Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study

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http://hdl.handle.net/10138/292421

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Arponen , H , Bachour , A , Bäck , L , Valta , H , Mäkitie , A , Waltimo-Siren , J & Mäkitie , O 2018 , ' Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study ' , Orphanet journal of rare diseases , vol. 13 , 231 . https://doi.org/10.1186/s13023-018-0971-7

Title: Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study
Author: Arponen, Heidi; Bachour, Adel; Bäck, Leif; Valta, Helena; Mäkitie, Antti; Waltimo-Siren, Janna; Mäkitie, Outi
Contributor: University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Children's Hospital
University of Helsinki, Department of Ophthalmology and Otorhinolaryngology
University of Helsinki, Department of Oral and Maxillofacial Diseases
University of Helsinki, Lastentautien yksikkö
Date: 2018-12-29
Language: eng
Number of pages: 8
Belongs to series: Orphanet journal of rare diseases
ISSN: 1750-1172
URI: http://hdl.handle.net/10138/292421
Abstract: BackgroundPatients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, and recent data from questionnaire studies suggest that these may include increased risk for sleep apnea, a finding that lacks clinical evidence from cohort studies. In this cross-sectional study, 25 adults with OI underwent clinical otorhinolaryngology examination as well as overnight polysomnography to address the question. The participants were aged between 19 and 77years, and ten of them had mild clinical OI phenotype, seven had a moderately severe phenotype, and eight had a severe phenotype.ResultsWe found obstructive sleep apnea (apnea hypopnea index 5/h) in as many as 52% of the OI patients in the cohort. Unexpectedly, however, no correlation was present between sleep apnea and daytime sleepiness, experienced bodily pain, severity of OI, Mallampati score, or neck circumference.ConclusionsSeeing that the usual predictors showed no association with occurrence of sleep apnea, we conclude that obstructive sleep apnea may easily be left as an undetected disorder in individuals with OI. Recurrent nocturnal hypoxia due to episodes of apneas can even affect bone metabolism, thereby further aggravating bone fragility in patients with OI.
Subject: Osteogenesis imperfecta
Sleep apnea
Osteoporosis
Fatigue
Hypoxia
AMERICAN ACADEMY
DISEASE
BONE
1184 Genetics, developmental biology, physiology
3111 Biomedicine
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