title: Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome).
abstract: The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX2B gene. Fourteen patients aged 23 (19.0; 24.8) years old (median [1rst-3rd quartiles]) with CCHS underwent a sleep interview and night-time attended polysomnography with their ventilatory support. Their sleep variables were compared to those collected in 15 healthy control subjects matched for age, sex and body mass index.
  
  
  
  The latency to N3 sleep was shorter in patients (26.3 min [24.0; 30.1]) than in controls (49.5 min [34.3; 66.9]; P = 0.005), and sleep onset latency tended to be shorter in patients (14.0 min [7.0; 20.5]) than in controls (33.0 min [18.0; 49.0]; P = 0.052). Total sleep time, sleep stage percentages, sleep fragmentation as well as respiratory and movement index were within normal ranges and not different between groups.
  
  
  
  Normal sleep in adult patients with CCHS and adequate ventilator support indicates that the PHOX2 gene mutations do not affect brain sleep networks. Consequently, any complaint of disrupted sleep should prompt clinicians to look for the usual causes of sleep disorders, primarily inadequate mechanical ventilation. Shorter N3 latency may indicate a higher need for slow wave sleep, to compensate for the abnormal respiratory-related cortical activity during awake quiet breathing observed in patients with CCH.
authors.affiliation: Sorbonne Universités, UPMC Université Paris 06, INSERM, UMRS1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France. valerie.attali@aphp.fr.|Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France. valerie.attali@aphp.fr.|Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. valerie.attali@aphp.fr.
authors.forename: Valérie
authors.identifier: 0000-0001-5444-9223
authors.initials: V
authors.lastname: Attali
authors.affiliation: Sorbonne Universités, UPMC Université Paris 06, INSERM, UMRS1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France.|Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France.|Service d'Explorations Fonctionnelles Respiratoires de l'Exercice et de la Dyspnée EFRED, F-75013, Paris, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Straus
authors.affiliation: Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Pottier
authors.affiliation: Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France.
authors.forename: Marie-Annick
authors.initials: MA
authors.lastname: Buzare
authors.affiliation: Sorbonne Universités, UPMC Université Paris 06, INSERM, UMRS1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France.|Unité ambulatoire d'Assistance Respiratoire à Domicile, F-75013, Paris, France.|Service de Pneumologie et Réanimation Médicale, Département R3S, Hopitaux Universitaires Pitié-Salpêtrière Charles Foix, AP-HP, F-75013, Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Morélot-Panzini
authors.affiliation: Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France.|Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France.|Brain Research Institute-UPMC Paris 6 Univ Inserm U 1127, CNRS UMR 7225, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Arnulf
authors.affiliation: Sorbonne Universités, UPMC Université Paris 06, INSERM, UMRS1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France.|Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France.|Service de Pneumologie et Réanimation Médicale, Département R3S, Hopitaux Universitaires Pitié-Salpêtrière Charles Foix, AP-HP, F-75013, Paris, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Similowski
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000628:therapy; D008297:Male; D012121:Respiration, Artificial; D012890:Sleep / Q000502:physiology*; D020182:Sleep Apnea, Central / Q000628:therapy*; D055815:Young Adult
keywords: Congenital central hypoventilation syndrome; Local sleep; Mechanical ventilation; Ondine’s curse syndrome; Polysomnography; Sleep structure; Slow wave sleep