Department of Pediatrics Division of Genetics and Metabolism

General Information about the "genetic" evaluation of autism

Center for Autism and Related Disabilities, Jacksonville

The genetic evaluation of children with autism is variable, depending on many factors including the age at the time of referral, findings gleaned from the family and medical history, and the results of the physical examination. The outline presented below is the approach that I use in my clinics and in the Jacksonville CARD program. Currently, it is not very beneficial to perform extensive metabolic or gene screening tests since the great majority of children with autism either have an unidentifiable cause for their autism or have a disorder detectable by the routine evaluation and medical testing listed here.

Routine evaluation and medical testing

Medical record review
Obtain family pedigree
Perform physical examination
  Growth measurements?
  Any unexpected feature (e.g., ataxia)?
Laboratory testing
  Comparative genomic hybridization (CGH) study
  Molecular Fragile X

Non-routine testing (only when warranted)

Metabolic tests
  Urine organic acids
  Serum amino acids
  Other metabolic tests
    Acylcarnitine profile
    Creatine and uric acid study
Brain MRI, spectroscopy
Advanced chromosome/genomic studies
  Higher density platforms for CGH study
  Specific gene DNA sequencing

Charles Williams, MD
edit 1-06-2010