Children who stop breathing during sleep show brain damage

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.

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 may constrict, while the other remains dilated.

At least 70 percent of CCHS children tested possess a mutation of PHOX2B, a gene related to brain structures that control blood vessel diameter. Harper hypothesizes that the mutated gene prevents normal development of these regions, resulting in narrowing of the blood vessels and inadequate blood flow to the brain sites that control breathing

few years ago, ventilators weren’t available, and CCHS children died young. Now ventilators are enabling these children to live past adolescence, when they often unwittingly kill themselves by falling asleep after drinking alcohol. With proper care, CCHS children are now living into their 30s, marrying and having children of their own.