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Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study
G Orlando1, R Pinedo-Villanueva2, N D Reeves3
1Research Centre for Musculoskeletal Science & Sports Medicine, Department of Life Sciences, Manchester Metropolitan University, John Dalton Building, Chester Street, Manchester, M1 5GD, UK. G.Orlando@mmu.ac.uk.
Summary
Adults with osteogenesis imperfecta (OI) experience significant physical dysfunction, influenced by OI severity, pain, and fatigue. These factors independently impact physical function in adults with OI.
Area of Science:
- Orthopedics
- Rheumatology
- Genetics
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones.
- Limited data exists on physical function in adults with OI.
- Understanding OI's impact on adult physical function is crucial for targeted interventions.
Purpose of the Study:
- To assess physical function in adults with OI.
- To investigate the influence of OI type and severity on physical function.
- To explore the relationship between physical function and factors like pain and fatigue.
Main Methods:
- Recruited adults with OI from the UK-based RUDY study.
- Administered questionnaires for physical function (SF-36), mobility (EQ-5D-5L, NEADL), fatigue (FACIT-F), and pain (SF-MQ-2).
- Utilized statistical analyses, including regression, to examine correlations.
Main Results:
- Seventy-eight adults with OI enrolled; physical function was significantly lower than normative values.
- Type III OI showed worse physical function and mobility compared to type I.
- Physical function correlated with OI type, pain (non-neuropathic), and fatigue.
Conclusions:
- Adults with OI exhibit substantial physical function decline.
- Physical function impairment is linked to OI severity, pain, and fatigue.
- Non-neuropathic pain and fatigue are independent predictors of reduced physical function in adults with OI.
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