KIDS WITH AUTISM MAY HAVE GENE THAT CAUSES MUSCLE WEAKNESS


From the American Academy of Neurology:

CHICAGO Some kids with autism may have a genetic defect that
affects the muscles, according to research that will be presented at
the American Academy of Neurology 60th Anniversary Annual Meeting in
Chicago, April 12 19, 2008.

The study looked at 37 children with autism spectrum disorders who
were evaluated for mitochondrial disease, which causes muscle
weakness and prevents a child from being able to participate in
physical activities and sports. Mitochondrial disease occurs when
genetic mutations affect the mitochondria, or the part of the cell
that releases energy.

A total of 24 of the children, or 65 percent, had defects in the
process by which cells produce and synthesize energy in the muscles,
or oxidative phosphorylation defects in the skeletal muscles.

"Most children with autism spectrum disorders do not have
recognizable abnormalities when you look at genetic tests, imaging,
and metabolic tests,” said study author John Shoffner, MD, owner of
Medical Neurogenetics, LLC in Atlanta, GA, and member of the American
Academy of Neurology. “But a subset of these children does have
significant defects in this area. Identifying this defect is
important for understanding how genes that produce autism spectrum
disorders impact the function of the mitochondria.”

The study was supported by Medical Neurogenetics, which conducted the
testing.

For more information about the American Academy of Neurology, visit
www.aan.com.

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