"Autisms" a More Appropriate Term than "Autism," Geneticists Say

Posted on January 27, 2015

There are so many different genetic forms of autism that using the singular term, autism, is misleading, researchers say.

"We believe a better term to use is 'the autisms,' or 'the autism spectrum disorders' (that is, plural)," Dr. Stephen W. Scherer told Reuters Health by email. "There are many different forms of autism. In other words, autism is more of a collection of different disorders that have a common clinical manifestation."

In the U.S., the Centers for Disease Control and Prevention (CDC) estimates that 1 in 68 children (1 in 42 boys and 1 in 189 girls) have an autism spectrum disorder. Recent estimates in Europe, the CDC says, are that one to two percent of children there are affected.

When Scherer's team looked for genetic changes in the entire DNA from 85 pairs of brothers and sisters with ASD and their parents, they found an average of roughly 73 genetic changes per set of DNA - but only 36 of the 85 families (42.4 percent) had mutations that researchers could relate to genes already linked in some way to ASD.

And when they looked at these 36 families, only one-third of the affected brothers and sisters carried the same mutation. Siblings with different mutations showed different autism symptoms, while siblings that carried the same mutations had similar autism symptoms, the researchers reported in Nature Medicine.

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Category(s):Autism spectrum disorders

Source material from Autism Spectrum Disorder


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