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. 2016 Jul 30;11(1):106.
doi: 10.1186/s13023-016-0484-1.

ROHHAD syndrome and evolution of sleep disordered breathing

Affiliations

ROHHAD syndrome and evolution of sleep disordered breathing

Diana Reppucci et al. Orphanet J Rare Dis. .

Abstract

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHAD, the evolution of sleep disordered breathing (SDB) is not well studied. The aim of the study was to assess early manifestations of SDB and their evolution in ROHHAD syndrome.

Methods: Retrospective study of children with ROHHAD at two Canadian centers. All children with suspected ROHHAD at presentation underwent polysomnography (PSG) to screen for nocturnal hypoventilation. PSG findings at baseline and follow-up were collected. Interventions and diagnostic test results were recorded.

Results: Six children were included. The median age of rapid onset obesity and nocturnal hypoventilation (NH) was 3.5 and 7.2 years respectively. On initial screening for ROHHAD 4/6 (66.7 %) children had obstructive sleep apnea (OSA), 1/6 (16.7 %) had NH and 1/6 (16.7 %) had both OSA and NH. Follow up PSGs were performed in 5/6 children as one child died following a cardiorespiratory arrest. All children at follow up had NH and required non-invasive positive pressure ventilation. Additionally, 3/6 (50 %) children demonstrated irregular breathing patterns during wakefulness.

Conclusions: Children with ROHHAD may initially present with OSA and only develop NH later as well as dysregulation of breathing during wakefulness. The recognition of the spectrum of respiratory abnormalities at presentation and over time may be important in raising the index of suspicion of ROHHAD. Early recognition and targeted therapeutic interventions may limit morbidity and mortality associated with ROHHAD.

Keywords: Nocturnal hypoventilation; Polysomnogram; ROHHAD syndrome; Sleep disordered breathing.

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Figures

Fig. 1
Fig. 1
Sequence of Sleep Disordered Breathing Phenotype in each patient. Abbreviations: OSA Obstructive Sleep Apnea, NH Nocturnal Hypoventilation, † Patient died. Age of presentation for SDB is shown on the x-axis for each patient
Fig. 2
Fig. 2
Cardiorespiratory monitoring during wakefulness (patient #3). Ten year old male with abnormal control of breathing during wakefulness. The test was performed while the child was sitting and watching tv. This was a 90 s recording during wakefulness which shows several central pauses (black arrow) with associated mild to moderate oxygen desaturations (red arrow). The desaturations were transient with recovery to baseline
Fig. 3
Fig. 3
Oxygen saturations and heart rate during wakefulness (patient #3). Ten year old male with mild to severe oxygen desaturations and heart rate variability while awake. Desaturations to lowest SaO2 of 60 % and bradycardia of 40 beats per minute were recorded. These events were transient and returned to baseline without any need of intervention

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