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 organization: | Clinicum Department of Oral and Maxillofacial Diseases University of Helsinki Department of Medicine Keuhkosairauksien yksikkö Department of Ophthalmology and Otorhinolaryngology Children's Hospital Korva-, nenä- ja kurkkutautien klinikka Janna C Waltimo-Siren / Principal Investigator Lastentautien yksikkö HUS Children and Adolescents HUS Head and Neck Center HUS Heart and Lung Center |
Date: | 2018-12-29 |
Language: | eng |
Number of pages: | 8 |
Belongs to series: | Orphanet journal of rare diseases |
ISSN: | 1750-1172 |
DOI: | https://doi.org/10.1186/s13023-018-0971-7 |
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 |
Peer reviewed: | Yes |
Rights: | cc_by |
Usage restriction: | openAccess |
Self-archived version: | publishedVersion |
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