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New Study Offers Insight Into DiGeorge Syndrome

Morag Mcgreevey
Jul. 28, 2015 04:08PM PST
Genetics Investing

Children with DiGeorge syndrome, a disorder in which several genes on the 22nd chromosome are deleted, often grow up to develop psychosis or autism spectrum disorder. A new study may help researchers predict which path a child with DeGeorge syndrome may take.

Children with DiGeorge syndrome, a disorder in which several genes on the 22nd chromosome are deleted, often grow up to develop psychosis or autism spectrum disorder. A new study may help researchers predict which path a child with DeGeorge syndrome may take.
According to an article on PsychCentral:

In a new study, researchers at the University of California, Los Angeles (UCLA) and the University of Pittsburgh are the first to suggest a potential way to make that determination in patients with DiGeorge syndrome, also known as 22q11.2 deletion syndrome. They report having isolated specific genetic differences between those with autism and those with psychosis.
Between 30 and 40 percent of individuals with DiGeorge syndrome are diagnosed with a disorder on the autism spectrum, and between 25 and 30 percent are diagnosed with a psychotic disorder. A small number are diagnosed with both autism and psychosis.

Dr. Carrie Bearden, the study’s senior author and a professor of psychiatry and psychology at UCLA, said:

Ultimately, this kind of information could be used as a diagnostic tool that could allow pediatricians or other clinicians to determine who will develop which disorder, so that the appropriate intervention can be applied — and applied early enough to have the most impact.

Click here to read the entire article on PsychCentral.
 

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