Autism

 

  1. Autism is characterised by impairment in verbal and nonverbal communication, imaginative play activity
    and social interaction.
  2. Between 3 in 1,000 and 4 in 10,000 individuals have autism.
  3. Onset is prior to 30 months of age.
  4. Around 80% have learning disability.
  5. Categorised within pervasive developmental conditions which also includes Asperger syndrome, childhood disintegrative disorder and Rett syndrome.
  6. May co-exist with other conditions including: intellectual disability, speech and language conditions,
    anxiety and depression, epilepsy, attention disorders, Tourette syndrome and Down syndrome.
  7. It is important to exclude specific genetic developmental conditions, specifically minor chromosomal
    changes and fragile X syndrome, and autistic-like features of ID.
  8. Autistic features can be the presenting symptoms in ID and other genetic conditions.
  9. Early diagnosis and intervention for a child with autism has been shown to improve outcomes and maximise learning opportunities. While there is no cure, a wide range of specific treatments and
    management strategies are available. Early diagnosis also ensures families and carers have better access to services and professional support.
  10. There is no clear inheritance pattern, however family and twin studies have shown there is a familial
    component to autism and pervasive developmental delay conditions.
  11. As yet there is no known single gene that causes autism and therefore genetic testing is not available.
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Underlying genetic conditions in children presenting with autistic features

  1. Tuberous sclerosis, characterised by epilepsy, DD, depigmented macules
  2. Fragile X syndrome
  3. Chromosomal abnormalities, eg inversions, duplications, 15q deletions
  4. Metabolic conditions
  5. Rett syndrome, characterised by language and motor regression, loss of purposeful movement
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At-risk individuals

  1. Individuals, especially males with:
  2. A close family history of autism or related pervasive developmental delay disorder
  3. Autistic-like features
  4. Tests that may be relevant for individuals with autistic features include:
  5. Karyotype
  6. Fragile X DNA testing
  7. Repeat tests for newborn screening
  8. Refer to:
  9. Paediatrician for assessment of autistic features
  10. Genetics Services if the individual is dysmorphic
  11. Neurologist if regression of psychomotor skills occurs
  12. AGA Peak Body for an appropriate support group (see Contacts, support and testing)
  13. It is estimated that there is a 5% recurrence risk for siblings of children affected with autism.
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