CHEST 2023 On Demand Pass-Critical Updates in Pediatric Sleep-Disordered Breathing

Video Transcription

Video Summary

In this session, the presenters discussed congenital central hypoventilation syndrome (CCHS), a rare genetic disorder that affects the automatic control of breathing and the autonomic nervous system. CCHS is caused by a mutation in the FOX2B gene and typically presents in newborns with recurrent apneas and cyanosis. Patients with CCHS require long-term respiratory support, and the recommended treatment is positive pressure ventilation via tracheostomy. Non-invasive positive pressure ventilation can be considered in older children who are stable and only require ventilation during sleep. The presenters also emphasized the importance of regular monitoring of oxygen saturation and CO2 levels in patients with CCHS to ensure adequate ventilation. They also discussed the potential for obstructive sleep apnea to be a presenting symptom in patients with CCHS, which can delay diagnosis. In these cases, it is important to consider CCHS as a potential underlying cause and pursue genetic testing to confirm the diagnosis. Lastly, the presenters highlighted the importance of a personalized approach to the management of CCHS and the need for comprehensive genetic testing in both the patient and their family members.

Meta Tag

Category Sleep Disorders

Session ID 1037

Speaker Rakesh Bhattacharjee

Speaker Maria Castro-Codesal

Speaker Refika Ersu

Speaker Iris Perez

Track Sleep Disorders

Keywords

CCHS

genetic disorder

automatic control of breathing

FOX2B gene mutation

positive pressure ventilation

tracheostomy

oxygen saturation monitoring

CO2 levels monitoring

obstructive sleep apnea

genetic testing