastomas are most common before the age of 5.

At presentation most children have an abdominal mass but the primary
tumour can lie anywhere along the sympathetic chain from the neck to
the pelvis. Classically the abdominal primary is of adrenal origin but at
presentation the tumour mass is often large and complex, crossing the
midline and enveloping major blood vessels and lymph nodes.
Paravertebral tumours may invade through adjacent intervertebral
foramen and cause spinal cord compression. Over the age of 2 years,
clinical symptoms are mostly from metastatic disease, particularly bone
pain, bone marrow suppression causing weight loss, and malaise. Other
common symptoms include a limp and hepatomegaly.

Prognosis is poor the metastatic disease and is little over 30%.


Sickle Cell Disease

1. Be able to explain how the genetic mutations of haemoglobin lead to
the signs and symptoms of homozygous and heterozygous states of sickle
cell disease.
Page | 299


This is now the commonest genetic disorder in children in many European
countries. Sickle cell is the collective name given to Haemoglobinopathies
in which HbS is inherited. The mutation caused leads to a change in an
amino acid from glutamine to valine. Sickle cell disease is most common
in patients whose parents are black and originate from tropical Africa or
the Caribbean. There are three main types of sickle cell disease and the
sickle trait:
Sickle cell anaemia (HbSS) patients are homozygous for HbS, i.e.
virtually all their Hb is HbS. They have small amounts of HbF and no
HbA because they have the sickle mutation in both B-globin genes.
HbSC disease (HbSC) affected children inherit HbS from one
parent and HbC from the other parents (HbC is formed as a result
of a different point mutation in B-globin) so they also have no HbA
because they have no normal B-globin genes
Sickle B-thalassaemia affected children inherit HbS from one
parent and B-thalassaemia trait from the other. They have no
normal B-globin genes and most patients can make no HbA and
therefore have similar symptoms to those with sickle cell anaemia.
Sickle trait inheritance of HbS from one parent and a normal B-
globin gene from the other parent, so approximately 40% of the
haemoglobin is HbS. They do not have sickle cell disease but are
carriers. They are asymptomatic and are only identified as a result
of blood tests.

In all forms of sickle cell disease, HbS polymerises within red blood cells
forming rigid tubular spiral bodies which deform the red cells into a sickle
shape. Irreversibly sickled red cells have a reduced life span and may be
trapped in the microcirculation, resulting in blood vessel occlusion and
therefore ischaemia in an organ or bone. This is exacerbated by low
oxygen tension, dehydration and the cold. Clinical manifestations vary, as
does severity. HbSS is the most severe form.

Clinical features:
Anaemia moderate (6-10 g/dl) with clinically detectable jaundice
from chronic haemolysis
Infection increased susceptibility to pneumococci and
H.influenzae. This is due to hyposplenism secondary to
microinfarction in the spleen.
Painful crises vaso-occlusive crisis causing pain may affect many
organs with varying frequency and severity but commonly the
hands and feet. The bones of the limbs and spine are most common
but this can also affect the chest and produce the need for
ventilation. Exposure to cold, dehydration, excessive exercise,
stress, hypoxia or infection can all exacerbate symptoms
Acute anaemia Sudden drop in haemoglobin from haemolytic
crisis (infection), aplastic crisis (parovirus) and sequestration crisis
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(sudden splenic or hepatic enlargement, abdominal pain and
circulatory collapse from accumulation of sickle cells in the spleen
Priapism needs treating promptly or there may be later erectile
dysfunction
Splenomegaly common in younger children than older

Long term problems:
Short stature and delayed puberty
Stroke and cognitive problems
Adenotonsillar hypertrophy
Cardiac enlargement from chronic anaemia
Heart failure from uncorrected anaemia
Renal dysfunction
Pigmented gallstones
Leg ulcers uncommon in children
Psychosocial problems education and behavioural difficulties

Management

Prophylaxis with full immunisation and daily oral penicillin throughout
childhood. Once daily folic acid is needed due to the increased demand.
Vaso-occlusive crises should be avoided by avoiding the cold,
dehydration, exercising excessively, undue stress or hypoxia. Treatment
of an acute crises should be analgesia and good hydration with oxygen if
needed.

Prognosis varies due to infection and around 3% die during childhood
from infection. Around 50% of patients with the most severe form will die
before 40.


2. Understand how it presents through population screening, at
symptomatic diagnosis and with intercurrent problems during chronic
illness management

Much of this is mentioned above but I will talk about prenatal diagnosis
and screening.

Many countries with a high prevalence of haemoglobinopathies, including
the UK, perform neonatal screening on dried blood spots (Guthrie test)
collected in the first week of life. Early diagnosis of sickle cell disease
allows penicillin prophylaxis to be started in early infancy instead of
awaiting clinical presentation, possibly due to infection. Prenatal diagnosis
can be carried out by chorionic villus sampling at the end of the first
trimester if parents wish to choose this option to prevent the birth of an
affected child.

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Thalassaemia

1. Be able to explain how the genetic mutations of haemoglobin lead to
the signs and symptoms of homozygous and heterozygous states of
thalassaemia with particular attention to how they present through
population screening, at symptomatic diagnosis and with intercurrent
problems during chronic illness management

B-thalassaemias occur most often in people from the Indian subcontinent,
Mediterranean and Middle East. In the UK most affected children are born
to parents from the Indian subcontinent. In the past many were born to
Greek Cypriots, but this has become uncommon through active genetic
counselling within their community. There are two main types of B-
thalassaemia, both of which are characterised by a severe reduction in
the production of B-globin (and thereby reduction in HbA production). All
affected individuals have a severe reduction in B-globin and disease
severity depends on the amount of residual HbA and HbF production.
B-thalassaemia major this is the most severe form of the disease.
HbA (alpha 2, beta 2) cannot be produced because of the abnormal
B-globin gene.
B-thalassaemia intermedia this form of the disease is milder and
of variable severity. The B-globin mutations allow a small amount of
HbA and/or a large amount of HbF to be produced.

Clinical features:
Severe anaemia, which is transfusion dependent from 3-6 months
of age, and jaundice
Failure to thrive/growth failure
Extramedullary haemopoiesis, prevented by regular blood
transfusions. In the absence of regular blood transfusions the
patient develops hepatosplenomegaly and bone marrow expansion;
the latter leads to the classical facies with maxillary overgrowth and
skull bossing.

Management: this is fatal without treatment so all patients are given
lifelong monthly blood transfusions. The aim is to keep haemoglobin
above 10 g/dl in order to reduce growth failure and prevent bone
deformation. Repeat transfusions can cause chronic iron overload which
can cause cardiac failure, liver cirrhosis, diabetes, infertility and growth
failure. Therefore all patients are treated with iron chelation from the age
of 2-3 years. Patients who comply have a 90% chance of reaching 40
years. An alternative option is bone marrow transplant which is curative.
This is reserved for patients with a compatible sibling where there is a
95% chance of success.

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Prenatal diagnosis: in parents who are both heterozygous there is a 1 in 4
chance of passing this condition to their child and a 50% chance of giving
them carrier status.

B-thalassaemia trait heterozygotes are usually asymptomatic. The red
cells are hypochromic and microcytic. Anaemia is mild or absent with a
disproportionate reduction in MCH and MCV. This can cause confusion
with iron deficiency anaemia but here the ferritin stores will be normal.

Alpha-thalassaemias involves the alpha-globin gene. Healthy individuals
have 4 alpha-globin genes. Having none of these causes alpha-
thalassaemia major, it mainly occurs in families of South East Asian origin
and presents in mid trimester with fetal hydrops (oedema and ascites),
from fetal anaemia, which is always fatal in utero, or within hours of
delivery. The only chance of long term survival is intrauterine transfusion
until birth and lifelong therapy after. With 3 deletions the anaemia is mild
to moderate and with 1 or 2 deletions the disease is asymptomatic.


Wilms Tumour

1. Describe the organ/system of origin, the typical signs and symptoms
and common clinical associations

This is also called a nephroblastoma , originates from embryonic renal
tissue and is the commonest renal tumour of childhood. Over 80% of
patients present before 5 years of age and it is very rarely seen after 10
years of age.

Most children present with a large abdominal mass, often found
incidentally in an otherwise well child. Other clinical features include
abdominal pain, anorexia, anaemia, haematuria and hypertension.

Investigations include an ultrasound and/or CT/MR and show a
characteristic intrinsic renal mass distorting normal structures. Staging is
to assess for distant metastasis (usually to the lung) along with initial
tumour resectability and function of the contralateral kidney.

In the UK children receive initial chemotherapy followed by delayed
nephrectomy. After which the tumour is staged histologically and
subsequent treatment is planned according to the surgical and
pathological findings. Prognosis is good with more than 80% of all
patients being cured. Cure rate is 60% if with metastasis but recurrence
carries a poor prognosis.

Wilms tumour is associated with overgrowth syndromes and trisomy 18.

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Bone tumours

1. Be aware of the features of soft tissue sarcomas, osteosarcoma and
Ewings tumour

Soft Tissue Sarcomas

Rhabdomyosarcoma is the most common form of soft tissue sarcoma in
childhood. The tumour is thought to originate from primitive
mesenchymal tissue and there are a wide variety of primary sites,
resulting in varying presentation and prognosis.

The head and neck are most commonly involved (40%) causing proptosis,
nasal obstruction or blood stained nasal discharge. Genitourinary tumours
may involve the bladder, paratesticular structures or the female
genitourinary tract. Symptoms include dysuria and urinary obstruction,
scrotal mass or blood stained vaginal discharge. Metastatic disease (lung,
liver, bone or marrow) is present in around 15% of patient at diagnosis
and is associated with a particularly poor prognosis.

Biopsy and full radiological assessment of primary disease and any
evidence of metastasis is needed. Management is multimodality treatment
with chemotherapy, radiotherapy and surgery and varies depending on
size, site and extend of disease. Overall cure rate is approximately 65%.

Bone tumours

Malignant bone tumours are uncommon before puberty. Osteogenic
sarcoma is more common than Ewing sarcoma but Ewing sarcoma is seen
more often in younger children. Both have a male predominance.

The limbs are the most common site. Persistent localised bone pain is the
characteristic symptom, usually preceding the detection of a mass, and is
an indication for early x-ray. At diagnosis most patients are otherwise
well.

Plain x-ray is followed by MRI and bone scans. A bone x-ray shows
destruction and variable periosteal new bone formation. In Ewing sarcoma
there is often a substantial soft tissue mass. Chest CT is used to assess
for lung metastases and bone marrow sampling to exclude marrow
involvement.

In both tumours the treatment involves the use of combination
chemotherapy given before surgery. Whenever possible, amputation is
avoided by using en bloc resection of tumours with endoprosthetic
resection. In Ewing sarcoma radiotherapy is also used in the management
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of local disease, especially when surgical resection is impossible or
incomplete, e.g. in the pelvis or axial skeleton.


DIC

1. Outline the main causes and the clotting abnormalities

This describes a disorder of coagulation pathway activation leading to
diffuse fibrin deposition in the microvasculature and consumption of
coagulation factors and platelets. The commonest cause is severe sepsis
or shock due to circulatory collapse e.g. meningococcal septicaemia or
extensive tissue damage from trauma or burns. DIC can be acute or
chronic. The predominant clinical features are bruising, purpura and
haemorrhage. DIC should be suspected when there is thrombocytopenia,
prolonged prothrombin time, prolonged APTT, low fibrinogen, raised
fibrinogen degradation products and D-dimers and microangiopathic
haemolytic anaemia. There is also usually a marked reduction in the
naturally occurring anticoagulants, protein C and S and antithrombin.

The most important part of management is to treat the underlying cause
(usually sepsis) whilst providing intensive care. Supportive care may be
provided by fresh frozen plasma, cryoprecipitate and platelets.
Antithrombin and protein C concentrates have also been used.


Retinoblastoma

1. Be aware of the common presenting features

Retinoblastoma is a malignant tumour of the retinal cells and, although
rare, it accounts for about 5% of severe visual impairment in children. It
may affect one or both eyes. All bilateral tumours are hereditary, as are
about 20% of unilateral cases. The retinoblastoma susceptibility gene is
on chromosome 13, and the pattern of inheritance is dominant, with
incomplete penetrance. Most cases present within the first 3 years of life.
Children from families with the hereditary form of the disease should be
screened regularly from birth.

The most common presentation of unsuspected disease is when a white
pupillary reflex is noted to replace the normal red one, or with a squint.
MRI and examination under anaesthetic are requires and tumours are
frequently multifocal.

The treatment am is to cure, yet preserve vision. Biopsy is not
undertaken and treatment is based on the ophthalmological findings.
Enucleation of the eye may be necessary for more advances disease.
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Chemotherapy is used, particularly in bilateral disease, to shrink the
tumour(s), followed by local laser treatment to the retina. Radiotherapy
may be used in advanced disease, but it is more often reserved for
treatment of recurrence. Most patients are cured, although many are
visually impaired. There is a significant risk of second malignancy
(especially sarcoma) among survivors of hereditary retinoblastoma.


Splenectomy

1. Be able to discuss the justification of and the risks and precautions
necessary to take prior to splenectomy.

A variety of chronic illnesses, such as hereditary spherocytosis, lymphoma
or idiopathic thrombocytopenic purpura (IPT) may make it necessary to
remove a spleen. While rare, trauma to the spleen with uncontrolled
bleeding can create a situation where emergency spleen removal is
necessary. Prior to splenectomy immunisations are given to prevent
pneumococcus, Hib, meningococcus and influenza. Low dose antibiotics
are likely to be needed for life after this operation and a high dose course
should be kept around the house just in case. There is also a particularly
high risk of developing malaria in patients without a spleen so caution
should be taken when travelling abroad. It is recommended that the child
wears a special bracelet or necklet containing this medical information.


Endocrinology/Growth]

Hypoglycaemia

1. Understand the diagnostic criteria and causes of hypoglycaemia from
infancy through to adolescence

This topic is broken up into neonatal hypoglycaemia and then
hypoglycaemia after this period.

Neonatal

Hypoglycaemia is particularly likely in the first 24 hours of life in babies
with IUGR, who are preterm, born to mothers with diabetes mellitus, are
large for date, hypothermic, polycythaemic or ill for any reason. Growth
restricted and preterm infants have poor glycogen stores, whereas the
infants of a diabetic mother have sufficient glycogen stores but
hyperplasia of the islet cells in the pancreas causes high insulin levels.
Symptoms are jitteriness, irritability, apnoea, lethargy, drowsiness and
seizures, sweating, tachycardia, tachypnoea and coma.

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There is no agreed definition of hypoglycaemia in the newborn. Many
newborn babies tolerate low blood glucose levels in the first few days of
life, as they are able to utilise lactate and ketones as energy stores.
Recent evidence suggest that blood glucose levels above 2.6 mmol/L are
desirable for optimal neurodevelopmental outcome, although during the
first 24 hours after birth many asymptomatic infants transiently have
blood glucose levels below this. Long term symptomatic hypoglycaemia
can cause permanent neurological disability.

Children

After the neonatal period hypoglycaemia is uncommon in non-diabetics. It
is often defined as a plasma glucose <2.6 mmol/L, although the
development of clinical features will depend on whether other energy
substrates can be utilised. Clinical features include sweating, pallor, and
CNS signs (irritability, headache, seizures and coma). If persistent then
epilepsy or severe learning difficulties may develop. The risk is highest in
early childhood when there is the most rapid brain growth.

Infants have a high energy requirement and relatively poor reserves of
glucose from Gluconeogenesis and glycogenesis. Infants should hence
never be starved for more than 4 hours e.g. preoperatively.

Causes in children after the neonatal period include:
Fasting probably the most common cause
Insulin excess excess exogenous insulin (e.g. diabetes), beta-cell
tumours (insulinoma), drug induced (sulphonylurea), autoimmune
(insulin receptor antibodies) and beckwith syndrome
Without hyperinsulinaemia liver disease, ketotic hypoglycaemia of
childhood, inborn error of metabolism e.g. glycogen storage
disorders, and hormonal deficiency (low GH, ACTH, Addison disease,
and congenital adrenal hyperplasia)
Galactosaemia
Fructose intolerance
Maternal diabetes
Hormonal deficiency
Aspirin/alcohol poisoning

Ketotic hypoglycaemia is a poorly defined entity in which young children
readily become hypoglycaemic following a short period of starvation,
probably due to limited reserves for gluconeogenesis. The child is often
short and thin and the insulin levels are low. Regular snacks and extra
glucose drinks are used as management and children should grow out of
this.

Transient neonatal hypoglycaemia is common in neonates who have been
exposed to high insulin levels in utero. In contrast, recurrent severe
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neonatal hypoglycaemia may be cause by persistent hypoglycaemic
hyperinsulinism of infancy. This is due to a dysregulation of insulin release
by the islet cells of the pancreas.


2. Outline the initial treatment and investigations of hypoglycaemia

Hypoglycaemia can usually be prevented by early and frequent milk
feeding. In infants at increased risk of hypoglycaemia, blood glucose is
regularly monitored at the bedside. If an asymptomatic infant has two low
glucose values (<2.6) in spite of adequate feeding, or one very low value
(<1.6) or becomes symptomatic then glucose is given by IV infusion
aiming to maintain glucose at 2.6 mmol/L. The concentration of IV
dextrose may need to be up to 20%. Abnormal blood glucose results are
confirmed in the laboratory. High IV infusion should be given via a central
venous catheter to avoid extravasation. Usually IV dextrose 2-4ml/kg of
10% dextrose is given. Investigations should also include GH, cortisol,
insulin, c-peptide, fatty acids, ketones, glycerol, lactate and Pyruvate.

If there is a failure to administer therapy or a reduced response then IM
glucagon can be given (0.5-1mg). Corticosteroids may also be used if
there is a possibility of hypopituitarism or hypoadrenalism.


IDDM/DKA

1. Outline the epidemiology of diabetes in children

The incidence of diabetes in children has increased steadily over the last
20 years and now affects around 2 per 1000 children by the age of 16
years. It has been estimated that the incidence of childhood diabetes will
double by 2020 in developed countries. There is considerable racial and
geographical variation with the condition being more common in northern
countries such as Scotland and Finland. Almost all children with type 1 DM
require insulin from the outset. An identical twin of a diabetic has a 30-
40% change of developing the disease and the risk is 1/40 if the father is
affected or 1/80 if the mother is.


2. Be aware of the associated problems/diseases

I will just talk about acute things here and more chronic problems in the
complications section.

Children usually present with only a few weeks of polyuria, excessive
thirst and weight loss; young children may also develop secondary
nocturnal enuresis. Most children are diagnosed at this early stage and
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advanced diabetic ketoacidosis has become an uncommon presentation.
Less common symptoms include enuresis, skin sepsis and candida
infection.

This is diagnosed by a glucose >11.1 mmol/L, glucosuria and ketonuria. If
there is doubt then a fasting glucose should be >7 mmol/L to be positive,
or a raised HbA
1c
can be checked. Type 2 diabetes should be suspected if
there is a family history, the child is from the Indian subcontinent, and in
severely obese children with signs of insulin resistance.


3. Understand the principles of non-medical and medical treatment

Initial management depends on the patients condition but may require
hospital admission and treatment. Most children are alert and can be
managed by subcutaneous insulin alone. IV fluids are given if there is
vomiting or dehydration. An intensive educational program is then given
which includes the basic understanding, injection techniques, diet,
adjustments of insulin for sickness or exercise, blood glucose checks,
recognition of hypoglycaemia, where to get help, support groups and
psychological support.

Insulin

Insulin is modified to be human and is in concentrations of 100units/ml.
There are four main types of insulin:
Rapid acting rapid onset, short duration
Short acting onset in 30-60 minutes and peak at 2-4 hours with
duration of 8 hours (given 15-30 minutes before a meal)
Intermediate acting onset after 1-2 hours and peak at 4-12 hours
Predetermined preparations of short and intermediate acting insulin
Insulin can be administered by an infusion or by pump or injection. It is
given subcutaneously in the upper arm, anterior and lateral thigh,
buttocks and abdomen. To avoid complications (i.e. lipohypertrophy) the
skin should be pinched and the needle inserted at 45 degrees, with sites
being rotated frequently.

Most infants are started on an insulin pump or 3-4 times/day injection
regimen (basal bolus) with short acting insulin before snacks (bolus) and
a long acting insulin in the evening (basal). Normally requirements are
0.5-1 U/kg in children but this can increase to over 2 U/kg/day in
puberty.

Diet

Should be matched to the insulin regimen and the aim is to maintain
control whilst getting good growth. High complex carbohydrates are
Page | 309

recommended and relatively low fat content (<30% of calories). The diet
should be high in fibres and avoidance of foods that will cause rapid sugar
highs.

Blood glucose monitoring

Regular monitoring is important as insulin regimens can be changed
accordingly. The aim is to maintain blood glucose at 4-6 mmol/L but in
practice (to avoid hypoglycaemia) this is 4-10 in children and 4-8 in
adults. Subcutaneous glucose monitoring is being developed but is not yet
universally used. Measuring HbA
1c
is useful to check long term control
over 6-12 weeks and should be checked at least 3 times per year. The
level is related to long term risk and this is an exponential relationship
(i.e. a small increase in level equals a big increase in risk). The aim is to
keep the level below 7.5% or <58 mmol/mol.

Hypoglycaemia

Children usually develop well defined symptoms when blood glucose
drops below 4 mmol/L. These are the same as for hypoglycaemia
(mentioned above) and will be treated in the same way. Firstly a hypo
remedy should be tried such as a sugary drink (if possible) before moving
onto IM glucagon. Once a sugary drink has given another complex
carbohydrate should be given to maintain control.

Adolescence

Adherence is a massive problem here along with regular blood glucose
monitoring. This can be due to smoking, alcohol, drugs or due to body
image. This may be helped by establishing clear short-term goals, an
enthusiastic effort to improve long term control, a united team approach
and positive peer group pressure from activities. As mentioned previously,
in puberty the level of insulin needed will rise due to antagonism by GH,
oestrogen and testosterone.


4. Appreciate the need for multi-disciplinary team involvement

Heavily involved in all areas and this should be clear from the information
above and below.


5. Outline the short and long term complications

The aims of long term management are:
Normal growth and development
Maintaining a normal home and school life
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Good diabetic control through knowledge and technique
Encourage self reliance but with adult supervision initially
Avoidance of hypoglycaemia
Prevention of long term complications and maintenance of good
glucose control

Problems in diabetic control:
Eating too many sweets at parties or at school
Infrequent or unreliable blood glucose monitoring (sometimes made
up to impress doctor)
Illness these are common in the young and can affect appetite as
well as increase insulin need. Therefore the dose needs titrating
appropriately.
Exercise prolonged exercises requires a decrease in insulin and
more glucose, especially before going to sleep
Eating disorders common in young girls
Family disturbances divorce etc
Poor motivation and support

Prevention of long term complications

Meticulous control when young helps reduce the risk of diabetic
retinopathy or nephropathy and also slows progression. A good early
control can also help compensate if control deteriorates later on in life
(lower risk of complications). The complications that need assessment for
later life are:
Growth and pubertal development some delay may occur and
obesity is common, particularly in girls.
Blood pressure check once a year for hypertension
Renal disease screen for microalbuminuria yearly
Eyes retinopathy is rare in children but should be checked 5 years
after diagnosis or from the onset of puberty
Feet encourage good care and avoid tight shoes or infections by
treating early
Others coeliac disease and thyroid disease are commonly
associated with type 1 DM and are easily missed. There should also
be a low threshold for investigating other autoimmune disorders.


6. Describe the presenting features and initial management of DKA

Presentation is late with acetone on the breath, vomiting, dehydration,
abdominal pain, hyperventilation due to acidosis, hypovolaemic shock,
drowsiness, coma and death.

Essential early investigations include blood glucose (bedside and
laboratory), blood ketones, U&Es (dehydration), blood gas (acidosis),
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urinary glucose and ketones, evidence of precipitating cause i.e. infection
(blood and urine cultures), cardiac monitor for t-wave changes, due to
hypokalaemia, and weight.

Management priorities are as follows:
Fluids If in shock then give initial resuscitation with normal saline.
Dehydration needs correcting gradually over 48-72 hours as rapid
rehydration can lead to cerebral oedema. Monitor fluid input/output,
electrolytes, acid-base status, neurological state and consider
central venous line and urinary catheter if shocked.
Insulin infusion of 0.05-0.1 U/kg/hour after 1 hour, titrating
according to blood glucose. Do not give a bolus and monitor
regularly. Aim for a reduction of 2 mmol/h of blood glucose as rapid
reduction is dangerous. Change to 0.18% saline or 4% dextrose
after 24 hours when the blood glucose has fallen to 14 mmol/L to
avoid hypoglycaemia
Potassium although initially high, it will fall following treatment
with insulin and rehydration. Replacement is needed as soon as
urine is passed and continuous cardiac monitoring is important.
Acidosis avoid bicarbonate unless the child is shocked or not
responding to therapy. This should correct with fluids and insulin
but monitor capillary ketones.
Re-establish oral fluids, diet and subcutaneous insulin do not stop
infusion until 1 hour after subcutaneous insulin has been given
Identification and treatment of an underlying cause


Constitutional Delay In Growth

1. Be able to exclude pathological causes of short stature

Short stature is defined as a height below the 2
nd
centile or 0.4
th
centile.
Most of these children will be normal, though short, with short parents,
but the further the child is below these centiles, the more likely it is that
there will be a pathological cause. However the rate of growth may be
abnormal low before a childs height falls below these values. Measuring
height velocity is a sensitive indictor of growth failure. A height velocity
persistently below the 25
th
centile is abnormal and children will eventually
become short. The height centile must be compared to the weight centile
and an estimate of their genetic target centile and range calculated from
parental heights. There are many potential causes that will now be
mentioned.

Familial most short children have short parents but care needs to be
taken to ensure both parent and child do not have a genetic condition

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IUGR and extreme prematurity about a third of these children remain
short and GH treatment may be indicated

Constitutional delay of growth and puberty these children have delayed
puberty which is often familial, usually having occurred in the parent of
the same sex. It is commoner in males and is a variation of the normal
timing of puberty rather than an abnormal condition. It may be induced
by dieting or excessive exercise. A child will have delayed sexual changes
compared to peers and bone age would show moderate delay. The legs
will be long in comparison to the back. Eventually the target height should
be reached. Puberty can be started by androgens or oestrogen if needed.

Endocrine hypothyroidism, GH deficiency and steroid excess are
uncommon causes of short stature. They are associated with children
being relatively over weight,

Hypothyroidism this is usually caused by autoimmune thyroiditis during
childhood. This produces growth failure, usually with excess weight gain.
It can go undiagnosed for many years and cause short stature. When
treated, catch-up growth rapidly occurs but often with rapid entry into
puberty that can limit final height. Congenital hypothyroidism is usually
noted shortly after birth so will not have any long term effects on stature.

Growth hormone deficiency this is an isolated defect or secondary to
panhypopituitarism. Pituitary function may be abnormal in congenital
mid-facial defects or as a result of Craniopharyngioma, a hypothalamic
tumour or trauma such as head injury, meningitis and cranial irradiation.
In growth hormone deficiency the bone age is markedly delayed. Laron
syndrome is a condition due to defective growth hormone receptors
resulting in GH insensitivity.

Corticosteroid excess, Cushing syndrome usually iatrogenic. This effect
is reduced by alternative day therapy but some growth suppression may
be seen at even relatively low doses. Non-iatrogenic Cushing syndrome is
very rare in children and may be caused by pituitary or adrenal
pathology. Growth failure can be severe with excess weight gain although
these can resolve with withdrawal of treatment. If during puberty then
the effects can be permanent.

Nutrition/chronic illness a relatively common cause of abnormal growth.
These children are usually short and underweight. Inadequate nutrition
includes insufficient food, poor appetite or restricted diet. It can also be
due to an increased nutritional need due to disease. Chronic illnesses
which may present with short stature include coeliac disease, Crohn
disease and chronic renal failure.

Page | 313

Psychosocial deprivation physical and emotional deprivation can cause
shortness, delayed puberty and a child to be underweight. Children can
show catch up growth if placed in a nurturing environment.

Chromosomal disorder/syndromes Down syndrome, Turner syndrome
and Russell-Silver syndrome may present with short stature.

Extreme short stature there are a few rare conditions that cause
extreme short stature in children. These include absolute resistance to GH
and primordial dwarfism.

Disproportionate short stature confirmed by measuring sitting height,
subischial leg length (sitting height minus standing height), and limited
radiographic skeletal survey. Conditions with abnormal body proportions
are rare and may be cause by disorders of the formation of bone (skeletal
dysplasia). They include Achondroplasia and other short-limbed
dysplasias.


2. Recognise the important features of other conditions presenting with
short stature e.g. Russell-Silver syndrome

Russell-Silver syndrome is a disorder present from birth that involves
poor growth, low birth weight, short height and differences in the size of
the two sides of the body. Symptoms include arms and legs length
differences, cafe-au-lait spots, failure to thrive, delayed bone age, short
height, swelling of the fingers/toes, GI reflux and kidney problems.


3. Be able to plot a growth chart and compare measurements of height
with predicted height based on parental measures

This is calculated as the mean of the fathers and mothers height with
7cm added for the mid-parental target height for a boy and 7cm
subtracted for a girl. The 9
th
-91
st
centile range of this estimate is given by
+/-10cm in a boy and +/-8.5cm in a girl.


Delayed Puberty

1. Define abnormalities with pubertal development

First it is probably best to outline normal puberty. In females breast
development shows its first signs at 8.5-12.5 years. Public hair growth
and a rapid height spurt occur almost immediately after breast
development. Menarche occurs on average 2.5 years after the start of
puberty and signs that growth is coming to an end, with only around 5cm
Page | 314

height gain remaining. In males testicular enlargement occurs to >4ml
volume and is the first sign of puberty. Public hair growth follows
testicular enlargement usually between 10 and 14 years. A height spurt
occurs when the testicular volume is 12-15ml, after a delay of around 18
months. The height spurt in males occurs late and is often a great
magnitude than in females, accounting for the greater final average
height of males than females. In both genders there is acne development,
axillary hair, body odour and mood changes.

Delayed puberty is often defined as the absence of pubertal development
by 14 years of age in females and 15 years in males. In contrast to
precocious puberty the problem is more common in males, in whom it is
mostly due to constitutional delay in growth and puberty. This is often
familial, usually having occurred in the parent of the same sex. It may
also be induced by dieting or excessive exercise. These children have a
delay in puberty, height and bone maturation. Eventually the target
height will be reached as growth will continue for longer than their peers.

Causes of delayed puberty include:
Constitutional delay of growth and puberty
Low gonadotrophin secretion systemic diseases (e.g. CF, asthma,
crohns, anorexia), acquired hypothyroidism or hypothalamo-
pituitary disorders (intracranial tumours and growth hormone
insufficiency).
High gonadotrophin secretion chromosomal abnormalities, steroid
hormone enzyme deficiencies and acquired gonadal damage.


2. Outline basic investigations for delayed puberty

In boys an assessment should include pubertal staging (especially
testicular volume) and identification of chronic systemic disorders. In girls
karotype should be performed to identify Turner syndrome, and thyroid
and sex steroid hormones should be measured. The aims of management
are to identify and treat underlying pathology, ensure normal
psychological adaptation to puberty and adulthood, and to accelerate
growth if necessary.

If puberty is abnormally late or early then bone age measurements can
be taken by obtaining an x-ray of the hand and wrist. Pelvic ultrasound
may be used in females to assess uterine size and endometrial thickness.


Obesity

1. Define obesity and be aware of the risk factors for it in children

Page | 315

In children the BMI is expressed as a BMI centile in relation to age and
sex-matched population. In the UK the 1990 chart is used. For clinical
use, overweight is a BMI>91
st
centile, obese is >98
th
centile, very severe
obesity is >3.5 SD above the mean and extreme obesity is >4 SD above
the mean. For children over 12 BMI is used and the above categories
become 25, 30, 35, 40 kg/m
2
.

The reason for the marked increase in prevalence is unclear but is
thought to be due to changes in environment and behaviour relating to
diet and activity. Energy dense foods are now widely consumed although
there is no conclusive evidence that obese children eat more than normal
children. Childrens energy expenditure has undoubtedly decreased.
Fewer children walk to school, transport in cars has increased, there is
less time in school doing physical activities and children spend more time
in front of small screens rather than playing outside. Children from lower
socioeconomic backgrounds are more likely to be obese. Females from
these backgrounds are 2.5 times more likely to be obese than the highest
quintile.

Complications are multiple and affect later life as well as the immediate.
Orthopaedic problems can occur include abnormal foot structure. There
may be idiopathic intracranial hypertension (headaches, blurred optic disc
margins). Hypoventilation syndrome can occur which is daytime
somnolence, sleep apnoea, snoring, hypercapnia and heart failure. There
is the risk of gall bladder disease, type 2 DM, hypertension, abnormal
blood lipids, polycystic ovarian syndrome, psychological sequelae and
other medical problems such as cancers and asthma.


2. Outline the management steps for obese children

Most children are managed in primary care but specialist assessment is
needed when complications occur or if an endogenous cause is suspected.
Treatment should be considered when the child is above the 98
th
centile
for BMI and the family are willing to make the necessary difficult lifestyle
changes. Weight maintenance is a more realistic goal than weight loss
and will result in a demonstrable fall in BMI on centile chart as height
increases. This can be achieved by:
Healthier eating no sugar containing juices or soft drinks,
decreased food portion size, increased protein and non-
carbohydrate containing vegetables, discourage snacking and
encourage family meals
An increase in habitual physical activity to 60 minutes of moderate
to vigorous daily physical activity
Reduce physical inactivity during leisure time to less than an
average of 2 hours per day.

Page | 316

Drug and surgical options are also available. Drug treatment has a part to
play in children over the age of 12 who have extreme obesity (BMI>40)
or have a BMI >35 and complications of obesity. It is recommended that
drug treatment should only be considered after dietary, exercise and
behavioural approaches have been started. Orlistat is a lipase inhibitor
which reduces the absorption of dietary fat and thus produces
steatorrhoea. Fat intake should be reduced to avoid unpleasant GI side
effects. Metformin is a biguanide that increases insulin sensitivity,
decreases gluconeogenesis and decreases gastrointestinal glucose
absorption. Bariatric surgery is generally not considered appropriate in
children or young people unless they have almost achieved maturity,
have severe or extreme obesity with complications (e.g. Type 2 DM or
hypertension) and all other interventions have failed to achieve or
maintain weight loss.


3. List some common syndromes associated with obesity

Prader-Willi syndrome
Psuedohypoparathyroidism
Laurence-Moon-Biedl syndrome
Cohen syndrome
Down syndrome
Turner syndrome


Precocious Puberty

1. Define normal puberty development and precocious puberty

Normal puberty has been described in the delay in puberty section.

Premature development of secondary sexual characteristics before 8
years old in females and 9 years old in males is defined as outside the
normal range in the UK. It may be due to precocious puberty, premature
breast development or premature pubic hair development.

Precocious puberty (PP) may be categorised according to the level of
pituitary derived gonadotropins, follicle-stimulating hormone and
luteinising hormone as:
Gonadotropin dependent from premature activation of the
hypothalamic-pituitary gonadal axis
Gonadotrophin independent from excess sex steroids

Females
This is usually idiopathic or familial and follows the normal sequence of
puberty. Organic causes are rare and are associated with:
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Dissonance, when the sequence of pubertal change is abnormal e.g.
isolated pubic hair with virilisation of the genitalia, suggests excess
androgens from either congenital adrenal hyperplasia or an
androgen-secreting tumour
Rapid onset
Neurological symptoms and signs e.g. neurofibromatosis
Ultrasound examination of the ovaries and uterus is helpful in establishing
the cause of precocious puberty. In the premature onset of normal
puberty, multicystic ovaries and an enlarging uterus will be identified.

Males
This is uncommon and usually has an organic cause, particularly
intracranial tumours. Examination of the testes may be helpful:
Bilateral enlargement suggests gonadotropin release, usually from
an intracranial lesion
Small testes suggests an adrenal cause (e.g. a tumour or adrenal
hyperplasia)
A unilateral enlarged testis suggests a gonadal tumour
Tumours in the hypothalamic region are best investigated by cranial MRI
scan.


2. Outline initial investigations

Investigations are described above for girls and boys. Blood tests to
detect hormone levels are also very useful.

The management of precocious puberty is directed towards:
Detection and treatment of any underlying pathology, e.g.
intracranial tumour in males, and reducing the rate of skeletal
maturation if necessary. Skeletal maturation is assessed by bone
age. An early growth spurt may result in early cessation of growth
and a reduction in adult height.
Addressing psychological/behavioural difficulties associated with
early progression through puberty

Deciding whether to treat a girl who is simply going through puberty early
needs further consideration. If treatment is required for gonadotropin-
dependent disease gonadotropin-releasing hormone (GnRH) analogues
are the treatment of choice. In gonadotropin independent cases the
source of excess sex steroids needs to be identified. Inhibitors of
androgen or oestrogen production or action may be used.


Thyroid Disease

1. List the clinical features of hypo- and hyperthyroidism
Page | 318


The fetal thyroid predominately produces reverse T
3
which is largely
inactive. After birth there is a surge in the level of TSH which is
accompanied by a marked rise in T
4
and T
3
levels. The TSH declines to the
normal adult range within a week. Preterm infants may have very low
levels of T
4
for the first few weeks of life, while the TSH is within the
normal range; under these circumstances additional thyroxine is not
required.

Detection of congenital hypothyroidism is important as it is relatively
common (1/4000) and is one of the few preventable causes of severe
learning difficulties. Causes include:
Maldescent of the thyroid and athyrosis the commonest cause of
sporadic congenital hypothyroidism. This is where the thyroid fails
to migrate or develop properly so remains as a small lingual mass.
Dyshormonogenesis an inborn error of thyroid hormone synthesis
in about 5-10% of cases, although this is commoner in some ethnic
groups and consanguineous marriages
Iodine deficiency the commonest cause of congenital
hypothyroidism worldwide but rare in the UK
TSH deficiency rare and is usually due to panhypopituitarism.

Clinical features include:
Congenital
Usually asymptomatic and found on screening
Failure to thrive
Feeding problems
Prolonged jaundice
Constipation
Pale, cold, mottled, dry skin
Coarse facies
Large tongue
Hoarse cry
Goitre
Umbilical hernia
Delayed development
Acquired
Females>males
Short stature/growth failure
Cold intolerance
Dry skin
Cold peripheries
Bradycardia
Thin, dry hair
Goitre
Pale puffy eyes with loss of eyebrows
Slow relaxing reflexes
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Constipation
Delayed puberty
Obesity
Learning difficulties

Hyperthyroidism is usually the result of Graves disease, secondary to the
production of thyroid stimulating immunoglobulins. The clinical features
are similar to those in adults, although eye signs are less common. It is
most often seen in teenage girls. The levels of T
4
and/or T
3
are elevated
and TSH levels are suppressed very low.

Clinical features include:
Anxiety, restlessness
Increased appetite
Sweating
Diarrhoea
Weight loss
Rapid growth in height
Advanced bone maturity
Tremor
Tachycardia, wide pulse pressure
Warm, vasodilated peripheries
Goitre
Learning difficulties
Psychosis
Eye signs (uncommon) Exophthalmos, ophthalmoplegia, lid
retraction and lid lag


2. Outline the investigations and management of these conditions

Hypothyroidism

Most infants with congenital hypothyroidism are detected on routine
neonatal biochemical screening (Guthrie test) by identifying a raised TSH
in the blood. However thyroid dysfunction secondary to pituitary
abnormalities may not be picked up at neonatal screening as they will
have low TSH. In some countries T
4
is also measured. Treatment with
thyroxine is started at 2-3 weeks of age. Early treatment is essential to
prevent learning difficulties. With neonatal screening the result of long
term intellectual development has been satisfactory and intelligence
should be in the normal range for most children. Treatment is lifelong
with oral replacement of thyroxine, titrating the dose to maintain normal
growth, TSH and T
4
levels.

Hyperthyroidism

Page | 320

The first-line treatment is medical, with drugs such as carbimazole or
propylthiouracil that interfere with thyroid hormone synthesis. Initially B-
blockers may be given for symptomatic relief of anxiety, tremor and
tachycardia. There is a risk of neutropenia with anti-thyroid medication so
families should watch for signs of infection. Medical treatment is given for
2 years which should control the thyrotoxicosis, but the eye signs may
remain. When the treatment is stopped there is a 40-75% relapse. A
second course of drugs may be given or surgery considered. Radioiodine
is a simple treatment. With these procedures replacement thyroxine is
likely to be needed for life.


3. Understand the importance of early diagnosis of hypothyroidism in
children

Detailed above


Type 2 Diabetes

1. Be aware of the epidemiology, presenting features and early treatment
in children.

Type 2 diabetes is relatively rare in children but is becoming much more
common. Most paediatric cases of type 2 diabetes currently belong to the
minority communities. It tends to be commoner in girls and the range of
onset is generally 12-16 years.

Presenting features may include acanthosis nigricans, obesity and
hypertension. They have a strong family history and there is no thirst or
increased urination.

Treatment should include activity, diet, metformin and potential insulin
therapy where required.


Cushing Syndrome

1. Appreciate this is rare in children and know the causes

Glucocorticoid excess in children is usually a side-effect of long-term
glucocorticoid treatment for conditions such as asthma, nephrotic
syndrome or severe Bronchopulmonary dysplasia. Corticosteroids are
potent growth suppressors and prolonged use in high dosage will lead to
reduced adult height and osteopenia. This unwanted side-effect of
systemic corticosteroids is markedly reduced by taking corticosteroid
medication in the morning on alternate days.
Page | 321


Other causes of glucocorticoid excess are rare. It may be ACTH-driven,
from a pituitary adenoma, usually in older children, or from ectopic ACTH-
producing tumours, but these almost never occur in children. ACTH-
independent disease is usually from corticosteroid therapy, but may be
from adrenocortical tumours when there may also be virilisation. A
diagnosis of Cushing syndrome is often questioned in obese children as
most obese children are above average height where as Cushing
syndrome children are short and have growth failure.

Clinical features include growth failure, short stature, face and trunk
obesity, red cheeks, hirsutism, striae, hypertension, bruising,
carbohydrate intolerance, muscle wasting and weakness, osteopenia and
psychological problems.


Diabetes Insipidus

1. Be aware of the clinical features and at risk children

Diabetes insipidus is the failure to produce ADH, this results in polyuria
and polydipsia as the urine cannot be concentrated. The patient may
become extremely dehydrated or may present with nocturnal enuresis.
Treatment is with the ADH analogue Desmopressin, normally for life. This
is a genetic condition so the children most at risk are those whose parents
or family suffer from the same condition. Clinical features can be difficult
in young children and are generally none specific such as failure to thrive,
poor feeding and irritability. The earliest signs include vigorous suck with
vomiting, fever without apparent cause, constipation and excessively wet
nappies. Nocturia is common and signs of dehydration may be present.


Growth Hormone Deficiency

1. Understand this is a rare condition but can be investigated and treated

Much of this is discussed in the constitutional delay in growth section. The
primary investigation would be a growth hormone provocation test using
insulin, glucagon, clonidine or arginine. Growth hormone deficiency is
treated with biosynthetic growth hormone, which is given by
subcutaneous injection, usually daily. It is expensive and the
management of this deficiency is undertaken at specialist centres. The
best response is seen in children with the most severe deficiencies. Other
indications include Turner syndrome, Prader-Willi syndrome, chronic renal
failure and IUGR. Recently recombinant IGF-1 has been used to treat
children with growth hormone resistance (Laron syndrome) and IGF-1
deficiency who would have previously not responded to GH treatment.
Page | 322



Gynaecomastia

1. Identify the clinical features, causes and investigations

Gynaecomastia refers to male breast enlargement and occurs in around
half of boys (12-16 years old) as they go through puberty. This is
completely normal and will go away without treatment. Boys may notice a
small, firm, tender mass under one or both nipples which eventually
flatten out. The tenderness is only temporary and will go with time. In
rare cases it may be caused by drugs, OTC medicines, illegal drugs
(cannabis or steroids), tumours and certain genetic disorders (Klinefelter
syndrome).

Diagnosis is usually based on clinical examination and the knowledge that
the child is in puberty. A review of medication may be necessary and tests
can also be done although are rarely necessary. These might include
LFTs, plasma estradiol, plasma LH and plasma testosterone.


Prader-Willi Syndrome

1. List the features of the syndrome and outline the genetic basis

This occurs when a child has two copies of chromosome 15q11-13
inherited from the maternal side. Angelman syndrome occurs when there
are two copies of the same region inherited from the paternal side. It
currently affects 1 in 15,000-30,000 people but appears to be more
sporadic than familial.

There is obesity, poor linear growth (small stature), developmental delay,
dysmorphic facial features (smooth philtrum, round face), Hypotonia,
undescended testes (in the male), learning difficulties, behavioural
problems and hyperphagia with excessive appetite or food obsession.


Premature Thelarche/Pucarche

1. Define premature thelarche/pubarche and initial investigations

Thelarche premature breast development

This usually affects females between 6 months and 2 years of age. The
breast enlargement may be asymmetrical and rarely progresses beyond
stage 3. It is differentiated from precocious puberty by the absence of
Page | 323

axillary and pubic hair and of a growth spurt. It is non-progressive and
self limiting. Investigations are not usually required.

Pubarche

This occurs when pubic hair develops before 8 years of age in females and
before 9 years in males but with no other signs of sexual development. It
is most commonly caused by an accentuation of the normal maturation of
androgen production by the adrenal gland (adrenarche). It is more
common in Asian and Afro-Caribbean children. There may be a slight
increase in growth rate. It is usually self limiting. An ultrasound scan of
the ovaries and uterus and a bone age should be obtained to exclude
central precocious puberty. A more aggressive course of virilisation would
suggest late-onset non-salt losing congenital adrenal hyperplasia (CAH) or
an adrenal tumour. Obtaining a urinary steroid profile helps differentiate
premature pubarche from late onset CAH or an adrenal tumour. Children
who develop premature pubarche are at an increased risk of developing
polycystic ovarian syndrome in later life.


Emergency

Acute Life Threatening Event (ALTE)

1. Define the common causes of ALTEs

These occur in infants and are a combination of apnoea, colour change,
alteration in muscle tone, choking or gagging, which are frightening to the
observer. They are most common in infants less than 10 weeks old and
may occur on multiple occasions. They may be the presentation of a
potential serious disorder, although no cause is often identified.

Common causes:
Infections RSV, pertussis
Seizures
Gastro-oesophageal reflux
Upper airway obstruction natural or imposed
No cause identified

Uncommon causes:
Cardiac arrhythmia
Breath-holding
Anaemia
Heavy wrapping/heat stress
Central hypoventilation syndrome
Cyanotic spells from intrapulmonary shunting

Page | 324


2. Recognise and understand the immediate management of any acute
illness in a child

Management requires a detailed history and through examination to
identify problems with the baby or in care giving. The infant should be
admitted to hospital. Multi-channel overnight monitoring is usually
indicated. In most, the episode is brief with rapid recovery and the baby
is clinically well.


3. Have an understanding of the common investigations for ALTE to
establish a diagnosis

Baseline investigations and overnight monitoring of oxygen saturation,
respiration and ECG are found to be normal. The parents should be taught
resuscitation and will find it helpful to receive follow-up from a specialist
paediatric nurse and paediatrician. Detailed specialist investigation and
assessment will be required if clinical, biochemical or physiological
abnormalities are detected.

Investigations to be considered are:
Blood glucose (ASAP)
Blood gas (ASAP)
Oxygen saturation monitoring
Cardiorespiratory monitoring
EEG
Oesophageal pH monitoring
Barium swallow
FBC
U&Es, LFTs
Lactate
Urine microscopy, culture, metabolic studies and toxicology
ECG for QT conduction pathway abnormality
Chest x-ray
Lumbar puncture


Anaphylaxis

1. Understand the pathophysiology of anaphylaxis in respect of the
developing immune system

Both IgE and non-IgE activation of mast cells and basophils ignites a
cascade that results in the release and production of severe inflammatory
and vasoactive substances. These include histamine, tryptase, heparin,
prostaglandins, leukotrienes and cytokines. In anaphylaxis these
Page | 325

substances most commonly involve the skin, respiratory, cardiovascular
and gastrointestinal systems. As a result there is angioedema,
bronchospasm, bronchorrhea, laryngospasm, increased vascular
permeability and decreased vascular tone and occasionally bloody
diarrhoea.

The most common cause of these mediators being released is an IgE
mediated reaction. A previously sensitised B lymphocyte produces IgE
against a specific antigen. The IgE resides on the mast cells and
basophils. When the specific antigen, or one similar to it, binds to the high
affinity receptor then degranulation occurs.


2. List the common agents that cause anaphylaxis in children and the risk
factors children may have

Foods are the most common cause of anaphylaxis in children with
peanuts being the primary cause. These triggers can cause either an IgE
mediated reaction or a non-IgE mediated reaction (generally less severe
and with a delayed onset):
Food milk, eggs, wheat, soy, fish. Shellfish, tree nuts and
legumes (peanuts)
Medicine antibiotics (penicillin, cephalosporins), local anaesthetic,
analgesics (aspirin and NSAIDs), opiates (codeine and morphine)
and radiocontrast media
Biologicals venoms, vaccines
Preservatives and additives MSG
Others latex, unknown/idiopathic

Risk factors for anaphylaxis (or a more serious attack) include being
younger (smaller airway), having asthma, chronic GI symptoms
(increases risk of vomiting), hypotension and bradycardia as well as a
person history or family history of allergies and/or anaphylaxis.


3. Describe the common presenting features of anaphylaxis

Anaphylaxis involves a range of signs and symptoms from hives with
wheezing to cardiovascular collapse and death. It can occur with or
without shock. More than 80% of patients will present with cutaneous
symptoms. Generally at least 2 organ systems are involves however
anaphylaxis can simply present with low SBP for age or a decrease of
30% in SBP after known allergen exposure.

The primary clinical diagnostic criteria include the acute onset of skin
and/or mucosal symptoms along with either respiratory compromise
Page | 326

and/or reduced blood pressure or associated symptoms of end-organ
dysfunction e.g. hypotonia, syncope and incontinence.

Usually cutaneous symptoms present first and a history of exposure to a
known trigger is given. Symptoms may develop slowly and insidiously
over several hours or may rapidly progress over several minutes.
Parenteral agents generally have a faster onset of symptoms than
ingested ones.

Initial symptoms may also include itchiness and an awareness that
something isnt right. There can be a tingling mouth, runny nose, itchy
eyes and the feeling of being flushed. Some children may be too young to
show these symptoms (most anaphylaxis occurs in under 5s) but there
can be general signs of irritability.


4. Detail the immediate management of anaphylaxis including ABC and
medium term management

Airway Swelling, hoarseness, stridor
Breathing tachypnoea, wheeze, cyanosis, SpO
2
<92%
Circulation pale, clammy, hypotension, drowsy, coma

The above outline the signs that may be seen in anaphylaxis. The first
step is to call for help before putting the patient in the supine position
with the legs raised.

Adrenaline (epinephrine) 1:1000 given IM (unless IV access is available);
<6 years 150 micrograms, 6-12 years 300 micrograms and >12 years
500 micrograms to be given. Additionally an airway should be established
and maintained and high flow oxygen given. IV fluids will help in addition
to IM or slow IV hydrocortisone and chlorpheniramine. Pulse oximetry,
ECG and blood pressure all need to be monitored.

The medium-long term management of this condition should include the
provision of an Epipen for on the go IM adrenaline if needed. There should
clearly be an avoidance of the causative allergen in future. Antihistamines
can be useful if there is a milder allergy. Steroids are particularly
important in preventing a late phase reaction. Finally a person can be
desensitised to certain allergens using immunotherapy.


5. List some common investigations for anaphylaxis

Serum histamine levels rise quickly with the onset of symptoms but do
not remain elevated after 30-60 minutes. Serum tryptase levels peak at
60-90 minutes after the onset of symptoms and remain raised for up to 5
Page | 327

hours. B-tryptase is released with degranulation of mast cells whereas a-
tryptase is secreted constitutively by the mast cell. The ratio of total
tryptase to b-tryptase can help distinguish systemic mastocytosis from
anaphylaxis.

Other useful tests include C1 inhibitor functional assay (C1INH) and urine
vanillylmandelic acid (VMA) and serum serotonin levels.
Radioallergosorbent test or cutaneous antigen testing can be used after
recovery to try to identify the inciting antigen.


6. Understand the role of patient help medication for immediate out of
hospital treatment for anaphylactic reactions

An Epipen (epinephrine autoinjector) should be provided to all people who
suffer from anaphylaxis. This can be administered IM when the signs and
symptoms begin to manifest and can be life saving while the patient is
transferred to hospital.


Poisoning/Ingestion/Overdose

1. Detail the epidemiology of accidental poisoning in children and
indentify those most at risk

90% of incidents happen in a childs own home where supervision is
inadequate or appropriate precautions have not been taken to prevent
access to these chemicals. Most accidental poisonings occur in young
children with a peak age of 30 months. There are around 32,000
telephone inquires about accidental poisoning in the UK each year but
fortunately there are few deaths. Those children at risk may live in a
house with poor parental input or where they are at risk of abuse or
neglect. Toddlers who can walk and do not know the dangers of ingestion
are those most at risk.


2. Detail the epidemiology of deliberate self harm through overdose or
self injury

These figures are hard to find as many children never present to services.
It is thought that up to 7% of adolescents have engaged in self harming
activity with the incidence being higher in teenage girls. For most people
this will resolve before adulthood but it can persist in up to 10%. Anxiety,
depression, heavy alcohol use, smoking and cannabis use have all been
associated with self harm. Self cutting and burning are the commonest
forms.

Page | 328


3. List the common presenting features of the main ingestion/overdose
causes including paracetamol, NSAIDs, iron, methadone, alcohol and
detergents

Paracetamol large ingestion is uncommon in young children as tablets
are difficult to swallow and elixir is too sweet. Adverse affects include
gastric irritation and liver failure after 3-5 days. Management is to check
the plasma concentration after 4 hours ingestion. If >150mg/kg has been
taken, or is plasma concentration is high, then start IV acetylcysteine.
Monitor prothrombin time, liver function and plasma creatinine.

NSAIDs again depends on the amount ingested. Symptoms may be
mild nausea, vomiting and electrolyte abnormalities. Large ingestion can
lead to an altered level of consciousness, tachypnoea and even coma.
There may be multiple organ failure and seizures. Tinnitus and nystagmus
occur along with abdominal pain. Initially assess ABC and stabilise the
patient. Next GI decontamination should begin with activated charcoal.
Orogastric lavage may also be needed.

Iron initially there is vomiting, diarrhoea, haematemesis, melaena,
acute GI ulceration. There is then a latent period of improvement. Hours
later there is drowsiness, coma, shock, liver failure, hypoglycaemia and
convulsions. Long term this can lead to gastric strictures. If serious
toxicity (>60mg/kg elemental iron) then perform abdominal x-ray to
count the number of tablets. Perform serum iron levels and consider
gastric lavage (especially if severe and <1 hour ingestion time).
Intravenous desferrioxamine for chelation may be used.

Methadone symptoms include pinpoint pupils, constipation, nausea,
vomiting and spasms. There will be a low blood pressure, weak pulse and
shallow slow breathing. Eventually this will lead to coma, drowsiness and
peripheral shut down. If the patient lacks spontaneous respiration then
intubate and give IV naloxone (antidote) to relieve some respiratory
depression.

Alcohol cause hypoglycaemia, coma and respiratory failure.
Management is to monitor blood glucose, check blood alcohol levels for
severity and give IV dextrose if needed.

Detergents these agents are generally very caustic and present with
dyspnoea, dysphagia, oral pain, cheek pain, abdominal pain, nausea and
vomiting. Do not induce emesis or try to neutralise the agent. Dilutant
may be used in some cases. The main treatment should be airway
support and gastric emptying and decontamination (via NG tube).


Page | 329

4. Outline the immediate management of the common poisoning agents

See above for specific information

General management of poisoning is as follows:
Identification of poison
Assessment of agents toxicity
Is removal of poison indicated (little evidence of this being effective
over 1 hour)? The options available are as follows:
- Activated charcoal is the most effective available method and
absorbs many drugs. It is ineffective for iron, hydrocarbons and
insecticides. It is black, unpalatable and gritty.
- Gastric lavage is rarely used in children and only consider for large
quantities. A cuffed tracheal tube must be used if the patient is
drowsy
- Induced vomiting with ipecac is rare used as it is ineffective.
Are investigations indicated blood glucose for alcohol ingestion,
blood levels of drug, toxicology screen
Plan clinical management determined by toxicity and if low then
home, medium is observation then discharge and high is hospital
admission.
Assess social circumstances required to prevent future incidents


5. Be aware of the resources available when dealing with children who
have ingested/overdosed on a substance

A&E
CAMS (child and adolescent mental health services)


6. Recognise the importance of the social family factors in these children

A lot of overdoses at home occur due to poor supervision (although not
always) which increases the risk of these incidences. There should also be
consideration of abuse and even the purposeful administration of these
poisons. With the purposeful overdoses there may be a poorly cohesive
family unit at home with little parental support. These factors are vital to
protect against further incidents and need consideration.


7. Outline the associated risk factors for adolescents who overdose or
self-harm

Epidemiological risk factors:
Men are more likely to complete suicide but women engage in more
parasuicidal activity
Page | 330

Rates highest in men 19-34 years old
Divorced>widowed>single
Social class V
Living alone

Clinical risk factors:
Psychiatric illness
Previous deliberate self harm
Alcohol dependence
Physical illness especially terminal illness and debilitating or
chronically painful conditions
Family history of depression, alcohol dependence or suicide
Recent adverse life-events (especially bereavement)


8. Be aware of the safeguarding issues in these children

As mentioned above this event may have been due to neglect or may
have been purposeful. These children need reviewing and potential safe
guarding put in place.


Sudden Infant Death Syndrome

1. Describe the epidemiology of SIDS including risk factors

This is defined as the sudden and unexpected death of an infant or young
child for which no adequate cause is found after a thorough post-mortem
examination. There is a marked variation in the incidence of SIDS in
different countries, suggesting that environmental factors are important.
SIDS occurs most commonly at 2-4 months of age. The risk for
subsequent children is slightly increased. In the UK the incidence of SIDS
has dramatically fallen over the last 20 years, coinciding with the national
Back to sleep campaign which is detailed in objective 2. The incidence in
the US in 2005 was 1 in 2000 births.

Risk factors include:
The infant aged 1-6 months with a peak at 12 weeks, low birth
weight and preterm, sex (male 60%) and multiple births, GI
reflux
The parents low income, poor or overcrowded housing, maternal
age with <20 carrying three times the risk, single unsupported
mother, high maternal parity, maternal smoking during pregnancy
(>20 a day increases risk by 5 fold), and smoking after childs birth.
The environment lying prone (face down), overheating


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2. Give advice to parents about avoidance of SIDS and some of the
evidence behind this

Infants should be put to sleep on their back (not their front or side)
Overheating by heavy wrapping and high room temperature should
be avoided
Infants should be placed in the feet to foot position (feet at the foot
of the bed so they dont slip under the covers)
Do not smoke during pregnancy or in the same room as the infant


3. Outline the common investigations and procedures that occur following
the unexplained death of a child

The following steps occur after a sudden infant death:
Resuscitation if appropriate
Care of parents history obtained
Baby pronounced dead detailed clinical examination, remove
endotracheal tube, intraosseous needles but retain venous lines.
Remove clothes and bedding to give to police. Investigations should
include a nasopharyngeal aspirate for virology and bacteriology,
blood toxicology, metabolic screen, blood culture, urine for
biochemistry and toxicology. And lumbar puncture.
Breaking the news to the parents explain the police and coroner
will be involved and a post-mortem is required. The option for organ
donation is given and parents should be informed they are not
being blamed (despite involvement of the police as it is protocol).
Parents offered to see and hold their baby this may occur
immediately or within a few days (based on parents wishes) and a
minister may be asked to attend by the parents
Initial strategy discussion social services asked to identify any
concerns
Home visit within 24 hours police attend to get a detailed report
Postmortem
Case discussion
Follow up and bereavement counselling


Burns/Scalds

1. Describe the epidemiology, risk factors and presenting features of
burns/scalds

It is estimated than half a million children are admitted to hospital with
burns each year, across the world. The majority of these occur in low to
middle income countries. Low economic status and low education levels of
the mother are the main demographic factors associated with a high risk
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of burn injury. Other associated factors are a high population density,
household crowding and psychological stress in the family. Single parents
and younger mothers are more at risk, especially if they are unemployed.

Worldwide the under 5s account for half of all burns, the majority of
which occur at home and are scolds. Scolds are more common in toddlers
particularly as they scold at a lower temperature due to thinner skin.

The parents usually bring the child with a clear history of a burn or scold.
In addition to the clear area of damage there may be blisters, pain,
peeling skin, shock, airway obstruction, wheezing and swelling.


2. Outline the first aid of burns/scalds out of hospital

Initially the area should be run under cold water (not icy) for at least 5
minutes. A cold water compress may also be helpful from the perspective
of pain. The person should be calmed and reassured and then the area
wrapped in cling film or a sterile bandage. The burn should be protected
from friction and pressure. Ibuprofen and paracetamol can be given to
reduce the swelling and pain. Do not apply any creams or medicines to
the burn.


3. Describe the immediate assessment and management of burns/scalds
in the emergency department

Firstly the severity of the injury must be assessed:
Is the airway, breathing and circulation stable?
Was there any smoke inhalation? If this has occurred there is a
danger of subsequent respiratory complications and carbon
monoxide poisoning. All affected children should be observed and
managed in hospital with a low threshold to protect the airway
before secondary problems develop.
Depth of burn in superficial burns the skin will be epithelialised
from surviving cells. In partial thickness burns there is some
damage to the dermis, with blistering and the skin is pink or
mottled. Regeneration for superficial and partial thickness burns is
from the margins of the wound and from the residual epithelial
layer surrounding the hair follicles deep within the dermis. In deep
(full thickness) burns the skin is destroyed down to and including
the dermis and looks white or charred, is painless and involves hair
follicles, hence skin grafting is often required. Deep burns need
assessment and treatment in hospital
Surface area of the burn is important and can be calculated from a
surface area chart. Burns more than 5% full thickness and 10%
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partial thickness need assessment by burns specialists. Involvement
of greater than 70% of the body carries a poor prognosis.
Special sites include the mouth and face which can cause
disfigurement and also compromise the airway.

Treatment should be directed at:
Relief of pain using a pain score and may require strong analgesia
such as IV morphine
Treating shock with IV fluids, preferable plasma expanders and
close monitoring of haematocrit and urinary output. Children with
more than 10% burns will require IV fluids.
Providing wound care and covering the burns with plastic wrapping
to protect against the air and infection. Blisters should be left alone
and irrigation with cold water should be used briefly to superficial or
partial thickness burns covering less than 10% of the body as it
may cause excessive cooling otherwise. Tetanus immunisation
status must be ascertained and a booster given if required. Ongoing
care involves removal of dead tissue and replacement of sterile
dressings.

If burns occur in specialist sites then a plastic surgeon may be needed for
reconstruction. Psychological support may also be needed for the
psychological sequelae of severe burns.


4. Be aware of the principles of burn/scald treatment

See above


5. Recognise the importance of safeguarding in this area

Not all burns are an accident and many will need investigating,
particularly if severe or recurrent. Burns may also occur as an accident
but in part due to neglect which is also a safe guarding issue. The site,
depth and type of burn are all indications of accidental or deliberate
injury. For example a cigarette burn may be accidental if very shallow but
if deep then it implies a deliberate burn.


6. Be aware of preventative measures to reduce the prevalence of these
injuries in children

Install smoke alarms in the house
Teach a child about fire safety and the hazards of matches and
fireworks
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Keep children from being able to climb near stoves or from reaching
and pulling pans, irons and oven doors
Turn pot handles towards the back of the stove
Place fire extinguishers in key locations
Remove electrical cords from the floor and keep them out of reach
Use plug covers to prevent against electrical burns
Other common sense step


7. Recognise the importance of airway compromise with facial burns or
smoke inhalation

An airway burn has a significant impact on the survival of the patient.
This leads to upper airway swelling, acute respiratory failure and carbon
monoxide intoxication (if due to smoke). Oedema typically occurs 12-24
hours after injury and hence early intubation is recommended rather than
observation. Oxygen at a high flow should be given. If respiratory effort
fails due to damage then mechanical ventilation should be started in the
aim to blow off any excess CO.


8. Appreciate the different between electrical burns

Like before these primarily occur in the household and can vary from
minor to multi organ involvement. Electrical injuries should be assessed
according to the power source and the type of current. Most are low
tension injuries (<110 volts) and occur on the hands or mouth.
Electrocution generates heat and follows the path of least resistance. This
can cause characteristic burns in children as well as muscle damage and
cardiac anomalies. Injuries also often result from being thrown from the
electrical source if it is AC. There may be tetanic contraction of muscles
which results in muscle damage or tearing.


Trauma/Injury

1. Describe the epidemiology of trauma/injury in children

Trauma and injury is a broad topic and can include many things such as
RTAs, head injuries, bike accidents and internal injuries. Injury is the
leading cause of death in children older than 1 year and accounts for
65%. Road accidents make up the largest proportion of these, followed by
homicide and drowning. Male children who are in their adolescence are
most at risk. Blunt force is much more common than penetrative injuries.


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2. Recognise the sick child as a result of injury/trauma and the immediate
first steps of treatment

Assessment

Airway and breathing assess for airway obstruction, work of
breathing/effort, respiratory rate, stridor, wheeze, auscultation for air
entry, cyanosis

Circulation heart rate, pulse volume, capillary refill time, blood pressure

Disability consciousness, posture (hypotonia, decorticate, decerebrate),
pupil size and reactivity

Management

Airway and cervical spine assume damaged and that neck
movements may cause further damage. Only use jaw thrusts and
chin lifts to open the airway and no neck extension. Secure the neck
with a rigid cervical collar and sandbags. Discontinue immobilisation
only after cervical spine x-rays and neurological examination are
found to be normal
Breathing give high flow oxygen via face mask and if inadequate
then start ventilation. If there is asymmetry of percussion note or
breath sounds then consider pneumothorax/haemothorax or a
misplaced endotracheal tube
Circulation and haemorrhage bleeding from a superficial wound?
If there is shock then is there internal bleeding. Consider an x-ray
of the chest and pelvis. Apply pressure to stop the bleeding if
visible. Insert two large venous cannulae and take FBC, group and
cross-match. Give crystalloid 20ml/kg and reassess. Seek surgical
opinion as likely to be ruptured liver, spleen or fractured pelvis or
long bone.
Disability assess consciousness and secure airway, provide
respiratory support if GCS<8 or at P on AVPU (alert, voice, pain,
unresponsive) scale. Assess pupil size and reactivity and if abnormal
or unequal then assume serious head injury
Exposure examine all parts of the body, consider analgesia and
also consider gastric tubing. Remove all clothing but avoid
hypothermia and embarrassment.



Near Drowning

1. Be aware of drowning as a cause of death/morbidity in children and the
basic epidemiology
Page | 336


Worldwide around 450,000 children drown each year and this is the
leading cause of accidental death under 15 years of age. Drowning is
three times more common in boys than girls and is generally more
common in warmer countries, mostly due to domestic swimming pools.
Babies are at risk of drowning in the bath, toddlers may wander into
ponder or swimming pools and older children may get into trouble in
swimming pools, rivers, canals, lakes and in the sea.

Up to 30% of fatalities can be prevented by skilled on site resuscitation.
Even children who are unconscious with fixed dilated pupils can survive
near drowning episodes, particularly if the water is cold due to the
protective effect of hypothermia against hypoxic brain injury. Therefore
these children need full resuscitation until they have warmed up to nearly
normal. Immediate management at the waterside is CPR with rescue
breaths. Heat loss should be prevented by covering and warming.
Children who have inhaled water need admitting to assess for respiratory
distress from pulmonary oedema, 1-72 hours after due to secondary
surfactant deficiency. Some aspirate water and develop pneumonia with
secondary infection. There appears to be no difference in survival
between salt and fresh water drowning.


Infection/Immunology

Meningococcaemia

1. Outline the incidence and demographics

Firstly it is worth noting that two thirds of meningitis cases are viral. Over
80% of patients with bacterial meningitis in the UK are younger than 16
years. Only meningitis is present in 30-50% of cases of invasive
meningococcal disease whereas 7-10% of cases only have features of
septicaemia and 40% have both, 10% of patients being left with long
term neurological impairment. Bacterial meningitis more commonly
occurs in black and Hispanic children but may be due to socioeconomic
factors. This occurs more commonly in males and peak incidence is 6-24
months, with most cases being under 4 years. Children under 6 months
are generally protected by maternal antibodies. The incidence of
meningococcaemia is 0.7-1.4 per 100,000

As many as 30% of teenagers and 10% of adults carry meningococci in
their respiratory tract at any given time.

The clinical different between septicaemia and meningitis is importance
because patients who present with shock are treated differently than
patients who present primarily with increased ICP.
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2. Understand the pathophysiology of Neisseria meningitides and the
serotypes that cause disease (reference to immunisation schedule)

N.meningitides is the organism that causes meningococcaemia. There are
around 13 serotypes identified but the most significant of these are A, B
and C. Serotype A and C predominate in Asia and Africa and serotypes B
and C predominate in Europe, North America and South America. In the
UK most deaths used to be due to type C.

Humans are the only known reservoir for N.meningitides and can transmit
organisms by aerosol or nasopharyngeal secretions. Meningococcal
infection is preceded by nasopharyngeal colonisation. Meningococci then
enter the blood stream and spread to specific sites such as the meninges,
joints or disseminate throughout the body. 5% of individuals become
asymptomatic carriers. An increased risk of infection can be due to
attending pubs/clubs, kissing and smoking (hence higher in university
halls of residence).

Meningococci have 3 importance virulence factors which are the
polysaccharide capsule, their lipo-oligosaccharide endotoxin (mediates
invasion and is the protein that our body responds to) and
immunoglobulin A1 protease which cleaves membranes and helps the
organism survive intracellularly.

Meningitis C vaccine is given at 3 months, 4 months and at 1 year.
Meningococcal group B vaccine is currently being developed.

Much of the damaged caused by meningitis is as a result of the host
response rather than the organism itself. The release of inflammatory
mediators and activated leucocytes together with endothelial damage,
leads to cerebral oedema, raised ICP and decreased cerebral blood flow.

Other causative organisms include:
Neonate to 3 months Group B strep, E.coli, Listeria
1 month 6 years N.meningitidis, Strep pneumoniae,
H.influenzae
>6 years N.meningitidis, Strep pneumoniae


3. know how this disease presents clinically reference to NICE guidelines
on febrile children (description of purpura and relevant differential
diagnoses)

The younger the child the less likely he or she is to exhibit the classic
symptoms of fever, headache and meningeal signs. Meningitis in the
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neonatal period is associated with maternal infection or pyrexia on
delivery. A child younger than 3 months may have very non-specific
symptoms including hyperthermia/hypothermia, change in sleeping or
eating habits, irritability or lethargy, vomiting, high pitched cry or
seizures. Meningismus and a bulging fontanel may be observed. A child
who is quiet at rest but who cries when moved or comforted may have
meningitis.

After three months of age the child may display symptoms more often
associated with bacterial meningitis with fever, vomiting, irritability,
lethargy or any change in behaviour. After 2-3 years the child may
complain of headache, stiff neck and photophobia. The clinical course may
be brief and fulminant or gradual with several days of URTI followed by
more severe symptoms.

A petechial rash (if N.meningitidis) is common and develops in 50-80% of
patients and involves the axillae, flanks, wrists and ankles. They are
usually located in the centre of lighter coloured macules. These are non-
blanching and a sign of vasculitis. Opisthotonus is arching of the back
with increased ICP and there may also be positive Brudzinski (flexion of
the neck with the child supine causing flexion of the knees and
hips)/Kernig (with the child lying supine and with the hips and knees
flexed there is back pain on extension of the knee) signs.

The classic signs are:
Headache
Fever
Vomiting
Photophobia
Lethargy
Neck stiffness
Rash in over 50%
Seizures in 20%
Early non-specific symptoms

Septicaemia

This syndrome results from the activation and continued stimulation of
the immune system by proinflammatory cytokines, caused by endotoxin.
The clinical spectrum is produced by 4 elements: capillary leak,
coagulopathy, metabolic derangement and myocardial failure.

Capillary leak from presentation until day 2-4 the vascular permeability
massively increases causing protein to enter the intravascular space and
urine causing severe hypovolaemia. There is initial vasoconstriction to
compensate but eventually there is decreased venous return and
decreased cardiac output.
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Coagulopathy there is a severe bleed tendency in meningococcaemia
and presents with severe thrombosis in the microvasculature of the skin,
often in a glove and stocking distribution, sometimes requiring
amputation.

Metabolic derangement profound acidosis occurs with severe metabolic
abnormalities including hypokalaemia, hypocalcaemia, hypomagnesaemia
and hypophosphataemia.

Myocardial failure function remains impaired even after the circulating
volume is restored and metabolic abnormalities corrected. A gallop
rhythm is often audible with elevated CVP and hepatomegaly. This is
thought to result from direct damage with proinflammatory mediators,
acidosis and hypoxia.

Typical presentation includes:
Fever
Rash (may initially be erythematous and may change to petechiae
and purpura)
Vomiting
Headache
Myalgia
Abdominal pain
Tachycardia/tachypnoea
Hypotension
Cool extremities
Initially normal consciousness level


NICE defines purpura as >2mm in diameter but does not give an exact
definition.

Differentials include sepsis, febrile seizures, measles, mumps, HSP, ITP or
Reyes syndrome


4. Understand and outline the acute management of fulminant
meningococcal sepsis and meningitis

Investigations

FBC
Blood glucose and blood gas
Coagulation screen
U&Es, LFTs
Blood cultures, urine culture, stool culture, throat swab
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Rapid antigen testing for meningitis organisms
Lumbar puncture
Chest x-ray if suspected TB
Consider CT/MRI and EEG

Management

With meningitis it is imperative that there is no delay in administering
antibiotics and supportive therapy. The choice of antibiotics will depend
on the likely pathogen but a third generation cephalosporin (e.g.
ceftriaxone or cefotaxime) is preferred as it covers most common
bacteria. Beyond the neonatal period dexamethasone administered with
the antibiotics reduces the risk of long-term complications such as
deafness.

With meningococcal septicaemia the child needs rapid stabilisation and
may require intensive care. Initially broad spectrum antibiotics should be
given. Significant hypovolaemia is often present owing to fluid
maldistribution which occurs due to the release of vasoactive mediators
by host inflammatory and endothelial cells. There is a loss of intravascular
proteins and fluids and circulating plasma volume is lost in the interstitial
fluid. CVP and urinary catheterisation should be done to assess fluid
balance. Capillary leak into the lungs may cause pulmonary oedema
leadings to respiratory failure and the need for mechanical ventilation.
Myocardial dysfunction occurs due to inflammatory cytokines and
circulating toxins depressing the myocardial contractility, hence inotropic
support may be needed. DIC may occur due to widespread microvascular
thrombosis and consumption of clotting factors. This needs correcting
with FFP and platelets.

Prophylaxis

Treatment with rifampicin to eradicate nasopharyngeal carriage is
recommended in all household contacts. It is not required for the patient
if they receive a third generation cephalosporin. Household contacts of
patients with meningococcal meningitis type C should be immunised
against group C.


5. Demonstrate awareness that this is a notifiable disease (and what this
means)

This is a notifiable disease meaning that the local public health
department need telling about it. Patients cannot refuse this.


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6. Understand that any child who is acutely septic with or without a
purpuric rash may have meningococcaemia (presentation with
maculopapular rash occurs in early disease)

True. Sepsis is mostly commonly caused by meningococcus in children so
should be suspected even if there is no rash.


7. Describe potential sequelae and the complications of
meningococcaemia

Despite early aggressive management the complications remain
significant. In the neonatal period the mortality is 15-25% and this drops
to 5% after this age. Focal neurological sequelae may occur in 10-15% of
patients with meningitis and these problems are included below.

Sequelae and complications can be divided into nervous system and
others.

Others
DIC
Thrombocytopenia
Septic arthritis
Pericarditis
Bacterial endocarditis
Gangrene

Nervous System
Visual field defects
Facial palsy
Hemiparesis
Hearing loss
Local vasculitis may cause cranial nerve palsies or other focal
lesions
Local cerebral infarction may result in focal or multifocal seizures
which may subsequently lead to epilepsy
Subdural effusion particularly associated with H.influenzae and
pneumococcal meningitis
Hydrocephalus results from impaired CSF reabsorption or
blockage of the ventricular outlets by fibrin. A ventricular shunt may
be required
Cerebral abscess the childs clinical condition deteriorates with the
emergence of signs of a space occupying lesion. The temperature
will fluctuate and this can be confirmed on CT.


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8. Awareness of the rare underlying immunological deficits that may lead
to recurrent meningococcaemia (complement deficiency)

The prevalence is thought to be relatively rare for complement deficiency
but up to 30% of people with recurrent meningococcaemia have it.


Septicaemia

1. Be able to define sepsis

Sepsis refers to a bacterial infection in the blood stream or body tissues.
This is a very broad term covering the presence of many types of
microscopic disease causing organisms.


2. List the relevant causative organisms at various ages e.g. neonate,
infant, toddler, pre-school/school child

In patients with early onset neonatal sepsis (<48 hours after birth) there
is an ascending infection from the birth canal and into the amniotic fluid.
These infants have pneumonia and septicaemia. Causative organisms
include group B streptococcus, E.coli, H.influenzae and listeria
monoctogenes

In patients with late-onset neonatal sepsis the source of infection is often
the environment. Causative organisms include Staph.epidermidis,
Staph.aureus, E.col, Kelbsiella, Psudonmonas, Enterobacter, Serratia and
Candida

In infants worldwide the most common causes of bacterial sepsis are
H.influenzae type B, Strep.pneumoniae, N.meningitids and salmonella.

In childhood the pathogens are similar to infancy although the presence
of encapsulated organisms generally becomes less common.


3. Outline the main causative organisms in at-risk groups e.g.
immunocompromised, chronic respiratory illness

Immunodeficiency predisposes to SIRS from various usual and unusual
pathogens but particularly pneumococcus.

Patients with chronic respiratory illness are particularly at risk from
pseudomonas.


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4. Know how sepsis presents clinically in these age groups reference to
knowledge of target physiology parameters for each age group (BP, pulse,
RR); reference to NICE guidelines on febrile child traffic light assessment
i.e. what are red-flag signs/symptoms

Normal Parameters

Respiratory rate
Age Normal Tachypnoea
Neonate 30-50 >60
Infants 20-30 >50
Young Children 20-30 >40
Older Children 15-20 >30

Heart rate
Age Beats/min
<1 Year 110-160
2-5 Years 95-140
5-12 Years 80-120
>12 Years 60-100

Blood pressure
Age Upper limit of SBP
1-5 Years 110 mmHg
6-10 Years 120 mmHg

Fever is the most common presenting symptoms of children with SIRS
and a parental report can usually be assumed to be reliable. Signs that
may be noticed initially include minimal tachycardia widened pulse
pressure, minimal tachypnoea and minimally delayed capillary refill. Later
there will be hypotension, mental state changes, anuria, hypothermia,
cool extremities and potentially a petechial or purpuric rash.
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5. Understand pathophysiology of shock and how to recognise clinically
the degree of shock

Shock is defined physiologically as inadequate delivery of substrates and
oxygen to meet the metabolic needs of the tissues. As cells are starved of
oxygen and substrate they can no longer sustain efficient aerobic oxygen
production. As oxygen delivery is impaired the cells must switch to the
much less efficient anaerobic metabolic pathway which generates only 2
ATP per glucose rather than 36, with the resulting accumulation of lactic
acid. Eventually cellular metabolism is no longer able to generate enough
energy to power components of cellular homeostasis leading to disruption
of the cell membrane ionic pumps, accumulation of intracellular sodium
and efflux of potassium. The cells swell, membranes break down and cell
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death ensures. Widespread cell death results in multiple system organ
failure and even death.

The clinical features of shock are manifestations of compensatory
physiological mechanisms to maintain the circulation and the direct
effects of poor perfusion of tissues and organs. In early compensated
shock the blood pressure is maintained by increased HR and RR
redistribution of blood from venous reserve volume and diversion of blood
flow from non-essential tissues such as the skin in the peripheries, which
becomes cold, to the vital organs like the brain and heart. In shock due to
dehydration there is usually >10% loss of body weight and a profound
metabolic acidosis which is compounded by failure to feed and drink while
severely ill. Low BP is a late stage and indicates compensatory responses
are failing. In late or uncompensated shock the BP falls and lactic acid
increases.

Early (compensated) Late (decompensated)
Tachypnoea Acidotic breathing (Kussmaul)
Tachycardia Bradycardia
Decreased skin turgor Confusion/depressed consciousness
Sunken eyes and fontanelle Blue peripheries
Delayed capillary refill >2
seconds
Absent urine output
Mottled, pale, cold skin Hypotension
Core-peripheral temperature
gap >4
o
C

Decreased urinary output


6. Understand and demonstrate which antibiotics would be most
appropriate empiric choice based on age and presentation of the child
with septicaemia

Newborns and infants in the first 6-8 weeks of life should generally
receive ampicillin and gentamicin, ampicillin and cefotaxime or ampicillin
and ceftriaxone unless a clear etiology is known. In older infants and
children generally a third generation cephalosporin is given alone.
Patients with indwelling lines are given vancomycin is MRSA is suspected.


7. Demonstrate awareness of escalation of treatment of septicaemia and
shock and the role of appropriate airway management, inotropic support
and intensive care management

Page | 346


The management of septicaemia has previously been discussed and
largely revolves around the provision of adequate antibiotic cover in
addition to managing any complication of metabolic derangement,
cardiomyopathy, capillary leak and clotting.

Septicaemia generally leads to shock so the treatment is along the same
management plan. Initially, after basic life support and antibiotic therapy,
oxygen should be delivered at 10-15 L/min by facial mask. Any patient
with cool extremities, prolonged capillary refill time and a tachycardia
should be considered to have shock. The initial therapy for shock is
volume replacement at a rate of 20 ml/kg. In the UK the use of 4.5%
albumin solution is generally recommended. A satisfactory response to
volume replacement is a drop in heart rate and improved peripheral
perfusion. The first bolus of fluid may be repeated to achieve this
response. The patient's condition may stabilise with only volume
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replacement, but the patient requires close monitoring and reassessment
to detect further signs of shock or pulmonary oedema (due to capillary
leak). The goal of circulatory support is to maintain tissue perfusion and
oxygenation.

Patients who do not response to initial volume replacement require
further volume replacement and may need ionotropic support, such as the
use of dopamine which may be administered via a peripheral vein until
central venous access is established. Patients with persistent hypotension
may need an adrenaline infusion administered centrally. Endotracheal
intubation and ventilation are recommended in patients who still have
signs of shock after they have received volume replacement of more than
40ml/kg. Even patients who are awake and alert have a high risk of
pulmonary oedema. The mechanical ventilation helps to relieve metabolic
work for the patient and may facilitate the removal of carbon dioxide.

Biochemical correction of acidosis, hypoglycaemia, hypokalaemia,
hypocalcaemia and hypomagnesaemia is required. Correct coagulopathy
and anaemia with the use of fresh frozen plasma and blood as
appropriate.

8. Know how to record information in patient notes to enable a relevant
and structured handover when needed i.e. To ICU staff

Id hope so by this stage


Allergy/Food Allergy

1. Understand the pathophysiology of allergic reactions

Many genes have been linked to the development of allergic disease.
Polymorphisms or mutations in these genes lead to susceptibility to
allergy. Allergic diseases occur when individuals make an abnormal
immune response to harmless environmental stimuli, usually proteins.
The developing immune system must be sensitised to an allergen before
an allergic immune response develops. However sensitisation can be
occult e.g. sensitisation to egg from exposure to trace quantities in
maternal breast milk. Only a few stimuli account for allergic disease,
which are inhalant allergens, ingestant allergens and insect stings/bits,
drugs and latex. Proteins with an unstable tertiary structure may be
rendered non-allergenic by heat degradation.

The allergic immune response is classified as an IgE mediated or non-IgE
mediated reaction. IgE mediated reactions have a clinical course:
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Early phase within minutes of exposure, caused by histamine
release and other mediators from mast cells. Causes urticaria,
angioedema, sneezing and bronchospasm.
Late phase 4-6 hours later with nasal congestion in the upper
airway and cough and bronchospasm in the lower airway.
The majority of life threatening events are IgE mediated as non-IgE
mediated reactions have a delayed onset of symptoms and a more
variable clinical course.

The pathophysiology is as follows:
This is a type 1 hypersensitivity reaction
Involves IgE and mast cells. The IgE is derived from B-cells that are
activated by exposed T
H
2 cells via the release of IL4. The initial
exposure leads to the recruitment of eosinophils.
The IgE molecules bound to the Fc receptors on mast cells are
cross-linked by specific antigens
This cross-linking leads to the release of preformed inflammatory
mediators and the production and subsequent release of arachidonic
acid derived inflammatory mediators
The mediators have the effect of inducing inflammation and leads to
marked vasodilation, smooth muscle contraction, increased small
vessel permeability and increased secretion of mucus


2. List the common allergens and their presenting features in children

Food intolerance has previously been discussed.

Eczema this can be atopic or non-atopic. Atopic eczema is classified as
an allergic disease and many affected children will have a family history of
allergy, at least 50% develop other allergic diseases and IgE antibodies to
common allergens are present. There is a close relationship between
eczema and food allergy, particularly in young infants with severe
disease; up to 40% of them have an IgE mediated food allergy, in
particular egg allergy. The core symptom is puritus with rash and
excoriations. These areas are dry and may show lichenification.

Allergic rhinitis and conjunctivitis This can again be atopic or non-atopic.
It can be classified as intermittent or persistent and mild or severe. It
affects up to 20% of children and can severely disrupt their lives. It is
associated with eczema, sinusitis and adenoidal hypertrophy and is
closely associated with asthma.

Asthma affected children often have IgE antibodies to aeroallergens.
Allergen avoidance is difficult to achieve.

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Urticaria and angioedema usually in response to an allergen or viral
infection. It involves deeper skin tissue to produce swelling of the lips and
soft tissue around the eyes and even anaphylaxis. Chronic urticaria >6
weeks is usually not allergic. It results from a local increase in the
permeability of capillaries and venules. These changes are dependent on
activation of skin mast cells.

Drug allergy only a minority who are labelled as allergic actually are.

Insect sting hypersensitivity this arises from bee or wasp stings but also
from ant bites in the USA, Asia and Australia. This allergy can be mild
(local swelling), moderate (generalised urticarial) or severe (systemic
symptoms with wheeze or shock). Children with a previous mild reaction
are unlikely to develop a severe reaction.


3. Outline initial investigations and management of common allergies

Investigations are usually a detailed clinical history in addition to blood
tests to check for markers of hypersensitivity. Other simpler tests such as
introducing the stimulus into the patient in controlled conditions may
work. Patch testing can be done for cutaneous allergies.

Management depends on the allergy but is generally the use of
antihistamines if needed along with steroids. An epipen must be provided
if severe anaphylaxis occurs in patients. There is also the option for
systemic desensitisation for a few common allergies.


Drug Reaction

1. Recognise the importance of drug reactions and the common ones seen
in children

Antibiotics penicillin and cephalosporins
Local anaesthetic (lidocaine)
Analgesics (aspirin, NSAIDSs ibuprofen)
Opiates codeine, morphine
Dextran
Radiocontrast media


2. Understand how to report severe reactions

There is a form called the yellow card that should be submitted with the
details of the incident to the medicines and healthcare products
regulatory agency.
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3. Outline the immediate treatment of drug reactions and be aware of
resources available to assist management

Stop using the drug that is thought to be the cause
Start a new drug if the existing condition needs urgent treatment
Consider altering the dose or temporarily stopping the drug
treatment
Consider the effects of drug-drug interactions
Consider the possibility of withdrawal effects if withdrawn too fast
Provide treatment for the allergy include ABC and medication as
necessary


HIV

1. Outline the epidemiology both in the worldwide setting and the UK

Globally HIV affects over 2.5 million children, mostly in sub-Saharan
Africa (2.3 million) and there are still 380,000 children becoming infected
each year. The major route is mother to child transmission which occurs
during pregnancy, at delivery or through breast feeding. The virus can
also be transmitted to children by infected blood products, contaminated
needles or through child sex abuse, but this is uncommon. In comparison
there are only 1400 children living with HIV across all of Western Europe.


2. Outline the short and long term risks

Short and long term
Opportunistic infections TB, PCP, Toxoplasmosis, MAC, VZV, HSV,
CMV, Candida
Blood problems thrombocytopenia, anaemia, neutropenia
Diet high energy, high protein

Long Term
Compliance
Failure to thrive
Risk of transmission
HIV encephalopathy
Neuropathy and myelopathy
Cancers Kaposis sarcoma, Non-Hodgkins lymphoma


3. Understand the prevention and treatment options

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Prevention is outlined in the neonatal section and involves reducing the
mothers viral load along with caesarean section and no breast feeding.
This reduces the risk to 2%.

Treatment of HIV revolves around the decision to start antiretroviral
therapy (ART) which is based on a combination of clinical status, HIV viral
load and CD4 count, except in infants who should start ART shortly after
diagnosis, because they have a higher risk of disease progression. As in
adults a combination of three or four drugs are used. Prophylaxis against
PCP with co-trimoxazole is prescribed for infants who are HIV infected and
for older children with low CD4 counts. Other aspects of management
include:
Immunisation which is important because of the higher risk of
infections, and should follow the routine vaccination schedule, with
the exception of BCG which should not be given as it is live and can
cause disseminated disease. In addition to these a vaccine against
influenza, hepatitis A, B, and VZV should be considered
Multidisciplinary management of children in a family clinic with
other infected members should be done
Regular follow up with particular attention paid to weight,
neurodevelopment and clinical signs of disease.


Infectious Mononucleosis

1. List the clinical features

Acute infectious mononucleosis presents with a history of 1-2 weeks of
fatigue and malaise, however onset may be abrupt. The incubation period
in adolescents is 30-50 days but is shorter in younger children. Symptoms
include a sore throat, headache, fever, myalgias, nausea and abdominal
pain. Sore throat is the most frequent presenting symptoms, gradually
worsening over the first week. It may be the most severe sore throat the
patient has experienced. Headaches usually occur during the first week
and may be retro-orbital. LUQ pain may be due to splenic enlargement
and severe abdominal pain may indicate splenic rupture. Symptoms
usually persist for 2-3 weeks but fatigue is often prolonged. Infants and
young children with primary infection are usually asymptomatic.

Physically EPV is characterised by pharyngitis, generalised
lymphadenopathy and hepatosplenomegaly. Children younger than 4
years frequently have splenomegaly or hepatomegaly, rash and
symptoms of an URTI. More than 90% of patients develop fever which is
more severe in the afternoon, typically peaking at 38-39
o
C but may reach
40
o
C. Fever resolves over 10-14 days. Pulse is normal and tachycardia is
unusual.

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2. Be aware of the complications and treatment

Infectious mononucleosis is a self-limiting illness that does not usually
require specific therapy. Because of low transmissibility of EBV isolation is
not indicated. Inpatient therapy for medical and surgical complications
however may be required. Surgically the main problem is splenic rupture
so the spleen may need removing. With the fatigue patients should avoid
contact sport or heavy lifting for at least 2-3 weeks to avoid splenic
rupture.

Complications include:
Hepatitis 90%
Jaundice 5%
Mild thrombocytopenia 50%
Haemolytic anaemia 0.5-3%
Upper airway obstruction due to tonsil hypertrophy 0.1-1%
Splenic rupture 0.1-0.2%
Neurological complications 1%
Many neurological conditions including coma, meningitis,
encephalitis, cranial nerve palsies etc
Myocarditis and pericarditis
Reye syndrome
Chronic fatigue syndrome


Kawasaki Disease

1. List the diagnostic criteria

NICE guidelines say a child has Kawasaki disease if they have a fever of
38
o
C or above for more than five days along with at least 4 of the
following key symptoms:
Conjunctival injection in both eyes
Change to the mouth or throat such as dry cracked lips or a red
swollen tongue
Changes to the skin on the arms or legs such as swelling, redness
or peeling skin
A rash
Swollen lymph nodes of the neck


2. Recognise the presenting features

Kawasaki disease is a rare condition that mainly affects children under 5
years of age. It causes a severe high fever that does not respond to
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medication and a variety of virus like symptoms. The symptoms
Kawasaki disease usually develop in three phases.

Phase 1 acute (weeks 1-2)

During the acute phase the childs symptoms will appear very suddenly
and can often be severe. These are high fever, conjunctival injection,
rash, changes in hands and feet, swollen lymph glands and changes to
the lips, mouth and tongue (red, dry, cracked, peeling, swollen or
bleeding)

Phase 2 sub-acute (weeks 3-4)

During this phase the symptoms will become less severe but may last
longer. The fever should subside but there may be persistent irritability
and considerable pain. The symptoms during this stage may include
peeling skin, abdominal pain, vomiting, diarrhoea, urine that contains
puss, lethargy, headache, joint pain and jaundice. It is in this phase that
complications such as coronary artery aneurism are likely to develop.

Phase 3 Convalescent (weeks 4-6)

The child will begin to recover and all signs of illness should disappear.
However the child may still lack energy and is easily worn out during this
time. Occasionally complications can also occur in this phase.


3. Be aware of the investigations and treatment options

There is no diagnostic test and the diagnosis is based on clinical findings.
However there can be inflammation of the BCG injection site. They have
high inflammatory markers (CRP, ESR, WBC) with a platelet count that
rises typically in the second week of illness. An aneurysm is most likely to
develop within the first 6 weeks (in 1/3 people) and can be visualised on
echocardiography. Subsequent narrowing of the vessels from scar
formation can cause an MI and sudden death, mortality is 1-2%.

Prompt treatment with IVIG is given within the first 10 days to reduce the
risk of aneurysm. Aspirin is used to reduce the risk of thrombosis and is
given at a high anti-inflammatory dose until the fever subsides and
inflammatory markers return to normal, and continue at a low dose until
echo at 6 weeks is normal. If the platelet count gets very high then
antiplatelet agents may be used. If there is a large aneurysm then long
term warfarin therapy may be needed. If the fever recurs then a second
dose of IVIG is needed. Persistent inflammation and fever may require
treatment with infliximab, steroids or ciclosporin.

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4. List the long term complications

Aneurysm occurs in up to 33% which can lead to death. Up to 25% of
untreated children may experience complications associated with their
heart. These children are at a higher risk of developing cardiovascular
complications later in life.


Immunosuppression

1. Appreciate the causes of immunosuppression in children

Immunosuppression involves an act that reduces the activation of efficacy
of the immune system. In general there is deliberate suppression of the
immune system to prevent the body from rejecting an organ transplant,
treating graft versus host disease or after a bone marrow transplant. It
can also be used when treating an autoimmune disease such as Crohns
diseases or rheumatoid arthritis. This is typically done with drugs but may
involve splenectomy or radiation. Immunosuppression can be divided into
deliberate and non-deliberate:

Deliberate immunosuppression includes the use of drugs and in ideal
circumstances these should not cause immunodeficiency, but can lead to
it and increase the likelihood of infection and decreased cancer
surveillance. Common reasons to use these in children are a bone marrow
transplant and any organ transplantation.

Non-deliberate immunosuppression can occur due to malnutrition, aging,
certain types of cancer (leukaemia, lymphoma, and multiple myeloma)
and certain infections leading to AIDS. This can also be due to an
undesirable effect of drugs used to treat other conditions.


2. Outline a strategy for prevention and treatment of infection

Strategies should be similar to those outlined in the objective below.
Immune levels need monitoring if deliberately suppressed and there
should be prophylactic antibiotic cover as well as a decreased threshold
for IV treatment.

With non-deliberate immunosuppression there needs to be treatment of
the cause, if possible, as well as antibiotic cover.


Immunodeficiency

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1. List the main causes of immunodeficiency

This group of diseases refers to defective immune function, these
disorders are characterised as either:
Primary (uncommon) an intrinsic defect in the immune system
that is present at birth and is either inherited or congenital. Most
commonly they are due to mutation on genes associated with
immunological functions, most are autosomal recessive, with a few
being autosomal dominant or x-linked.
Secondary (more common) caused by another disease or
treatment, such as an intercurrent bacterial or viral infection,
malignancy, malnutrition, HIV infection, immunosuppressive
therapy, splenectomy or nephrotic syndrome.

Immunodeficiencies are characterised by infections that sent to be
Serious, Persistent, Unusual and Recurrent (SPUR). The type of defect
often relates to the infections seen in that disease.

T-cell defects

These are severe and/or unusual viral and fungal infections and failure to
thrive in the first months of life e.g. severe bronchiolitis, diarrhoea, oral
thrust and PCP.

Severe combined immunodeficiency (SCID) a heterogeneous
group of inherited disorders of profoundly defective cellular humoral
immunity altering both T and B cell lymphocytes. It is only treatable
by bone marrow transplantation
HIV infection causes a progressive T cell deficiency
Wiskott-Aldrich a triad with thrombocytopenia and eczema (x-
linked)
DiGeorge with maldevelopment of the 5
th
brachial arch causing
heart defects, placental and facial defects, an absent thymus and
hypocalcaemia
Duncan syndrome inability to make a normal response to EBV and
child either succumbs to infection or develops secondary lymphoma
Ataxia telangiectasia defect in DNA repair, also increased risk of
lymphoma. There is cerebellar ataxia and developmental delay

B-cell defects

In the first 2 years (beyond infancy due to passive immunity) there are
severe bacterial infections, especially of the ear, sinus, skin and
pulmonary system. There is often diarrhoea and failure to thrive.
Recurrent pneumonias can lead to bronchiectasis; recurrent ear infections
to impaired hearing.

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X-linked agammaglobulinaemia abnormal tyrosine kinase gene,
eseential for B-cell maturation
Common variable immunodeficiency (CVID) B cell deficiency, high
risk of autoimmune disorders and malignancy. Later onset than
above
Hyper IgM syndrome B cells produce IgM but prevented from
switching to IgG and IgA
Selective IgA deficiency most common primary immune defect.
Usually asymptomatic or recurrent ear, sinus and pulmonary
infections

Neutrophil defects

Recurrent bacterial infections abscesses (skin, lymph nodes, lung, liver,
spleen, bone), poor wound healing, perianal disease and periodontal
infections; invasive fungal infections such as aspergillosis. Diarrhoea and
failure to thrive. Granulomas from chronic inflammation.

Chronic granulomatous disease most are x-linked recessive, some
autosomal recessive. Defect in phagocytosis as fail to produce
superoxide after ingestion of micro-organism

Leucocyte function defects

Delayed separation of umbilical cord, delayed wound healing, chronic skin
ulcers and dee-seating infection.

Leucocyte adhesion deficiency (LAD) deficiency of neutrophil
surface adhesion molecules leads to inability of neutrophils to
migrate to sites of infection/inflammation

Complement defects

Recurrent bacterial infections, SLE like illness, recurrent meningococcal
infections with deficiency of the terminal complement components.

Early complement component deficiency
Terminal complement component deficiency
Mannose-binding lectin (MBL) deficiency


2. Outline a strategy for prevention and treatment of infection

Management options include:
Antimicrobial prophylaxis for T-cell and neutrophil defects give
cotrimoxazole to prevent pneumocystis jiroveci infection and
itraconazole or fluconazole to prevent other fungal infections. For B-
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cell defects give antibiotic prophylaxis (e.g. azithromycin) to
prevent recurrent bacterial infections
Antibiotic treatment prompt treatment of infections, appropriate
choice of antibiotics and a generally longer courses with lower
threshold for IV therapy.
Screen for end organ disease e.g. CT scan in children with antibody
deficiency to detect bronchiectasis
Immunoglobulin replacement therapy for children with antibody
deficiency and can be given IV so a central venous line may be used
Bone marrow transplantation can be a matched sibling donor,
matched unrelated donor or haploidentical transplant. Used for
SCID and chronic granulomatous disease
Gene therapy for certain forms of SCID but associated with a risk
of leukaemia


Typhoid Fever

1. Have a basic understanding of the clinical features and treatment

A child with worsening fever, headaches, cough, abdominal pain,
anorexia, malaise and myalgia may be suffering from infection with
salmonella typhi or paratyphi. Gastrointestinal symptoms (diarrhoea or
constipation) may not appear until the second week. Splenomegaly,
bradycardia and rose-coloured spots on the trunk may be present. The
serious complications of this disease include gastrointestinal perforation,
myocarditis, hepatitis and nephritis. The recent increase in multi-drug
resistant strains, particularly in the Indian subcontinent, means that
treatment with cotrimoxazole, chloramphenicol or ampicillin may be
inadequate. A third generation cephalosporin or azithromycin is usually
effective. Typhoid is contracted from contaminated drinking water or food.


Malaria

1. Outline the clinical features, including cerebral malaria, and the main
treatment options

Children are the worst affected, especially children aged 6 months to 5
years. In parts of the world where malaria is endemic it may causes as
many as 10% of all deaths in children. The clinical features include fever
(often not cyclical), diarrhoea, vomiting, flu-like symptoms, jaundice,
anaemia and thrombocytopenia. Whilst typically the onset is 7-10 days
after inoculation, infection can present many months later. Children are
particularly susceptible to severe anaemia and the gravest form of the
disease, cerebral malaria. The infection is diagnosed by examination of a
thick film.
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Cerebral malaria is a rapidly developing encephalopathy which only occurs
in 20-50% of people who develop malaria. It occurs when parasites
adhere to the cerebral microvasculature causing blockage. This loads to a
shortage of oxygen to this site and therefore numerous complications.
Around half these patients have elevated ICP and seizures.

Treatment is usually quinine for plasmodium falciparum because of the
emergence of chloroquine resistant strains worldwide. Travellers to
endemic areas should always seek up to date information on malaria
prevention. Prophylaxis reduces but does not eliminate the risk of
infection. Prevention of mosquito bites with repellents and bed nets is also
important. In many countries there has been a marked reduction in the
incidence of malaria in children from insecticide-treated bed nets, indoor
residual spraying of houses with insecticides, destruction of mosquito
larvae and breeding areas and prompt treatment with artemisinin based
combination therapy.


Musculoskeletal

Congenital Dislocated Hip (development dysplasia)

1. Be able to discuss the incidence, risk factors, screening tools,
presentation and basic management

This is a spectrum of disorders ranging from dysplasia to subluxation
through to frank dislocation of the hip. Early detection is important as it
usually responds to conservative treatment. Late identification is usually
associated with hip dysplasia, which requires complex treatment often
including surgery. Neonatal screening is performed as part of the routine
examination of the newborn checking if the hips can be dislocated
posteriorly out of the acetabulum (Barlow manoeuvre) or can be relocated
back into the acetabulum on abduction (Ortolani manoeuvre). These tests
are repeated at 8 weeks of age for routine surveillance. Thereafter
presentation is usually with a limp or abnormal gait. It may also be
identified from asymmetry of skin folds around the hip, limb abduction of
the hip or shortening of the affected leg.

On neonatal screening an abnormality of the hip is detected in about 6-10
per 1000 live births. Most will resolve spontaneously. The true birth
prevalence of DDH is 1.3 per 1000 live births. Risk factors include being
female (6 times more likely), a positive family history (20% of affect
infants), if the birth is breech (30% of affected infants) or if the infants
has a neuromuscular disorder.

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Sometimes an examination may miss DDH so an ultrasound may be done
in some centres where DDH is still suspected in the infant. If DDH is
found then an ultrasound examination will reveal the quality of the hip
and quantity of dysplasia. If the ultrasound is abnormal then the infant
may be placed in a splint or harness to keep the hip flexed and abducted
for several months. Progress is monitored by ultrasound or x-ray. In most
instances a satisfactory response is obtained. Surgery is required if
conservative measures fail.


Osteomyelitis

1. Understand the clinical features, causative factors, investigations,
immediate intervention and management

In osteomyelitis there is infection of the metaphysis of long bones. The
most common sites are the distal femur and proximal tibia but any bone
may be affected. It is usually due to haematological spread of the
pathogen, but may arise by direct spread from an infected wound. The
skin is swollen directly over the affected site. Where the joint capsule is
inserted distal to the epiphyseal plate, as in the hip, osteomyelitis may
spread to cause septic arthritis. Most infections are caused by
staph.aureus, but other pathogens include streptococcus and Hib if not
immunised. Infection due to TB or sickle cell disease need to be
considered.

Presentation is usually with a markedly painful, immobile limb
(pseudoparesis) in a child with an acute febrile illness. Directly over the
infected site there will be swelling and exquisite tenderness, and it may
be erythematous and warm. Moving the limb causes severe pain. There
may be a sterile effusion of an adjacent joint. Presentation may be more
insidious in infants, in whom swelling or reduced limb movement is the
initial sign. Beyond infancy, presentation may be with back pain in a
vertebral infection or with a limp or groin pain in infection of the pelvis.
Occasionally there can be multiple foci.

Investigations should include blood cultures, which are usually positive,
and a white blood cell count and acute-phase reactants which should both
be raised. X-rays are initially normal, other than showing soft tissue
swelling; it takes 7-10 days for subperiosteal new bone formation and
localised bone rarefaction to become visible. Ultrasound may show
periosteal elevation at presentation. An MRI allows identification of
infection in the bone and differentiation of bone from soft tissue infection.
A radionuclide bone scan may be helpful if the site of infection is unclear.

Treatment should be prompt with IV antibiotics for several weeks to
prevent bone necrosis, chronic infection, a discharging sinus, limb
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deformity and amyloidosis. Antibiotics are given IV until there is clinical
recovery and the acute-phase reactants have returned to normal,
followed by oral therapy for several weeks. Aspiration or surgical
decompression of the subperiosteal space may be performed if the
presentation is atypical or in immunodeficiency children. Surgical drainage
is performed if the condition does not respond rapidly to antibiotic
therapy. The affect limb is initially rested in a splint and subsequently
mobilised.


2. Know about atypical presentations; subacute and chronic osteomyelitis

Subacute osteomyelitis

This is a distinct form of osteomyelitis and is difficult to diagnose because
the characteristic signs and symptoms of the acute form of disease are
absent. The disease has an insidious onset, mild symptoms, and lacks a
systemic reaction, and supportive laboratory data are inconsistent.
Subacute osteomyelitis can mimic various benign and malignant
conditions which can delay diagnosis. The presenting symptoms include
mild to moderate localised pain, usually exacerbated by unusual physical
activity. Night pain is common, but relieved by aspirin, and there is
minimal loss of function. On examination there is localised tenderness,
occasionally associated with warmth, redness and soft tissue swelling.
Pain may occur with movement of the adjacent joint and some joint
effusion may be present. The surrounding muscle may show signs of
wasting. The average duration of symptoms before diagnosis is 1-6
months.

Chronic osteomyelitis

If acute osteomyelitis is not treated it can progress to chronic
osteomyelitis, producing permanent damage. Chronic osteomyelitis can
also develop as a complication of pre-existing infection from syphilis. Multi
organism infections are common with chronic osteomyelitis. Symptoms
include bone pain, persistent fatigue, pus draining from a sinus, local
swelling, skin changes, excessive sweating and chills.


3. Be aware of risks of undertreated/untreated infection

Left untreated this condition can spread to other bones, causing
widespread infection, sepsis and even death. With chronic disease there is
destruction of bone which is permanent and may result in the need for
amputation due to poor vascularisation of the remaining bone.


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Septic Arthritis

1. Describe the epidemiology, aetiology, pathogenesis, clinical features,
investigations and management

Septic arthritis is a serious infection of the joint space, as it can lead to
bone destruction. It is most common in children <2 years old but an
actual incidence is not known. A higher incidence is seen in boys. It
usually results from haematological spread but may also occur following a
puncture wound or infection skin lesions, e.g. chickenpox. In young
children it may result from spread from adjacent osteomyelitis into joints
where the capsule inserts below the epiphyseal growth plate. Usually only
one joint is affected with the hip being a particular concern in young
children and infants. Beyond the neonatal period the most common
organism is staph.aureus and usually only one joint is affected. Hib used
to be an important concern and often presented at multiple sites, however
the introduction of the Hib vaccine has seen these cases drop. Underlying
illnesses such as immunodeficiency and sickle cell disease should be
considered.

Presentation is usually with an erythematous, warm, acutely tender joint
with a reduced range of movement, in an acutely unwell, febrile child.
Infants often hold their limbs still (psuedoparesis and pesudoparalysis)
and cry if it is moved. A joint effusion may be detectable in peripheral
joints. In osteomyelitis, although a symptomatic joint effusion may be
present, the tenderness is over the bone, but in up to 15% there is
coexistent septic arthritis. The diagnosis of septic arthritis of the hip can
be particularly difficult in toddlers as the joint is well covered by
subcutanoues fat. Initial presentation may be with a limp or pain referred
to the knee.

Investigations will show a raised white cell count and acute-phase
reactants. Blood cultures must be taken. An ultrasound of the deep joints,
such as the hip, is helpful to identify an effusion. X-rays are used to
exclude trauma and other bony lesions. However, in septic arthritis, the
x-rays are initially normal, apart from widening of the joint space and soft
tissue swelling. A bone scan may be helpful and an MRI may demonstrate
an adjacent osteomyelitis. Aspiration of the joint space under ultrasound
guidance for organisms and culture is the definitive diagnosis. Ideally this
is performed immediately unless it would significantly delay the
administration of antibiotics.

Treatment is a prolonged course of antibiotics, initially IV. Washing out of
the joint or surgical drainage may be required if resolution does not occur
rapidly, or if the joint is deep seated such as at the hip. The joint is
initially immobilised in a functional position, but subsequently must be
mobilised to prevent permanent deformity.
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2. Be aware of special cases such as neonates, hip joint involvement,
various organisms (such as tuberculosis), and septic arthritis in
immunocompromised patients

Hip involvement see above

Neonates staph.aureus is most common but E.coli and group B strep
also cause disease

TB a rare cause of chronic pyogenic arthritis and can affect the spine

Immunocompromised

Fractures

1. Understand common types of fractures and principles of management

Firstly it should be noted that fractures can be a sign of NAI, especially in
those below 30 months. The most common signs of NAI fractures are ribs
(posterior), long bones such as the humerus (especially if the child is not
yet mobile), those with multiple fractures and those with complex skull
fractures. It is also important to rule out conditions such as osteogenesis
imperfect and copper deficiency that lead to a higher chance of fractures.

The epidemiology of fractures is different from adults. The risk of fracture
increases with age and boys are more likely to sustain one. Trauma whilst
playing sports or from playing events are the causes of the majority of
fractures. The most common location is the upper extremities and
includes:
Distal forearm 22.7%
Hand, phalanges 18.9%
Carpal-metacarpal 8.3%
Clavicle 8.1%: immobilise with a sling for 4-6 weeks
Ankle 5.5%

The management principles are to control haemorrhage, treat pain,
prevent limb ischaemia and remove potential sources of contamination.
Once this has been done the fracture should be reduced and the reduction
maintained. These should then be immobilised and splinted before being
cast.


Juvenile Idiopathic Arthritis

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1. Outline the classification/subtypes of JIA including differences between
these

This is the commonest chronic inflammatory joint disease in children and
adolescents in the UK. It is defined as persistent joint swelling (of >6
weeks duration) presenting before 16 years of age and in the absence of
infection or any other defined cause. It has a prevalence of 1 in 1000
children. There are numerous different subtypes and the disease is
classified by the number of joints affected in the first 6 months:
polyarthritis (>4) and oligoarthritis (4 or less) or systemic (with fever and
rash). Features in the history are gelling (stiffness after periods of rest),
morning joint stiffness and pain. Initially there may be only minimal
evidence of joint swelling but subsequently there may be joint swelling
and inflammation. Long term there can be bone expansion from
overgrowth which can cause various deformities as well as causing
advanced bone age. The types are as follows:

Oligoarthritis persistent (49%)
Age of onset 1 to 6 years
Sex ratio (F:M) 5:1
Articular pattern 1-4 (max) joints involved; knee, ankle or wrist
are the most common
Extra-articular features chronic anterior uveitis in 20%, leg length
discrepancy.
Laboratory abnormalities ANA+/-
Prognosis - Excellent

Oligoarthritis extended (8%)
Age of onset 1 to 6 years
Sex ratio (F:M) 5:1
Articular pattern >4 joints involved after first 6 months. An
asymmetrical distribution of large and small joints
Extra-articular features Chronic anterior uveitis in 20%,
asymmetrical growth.
Laboratory abnormalities ANA+/-
Prognosis - Moderate

Polyarthritis RF negative (16%)
Age of onset 1 to 6 years
Sex ratio (F:M) 5:1
Articular pattern Symmetrical large and small joint arthritis, often
with marked finger involvement. Cervical spine and
temporomandibular joint may be involved
Extra-articular features Low-grade fever, chronic anterior uveitis
in 5%, late reduction of growth rate.
Laboratory abnormalities None
Prognosis - Moderate
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Polyarthritis RF positive (3%)
Age of onset 10 to 16 years
Sex ratio (F:M) 5:1
Articular pattern Symmetrical large and small joint arthritis, often
with marked finger involvement
Extra-articular features Rheumatoid nodules in 10%, similar to
adult RA.
Laboratory abnormalities RF+ long term
Prognosis - Poor

Systemic arthritis (9%)
Age of onset 1 to 10 years
Sex ratio (F:M) 1:1
Articular pattern Oligoarthritis or polyarthritis. May have aches
and pains in joints and muscles (arthralgia/myalgia) but initially no
arthritis.
Extra-articular features Acute illness, malaise, high daily fever
initially, salmon pink macular rash, lymphadenopathy,
hepatosplenomegaly and serositis.
Laboratory abnormalities Anaemia, raised neutrophils and
platelets, high acute-phase reactants
Prognosis Variable to poor

Psoriatic arthritis (7%)
Age of onset 1 to 16 years
Sex ratio (F:M) 1:1
Articular pattern Usually asymmetrical distribution of large and
small joints, dactylitis
Extra-articular features Psoriasis, nail pitting or dystrophy, chronic
anterior uveitis in 20%
Laboratory abnormalities None
Prognosis Moderate

Enthesitis-related arthritis (7%)
Age of onset 6 to 16 years
Sex ratio (F:M) 1:4
Articular pattern Lower limb, large joint arthritis initially, mild
lumbar spine or sacroiliac involvement later on
Extra-articular features Enthesitis which is localised inflammation
at insertion of tendons or ligaments into bones, often at the feet
(Achilles insertion). There is occasional acute uveitis
Laboratory abnormalities HLAB27+
Prognosis Moderate

Undifferentiated arthritis (1%)
Age of onset 1 to 16 years
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Sex ratio (F:M) 2:1 (variable)
Articular pattern Overlapping articular and extra-articular patterns
between 2 subtypes or insufficient criteria for sub-classification
Extra-articular features Variable
Laboratory abnormalities Variable
Prognosis Variable


2. Outline the known associated conditions such as uveitis

Chronic anterior uveitis this is a common but asymptomatic condition
and can lead to severe visual impairment. Regular ophthalmological
screening using a slip lamp is indicated, especially for children with
oligoarticular disease.

Flexion contractures of the joints these occur when the joint is held in
the most comfortable position, thereby minimising intra-articular
pressure. Chronic untreated disease can lead to joint destruction and the
need for joint replacement.

Growth failure this may be generalised from anorexia, chronic disease
and system corticosteroid therapy. May also be localised overgrowth such
as leg length discrepancy due to prolonged active knee synovitis and
undergrowth, such as micrognathia, usually seen in long-standing or sub
optimally treated arthritis due to premature fusion of epiphyses.

Constitutional problems anaemia of chronic disease, delayed puberty

Osteoporosis multifactorial aetiology, including diet, reduced weight
bearing, systemic corticosteroids and delayed menarche. Reduced risk by
dietary supplements of calcium and vitamin D; regular weight bearing
exercises; and minimise oral corticosteroids use and sometimes
bisphosphonates.

Amyloidosis very rare now, causes proteinuria and subsequent renal
failure and has a high mortality.


3. Appreciate the role of the multidisciplinary team members during the
management of these patients

All children suspected of having JIA should be managed by a specialist
paediatric rheumatology multidisciplinary team, often working in shared
care with local hospitals.


4. Understand common drugs used and importance of treatment
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NSAIDs and analgesia do not modify disease but help relieve symptoms
during flares

Joint injections these are increasingly being done under ultrasound
guidance as it is more effective. These are first-line treatment for
oligoarticular JIA; in polyarticular disease multiple joint injections are
used as bridging agents when starting methotrexate. These often require
sedation with inhaled anaesthesia (Entonox)

Methotrexate early use reduces joint damage. It is effective in
approximately 70% with polyarthritis, less effective in systemic features
of JIA. It is given as a weekly dose (tablet, liquid or injection) and regular
blood monitoring is required (for abnormal liver function and bone
marrow suppression). Nausea is common.

Systemic corticosteroids avoid if possible, to minimise the risk of growth
suppression and osteoporosis. Pulsed IV methylprednisolone often used
for severe polyarthritis as an induction agent. It may be life-saving for
severe systemic arthritis or macrophage activation syndrome.

Cytokine modulators and other immunotherapies Many agents (e.g.
anti-TNF alpha, IL-1, CTLA-4 or IL-6) are now available and useful in
severe disease refractory to methotrexate. Costly and given under strict
national guidelines with registries for long-term surveillance. T-cell
depletion coupled with autologous haematopoietic stem cell rescue (bone
marrow transplant) is an option for refractory disease.

The child should also be encouraged to take part in all activities apart
from contact sports during active flares. With optimal care most children
can be managed as outpatients.


5. Be aware of outcome measures used

Long term studies have shown that at least 1 in 3 children will have
ongoing active disease into adult years, with significant morbidity from
previous inflammation, such as joint damage requiring joint replacement
surgery, visual impairment from uveitis, or fractures from osteoporosis.

Outcome measures include clinical damage, quality of life and measures
of physical function.


Perthes Disease

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1. Outline the aetiology, presentation, investigations, prognosis and basic
management

This is an avascular necrosis of the capital femoral epiphysis of the
femoral head due to interruption of the blood supply, followed by
revascularisation and reossification over 18-36 months. It mainly affects
boys (M:F = 5:1) of 5 to 10 years of age. Presentation is insidious, with
the onset of a limp, or hip or knee pain. The condition may initially be
mistaken for transient synovitis. It is bilateral in 10 to 20%. If suspected
x-rays of both hips (including frog views) should be requested; early signs
of Perthes include in