HealthDay News — A genetic mutation that increases the risk for a certain form of autism and causes specific physical traits and symptoms has been identified, researchers reported in the journal Cell.

Raphael Bernier, PhD, clinical director of the Autism Center at Seattle Children’s Hospital and associate professor at the University of Washington, and colleagues looked at more than 6,000 children with autism and found that 15 had a CHD8 gene mutation.

All 15 of those children had similar physical characteristics — such as larger heads and prominent foreheads — and symptoms such as sleep disturbances, constipation, and other gastrointestinal problems.

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The finding may eventually enable doctors to do pre-birth testing for the CHD8 gene mutation in order to identify babies who are at risk for autism, according to the study authors.

“This is a big leap forward in our insight into the causes of autism,” Bernier said in a hospital news release. “It’s possible we may be able to look at features in utero and determine a higher risk of autism, possibly even early detection. Children with autism are incredibly diverse so we must determine the genetic causes of different subtypes to find effective treatments.”


  1. Bernier R et al. Cell. 2014; doi: