Autism Research Leads to Gene Discovery That May Help Diagnose & Treat Kids

Here is some extremely interesting news on the autism front: 25 newly identified gene variants have been linked to an increased risk for autism. A study conducted by the Children's Hospital of Philadelphia analyzed DNA from thousands of people with and without autism, and the researchers' findings may soon lead to the ability to predict the risk of autism in children.

Understanding autism’s genetic roots is a critical step, experts say, because it can result in earlier diagnosis and behavioral intervention -- which, ideally, can improve patient outcomes.


The goal of the study was to track down genetic markers of autism, and to that end, the Center for Applied Genomics at The Children's Hospital of Philadelphia collaborated with scientists from the University of Utah and the biotechnology company Lineagen, Inc. In some autism patients, researchers found additional copy number variations (CNVs), which are missing or duplicated stretches of DNA. These CNVs are described as "high impact": each has a strong ability to raise an individual's risk for autism.

According to the study's corresponding author,

Many of these gene variants may serve as valuable predictive markers. If so, they may become part of a clinical test that will help evaluate whether a child has an autism spectrum disorder.

Researchers say identifying these variants may be most useful for parents who already have one child on the autism spectrum -- if their second child has developmental delays, gene testing could help identify whether that child was also likely to be autistic.

Like most studies, there's nothing definitive about this one yet. It doesn't necessarily prove cause and effect, nor does it offer immediate options for existing autism patients. But it sounds like another step in the right direction of unraveling the maddening mystery of autism spectrum disorders, which the CDC says affect as many as one in 88 children in the United States alone. Understanding the complicated effects of these gene pathways will hopefully lead to better diagnoses, and perhaps even treatment options.

Had you heard about this study before? Do you think it sounds like another hopeful advancement in autism research?

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