Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center

Clin Pediatr (Phila). 2011 Sep;50(9):834-43. doi: 10.1177/0009922811406261. Epub 2011 Apr 27.


The aim was to systematically review genetic testing guidelines in the evaluation of children with autism spectrum disorders (ASDs). The Clinical Report published by the American Academy of Pediatrics (AAP)(1) recommended individualizing the workup, including karyotype and specific DNA testing for fragile X syndrome. A recent publication reported higher rates of abnormalities on CGH microarray (CMA) testing on children with ASD.(2) The medical records of 507 children seen through the Kirch Developmental Services Center were abstracted for genetic testing and factors associated with this testing. Abnormalities were found on karyotype in 2.3% and in DNA for fragile X in 0.04%. The author concludes that the diagnostic yield of the genetic testing was low in this population. Furthermore, their findings support the theory that CMA can be considered as part of the initial genetic screening in children with ASD in most situations. Future studies will need to be done prospectively to evaluate children in a standard fashion.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Child
  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / etiology
  • Child Development Disorders, Pervasive / genetics*
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Female
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics
  • Genetic Testing / methods*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Practice Guidelines as Topic
  • Retrospective Studies