Sleep‐Disordered Breathing, Respiratory Patterns during Wakefulness and Functional Capacity in Pediatric Patients with Rapid‐Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) Syndrome

Objective To characterize the clinical presentation of sleep-disordered breathing and respiratory patterns at rest and during a 6-minute walk test (6MWT) in children with rapid-onset obesity, hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) syndrome. Methods Retrospective study of children with ROHHAD who had a diagnostic baseline polysomnography, daytime cardiorespiratory monitoring at rest and a 6MWT. Polysomnography data were also compared with BMI-, age- and sex-matched controls. Results Of the 8 children with ROHHAD, all 8 (100%) had obstructive sleep apnea (OSA) and 2/8 (25%) had nocturnal hypoventilation on their baseline polysomnography. Comparing the ROHHAD group to the control group, there were no significant differences in the median [IQR] obstructive apnea-hypopnea index (OAHI) (11.1 [4.3-58.4] vs 14.4 [10.3-23.3] events/hour, respectively; p=0.78). However, children with ROHHAD showed a significantly higher desaturation index compared to the control group (37.9 [13.7-59.8] vs 14.7 [4.3-27.6] events/hour; p=0.05). While awake at rest, some children with ROHHAD experienced significant desaturations associated with central pauses. During the 6MWT, no significant desaturations were observed, but two children showed moderate functional limitation. Conclusions Among children with ROHHAD, respiratory instability may be demonstrated by a significant number and severity of oxygen desaturations during sleep in the presence of OSA, with or without nocturnal hypoventilation, and oxygen desaturations with central pauses at rest during wakefulness. Interestingly, during daily activities that require submaximal effort, children may not experience oxygen desaturations. Early recognition of respiratory abnormalities and targeted therapeutic interventions are important to limit associated morbidity and mortality in ROHHAD. This article is protected by copyright. All rights reserved.