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UC Davis researchers define characteristics, treatment options for XXYY syndrome
Date:8/22/2008

Institute when the study was conducted. "As a result, people with XXYY weren't being screened for the specific medical problems associated with their disorder. They weren't receiving therapies or medications for the behavioral and neurodevelopmental issues that are more profound for them. And they weren't receiving the types of community services that can help them live independent lives. Our research is an important resource for families and practitioners."

For the current study, Tartaglia and Hagerman examined 95 males with XXYY syndrome between the ages of one and 55 years of age. Among their medical findings were that 19.4 percent had cardiac abnormalities such as congenital heart defects and mitral valve prolapse, 87.6 percent had dental problems such as severe dental caries and malocclusion, 15 percent had seizures and 59.8 percent had asthma or other respiratory issues. Intention tremor became more common with age and was present in 71 percent of study participants over 20 years old. 45.7 percent who underwent brain MRIs showed abnormal white matter that may explain some learning difficulties.

Psychologically, the researchers found that 72.2 percent had attention-deficit/hyperactivity disorder and up to 28.3 percent had autism spectrum disorders. In the previous literature, mental retardation was the norm. This study, however, found that only 29.1 percent had IQ scores within the mental retardation range. Learning disabilities were the more common cognitive impairments, affecting 70.9 percent of study participants.

"Life skills are more of a struggle for these males, and they may need different medications, a broader array of behavioral therapies and more intensive community support than those with Klinefelter syndrome," Tartaglia said.

Lack of comprehensive information about the syndrome is what drove the current study. For years, parents of boys with XXYY syndrome supported each other over the Internet, sharing stories
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Contact: Phyllis Brown
phyllis.brown@ucdmc.ucdavis.edu
916-734-9023
University of California - Davis - Health System
Source:Eurekalert

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