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Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study

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Abstract

Summary

We describe the physical function in adults with osteogenesis imperfecta (OI) and explored clinical and non-clinical factors related to its impairment. Our data showed that physical dysfunction is a common feature of adults with OI, varying by OI severity, and mediated by the presence and quality of pain and fatigue symptoms.

Introduction

There is a paucity of data describing physical function in adults with osteogenesis imperfecta (OI). We investigated the effects of OI and its severity on physical function and explored the relationship between physical function and number of fractures and symptomatology.

Methods

Adults with OI of different types were recruited from the RUDY study, an ongoing UK-based prospective cohort study. Participants completed demographic and clinical questions and questionnaires. These assessed physical function (SF-36), mobility (EQ-5D-5L and NEADL), fatigue (FACIT-F), and pain (SF-MQ-2). Scores were compared using parametric or non-parametric statistical analyses, whereas correlations between outcomes were examined using univariate and multivariate regression analysis.

Results

Seventy-eight adults with OI aged 43.5 ± 14.5 years were enrolled (type I, 32; type III, 11; type IV, 10; unknown type, 26). Physical function (PCS, SF-36) was significantly lower in all participants than normative values (p < 0.001) and in type III than type I (p = 0.008). Mobility was significantly different across the types (EQ-5D-EL, p = 0.007; NEADL, p < 0.001), with type III having more severe problems, followed by types IV, unknown, and I. Physical function was associated with OI type (r = 0.26; p = 0.021), presence and quality of pain (r = − 0.57; p < 0.0001), and fatigue (r = − 0.51; p < 0.0001). Multivariate analysis revealed that physical function correlated independently with age, OI type, fatigue, and non-neuropathic pain.

Conclusions

Individuals with OI display a marked deterioration in physical function during adulthood. This impairment varies in severity according to the OI phenotype and is associated with the presence of non-neuropathic pain and fatigue.

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Authors and Affiliations

  1. Research Centre for Musculoskeletal Science & Sports Medicine, Department of Life Sciences, Manchester Metropolitan University, John Dalton Building, Chester Street, Manchester, M1 5GD, UK

    G. Orlando, N. D. Reeves & A. Ireland

  2. Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK

    R. Pinedo-Villanueva & M. K. Javaid

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  1. G. Orlando
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  2. R. Pinedo-Villanueva
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  3. N. D. Reeves
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  4. M. K. Javaid
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  5. A. Ireland
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Corresponding author

Correspondence to G. Orlando.

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Conflicts of interest

G.O. was funded by a research grant from the Brittle Bone Society, R.P.V. receives consulting fees from Mereo Biopharma, all outside of the scope of this project. M.K.J. is a component of advisory board fee of Mereo Biopharma.

Ethical approval and consent to participate

This study was approved by the South Central Research Ethics committee UK after review (LREC 14/SC/0126) and participants gave informed consent.

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Orlando, G., Pinedo-Villanueva, R., Reeves, N.D. et al. Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study. Osteoporos Int 32, 157–164 (2021). https://doi.org/10.1007/s00198-020-05537-3

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  • DOI: https://doi.org/10.1007/s00198-020-05537-3

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