Purpose: To analyze clinical and functional features of children and adolescents with osteogenesis imperfecta (OI).
Methods: A cross-sectional study of 62 participants examined clinical, body structure and function and activity features.
Results: A total of 31 participants had OI type I, 9 had type III, and 22 had type IV. Mild (type I) and moderate/severe (types III and IV) OI differed significantly in occurrence of fractures, presence of bone deformities, the use of intramedullary rods, bone mineral density, and bisphosphonate therapy. Age of gait acquisition showed an association with overall joint range of motion and an inverse relationship with overall muscle strength. Level of ambulation was associated with overall muscle strength and inversely associated with overall joint range of motion.
Conclusions: Features vary according to OI type. Moderate and severe forms of OI are associated with greater functional limitation, influenced by fracture history, which negatively affects the acquisition and level of ambulation.
Moderate and severe forms of OI were found to be associated with greater functional limitation and influenced by fracture history, which negatively affect the acquisition and level of ambulation.
Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul (Ms Brizola and Dr Félix); Physiatry and Rehabilitation Service (Ms Staub), Medical Service (Dr Félix), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Correspondence: Têmis Maria Félix, MD, PhD, Medical Genetics Service – Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Brazil (firstname.lastname@example.org).
Grant Support: This study was sponsored by Fundo de incentivo à pesquisa e eventos (FIPE)/Hospital de Clínicas de Porto Alegre. Ms Brizola was supported by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
The study was completed while Evelise Brizola was a master's degree student in the Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
The authors declare no conflicts of interest.