autism spectrum disorder genetic testing

Twin studies demonstrate a concordance rate in monozygotic twins of 60% to 90% and in dizygotic twins of 0 to 10%.

1– 5 There is familial aggregation, exemplified by a sibling recurrence rate of 2% to 8% and relative recurrence risk of 3 to 15 times the rate in the general population. 1 The increased frequency of diagnosis may be due, at least in part, to broader diagnostic criteria since 1994 and the reporting of autism as a disability since 1992.Īlthough the causes for most cases of ASDs are not currently known, there is an overwhelming number of scientific studies that demonstrate a strong genetic component to the etiologies of autism.

The prevalence of ASDs has recently been estimated by the Centers for Disease Control and Prevention as approximately 5. Affected infants and children demonstrate persistent impairments in expressive and receptive language and social interaction skills that are evident before age 3, as well as a restricted range of interests and stereotypic behaviors. Similar content being viewed by othersĪutism spectrum disorders (ASDs) are a common and heterogeneous group of developmental disorders. Metabolic screening may not be warranted in autism spectrum disorders without more specific indications or additional findings. PTEN gene sequencing should be considered in any child with macrocephaly and autism or developmental delay. Extensive metabolic testing produced no positive results, nor did fragile X DNA testing.Ĭonclusion: The overall diagnostic yield was 10% (7/71). Three females had Rett syndrome, each confirmed by DNA sequencing of the MECP2 gene. Two patients with autism and macrocephaly had heterozygous mutations in the PTEN tumor suppressor gene. Two children had visible chromosome abnormalities (47,XYY 48,XY + 2mar/49,XY + 3mar). Results: The patients included 57 males and 14 females 57 met DSM-IV criteria for autism, with the rest being Asperger or pervasive developmental disorder not otherwise specified. Tiered laboratory testing for the majority of the patients followed a guideline that was developed in collaboration with clinicians at The Autism Center at Children's Hospital, Columbus, OH. For most, referrals occurred after evaluation by a developmental pediatrician and/or psychologist to establish the diagnosis. Methods: We performed a retrospective chart review of 71 unrelated patients with a diagnosis of an isolated autism spectrum disorder seen in a genetics clinic over a period of 14 months. Purpose: To evaluate the yield of genetic testing in children with autism spectrum disorders.

Autism spectrum disorder genetic testing