2,721
edits
Changes
m
→Diagnosis
Sudden infant death syndrome is sometimes theorized to be attributable to sleep apnea.
Congenital Central Hypoventilation Syndrome (CCHS): This very severe condition of abnormally low breathing during sleep is rare and is an inborn condition that involves a specific gene, PHOX2B. This homeobox gene guides maturation of the autonomic nervous system, and loss-of-function mutations lead to the failure of the brain to effectively control breathing during sleep in patients with the syndrome. There may be a recognizable pattern of facial features among individuals affected with this syndrome.
Once almost uniformly fatal, CCHS is now treatable. The children who have it must have tracheotomies and access to mechanical ventilation on respirators while sleeping, but most do not need to use a respirator while awake. The use of a diaphragmatic pacemaker may offer an alternative for some patients. When pacemakers have enabled some children to sleep without the use of a mechanical respirator, reported cases still required the tracheotomy to remain in place because the vocal cords did not move apart with inhalation. This form of central sleep apnea has been called Ondine's curse. People with the syndrome who survive to adulthood need to avoid certain risk factors, such as alcohol use, which can easily prove lethal.
Donate to Apnea Board
