Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta

The aim of this study was to describe physical activity, quality of and satisfaction with life, pain, joint mobility and muscle function in adults with mild-to-moderate osteogenesis imperfecta (OI) to form the basis of improved clinical care and physical therapy treatment.

A total of 40 men and women aged between 21 and 71 years were identified and a prospective, cross-sectional study was performed on 29 (18 women) included participants. The participants had to be able to walk and to have a diagnosis of mild-to-moderate OI. Self-administered questionnaires and clinical examinations were used.

Difficulties were found in all domains of the International Classification of Functioning, Activity and Health. Pain was reported in 25 of 29 participants and scoliosis was found in 23 participants. Difficulty to run was estimated in 18 participants. A total of 19 of 27 participants reported reaching the recommendations of 30 min of moderate-intensity activity preferably every day. Life satisfaction was high even though health-related quality of life, assessed with the Short Form 36, was significantly lower than the Swedish norm.

Impairments and activity limitations involved pain, scoliosis, contractures as well as trouble with running, heavy lifting, heavy work and sports. This study show that individuals with mild-to-moderate OI perceive themselves as having decreased health-related quality of life and this seems to depend on decreased physical functioning. Despite that, as a group, they estimated high life satisfaction and 19 participants reported adhering to the general recommendation of 30 min of moderate-intensity activity preferably every day.