Abstract
Objectives:To evaluate differences over time (mean follow-up, 14 months) on impairment parameters (range of joint motion and muscle strength), functional limitation parameters (functional ability), and disability parameters (caregiver assistance in achieving functional skills) in osteogenesis imperfecta (OI), related to the different types of the disease. Design: A prospective, descriptive study. Materials and Methods: Fifty-four children with OI and their parents participated at the start of the study. At the end, 44 children participated in the assessment of functional skills and 42 of them participated in clinical assessment (OI type I, n = 19; OI type III, n = 13; OI type IV, n = 10). Range of joint motion was measured by means of goniometry. Generalized hypermobility was scored according to Bulbena. Manual muscle strength was scored by means of the MRC grading system. The level of ambulation was scored according to Bleck, and functional skills and caregiver assistance were scored with the Pediatric Evaluation of Disability Inventory. Results: The different types of OI have impact on impairment, functional limitation, and disability. Almost all impairment parameters did not change significantly over time, whereas some disability parameters seemed to improve significantly. Conclusions: Impairment parameters in OI are presumably not always preconditions for functional limitation and disability. A 1-year follow-up revealed no significant changes in impairment parameters, whereas some disability parameters improved. Treatment strategies in OI should, therefore, focus primarily on improving functional ability, with respect to the natural course of the disease, and not only on impairment parameters.
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