|
|||||
|
|
Sleep‐disordered breathing in children with pycnodysostosis |
|
| Authors: | Sonia Khirani Alessandro Amaddeo Geneviève Baujat Caroline Michot Vincent Couloigner Graziella Pinto Eric Arnaud Arnaud Picard Valérie Cormier‐Daire Brigitte Fauroux |
| Affiliation: | 1. Pediatric Noninvasive Ventilation and Sleep Unit, AP‐HP, H?pital Necker‐Enfants malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France;2. ASV Santé, Gennevilliers, France;3. EA 7330 VIFASOM (Vigilance Fatigue Sommeil et Santé Publique), Paris Descartes University, Paris, France;4. AP‐HP, H?pital Necker‐Enfants malades, Genetics Department, National Reference Centre for Skeletal Dysplasia, INSERM UMR 1163, University Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Paris, France;5. Pediatric Head and Neck Surgery and Otorhinolaryngology Department, AP‐HP, H?pital Necker‐Enfants malades, Pediatric Head and Neck Surgery and Otorhinolaryngology, Paris, France;6. Pediatric Endocrinology Department, AP‐HP, H?pital Necker‐Enfants malades, Pediatric Endocrinology, Paris, France;7. Pediatric Neurosurgery Department, AP‐HP, H?pital Necker‐Enfants malades, Pediatric Neurosurgery, Centre de référence des malformations craniofaciales—CRMR CRANIOST, Paris, France;8. Clinique Marcel Sembat, Ramsay Générale de Santé, Boulogne Billancourt, France;9. Pediatric Maxillofacial and Plastic Surgery Department, AP‐HP, H?pital Necker‐Enfants malades, Pediatric Maxillofacial and Plastic Surgery, Paris, France;10. https://orcid.org/0000-0001-6092-2662;11. Brigitte Fauroux, Pediatric Noninvasive Ventilation and Sleep Unit, AP‐HP, H?pital Necker, 149 rue de Sèvres, Paris, 75015, France. |
| Abstract: | 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. |
| Keywords: | continuous positive airway pressure ENT surgery pycnodysostosis sleep‐disordered breathing upper airway |