Quality of life in osteogenesis imperfecta

The purpose of this study was to quantify the physical and mental health of a diverse adult cohort of patients with osteogenesis imperfecta (OI) utilizing a validated health self-assessment questionnaire (SF-36). In addition, a specific demographic questionnaire and a functional questionnaire were utilized to assess more specifically the physical limitations imposed by osteogenesis imperfecta in adulthood. The results of the SF-36 revealed significantly lower physical function scores compared to the U.S. adult norms. However, the SF-36 mental component scores were equal to the U.S. adult norms. The demographic questionnaire revealed high levels of educational achievement, as well as employment, despite significant physical impairments. The functional questionnaire clearly demonstrated limitations mostly related to ambulation.