Health & Medicine
Rare Genetic Disorder Connected to Autism
Kathleen Lees
First Posted: Sep 17, 2014 09:18 AM EDT
The rare genetic disorder known as Jacobsen syndrome has now been linked to autism, according to recent findings published in the journal Genetics in Medicine.
Researchers at San Diego State University and the University of California, San Diego, are now suggesting better treatment options for people with Jacobsen syndrome, which also offers more clues into the genetic underpinnings of the complex neurodevelopmental disorder that typically appears during the first three years of life.
The National Institute of Health notes that Jacobsen syndrome is estimated to affect around 1 in 100,000 people. It occurs due to deletion at the end of one arm of the 11th chromosome, also known as the 11q terminal deletion. 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," said SDSU neuropsychologist Sarah Mattson, in a news release. "Because Jacobsen syndrome is a pretty rare disorder, the conference is extremely helpful for investigating research questions."
Every two years, families with children who are affected by the syndrome come to San Diego for the 11q conference, where they meet with one another and share the latest findings about the health issue.
Health officials hope to continue to make headway on the health problem, as well as learn any new connections to autism.
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First Posted: Sep 17, 2014 09:18 AM EDT
The rare genetic disorder known as Jacobsen syndrome has now been linked to autism, according to recent findings published in the journal Genetics in Medicine.
Researchers at San Diego State University and the University of California, San Diego, are now suggesting better treatment options for people with Jacobsen syndrome, which also offers more clues into the genetic underpinnings of the complex neurodevelopmental disorder that typically appears during the first three years of life.
The National Institute of Health notes that Jacobsen syndrome is estimated to affect around 1 in 100,000 people. It occurs due to deletion at the end of one arm of the 11th chromosome, also known as the 11q terminal deletion. 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," said SDSU neuropsychologist Sarah Mattson, in a news release. "Because Jacobsen syndrome is a pretty rare disorder, the conference is extremely helpful for investigating research questions."
Every two years, families with children who are affected by the syndrome come to San Diego for the 11q conference, where they meet with one another and share the latest findings about the health issue.
Health officials hope to continue to make headway on the health problem, as well as learn any new connections to autism.
See Now: NASA's Juno Spacecraft's Rendezvous With Jupiter's Mammoth Cyclone