Annual Respiratory Evaluations in Congenital Central Hypoventilation Syndrome and Changes in Ventilatory Management

Background: Annual in-hospital respiratory evaluations (AREs) during wakefulness and sleep are recommended to assess ventilatory requirements in patients with congenital central hypoventilation syndrome (CCHS) aged ≥2-3 years based on expert consensus. This study aimed to determine if AREs in patients with CCHS led to changes in ventilatory management. Methods: Retrospective review of patients with CCHS who underwent AREs with or without polysomnography between 2017 and 2019 was conducted. Clinical symptoms, results of AREs, and subsequent changes in ventilatory management were analyzed. Results: We identified 10 patients with CCHS aged 4-20 years. All patients required assisted ventilation (AV) only during sleep delivered by positive pressure ventilation via tracheostomy (n = 7) or diaphragm pacing (n = 3). In total, 7 (70%) patients had abnormal oxygenation and/or ventilation requiring changes in ventilator settings or duration of AV. Six patients required an increase in settings and/or duration of AV, and only 1 patient required a decrease in ventilator settings. Two patients had awake hypercapnia during a routine outpatient visit that improved following increase in ventilator settings and a period of continuous AV. One patient who was previously ventilator-dependent only during sleep was identified to require 16 h per day of AV. All patients (n = 3) who reported symptoms such as headache or oxygen desaturations during sleep required an increase in ventilator settings. Conclusion: We report a high prevalence of changes in AV management following an ARE. Our results demonstrate the importance of regular AREs in patients with CCHS to assess their ventilatory requirements and optimize AV.