Fragile X syndrome & other causes
of developmental delay

 

  1. Consider a karyotype and DNA test for fragile X syndrome (available on the MBS) in children and
    adults with one or more of the following features:
  2. Developmental delay including intellectual disability
  3. Autistic-like features
  4. Behavioural and emotional problems
  5. Dysmorphic features
  6. Relative with a fragile X mutation
  7. Males are usually more severely affected than females
  8. Refer to Genetics Services for cascade testing of relatives
  9. There is no known single gene that causes autism; genetic testing is not currently available.
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