title: ROHHAD syndrome and evolution of sleep disordered breathing.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Hospital For Sick Children, Toronto, Ontario, Canada.
authors.forename: Diana
authors.initials: D
authors.lastname: Reppucci
authors.affiliation: Hospital For Sick Children, Toronto, Ontario, Canada.|University of Toronto, Ontario, Canada.
authors.forename: Jill
authors.initials: J
authors.lastname: Hamilton
authors.affiliation: Hospital For Sick Children, Toronto, Ontario, Canada.|University of Toronto, Ontario, Canada.
authors.forename: E Ann
authors.initials: EA
authors.lastname: Yeh
authors.affiliation: Children's Hospital of Eastern Ontario and University of Ottawa, Ontario, Canada.
authors.forename: Sherri
authors.initials: S
authors.lastname: Katz
authors.affiliation: Hospital For Sick Children, Toronto, Ontario, Canada.|University of Toronto, Ontario, Canada.
authors.forename: Suhail
authors.initials: S
authors.lastname: Al-Saleh
authors.affiliation: Hospital For Sick Children, Toronto, Ontario, Canada. indra.narang@sickkids.ca.|University of Toronto, Ontario, Canada. indra.narang@sickkids.ca.|Division of Respiratory Medicine, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada. indra.narang@sickkids.ca.
authors.forename: Indra
authors.initials: I
authors.lastname: Narang
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000503:physiopathology; D007040:Hypoventilation / Q000503:physiopathology; D008297:Male; D010845:Obesity Hypoventilation Syndrome / Q000503:physiopathology; D012189:Retrospective Studies; D012891:Sleep Apnea Syndromes / Q000503:physiopathology*
keywords: Nocturnal hypoventilation; Polysomnogram; ROHHAD syndrome; Sleep disordered breathing