Background: Osteogenesis imperfecta (OI) is a rare congenital disorder that greatly compromises the quality of bones, inflicting debilitating distress both physically and psychologically to patients and caregivers. Over the decades, much efforts have been channeled towards understanding genetic mechanisms and exploring new treatments. Nonetheless, it has recently become more aware that the patient reported outcomes (PRO) and health status during treatment, healing and rehabilitation, are important basis that facilitates smoother communication, refines interventions strategies and achieves higher quality of life. To date, systematic studies and analyses of PRO in OI patients remain scarce.
Results: Here, harnessing the Patient-Reported Outcomes Measurement Information System (PROMIS), we report a cross-sectional and longitudinal study in a cohort of 90 OI patients from southern China, covering both children and adult age-groups. In the young 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 is more positive about themselves than the other. Remarkably, we found a concordance of 84.7% between self and parental assessments, suggesting the stability of the stratification and validity of the PROMIS instruments. We further found that clinical subtyping, deformity, leg length discrepancy and limited joint mobility were significantly associated with this patient stratification, with the cluster with poorer physical functioning and higher psychological depression showing higher percentage of more severe deformity. Analyses of longitudinal data suggested that patients tend 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 probing deep into the subjective quantitation of patient reported outcomes, our study demonstrates the diverse sociopsychological spectrum among OI patients that matches their objective clinical manifestations, which may serve as the basis for evaluating clinical interventions and help achieve better patient-centric medical practices and health maintenance.