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Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities

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Abstract

Summary

Respiratory insufficiency is the leading cause death in people with osteogenesis imperfecta (OI). Adults with OI reported that respiratory symptoms negatively impacted psychosocial wellbeing and limited daily physical activities, irrespective of OI type, age, stature, or scoliosis. The impact of respiratory status on quality of life in this population warrants further investigation.

Purpose

Respiratory insufficiency is the leading cause of mortality in osteogenesis imperfecta (OI), a heterogeneous group of heritable connective tissue disorders characterized by fractures, bone fragility, and scoliosis. There is little research on how respiratory health influences daily life in this population. This study explores the relationship between respiratory function and quality of life in adults with OI.

Methods

One hundred fifty-seven adults with OI completed the St. George’s Respiratory Questionnaire (SGRQ) and provided demographic and health information through REDCap. SGRQ scores were compared to reference scores for the general population, and comparisons were made between OI type, presence of scoliosis, stature, and other factors such as age or comorbidities.

Results

Average age was 45.87 years (range 19–81). Respondents scored worse on average (32 ± 23) than the normative data (6 ± 1). Those with type I OI scored better than those with type IV (p = 0.002) or type III (p = 0.024). Total scores correlated with age, activity level, assistive device use, and presence of pulmonary or cardiac comorbidities but did not correlate with stature or degree of scoliosis.

Conclusion

Respiratory symptoms negatively impact both psychosocial wellbeing in the OI population and limit daily physical activity. These limitations occur irrespective of their OI type, age, stature, or scoliosis and reflect the dramatic impact of respiratory status on quality of life for people with OI. Future studies should examine the etiology of respiratory insufficiency in this population so guidelines for management can be established.

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Acknowledgments

The researchers would like to thank the Osteogenesis Imperfecta Foundation (OIF), Brittle Bone Disorder Consortium, and Osteogenesis Imperfecta Federation Europe (OIFE) for circulating recruitment materials for this study. The researchers would also like to thank Kathryn O. and Alan C. Greenberg for their ongoing support of the Center for Skeletal Dysplasias at Hospital for Special Surgery. Finally, we would like to acknowledge members of the OI community who participated in this study.

Availability of data and material

Due to the nature of this research study, investigators did not obtain permission from study participants for their data to be shared publicly. Therefore, no supporting data is available.

Funding

Financial support for dissemination of research reported in this publication was received from the Osteogenesis Imperfecta Foundation Jamie Kendall Fund for Adult OI Health. Research reported in this publication was supported by the National Center For Advancing Translational Science of the National Institute of Health Under Award Number UL1TR002384. This study was also supported by the Osteogenesis Imperfecta Foundation. This study utilized the Brittle Bone Disorders Consortium Contact Registry, hosted by the Rare Diseases Clinical Research Network. The Brittle Bone Disease Consortium (1U54AR068069-0) is a part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN) and is funded through a collaboration between the Office of Rare Diseases Research (ORDR), NCATS, the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Dental and Craniofacial Research (NIDCR), and the Eunice Kennedy Shriver National Institutes of Child Health and Development (NICHD). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Authors and Affiliations

  1. Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, USA

    Elizabeth A. Yonko, Jillian S. Emanuel, Erin M. Carter & Cathleen L. Raggio

  2. Division of Pulmonary, Critical Care, and Sleep Medicine, National Jewish Health, 1400 Jackson Street, Denver, CO, 80206, USA

    Robert A. Sandhaus

Authors
  1. Elizabeth A. Yonko
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  2. Jillian S. Emanuel
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  3. Erin M. Carter
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  4. Robert A. Sandhaus
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  5. Cathleen L. Raggio
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Contributions

All authors provide substantial contributions to research design, or the acquisition, analysis, or interpretation of data. All authors drafted the paper or revise it critically. All authors approved the submitted and final versions. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Corresponding author

Correspondence to Robert A. Sandhaus.

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Conflicts of interest

Cathleen L. Raggio received support from the Osteogenesis Imperfecta Foundation to cover dissemination fees associated with this research. Elizabeth A. Yonko, Jillian S. Emanuel, Erin M. Carter, and Robert A. Sandhaus declare that they have no conflict of interest.

Ethics approval

All work was performed at Hospital for Special Surgery, NY, NY and National Jewish Health in Denver, CO. This study was performed in accordance with the ethical standards in the 1964 Declaration of Helsinki and regulations of HIPAA. Details that might disclose the identity of the subjects under study were omitted. IRB approval was obtained at Hospital for Special Surgery.

Consent to participate

The requirement for consent to participate was waived by Hospital for Special Surgery’s Institutional Review Board because the research involved no more than minimal risk to subjects, did not adversely affect rights and welfare of subjects, and could not practicably be carried out without the waiver.

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Consent for publication was not obtained for the same reasons as listed above. The publication does not contain any identifying information.

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Yonko, E.A., Emanuel, J.S., Carter, E.M. et al. Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities. Arch Osteoporos 15, 153 (2020). https://doi.org/10.1007/s11657-020-00818-0

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