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Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome).
Orphanet J Rare Dis. 2017 01 23; 12(1):18.OJ

Abstract

BACKGROUND

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.

RESULTS

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.

CONCLUSIONS

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.

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Authors+Show Affiliations

Attali V
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.
Straus C
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.
Pottier M
Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France.
Buzare MA
Service des Pathologies du Sommeil, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France.
Morélot-Panzini C
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.
Arnulf I
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.
Similowski T
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.

MeSH

AdultCase-Control StudiesFemaleHumansHypoventilationMaleRespiration, ArtificialSleepSleep Apnea, CentralYoung Adult

Pub Type(s)

Clinical Trial
Journal Article

Language

eng

PubMed ID

28115003

Citation

Attali, Valérie, et al. "Normal Sleep On Mechanical Ventilation in Adult Patients With Congenital Central Alveolar Hypoventilation (Ondine's Curse Syndrome)." Orphanet Journal of Rare Diseases, vol. 12, no. 1, 2017, p. 18.
Attali V, Straus C, Pottier M, et al. Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome). Orphanet J Rare Dis. 2017;12(1):18.
Attali, V., Straus, C., Pottier, M., Buzare, M. A., Morélot-Panzini, C., Arnulf, I., & Similowski, T. (2017). Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome). Orphanet Journal of Rare Diseases, 12(1), 18. https://doi.org/10.1186/s13023-017-0569-5
Attali V, et al. Normal Sleep On Mechanical Ventilation in Adult Patients With Congenital Central Alveolar Hypoventilation (Ondine's Curse Syndrome). Orphanet J Rare Dis. 2017 01 23;12(1):18. PubMed PMID: 28115003.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome). AU - Attali,Valérie, AU - Straus,Christian, AU - Pottier,Michel, AU - Buzare,Marie-Annick, AU - Morélot-Panzini,Capucine, AU - Arnulf,Isabelle, AU - Similowski,Thomas, Y1 - 2017/01/23/ PY - 2016/09/02/received PY - 2017/01/11/accepted PY - 2017/1/25/entrez PY - 2017/1/25/pubmed PY - 2017/12/2/medline KW - Congenital central hypoventilation syndrome KW - Local sleep KW - Mechanical ventilation KW - Ondine’s curse syndrome KW - Polysomnography KW - Sleep structure KW - Slow wave sleep SP - 18 EP - 18 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 12 IS - 1 N2 - BACKGROUND: 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. RESULTS: 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. CONCLUSIONS: 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/28115003/Normal_sleep_on_mechanical_ventilation_in_adult_patients_with_congenital_central_alveolar_hypoventilation__Ondine's_curse_syndrome__ DB - PRIME DP - Unbound Medicine ER -