ArticleBMC musculoskeletal disorders2022
The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis.
Article in BMC musculoskeletal disorders, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.Radiology case reports · 2026Article
- Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta.JBMR plus · 2026Article
- Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.Orphanet journal of rare diseases · 2026Article
- Use of Analgesics in Osteogenesis Imperfecta in Denmark-A Nationwide Register-based Cohort Study.Calcified tissue international · 2025Article
- Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.Families, systems & health : the journal of collaborative family healthcare · 2025Article
- Article
- 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
- Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.Journal of clinical psychology in medical settings · 2024Article
- Current situation of osteogenesis imperfecta in Spain: results from a Delphi study.Orphanet journal of rare diseases · 2024Article
- A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.American journal of medical genetics. Part A · 2023Article
- Impact of caregiver's eHealth literacy, financial well-being, and mental health on quality of life of pediatric patients with osteogenesis imperfecta.Health and quality of life outcomes · 2023Article
- Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation.medRxiv : the preprint server for health sciences · 2023Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking. Access to therapy services for adults with Osteogenesis Imperfecta is variable. We designed this analysis to better understand the musculoskeletal disorders and consequent therapy needs for adults with Osteogenesis Imperfecta.
methodsThis study was a cross-sectional analysis of outpatients with Osteogenesis Imperfecta. Adults attending a newly established multidisciplinary clinic at a tertiary centre in 2019 were included. A highly specialist physiotherapist worked within the clinic to offer therapy input if required and to refer patients to appropriate therapy as needed. People over the age of 18 were included if they had a diagnosis of Osteogenesis Imperfecta. Data were collected over a five month period using routinely collected clinical information and patient reported outcomes.
resultsOver five months 50 patients attended the clinic. Musculoskeletal pain was a significant feature reported by 84% of patients. Over 50% of patients reported persistent pain for longer than one year duration and the most common site of pain was in the spine (46%). No difference in pain between types of OI and age. Forty five per cent (n = 19) of patients reported moderate to severe problems with mobility on the EQ-5D with over half reporting problems with self-care and ability to carry out usual activities. Over 50% of patients in clinic also reported anxiety (EQ-5D). During the consultation 70% of patients received therapy input which was either advice in clinic or an onward referral to the appropriate service. The referral rate to specialist out-patient rehabilitation services at a tertiary centre was 30%.
conclusionsThis analysis highlights the high prevalence of MSK pain in adults with OI and the effect on physical function and emotional wellbeing. This study demonstrates the diverse needs of the adult Osteogenesis Imperfecta population and the need for suitable multidisciplinary therapy services.
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