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Researchers Find An Association Between Jacobsen Syndrome And Autism

Update Date: Sep 16, 2014 03:47 AM EDT
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A rare genetic disorder called Jacobsen syndrome is linked with autism, according to a new study. 

Findings of the study urge better treatments options for people with Jacobsen syndrome. The study also offers more clues into the genetic underpinnings of autism. 

According to National Institutes of Health, Jacobsen syndrome affects approximately 1 in 100,000 people. It occurs in a person when there is a deletion at the end of one arm of the 11th chromosome - also known as an 11q terminal deletion. The common symptoms include intellectual disability, abnormal facial development, structural kidney anomalies and congenital heart defects. 

"It became apparent that parents were reporting autism-like features,"  SDSU neuropsychologist Sarah Mattson, said in the press release. 

Every two years, families with children who have Jacobsen syndrome come to San Diego for the 11q conference, where they meet with one another and share the latest findings about the disorder. "Because Jacobsen syndrome is a pretty rare disorder, the conference is extremely helpful for investigating research questions," Mattson explained.

"Because Jacobsen syndrome is a pretty rare disorder, the conference is extremely helpful for investigating research questions," Mattson added in the press release.

The research has been published in the journal Genetics in Medicine.

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