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Scientists find the first definitive genetic link to autism

With more people being diagnosed with autism spectrum disorder every year, there’s been a debate as to whether autism is getting more prevalent or whether it’s just being diagnosed more, and whether autism is genetic or caused by environmental conditions. The second part of that question seems to have been answered now that scientists have definitively linked autism to certain genes.

It’s the first time researchers have pinpointed a specific genetic component with the spectrum of disorders, which includes Asperger’s. They also found that the risk is higher in older parents, in particular new fathers over 35. The findings are published in three papers in the journal Nature.

The mutations are rare and account for a small number of actual cases, which have reached the alarming rate of one in every 88 children, according to a Centers for Disease Control and Prevention report released last week. Despite the small numbers, the discovery of the mutations is significant because it gives scientists a road map to further explore Autism’s biology. Follow-up research, The New York Times reports, could uncover enough rare mutations to account for up to 20 percent of Autism spectrum cases.

Some researchers, however, were more cautious about the significance of the research:

“This is a great beginning, and I’m impressed with the work, but we don’t know the cause of these rare mutations, or even their levels in the general population,” said Dr. Aravinda Chakravarti of the Institute of Genetic Medicine at the Johns Hopkins University Medical School, who was not involved in the studies. “I’m not saying it’s not worth it to follow up these findings, but I am saying it’s going to be a hard slog.”


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