Obstructive Sleep Apnea in Patients With Congenital Central Hypoventilation Syndrome Ventilated by Diaphragm Pacing Without Tracheostomy

Study Objectives: To determine presence of obstructive sleep apnea (OSA) in patients with congenital central hypoventilation syndrome (CCHS) ventilated by diaphragm pacing (DP) without tracheostomy, and to determine if OSA can be improved by DP setting changes. Methods: We reviewed polysomnography (PSG) results of 15 patients with CCHS from October 2001 to April 2014, age 15.4 +/- 7.8 years, body mass index 22.0 +/- 6.0 kg/m(2), and 60% female. Results: Of the 22 PSG results obtained for the 15 patients with CCHS, 9 were performed with tracheostomy capped, and 13 were performed after patients underwent decannulation. OSA was present on 6 of 9 tests in patients with tracheostomy capped, including 3 patients with immediate, severe OSA necessitating that the studies be completed with tracheostomy uncapped. OSA was present on 2 of 13 tests in patients in whom decannulation had been performed. Hypoventilation was seen on only one test without OSA. On 2 of 5 tests showing OSA, OSA improved by decreasing DP amplitude settings; apnea-hypopnea index decreased from 11.1 +/- 2.5 to 1.8 +/- 2.5 events/h; PETCO2 decreased from 57.5 +/- 3.5 to 38.5 +/- 0.7 torr; SpO(2) increased from 76.5 +/- 0.7% to 93.0 +/- 7.1%. OSA improved in one patient with slight increase in respiratory rate. Settings were manipulated in 4 tests showing OSA; no changes were attempted in the remaining study. One patient was placed on bilevel positive airway pressure with temporary suspension of DP. Age (P < .119), previous adenotonsillectomy (P < .211), and body mass index (P < .112) did not significantly contribute to OSA. Conclusions: OSA occurs in patients with CCHS ventilated by DP. However, decreasing DP amplitude settings can lessen upper airway obstruction without compromising gas exchange.