Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations

Orphanet Journal of Rare Diseases

Michael Kai-Tsun To¹  Peikai Chen¹  Zhijia Tan¹  Yapeng Zhou¹  Jingwen Liu¹  Yan Qiu¹  Zhongxin Dong¹  Lina Dong¹  Kenneth Man Chee Cheung¹  Shijie Yin¹  Hiu Tung Shek¹  Jichun Xu¹  Anmei Qiu¹  Kangsen Li¹  Eric H. K. Yeung²  Bo Gao³ 

[1] 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 Kong;

关键词: Osteogenesis imperfecta;    Rare disease;    Psycho-physical;    PROM;    Genetic testing;    Patient stratification;   

DOI  :  10.1186/s13023-022-02394-7

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown