Autism Genes Vary, Even in Affected Siblings, Study Finds

Posted: Published on January 28th, 2015

This post was added by Dr Simmons

By Dennis Thompson HealthDay Reporter

MONDAY, Jan. 26, 2015 (HealthDay News) -- Siblings who share a diagnosis of autism often don't share the same autism-linked genes, according to a new study.

Researchers previously have identified more than 100 genetic mutations that can make a person more susceptible to an autism spectrum disorder, said senior author Dr. Stephen Scherer, director of the Center for Applied Genomics at the Hospital for Sick Children in Toronto.

But this study revealed that genes linked to autism can vary among family members who would be expected to be genetically similar.

"We found when we could identify the genes involved in autism, for two-thirds of those families, the children carry different genetic changes," Scherer said. "In one-third, the children had the same genetic change and it was inherited from one of the parents."

The study was published online Jan. 26 in Nature Medicine.

Autism is a developmental disorder in which children have trouble communicating with others and exhibit repetitive or obsessive behaviors. About one in 68 children in the United States has been diagnosed with autism spectrum disorder, according to the U.S. Centers for Disease Control and Prevention.

The study's findings could pave the way toward more accurate diagnosis and earlier treatment for children with a genetic predisposition toward autism, Scherer said.

Previously, if a family had a child with autism, doctors would focus only on the gene related to that child's autism in order to predict whether another sibling also could be at risk, he said.

"We're saying that's the wrong thing to do," Scherer said. "You need to sequence the whole genome, because more likely than not, it's going to be something different." Through such a comprehensive scan, doctors can get children with autism very early treatment, which has been shown to improve their development.

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Autism Genes Vary, Even in Affected Siblings, Study Finds

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