Gene Study may Explain why Autism is more Prominent in Boys than Girls

Many have wondered why more boys are diagnosed with autism spectrum disorders (ASDs) than girls. Yet a recent study analyzed DNA in order to further examine why boys have a higher incidence rate of ASDs. The research found that girls appear to be better at tolerating certain mutations than boy.

"Girls tolerate neurodevelopmental mutations more than boys do. This is really what the study shows," said study author Sebastien Jacquemont, an assistant professor of genetic medicine at the University Hospital of Lausanne, in Switzerland, reported, via WebMD. "To push a girl over the threshold for autism or any of these neurodevelopmental disorders, it takes more of these mutations. It's about resilience to genetic insult."

For the study, researchers from Switzerland and the University of Washington School of Medicine received close to 16,000 DNA samples and sequencing sets to analyze. The samples were from people with neurodevelopmental disorders. The researchers also analyzed genetic data that was provided from nearly 800 families that had ASDs.

The results showed that girls with a type of neurodevelopmental disorder had more CNVs than males who had the same condition. For autism, girls had more harmful SNVs than males with autism did.

According to the United States Centers for Disease Control and Prevention (CDC), boys have a one in 52 chance of being diagnosed with ASDs. For girls, that rate is one in 252.

"There's a well-known disparity when it comes to developmental disorders between boys and girls, and it's been puzzling," Jacquemont added. "And there have been quite a bit of papers trying to investigate this bias that we've seen in the clinic."

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The study was published in the American Journal of Human Genetics.