title: Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.
abstract: BACKGROUND
  Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these patients during adulthood remains unknown.
  
  
  METHODS
  We applied the medical outcome study short form-36 (SF-36) to 12 CCHS patients aged 15-33 (9 women) at the time of their passage from pediatric to adult care. Scores for the SF-36 dimensions were compared to the age- and gender-matched French reference population after transformation into standardized Z-scores. The SF-36 physical component summary score (PCS) and mental component summary score (MCS) were compared to American reference values.
  
  
  RESULTS
  Median Z-scores were significantly different from zero for PF (physical functioning, p = 0.020) and GH (general health perception, p = 0.0342) and for PCS (p = 0.020). The other physical dimensions (RP, role limitation due to physical function; BP, bodily pain) and the mental dimensions (VT, vitality; SF, social functioning; RE, role limitation due to emotional function; MH, mental health) and MCS were not altered.
  
  
  CONCLUSIONS
  We conclude that, despite the physical constraints imposed by CCHS and its anxiogenic nature, this disease is associated with an impairment of health-related quality of life in young adults that remains moderate. Whatever the underlying explanations, these results convey hope to parents with a child diagnosed with CCHS and for patients themselves.
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service de Pneumologie et Réanimation Médicale, F-75013, Paris, France. verkaeren_emilienne@yahoo.fr.
authors.forename: Emilienne
authors.initials: E
authors.lastname: Verkaeren
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service des Pathologies du Sommeil, F-75013, Paris, France. agnes.brion@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. agnes.brion@psl.aphp.fr.
authors.forename: Agnès
authors.initials: A
authors.lastname: Brion
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service de Pneumologie et Réanimation Médicale, F-75013, Paris, France. amelie.hurbault@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. amelie.hurbault@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. amelie.hurbault@psl.aphp.fr.
authors.forename: Amélie
authors.initials: A
authors.lastname: Hurbault
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service de Pneumologie et Réanimation Médicale, F-75013, Paris, France. cecile.chenivesse@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. cecile.chenivesse@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. cecile.chenivesse@psl.aphp.fr.
authors.forename: Cécile
authors.initials: C
authors.lastname: Chenivesse
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service de Pneumologie et Réanimation Médicale, F-75013, Paris, France. capucine.morelot@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. capucine.morelot@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. capucine.morelot@psl.aphp.fr.
authors.forename: Capucine
authors.initials: C
authors.lastname: Morelot-Panzini
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service de Pneumologie et Réanimation Médicale, F-75013, Paris, France. jesus.gonzalez@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. jesus.gonzalez@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. jesus.gonzalez@psl.aphp.fr.
authors.forename: Jésus
authors.initials: J
authors.lastname: Gonzalez-Bermejo
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service des Pathologies du Sommeil, F-75013, Paris, France. valerie.attali@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. valerie.attali@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. valerie.attali@psl.aphp.fr.
authors.forename: Valérie
authors.initials: V
authors.lastname: Attali
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service de Pneumologie et Réanimation Médicale, F-75013, Paris, France. thomas.similowski@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. thomas.similowski@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. thomas.similowski@psl.aphp.fr.
authors.forename: Thomas
authors.initials: T
authors.lastname: Similowski
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche "Adultes" du Centre de Référence du Syndrome d'Ondine, F-75013, Paris, France. christian.straus@psl.aphp.fr.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France. christian.straus@psl.aphp.fr.|AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département "R3S", Service d'Explorations Fonctionnelles de la Respiration, de l'Exercice et de la Dyspnée, F-75013, Paris, France. christian.straus@psl.aphp.fr.
authors.forename: Christian
authors.initials: C
authors.lastname: Straus
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D005260:Female; D006304:Health Status; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D008297:Male; D009154:Mutation / Q000235:genetics*; D011788:Quality of Life / Q000523:psychology; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D011795:Surveys and Questionnaires; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors