Featured Research

from universities, journals, and other organizations

Characteristics, Treatment Options For XXYY Syndrome

Date:
August 24, 2008
Source:
University of California - Davis - Health System
Summary:
Researchers have described the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than the normal one of each.

Researchers at the UC Davis M.I.N.D. Institute and The Children's Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than the normal one of each. The study also offers treatment recommendations for men and boys with the disorder.

"We found that there are a variety of behaviors, learning disabilities and emotional problems that are unique to patients with XXYY syndrome that may be better addressed with more targeted therapies," said Randi Hagerman, medical director of the M.I.N.D. Institute and senior author of the study. "Our research is important because it provides an accurate picture of what patients are experiencing that can help physicians who treat patients with the disorder."

XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. Boys with XXYY syndrome usually come to the attention of physicians because of unique facial features, developmental delays, late puberty and behavioral problems. It was once thought to be a variant of Klinefelter syndrome, in which males have one extra X chromosome. While the two disorders are similar in some ways, clinicians have become increasingly aware that they are distinct in some significant ways. The current study set out to identify the unique features of patients with XXYY for the purposes of informing the medical community and improving treatment approaches.

"Until now, physicians have had to search the medical literature to patch together a treatment plan mostly based on information on Klinefelter syndrome," said Nicole Tartaglia, an assistant professor of pediatrics at the University of Colorado Denver School of Medicine who was a fellow at the M.I.N.D. 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 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."

Funding for the study was provided by the Bonfils-Stanton Foundation, UC Davis M.I.N.D. Institute, The XXYY Project and a Loan Repayment Program grant to Tartaglia from the National Institutes of Health.


Story Source:

The above story is based on materials provided by University of California - Davis - Health System. Note: Materials may be edited for content and length.


Journal Reference:

  1. Randi Hagerman, Nicole Tartaglia, Lindsey Albrecht, Ann Reynolds, Laura Fenton, Judith Ross, Jeannie Visootsak. A new look at XXYY syndrome: Medical and psychological features. American Journal of Medical Genetics Part A, 2008; 146a (12): 1509 DOI: 10.1002/ajmg.a.32366

Cite This Page:

University of California - Davis - Health System. "Characteristics, Treatment Options For XXYY Syndrome." ScienceDaily. ScienceDaily, 24 August 2008. <www.sciencedaily.com/releases/2008/08/080822180744.htm>.
University of California - Davis - Health System. (2008, August 24). Characteristics, Treatment Options For XXYY Syndrome. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2008/08/080822180744.htm
University of California - Davis - Health System. "Characteristics, Treatment Options For XXYY Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/08/080822180744.htm (accessed September 1, 2014).

Share This




More Health & Medicine News

Monday, September 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com
California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

Reuters - US Online Video (Aug. 30, 2014) California lawmakers pass a bill requiring universities to adopt "affirmative consent" language in their definitions of consensual sex, part of a nationwide drive to curb sexual assault on campuses. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
New Drug Could Reduce Cardiovascular Deaths

New Drug Could Reduce Cardiovascular Deaths

Newsy (Aug. 30, 2014) The new drug from Novartis could reduce cardiovascular deaths by 20 percent compared to other similar drugs. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins