High Prevalence of Obstructive Sleep Apnea in Children With Suspected ROHHAD Syndrome

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Researchers sought to explore the clinical presentations of sleep-disordered breathing in patients with suspected ROHHAD.

Among children with suspected rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) syndrome, there is a high prevalence of obstructive sleep apnea (OSA) requiring ventilator support, according to study results presented at World Sleep 2019, held September 20 to 25, in Vancouver, Canada.

Early diagnosis of ROHHAD is challenging, as there is no defined etiology and the clinical presentation is variable. Limited data are available regarding sleep-disordered breathing in children with this syndrome, and the goal of this study was to explore the clinical presentations of sleep-disordered breathing in patients with suspected ROHHAD.

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The retrospective study included 9 participants aged 4-13 years (mean age 7.8±3, 44% male) with suspected ROHHAD syndrome and available polysomnography at baseline.

All 9 children were obese (mean body mass index 35.7±6.3 kg/m2) and were diagnosed with OSA at initial presentation (mean obstructive apnea-hypopnea index 27.9±28.0/h, mean CO2 during sleep was 43.6 mm Hg), including 4 children (44%) with mild, 1 (11%) with moderate and 4 (44%) with severe OSA. Comorbid central sleep apnea was evident in 2 (22%) subjects, and comorbid nocturnal hypoventilation was documented in 3 (33%) of the patients.

Polysomnography data after a median follow-up of 2.3 years indicated that all 9 subjects still had OSA, 1 (11%) had comorbid central sleep apnea and 7 (78%) had comorbid nocturnal hypoventilation.

As for complication secondary to ROHHAD, one child passed away from the disease, 4 patients required bi-level positive airway pressure and 4 patients were maintained on continuous positive airway pressure.

“Further research is needed to understand long-term ventilatory needs in children with suspected ROHHAD syndrome,” concluded the researchers.


Benzon D, Voutsas G, Hamilton J, Yeh A, Narang I. Evaluation of sleep disordered breathing in pediatric patients with suspected ROHHAD syndrome. Abstract presented at World Sleep 2019; September 20-25, 2019; Vancouver, Canada.