Genetic Link to Autism Found, Known as CHD8 Mutation

8th July, 2014

11 July 2014, Autism, News of the Week, Newsletter, OT, SLP

[Source: Science Daily]
sciencedaily

In a collaboration involving 13 institutions around the world, researchers have broken new ground in understanding what causes autism. The results are being published in Cell magazine July 3, 2014: “Disruptive CHD8 Mutations Define a Subtype of Autism in Early Development.”

“We finally got a clear cut case of an autism specific gene,” said Raphael Bernier, the lead author, and UW associate professor in the Department of Psychiatry and Behavioral Sciences and the clinical director of the Autism Center at Seattle Children’s.

Bernier said people with a mutation in the CHD8 gene have a very “strong likelihood” that they will have autism marked by gastrointestinal disorders, a larger head and wide set eyes.
In their study of 6,176 children with autism spectrum disorder, researchers found 15 had a CHD8 mutation and all these cases had similar characteristics in appearance and issues with sleep disturbance and gastrointestinal problems.
Bernier and his team interviewed all 15 cases with CHD8 mutations.
Read the Rest of this Article on Science Daily

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