A deletion at one end of chromosome 11 is responsible for the rare genetic disorder known as Jacobsen syndrome. Image courtesy of San Diego State University

Researchers at San Diego State University and UC San Diego said Wednesday that they’ve discovered a link between autism and a rare condition known as Jacobsen Syndrome.

At a recent conference in San Diego for children with Jacobsen Syndrome and their parents, the researchers tested 17 patients and discovered that eight registered on the autism spectrum, which is “a much higher rate than the general population,” said SDSU neuropsychologist Sarah Mattson.

The U.S. Centers for Disease Control and Prevention says the current autism rate for children is one in 68.

According to the National Institutes of Health, Jacobsen Syndrome results from the loss of genetic material in a chromosome. While symptoms vary, some of the typical effects are delayed development of motor skills, cognitive impairment and behavioral problems, abnormal bleeding because of blood clotting problems, and distinctive facial features.

UCSD cardiologist Paul Grossfeld, while looking into heart defects associated with the disease, became interested in its cognitive impairments, so he conducted further research with Mattson and UCSD neuropsychologist Natacha Akshoomoff.

Grossfeld, Akshoomoff and Mattson gave the parents behavioral and cognitive questionnaires about their children, and the researchers also observed the youngsters themselves, aided by a diagnostic tool for autism known as the Autism Diagnostic Observation Schedule.

Their results, which were published in the journal Genetics in Medicine, will help parents of children with Jacobsen Syndrome to be aware that their offspring are at a higher risk for autism, Mattson said.

She said the parents can look into early intervention treatments to help their children better understand their particular way of seeing and interacting with the world, as well as strategies for navigating social situations more easily.

The findings will also be of benefit to autism researchers, providing another genetic clue to what drives the cognitive differences in people with the disorder, according to Mattson.

— City News Service

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