Reported July 15, 2005

Rare Condition may Hold Clues to Sleep Apnea, SIDS

A rare disorder affecting only about 250 children in the United States may eventually help researchers learn more about sleep-related breathing disorders like sleep apnea and sudden infant death syndrome (SIDS).

Using a new type of MRI that can look deeper into brain tissue than standard MRIs, researchers from UCLA identified brain regions impacted by congenital central hypoventilation syndrome, or CCHS. Children with CCHS don't automatically breathe on their own. Instead, they often have to be reminded to breath. Most require mechanical ventilation at night. They also have problems with other bodily functions that come naturally to healthy people, like urination and heart function.

The UCLA study used the new type of MRI to conduct brain scans on 12 children with CCHS and 28 healthy children who were similar in age and sex. The results showed the CCHS children had significant brain damage in areas of the brain associated with automatic functions like breathing, heart rate, blood pressure, pain, cardiovascular function, urination, thirst, body temperature, and sleep.

The investigators plan to use the findings to help develop new treatments for the condition, such as injecting nerve growth factors into injured areas to help patients regain some of the lost functioning. They also believe they'll learn a lot about more common conditions like SIDS and sleep apnea along the way.

"For a breathing researcher, this syndrome represents a rare opportunity from Mother Nature," says study author Ronald Harper, Ph.D. "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."

SOURCE: Journal of Comparative Neurology, 2005;487:361-371