Twenty-four (65 percent) of the children included in this study had genetic defects in their skeletal muscles. However, that doesn't mean that 65 percent of children with autism likely have mitochondrial disease. This was a select population of kids with autism, ones that had specifically been referred, because their doctors suspected a problem.
But, Shoffner pointed out that as many as one in five youngsters with autism spectrum disorders have shown signs of mitochondrial disease.
"If you're talking about 20 percent of kids with autism, that's a whole lot of children, and may represent an important segment of the autism spectrum disorder population. And we may be getting a foothold into the underlying cause of autism spectrum disorders," he said, adding, "This is a really important step forward that lets us put effort into understanding the mechanisms of disease."
"This study is a call to action. We need to know what is the real prevalence of mitochondrial conditions in children with autism," said Geraldine Dawson, chief science officer for Autism Speaks. "The more we can identify these subgroups of kids, the more we're going to parse apart the many forms of autism. This gives us clues to etiology."
"If we find that mitochondrial disease is a prevalent condition, having a better understanding of the kinds of symptoms that children may show if they have it might be helpful for parents," she said.
Shoffner said these findings may also open up new avenues of research into potentially more effective treatments for the future.
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