S14: Central congenital hypoventilation syndrome: Diagnosis and management
Sunday, April 29 | 10:40am-12:10pm| Room Bordeaux
Chair: Ha Trang (France)
Giancarlo Ottonello (Italy)
Matthias Frerick (Germany)
Summary of symposium:
Central Congenital Hypoventilation Syndrome (CCHS) is a disorder of the autonomic nervous system (ANS). Main clinical feature is severe alveolar hypoventilation due by abnormal autonomic central control of breathing. Other ANS-dysfunction related conditions may be associated: digestive agangliosis, neural crests tumors. A mutation of the PHOX-2B gene is found in 90% of the patients.
Alveolar hypoventilation is central in nature, very much dependent of state of wakefulness/sleep and of sleep stage (REM sleep or non-REM sleep). Autonomic dysfunction of many systems are observed, altering heart rate or blood pressure control, oculomotor control, digestive or metabolic control, thermogenesis control…
The aim of this symposium is to provide recent comprehensive mechanisms on the neuronal network controlling breathing and other physiological functions; and on the recognition of clinical and genetic features of the disorder to enhance the diagnosis and treatment approach.
Upon Completion of this CME activity, participants should be able to:
1 Understand the mechanisms of control of breathing and its interactions with the major physiological functions: sleep, cardiovascular function, etc.
2 How to diagnose CCHS: clinical features, genetic findings
3 How to manage CCHS from birth and into adulthood
Neonatologists, pediatricians and ENT surgeons involved with sleep disorders, craniofacial malformations, or rare diseases