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Autistic Disorder

Suryadi Susanto
Pediatric Department
Krida Wacana Christian University
Epidemiology
AD (20.6/10,000)
Pathology
Brain structure
At birth until 2mo
head circumference is normal or slightly smaller
than normal
6-14mo
abnormally rapid increase in head circumference
2-4yr increased brain volume
increased volume of the cerebellum, cerebrum,
and amygdala, and marked abnormal growth in
the frontal, temporal, cerebellar, and limbic
regions of the brain
Pathology
Early, accelerated brain growth during the 1st
several years abnormally slow or arrested
growth
areas of underdeveloped and abnormal
circuitry in parts of the brain

Areas of the brain most affected


higher-order cognitive, language, emotional,
and social functions
Etiology
Diverse and complex
Abnormal neuronal and axonal growth
Synapse formation
Myelination
Inheritance patterns
60% concordance rate for monozygotic twins
and no concordance in dizygotic twins
Sex-linked mechanism
4:1 male:female prevalence
Spontaneous paternal or maternal genetic
mutations
Toxic insults in utero
Genetic associations between AD and premature
Clinical Manifestations
Core features:
impairments in 3 symptom domains
Social interaction
Communication
Developmentally appropriate behavior,
interests, or activities

Hallmark symptoms of AD:


Aberrant development of social skills
Impaired ability to engage in reciprocal social
interactions
Early social skill deficits
Abnormal eye contact
Failure to orient to name
Failure to use gestures to point or show
Lack of interactive play
Failure to smile
Lack of sharing
Lack of interest in other children
Verbal Abilities
Nonverbal some speech (e.g., capable of
imitating songs, rhymes, or television
commercials).
Speech might have an odd prosody or intonation
and may be characterized by echolalia pronoun
reversal, nonsense rhyming
Early abnormal language concerns:
absent babbling or gestures by 12mo
absent single words by 16mo
absent 2-word purposeful phrases by 24mo
any loss of language or social skills at any time
Play skills in AD
Symbolic play
Ritualistic rigidity
Preoccupation with parts of objects
Often withdrawn and spends hours in solitary play
Often with restrictive or repetitive interests and behaviors
Tantrum-like rages can accompany disruptions of routine.

Intellectual functioning
Vary from mental retardation to superior intellectual
functioning in select areas (splinter skills, savant
behavior).
Awareness and Sensitivity
Heightened sensitivity:
visual scanning of hand and finger movements
mouthing of objects
rubbing of surfaces

Lowered sensitivity:
diminished responses to pain and lack of
startle responses to sudden loud noises reflect
lowered sensitivity to other stimuli
Diagnosis
Clinical examination

Gold standard diagnostic tools:


1. Autism Diagnostic InterviewRevised (ADI-R)
2. Autism Diagnostic Observation Schedule
(ADOS)
Evaluation
Neuropsychologic and achievement assessment
intelligence testing
verbal and nonverbal (performance) intelligence
adaptive functioning such as the Vineland
Adaptive Behavior Scales
Detailed developmental history
Review of communicative and motor milestones
Medical history
Family history
Current and past psychotropic medications
There is NO scientifically
substantiated association between the
administration of the measles-mumps-
rubella vaccine and the development
of AD
DSM-IV-TR DIAGNOSTIC CRITERIA
FOR AUTISTIC DISORDER
A A total of six (or more) items from (1), (2), and (3), with at
least two from (1), and one each from (2) and (3):
1 Qualitative impairment in social interaction, as

manifested by at least two of the following:


a Marked impairment in the use of multiple nonverbal
behaviors such as eye-to-eye gaze, facial expression,

body postures, and gestures to regulate social


interaction
b Failure to develop peer relationships appropriate to

developmental level
c A lack of spontaneous seeking to share enjoyment,
interests, or achievements with other people (e.g.,

by a lack of showing, bringing, or pointing out


objects of interest)
d Lack of social or emotional reciprocity

2 Qualitative impairments in communication as


manifested by at least one of the following:
a Delay in, or total lack of, the development of
spoken language (not accompanied by an
attempt to compensate through alternative

modes of communication such as gesture or


mime)

b In individuals with adequate speech, marked


impairment in the ability to initiate or sustain a

conversation with others

c Stereotyped and repetitive use of language or


idiosyncratic language

d Lack of varied, spontaneous make-believe play


or social imitative play appropriate to

developmental level
3 Restricted repetitive and stereotyped patterns of
behavior, interests, and activities, as manifested by
at least one of the following:
a Encompassing preoccupation with one or more
stereotyped and restricted patterns of interest
that is abnormal either in intensity or focus
b Apparently inflexible adherence to specific,
nonfunctional routines or rituals
c Stereotyped and repetitive motor manners (e.g.,
hand or finger flapping or twisting, or complex
whole-body movements)
d
Persistent preoccupation with parts of objects

B Delays or abnormal functioning in at least one of the following
areas, with onset prior to age 3 years: (1) social interaction, (2)
language as used in social communication, or (3) symbolic or
imaginative play.

C The disturbance is not better accounted for by Rett's Disorder or


Childhood Disintegrative Disorder.
Differential Diagnosis
Consideration of the various PDD
Mental retardation not associated with PDD
Specific developmental disorders
Early onset psychosis
Selective mutism
Social anxiety
Obsessive-compulsive disorder
Stereotypic movement disorder
Inhibited-type reactive attachment disorder
Childhood-onset dementia
Early Identification
Early identification and intervention better
outcomes

Checklist for Autism in Toddlers (CHAT)

Modified Checklist for Autism in Toddlers (M-


CHAT)
Red Flags
failures to meet age-expected language or social
milestones
unusual use of language or loss of language skills
nonfunctional rituals
inability to adapt to new settings
lack of imitation
absence of imaginary play
Deviations in social and emotional development
decreased eye contact
failure to orient to name 1 year of
lack of joint attentio
age
Treatment
Primary goals:
To maximize the child's ultimate functional
independence and quality of life by minimizing the
core features of the disorder, facilitating development
and learning, promoting socialization, reducing
maladaptive behaviors, and educating and supporting
families

Cornerstones of Treatment
Educational interventions
Behavioral therapies
Habilitative therapies
Pharmacotherapy
increase the ability of persons with AD to benefit
from educational and other interventions and to
remain in less-restrictive environments
Common targets
associated comorbid conditions
problematic behaviors
Aggression
self-injurious behavior
hyperactivity
Inattention
anxiety
mood lability
SELECTED POTENTIAL MEDICATION OPTIONS FOR COMMON
TARGET SYMPTOMS OR COEXISTING DIAGNOSIS IN
CHILDREN WITH AUTISM SPECTRUM DISORDERS
Prognosis
Remain in adulthood
Problems with independent living, employment,
social relationships, and mental health
those with communication abilities can grow
up to live self-sufficient lives in the community
with employment
remain dependent on their family or require
placement in facilities outside the home
Delayed diagnosis can lead to a poorer outcome
Prognosis
Better prognosis
higher intelligence
functional speech
less-bizarre symptoms
Behavior
symptom profile for some children might
change as they grow older
risk of seizures or self-injurious behavior
becomes more common.