Imagine raising a child who stops breathing when falling asleep and has to be reminded to visit the bathroom after drinking a Big Gulp. That's the dilemma faced by parents of children born with congenital central hypoventilation syndrome (CCHS). Afflicting about 250 children in the United States, the genetic disease wreaks havoc in areas of the brain that control involuntary actions such as breathing, fluid regulation and heart function.

Now an MRI study by UCLA scientists reveals that these children's brains display stroke-like damage in regions that regulate the cardiovascular system, body temperature and urination. Published July 11 in the Journal of Comparative Neurology, the research holds important clues for unraveling the mysteries of sudden infant death syndrome (SIDS), sleep apnea and numerous other conditions.

"For a breathing researcher, this syndrome represents a rare opportunity from Mother Nature," explained Ronald Harper, Ph.D., principal investigator and professor of neurobiology at the David Geffen School of Medicine at UCLA. "By using CCHS as a model to study how the brain controls breathing, we hope not only to help children born with the disease, but also provide insights into SIDS and sleep apnea.

"These children's brains don't respond to the same cues as the rest of us, which prevents a host of involuntary mechanisms from kicking in," he added. "Younger children have to be reminded to breathe and to go to the bathroom. They will plop down to relax in front of the TV or a video game, start turning blue and not realize they are passing out."

Some children show disruption of the sympathetic nervous system, which regulates cardiovascular function. They have disturbed heart rates and blood pressure, often profusely sweat or shiver, especially at night, and sometimes faint during strenuous bowel movements. A mild fever can worsen breathing problems and quickly grow life-threatening. The pupil of one eye ma
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Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles
11-Jul-2005

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