AUTISM SPEKTRUM DISORDERS (GANGGUAN SPEKTRUM AUTISME)

Monday, November 24, 2008


 

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


à 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


à 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


à 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

A. 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

B. 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


 

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