What is the role of genetic tests in the workup of autism spectrum disorder (ASD)?

Updated: Sep 30, 2019
  • Author: James Robert Brasic, MD, MPH; Chief Editor: Caroly Pataki, MD  more...
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Answer

Practice guidelines from the American Academy of Neurology and the Child Neurology Society recommend genetic testing (eg, with high-resolution chromosome studies and DNA analysis) for fragile X in autistic children who meet any of the following criteria [2] :

  • The child has mental retardation

  • Mental retardation cannot be excluded

  • There is a family history of fragile X or undiagnosed mental retardation

  • Dysmorphic features are present


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