Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations
Abstract Background Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been channeled towards understanding molecular mechanisms and developing ne...
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| Format: | Article |
| Language: | English |
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BMC
2022-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02394-7 |
| _version_ | 1817976652684066816 |
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| author | Peikai Chen Zhijia Tan Anmei Qiu Shijie Yin Yapeng Zhou Zhongxin Dong Yan Qiu Jichun Xu Kangsen Li Lina Dong Hiu Tung Shek Jingwen Liu Eric H. K. Yeung Bo Gao Kenneth Man Chee Cheung Michael Kai-Tsun To |
| author_facet | Peikai Chen Zhijia Tan Anmei Qiu Shijie Yin Yapeng Zhou Zhongxin Dong Yan Qiu Jichun Xu Kangsen Li Lina Dong Hiu Tung Shek Jingwen Liu Eric H. K. Yeung Bo Gao Kenneth Man Chee Cheung Michael Kai-Tsun To |
| author_sort | Peikai Chen |
| collection | DOAJ |
| description | Abstract Background Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been channeled towards understanding molecular mechanisms and developing new treatments. It has recently become more apparent that patient-reported outcome measurements (PROM) during treatment, healing and rehabilitation are helpful in facilitating smoother communication, refining intervention strategies and achieving higher quality of life. To date, systematic analyses of PROM in OI patients remain scarce. Results Here, utilizing a PROM Information System, we report a cross-sectional and longitudinal study in a southern Chinese cohort of 90 OI patients, covering both the child and adult age-groups. In the child group where both self and parental surveys were obtained, we identified two clusters of comparable sizes showing different outlooks in physical mobility and emotional experiences. One cluster (Cluster 1) is more negative about themselves than the other (Cluster 2). A concordance of 84.7% between self and parental assessments was recorded, suggesting the stability and validity of PROM-based stratification. Clinical subtyping, deformity, leg length discrepancy, and limited joint mobility were significantly associated with this stratification, with Cluster 1 showing higher percentages of severe phenotypes than Cluster 2. Since OI is a genetic disorder, we performed genetic testing on 72 of the 90 patients, but found no obvious association between genotypes and the PROM stratification. Analyses of longitudinal data suggested that patients tended to stay in the same psychological state, in both clusters. Adult patients also showed a continuous spectrum of self-evaluation that matches their clinical manifestations. Conclusion By systematically analyzing patient-reported outcomes, our study demonstrated the link between the sociopsychological wellbeing of OI patients, and their clinical manifestations, which may serve as the basis for evaluating clinical interventions and help achieve better patient-centric medical practices. The lack of genotype-PROM association may be due to the diverse mutational spectrum in OI, which warrants further investigation when a larger sample size is available. |
| first_indexed | 2024-04-13T22:05:32Z |
| format | Article |
| id | doaj.art-b45f7876371f4926abaf01ca67686ae0 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T22:05:32Z |
| publishDate | 2022-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-b45f7876371f4926abaf01ca67686ae02022-12-22T02:27:57ZengBMCOrphanet Journal of Rare Diseases1750-11722022-06-0117111610.1186/s13023-022-02394-7Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestationsPeikai Chen0Zhijia Tan1Anmei Qiu2Shijie Yin3Yapeng Zhou4Zhongxin Dong5Yan Qiu6Jichun Xu7Kangsen Li8Lina Dong9Hiu Tung Shek10Jingwen Liu11Eric H. K. Yeung12Bo Gao13Kenneth Man Chee Cheung14Michael Kai-Tsun To15Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Physiotherapy, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)School of Biomedical Sciences, The University of Hong KongDepartment of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH)Abstract Background Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been channeled towards understanding molecular mechanisms and developing new treatments. It has recently become more apparent that patient-reported outcome measurements (PROM) during treatment, healing and rehabilitation are helpful in facilitating smoother communication, refining intervention strategies and achieving higher quality of life. To date, systematic analyses of PROM in OI patients remain scarce. Results Here, utilizing a PROM Information System, we report a cross-sectional and longitudinal study in a southern Chinese cohort of 90 OI patients, covering both the child and adult age-groups. In the child group where both self and parental surveys were obtained, we identified two clusters of comparable sizes showing different outlooks in physical mobility and emotional experiences. One cluster (Cluster 1) is more negative about themselves than the other (Cluster 2). A concordance of 84.7% between self and parental assessments was recorded, suggesting the stability and validity of PROM-based stratification. Clinical subtyping, deformity, leg length discrepancy, and limited joint mobility were significantly associated with this stratification, with Cluster 1 showing higher percentages of severe phenotypes than Cluster 2. Since OI is a genetic disorder, we performed genetic testing on 72 of the 90 patients, but found no obvious association between genotypes and the PROM stratification. Analyses of longitudinal data suggested that patients tended to stay in the same psychological state, in both clusters. Adult patients also showed a continuous spectrum of self-evaluation that matches their clinical manifestations. Conclusion By systematically analyzing patient-reported outcomes, our study demonstrated the link between the sociopsychological wellbeing of OI patients, and their clinical manifestations, which may serve as the basis for evaluating clinical interventions and help achieve better patient-centric medical practices. The lack of genotype-PROM association may be due to the diverse mutational spectrum in OI, which warrants further investigation when a larger sample size is available.https://doi.org/10.1186/s13023-022-02394-7Osteogenesis imperfectaRare diseasePsycho-physicalPROMGenetic testingPatient stratification |
| spellingShingle | Peikai Chen Zhijia Tan Anmei Qiu Shijie Yin Yapeng Zhou Zhongxin Dong Yan Qiu Jichun Xu Kangsen Li Lina Dong Hiu Tung Shek Jingwen Liu Eric H. K. Yeung Bo Gao Kenneth Man Chee Cheung Michael Kai-Tsun To Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations Orphanet Journal of Rare Diseases Osteogenesis imperfecta Rare disease Psycho-physical PROM Genetic testing Patient stratification |
| title | Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations |
| title_full | Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations |
| title_fullStr | Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations |
| title_full_unstemmed | Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations |
| title_short | Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations |
| title_sort | patient reported outcomes in a chinese cohort of osteogenesis imperfecta unveil psycho physical stratifications associated with clinical manifestations |
| topic | Osteogenesis imperfecta Rare disease Psycho-physical PROM Genetic testing Patient stratification |
| url | https://doi.org/10.1186/s13023-022-02394-7 |
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