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Sleep‐disordered breathing in children with pycnodysostosis
Author(s) -
Khirani Sonia,
Amaddeo Alessandro,
Baujat Geneviève,
Michot Caroline,
Couloigner Vincent,
Pinto Graziella,
Arnaud Eric,
Picard Arnaud,
CormierDaire Valérie,
Fauroux Brigitte
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61393
Subject(s) - medicine , continuous positive airway pressure , obstructive sleep apnea , airway obstruction , hypoventilation , airway , pediatrics , positive airway pressure , sleep apnea , breathing , sleep study , apnea , polysomnography , anesthesia , respiratory system
Upper airway obstruction is a common feature in pycnodysostosis and may cause obstructive sleep apnea (OSA). The aim of our study was to analyze sleep‐disordered breathing and respiratory management in children with pycnodysostosis. A retrospective review of the clinical charts and sleep studies of 10 consecutive children (three girls and seven boys) with pycnodysostosis seen over a time period of 10 years was performed. Six patients had severe OSA and/or nocturnal hypoventilation and were started on continuous positive airway pressure (CPAP) as a first treatment at a median age of 3.4 ± 2.6 years, because of the lack of indication of any surgical treatment. Three patients could be weaned after several years from CPAP after spontaneous improvement (two patients) or multiple upper airway surgeries (one patient). Three patients had upper airway surgery prior to their first sleep study with two patients still needing CPAP during their follow‐up. Only one patient never developed OSA. Patients with pycnodysostosis are at a high risk of severe OSA, underlying the importance of a systematic screening for sleep‐disordered breathing. Multidisciplinary care is mandatory because of the multilevel airway obstruction. CPAP is very effective and well accepted for treating OSA.