With autism rates continuing to rise, many researchers are seeking to narrowing down the list of possible causes. It has long been thought to have a genetic component, but researchers in the past weren’t able to identify anything specific that linked only to autism. One DNA mutation linked to autism in the past is “Fragile X,” but has been linked more directly to other issues, such as intellectual disability.

A new study published in July 2014 in the Cell journal introduces the first study linking a subcategory of autism to a specific genetic mutation. In the study of 6,176 children with autism spectrum disorder, 15 of the children had this mutation named CHD8. All of the children with it had similar physical characteristics, including a large head, wide set eyes and digestive issues.

In a follow-up to the study, scientists at Duke University did a zebra fish study, tampering with the CHD8 gene, which made the fish develop large heads and wide-set eyes, and also have trouble with digestion. This confirmed that this specific gene was linked to certain characteristics.

How will this study help with the care of autistic patients? It’s early days still, but it’s possible that information like this will help create specific care for autistic patients through targeted treatment — and it opens a wide world of future research in the connection between genetic mutations and autism. 

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New study links a genetic mutation to autism
A groundbreaking study links a subcategory of autism to a specific genetic mutation called CHD8.