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The page below is a sample from the LabCE course Autism Spectrum Disorders: Genetic Testing. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Professional Society Guidelines: CMA Testing for ASD (continued)

The American Academy of Pediatrics (AAP) recommends that all children be screened for developmental delays and disabilities during regular well-child doctor visits at nine months, 18, and 30 months, or whenever a concern is expressed. Additional screening might be needed if a child is at high risk for developmental problems because of preterm birth or low birth weight or is at high risk because of having a sibling with an ASD or if symptoms are present. Autism-specific screening is recommended at ages 18 and 24 months.
The American Academy of Neurology (AAN) and the Child Neurology Society (CNS) base their guidelines on the Centers for Disease Control and Prevention's (CDC's) guidelines, which include the following practice recommendations on genetic testing in children with autism:
  • Genetic testing in children with autism, specifically high-resolution chromosome studies (karyotype) and DNA analysis for fragile X, should be performed in the presence of intellectual disability (or if intellectual disability cannot be excluded), if there is a family history of fragile X or undiagnosed intellectual disability, or if dysmorphic features are present. However, there is little likelihood of positive karyotype or fragile X testing in the presence of high-functioning autism.