Abstract
Autism spectrum disorders (ASDs) which include autistic disorder, Asperger disorder and pervasive developmental disorder-not otherwise specified (PDD-NOS) have gained significant attention because of an apparent increase in incidence. The etiology of ASDs has been an ongoing research endeavor, but compelling data thus far suggest a genetic basis. Several professional organizations, including the American Academy of Pediatrics and the American College of Medical Genetics, recommend genetic testing of children affected with ASDs. However, previous research suggests many children with ASDs are not receiving genetic services. The aim of the current study was to analyze data collected by the Autism Consortium, a collaborative research effort based in Boston, Massachusetts, regarding the frequency of genetic testing among children with ASDs. Specifically, we looked at medical, family and genetic testing histories that were collected between 2006 and 2010, to assess genetic test utilization and to identify factors v influencing receipt of genetic testing. In accordance with other studies, we found that approximately 50% of the 485 research participants did not receive genetic testing. Individuals with autistic disorder or PDD-NOS were more likely to have obtained genetic testing than individuals with Asperger disorder. Accompanying intellectual disability or seizures in the child and/or a family history of intellectual disability increased the likelihood that a child with an ASD would receive genetic testing. However, having a sibling with an ASD or a family history of ASDs did not increase the likelihood of obtaining genetic testing. It is unclear whether the reduced rates of testing overall were due to decision making on the part of the medical providers or the parents. Future research to elucidate the reasons for this lack of testing might lead to an improved ability to educate both care providers and families about the importance of genetic testing for this population.