LAUSR

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease affecting control of breathing necessitating lifelong assisted ventilation (AV) via noninvasive positive pressure ventilation (NPPV), diaphragm pacing (DP), or positive pressure ventilation via tracheostomy (PPV-T). Owing to abnormal ventilatory responses, patients require monitoring during sleep by a caregiver. The aims of this study were to assess sleep patterns in the patient-parent dyads using actigraphy and sleep diary. Patients with CCHS and their parents completed the Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD), Epworth Sleepiness Scale (ESS), sleep diaries, and used wrist actigraphy for 7 days. The analyzed data included AV modality, ESS, ESS-CHAD scores, and actigraphy outcomes— sleep latency (SL), sleep efficiency (SE), total sleep time (TST), wake after sleep onset (WASO), and wake frequency. The median (IQR) ages of the 11 patient-parent dyads who completed the study were 11(8-13.5) and 41(39-47.5) years, respectively. AV modalities were NPPV (n=3), DP (n=2), and PPV-T (n=6). The median (IQR) ESS-CHAD and ESS scores for the patient and parents were 8(2-9) and 6(3.5-7), respectively indicating higher normal daytime sleepiness. In patients with CCHS, actigraphy showed median (IQR) SL of 14.6(10.1-19.6) minutes, decreased SE of 78.5% (72.5%-84%), decreased TST of 7.2(6.6-8.1) hours, elevated WASO of 1.7(1.1-2.3) hours, and frequent awakenings of 22.2(18.4-23.6) per night. In the parents, actigraphy showed median (IQR) SL of 7(3.6-10.9) minutes, normal SE of 81.6% (80%-86%), decreased TST of 6.7(6-6.8) hours, elevated WASO 1.1(1-1.3) hours, and frequent awakenings of 19.3(15.4-22.4) per night. Two separate patients and parents slept < 6 hours per day. Among 2 patients with nighttime home nursing, the parents had SE >85%, TST ≥7.3 hours, and reported better sleep quality. Patients with CCHS and their parents are at risk for sleep disturbances. Specifically, patients with CCHS had decreased median TST and SE, and parents had decreased median TST. Both patients and parents had frequent night wakings indicating sleep disruptions. Nighttime home nursing may improve parental sleep. Apart from vigilant management of AV in patients with CCHS, clinicians should also evaluate sleep quality in patients with CCHS and their parents.