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Health-related quality of life in children with osteogenesis imperfecta: a large-sample study

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Abstract

Summary

In this large-sample study, we demonstrated that osteogenesis imperfecta (OI) significantly impaired the quality of life (QoL) in children. Moderate/severe OI patients had worse QoL scores than patients with mild OI. Furthermore, the QoL for OI patients was correlated with the presence of pathogenic gene mutations.

Introduction

Osteogenesis imperfecta (OI) is a hereditary disease characterized by multiple fragility fractures and progressive skeletal deformities. No detailed investigations about the quality of life (QoL) have been carried out in a large sample of patients with OI. We evaluated the QoL and its influencing factors in a large and well-characterized OI cohort.

Methods

We used a validated questionnaire of PedsQL 4.0 to evaluate the health-related quality of life (HRQoL) of children and adolescents with OI. We compared HRQoL among patients with OI types I, III, and IV. The relationship between HRQoL and pathogenic mutations in candidate OI genes was investigated. We also evaluated the influencing factors of HRQoL in OI patients.

Results

A total of 138 children with OI and 138 healthy controls were enrolled in this study. The HRQoL scores of OI patients were 64.4 ± 30.0, 71.9 ± 22.2, 75.7 ± 24.8, 63.7 ± 24.5, and 68.9 ± 22.0 in physical, emotional, social, school functioning, and total score, respectively, which were significantly lower than those of healthy children (86.5 ± 12.7, 83.3 ± 16.0, 92.1 ± 11.8, 87.5 ± 11.8, and 87.3 ± 10.7, all p < 0.01). Moderate and severe OI (type III/IV) patients had poorer HRQoL scores than patients with mild OI (type I). Gene mutations inducing qualitative defects in type I collagen led to worse HRQoL scores than those with quantitative defects in type I collagen, except in emotional functioning. The total HRQoL score was positively correlated with family income, lumbar, and femoral bone mineral density (BMD) Z-scores and negatively correlated with disease severity and fracture frequency.

Conclusion

HRQoL was significantly impaired in OI patients, and patients with more severe OI had poorer HRQoL scores. For the first time, we found that children with qualitative defects in type I collagen had poorer HRQoL scores than those with quantitative defects in type I collagen.

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Acknowledgments

We thank the staff in the radiology department for measurement of the bone mineral density and interpretation of X-ray films of bone. We also thank the patients with OI and healthy children for completing the questionnaires.

Funding

This study was supported by National Natural Science Foundation of China (No. 81570802), the National Key Research and Development Program of China (No. 2016YFC0901501), and CAMS Initiative for Innovative Medicine (2016-I2M-3-003).

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Authors and Affiliations

  1. Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No.1, Dongcheng District, Beijing, 100730, China

    Y. Song, D. Zhao, L. Li, F. Lv, O. Wang, Y. Jiang, W. Xia, X. Xing & M. Li

  2. Department of Endocrinology, The Second Hospital of Shandong University, Jinan, 250033, Shandong, China

    Y. Song

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  1. Y. Song
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  9. M. Li
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Correspondence to M. Li.

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The study was approved by the scientific ethics committee of Peking Union Medical College Hospital.

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Song, Y., Zhao, D., Li, L. et al. Health-related quality of life in children with osteogenesis imperfecta: a large-sample study. Osteoporos Int 30, 461–468 (2019). https://doi.org/10.1007/s00198-018-4801-5

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  • DOI: https://doi.org/10.1007/s00198-018-4801-5

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