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Finally! A Definite Cause of Autism: Hint it isn’t Vaccines

autistic child

Autism, not caused by vaccines. In fact I’ve written several posts on the genetic clues to autism, now a new study offers more proof that it is purely genetic [at least in some cases]. This is huge because this is the first actual clear cut cause for certain types of Autism [or more accurately certain types of disorders falling under the Autistic spectrum]. It was a collaboration involving 13 institutions around the world — no easy feat either– and now researchers have broken new ground in understanding what causes autism.

“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.

The 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.

The research team interviewed all 15 cases with CHD8 mutations[in order to confirm the findings], researchers worked with scientists at Duke University [the same guys who are famous for their zebrafish modeling]. The researchers disrupted the CHD8 gene in the fish and the fish developed large heads and wide set eyes. They then fed the fish fluorescent pellets and found that the fish had problems discarding food waste and were constipated.

This is huge because [as you may know] the first time researchers have shown a definitive cause of autism to a genetic mutation. Previously identified genetic events like Fragile X [which account for a greater number of autism cases] are associated with other impairments, such as intellectual disability, more than autism making it hard to say in a clear cut manner that Fragile X is a “for sure” cause autism. Although less than half a percent of all kids will have this kind of autism related to the CHD8 mutation, researchers say there are lots of implications from this study.

“This will be a game changer in the way scientists are researching autism,” he said.

The results could lead the way to a “genetics-first approach” that could uncover hundreds more genetic mutations and lead to genetic testing, this could be the link that the researchers need to really crack this open. Genetic testing could be offered to families as a way of guiding them on what to expect and how to care for their child. Currently, autism is diagnosed based on behavior. Anyone who has raised [or is raising] an autistic child knows that time matters when diagnosing and helping an autistic child. But in the near future, genetic testing could be done to not only test for autism, but to tailor treatments for individuals. In the short term, clinicians can pay attention to the small population with this CHD8 mutation and provide targeted treatment.

Researchers say autism has currently been linked to different types of genetic events. The most commonly researched genetic events associated with autism are chromosomal re-arrangements, called “copy number variations,” in which a chunk of chromosome is copied or deleted. But no one rearrangement affects more than 1 percent of all autism cases. So unfortunately while these copy number events are associated with autism, they do not have a definitive link, or as they say among researchers, a “strong penetrance.”

Then there are genetic mutations in which a gene has been disrupted and is not creating the kind of protein it should create. The CHD8 gene mutation is the first gene mutation to show a very strong penetrance linked to a certain subtype of autism. This is big news for those of us who are not only sick of people blaming vaccinations for autism [and wasting money to lobby for that kind of thinking], but this actually offers hope to treat people that fall under the Autistic spectrum.

Most importantly these are people, who can live full semi-normal lives [and really who’s life is really”normal” anyway?]. This isn’t a eugenics thing or even trying to “cure” the disorders, this is offering better ways to screen and help tailor ways to teach and interact with the children. After all anyone with an autistic child knows that they are beautiful people all the same. It’s just so incredible to think that we could now help give them independent and full lives. Sure this may only account for less than 1% of autism cases, but it’s a start and it is finally a definite autism cause.

And as any autism post, suck it anti-vaxxers. It’s disgusting to think you could throw away all that time and money on campaigns “to raise public awareness” just because you are afraid, ignorant, or worse you are trying to make a quick buck off someone who is scared and doesn’t understand how amazing [albeit sometimes difficult to raise] an autistic child can be.

Bernier, R., Golzio, C., Xiong, B., Stessman, H., Coe, B., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A., Schuurs-Hoeijmakers, J., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L., Francescatto, L., Mefford, H., Rosenfeld, J., Bakken, T., O’Roak, B., Pawlus, M., Moon, R., Shendure, J., Amaral, D., Lein, E., Rankin, J., Romano, C., de Vries, B., Katsanis, N., & Eichler, E. (2014). Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development Cell DOI: 10.1016/j.cell.2014.06.017

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