Genetic Risk Factors for Autism

Researchers have made an important step forward in understanding the complex genetic structure of autism spectrum disorders. A researcher collaboration, including geneticists from the University of Pennsylvania School of Medicine and The Children’s Hospital of Philadelphia (CHOP), have detected variations along a genetic pathway that is responsible for neurological development, learning and memory, which appears to play a significant role in the genetic risk of autism. Their findings were published online in the journal Nature on April 28.

Evidence suggests there is a strong genetic component increasing the likelihood of an autism diagnosis, estimated to impact 1 in 150 children in the United States. The study findings suggest that a particular genetic variation, found on a cluster between CDH10 and CDH9, is commonly found in children with autism, according to co-senior author Dr. Gerard Schellenberg, professor of pathology and laboratory medicine at the School of Medicine.

“We studied more than 10,000 children­—of whom more than 4,500 had been diagnosed with an autism spectrum disorder—and found a common genetic variation that increases the risk of a child developing autism, along with a rarer genetic change that contributes to some cases of autism,” Dr. Schellenberg said. “This work yields important clues on what goes awry during development in children with autism and will help us focus on what is the cause of autism at a molecular level.” Cont...

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