Over the years, in the quest to find out what, if any one thing causes Autism Spectrum Disorders (ASD), most researchers have been stumped. Now however, scientists from 13 institutions around the world, recently discovered that people with a mutation of the CHD8 gene have a ‘very strong’ likelihood of having autism. This gene mutation comes with some common characteristics, setting it apart from other genes, including gastrointestinal disorders, a larger head and wide set eyes. The team of researchers resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD and managed to identify a total of 15 independent mutations. Beyond individuals with this gene presenting with a high likelihood of ASD diagnosis, the subjects also had like-minded characteristics such as macrocephaly, distinct faces, and gastrointestinal complaints. Lead author of the new research, Raphael Bernier, told Daily Mail, “We finally got a clear cut case of an autism specific gene. This will be a game changer in the way scientists are researching autism.” The only downside to this breakthrough discovery is that fewer than half of all kids with autism, will have the specific kind of autism related to the CHD8 mutation. Still though, this research will likely lead to more findings based on genetic testing, plus of course, the kids with this CHD8 mutation may be able to receive more targeted treatments, earlier on.

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+ Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

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