Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Adenoidectomy
Adolescent
Adult
Child
Child, Preschool
Continuous Positive Airway Pressure
/ methods
Dysostoses
/ congenital
Female
Humans
Infant
Intellectual Disability
/ diagnostic imaging
Male
Osteochondrodysplasias
/ congenital
Polysomnography
Ribs
/ abnormalities
Sleep Apnea Syndromes
/ diagnostic imaging
Sleep Apnea, Obstructive
/ diagnostic imaging
Spine
/ abnormalities
Tonsillectomy
Treatment Outcome
Young Adult
alveolar hypoventilation
obstructive sleep apnea
polygraphy
skeletal dysplasia
sleep
sleep-disordered breathing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
12
02
2021
received:
11
12
2020
accepted:
03
04
2021
pubmed:
29
4
2021
medline:
4
1
2022
entrez:
28
4
2021
Statut:
ppublish
Résumé
Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia.
Identifiants
pubmed: 33908178
doi: 10.1002/ajmg.a.62236
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2108-2118Informations de copyright
© 2021 Wiley Periodicals LLC.
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