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AUTISM

SPECTRUM
DISORDERS

Dr. Maja P.S.,


Sp.S
Neurologi
department
(AUTISM SPEKTRUM DISORDERS)

• GANGGUAN SPEKTRUM AUTISME


• INTRODUCTION
• - Autism is a behaviour disorder.
- It is a Central Nervous System disease with the
unknown etiology(ies)
- There is growing clinical as well as genetics evidence that
the pathway in CNS
* are aberrant.
• * The incidence is increasing logarithmically
• *At present a worldwide epidemic of autism exists
• ASD :
• 1. Asperger’s syndrome
• 2. Atypical autism
• 3. Pervasive Development Disorder
Unspecified (ICD-10)
(PDD-NOS DSM-IV)
• ETILOGY
• 1. Genetic
• 2. Pre, peri and post natal
• 3. Neuro-anatomic model
• 4. Neuro-chemicals
• 5. Immunologic
• 6. Viral infections

• EARLY DIAGNOSIS
• Under the age of two years
• Means early intervention
• Best results if given before 5-years of age
• The earlier the better
• DIAGNOSIS
• Shared the following characters:

• 1. Qualitative impairment in social interaction


•  as shown by :
* the use of non verbal behaviors such as eye gaze
and body posture to regulate social interaction,
* a failure to develop peer relationships
* a lack of spontaneous showing and sharing interests
• * a lack of social emotional reciprocity
2. Qualitative impairments in social communication
 as shown by:
• a delay in language development without nonverbal compensation
• problems in initiating and sustaining conversations;
• stereotyped use of language
• lack of varied and imaginative of imitative play

3. Restrictited repertoire of interests,behaviours and activities


 as shown by:
• an abnormal over-focus on particular topics
• an adherence to non-functional routines or rituals,
• repetitive
• stereotyped motor mannerisms
• preoccupation with part of objects rather than the whole.
• PARENTAL CONCERNS RELEVANT TO AUTISM
• 1. Communication concerns
. Does not respond to name
. Cannot telll me what she/he want
. Language is delayed
. Does niot follow directions
. Appear deaf at times
. Seems to hear sometimes but not others
. Does not point or wave bye-bye
. Used to say a few words but now does not
•2. Social concerns
• . Does not smile socially
• . Seems to prefer to play alone
• . Gets things for her/himself
• . Is very independent
• . Does thins early
• . Has p[oor eye contact
• . Is in a world of his/her own
• . ignores us
• . Is not interested in other children
• Behavioural concerns
. Tantrum

. Is hypereactive/uncooperative or oppositional
. Does not know how to play with toys
. Gets stuck on things over and over
. Toe-walks
. Has unusual attachments to toys (holding certain
object)
. Lines things up
. Is over sensitive to certain sounds or textures
. Has odd movement patterns
• 4. Absolute indications for immediate further
evaluation
. No babbling by 12 months
. No gesturing (pointing, waving bye-bye, etc) by
12 months
. No single word by 16 months
. No two-word spontaneous (and not just echolalic) by
24 months
• . ANY lost of ANY language or social skills at ANY
• age
• A multidisipinary approach to diagnostic assessment
is required. The teams varies across centres, but
commonly includes:
• - Neuro-paediatrician
• - Child-psychiatrist
• - Clinical psychologist
• - Speech and Language therapist
• - Occupational therapist
• - Physiotherapist
The informations necessary for a diagnosis
includes:
• detailed development history
• parents’ descriptions of the everyday behaviour
and activities of the child
• direct assessment of the child’s social
interaction style and communicative and
intellectual function.
RECOMMENDATIONS FOR INVESTIGATIONS
• 1. Routine Investigations for all cases
• - Speech and language assessment
• - Cognitive / developmental assessment
• - Basic neurological examination
• - Fragile-X and basic chromosome screen (low IQ and dysmorphic
• cases)
• - Wood light
• - Hearing test (BERA)
• - EEG
• 2. Additional test (to be conducted only
when indicated)
- Sleep EEG
- Full neurological examination
- Brain imaging (Ct-scan,MRI)
- Metabolic / immunological tests
- Fulll chromosome screen
- Lead screening
• MANAGEMENT
- Maximize the child’s social , communicative and intellectual
functioning.
- Whatever the underlying approach, structure and an
emphasis on developing communication skills are
important aspects of the preschool and school curriculum
for children with ASD
- Behavioural interventions are needed to reduced
repetitive, stereotyped, self injurious and chalanging
behaviours.
• Medication :
 Current pharmacological treatment does not treat the
cores features of ASD
. Neuroleptics (fluoroperazine and haloperidol)
stereotyped and hyperactivity
SE : dystonic reaction and drowsiness
. SSRIs
Adolescents and adult with Aspergers’ syndrome
. Clomipramine, 5-HT uptake inhibitor
obsessional and compulsive behavours