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Cause for Autism Sub-Type Found: What Does this Mean for Parents?

Autism sub-type cause found

The autism community is yet again left in awe by science as we are finally given reason to have hope that this disorder will be researched properly. A collaborative study between 34 researchers from 13 institutions worldwide has found the first distinct genetic basis for autism. Want to know more? When I first read about it I did also.

The Science Behind Autism Cause
We have known about the Fragile X gene, CNV’s, and their role in autism for some time, but science has been unable to definitively prove a link between them and autism. The other main genetic association to autism is mutations in DNA altering the function/production of proteins that may lead to autism. This release of the discovery of the CHD8 mutation this month [July 2014] is a clear link to autism. As Raphael Bernier, University of Washington associate professor in the Department of Psychiatry and Behavioral Sciences and the clinical director of the Autism Center at Seattle Children's, said at the press release of these findings, “We finally got a clear cut case of an autism specific gene". Bernier went further to say that, “This will be a game changer in the way scientists are researching autism.”

For this study researchers took 6,176 kids with autism and found that 15 of them had a CHD8 mutation. They all had similar facial characteristics, not to mention sleep disturbances and intestinal problems. Of course that isn’t enough to definitively prove the link; therefore scientist from Seattle Children’s had scientists at Duke University disrupt the CHD8 gene in fish embryos—amazingly the fish born had an increase head size and wide set eyes. As the fish aged they also developed intestinal problems. It took them much longer to digest and pass food. Now, while this mutation seems to be rare, do not discredit what this cause of autism potentially does for the autism community.

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The Potential of this Discovery
Autism is a disorder that is mainly diagnosed based on the behavior that is observed by the child’s parents, teachers and the clinician doing the testing. The discovery of this gene mutations link is a building block in become aware of other gene specific issues that surround autism. Given such information imagine the possibilities. The way our children are diagnosed won’t have to be based on behavior and opinion, instead we will have diagnoses based on actual medical facts, on underlying conditions, with suggestions on how to treat our children from there. We won’t have parents lost in their own tears as they search the internet night after night looking for answers, searching for the path to take. Instead doctors will be able to provide the answers more clearly to parents, not send us on our way with a wish of good luck and no answers to be found.

Doctors and Therapists won’t have to treat all our children the same way while standing and telling us that no two autistic children are the same. We potentially won’t have some mothers crying that the gluten free diet works for their child while other mothers are screaming that it did nothing for theirs. Maybe this discovery will help provide the answers for why that is, just maybe. My son never sleeps, Zain is 10 and I have not had a full night’s sleep since about right at the time of his birth, 3 hours a night maximum is what I get. Could this discovery open the doors to the answer so many of us seek and crave--why doesn’t my child sleep?

Most of us have to use medication on our children that are not FDA approved for children of their age nor approved for use in children with autism, we have no other options. Could this discovery lead to alternative medications to use. Researchers seem to agree, it is said that this discovery “can be used to develop drugs for specific sub-types of autism."

In Closing
With as many new Autism treatments and beliefs that come out, it has to be said that this author tries not to get wrapped up in them all; this however really does excite me. This is a big deal for our community in my opinion, even if the findings are for a rare cause- it is, none the less, a definitive cause and one we didn’t have knowledge of before. When my son was diagnosed years ago research was heading nowhere near where it is today, when my cousin was diagnosed over a decade ago research was heading nowhere near where it was when my son was diagnosed, same with when my niece was diagnosed. I certainly can’t wait to see the direction research is going to be pointing us a decade from now.

Cell - Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
NewsBeat, UW HEALTH SCIENCES: Genetic basis for distinct type of autism uncovered