Sleep‐disordered breathing, respiratory patterns during wakefulness and functional capacity in pediatric patients with rapid‐onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation syndrome

• DOI: 10.1002/ppul.25199
• Publication Date: 2020-12-03T15:27:04Z
• Authors: Sarah Selvadurai; David Benzon; Giorge Voutsas; Jill Hamilton; Ann Yeh; Barbara Cifra; Indra Narang
• Keywords: Male; 2. Zero hunger; Polysomnography; Walk Test; Hypoventilation; 3. Good health; 03 medical and health sciences; Sleep Apnea Syndromes; 0302 clinical medicine; Autonomic Nervous System Diseases; Humans; Female; Obesity; Wakefulness; Child; Hypothalamic Diseases; Retrospective Studies

AbstractObjectiveTo characterize the clinical presentation of sleep‐disordered breathing and respiratory patterns at rest and during a 6‐min walk test (6MWT) in children with rapid‐onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome.MethodsRetrospective 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 body mass index‐, age‐, and sex‐matched controls.ResultsOf the eight children with ROHHAD, all eight (100%) had obstructive sleep apnea (OSA) and 2/8 (25%) had nocturnal hypoventilation (NH) on their baseline polysomnography. Comparing the ROHHAD group to the control group, there were no significant differences in the median (interquartile range [IQR]) obstructive apnea‐hypopnea index (11.1 [4.3–58.4] vs. 14.4 [10.3–23.3] events/h, respectively; p = .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/h; p = .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.ConclusionsAmong 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 NH, 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.