ArticleOrphanet journal of rare diseases2018
Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- In Individuals with Osteogenesis Imperfecta, Cephalometric Findings Suggest that Bisphosphonate Therapy May Improve Craniofacial Growth.Calcified tissue international · 2026Article
- Pilot study to investigate sleep and breathing related complications in children and young people with osteogenesis imperfecta.BMC musculoskeletal disorders · 2025Observational
- The impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study.Orphanet journal of rare diseases · 2024Article
- Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.Calcified tissue international · 2024Review
- Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study.Calcified tissue international · 2024Article
- The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.Orphanet journal of rare diseases · 2024Article
- The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.Orphanet journal of rare diseases · 2023Article
- Eat, breathe, sleep with Osteogenesis Imperfecta.Orphanet journal of rare diseases · 2021Article
- Positive airway pressure therapy for obstructive sleep apnea in patients with Osteogenesis imperfecta: a prospective pilot study.BMC musculoskeletal disorders · 2021Observational
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 77 years, 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.
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