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

of heartbreak and frustration. While their sons suffered everything from heart defects to learning disabilities, they could only point doctors and teachers to a 1960s scientific paper that first identified the condition along with a few outdated notes on its outcomes.

"We knew we needed a more complete description," said Renee Beauregard, of Aurora, Col., whose 26-year-old son, Kyle, was diagnosed with XXYY syndrome at age 10. "We were tired of having our families running around the country looking for answers from people who didn't have them," said Beauregard, who is also a co-author on the study.

In 2003, Beauregard and other parents turned their frustration into advocacy and established the XXYY Project to support families.

"The more we talked, the more we realized our boys had things in common that were not addressed in the literature," said Beauregard, the project's director. "We had to do something."

The parents had their children take part in the study, and they flew Tartaglia to the United Kingdom so that she could include XXYY boys living there in the research as well.

Now, with more concrete answers, parents like Beauregard and children like Kyle can find some peace of mind.

"Kyle knows that people don't understand XXYY and therefore don't understand him as a person, she said. "The study helps the world know why he is like he is. It validates what he knows about himself and what we know about him. When he can't follow directions, it's not because he's stupid."


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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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