ESPE Yearbook of Paediatric Endocrinology

Orphanet Journal of Rare Diseases, (2025). 20(1), 175. https://doi.org/10.1186/s13023-025-03678-4

Brief Summary: This prospective, single-centre study evaluated the impact of a 12-month, individually-adapted physical activity programme on 30 children and adolescents with osteogenesis imperfecta (OI). The study demonstrated an improvement of 17% in the 6-minute walk test (6 MWT) distance, alongside a reduction in fracture incidence and an improvement in quality of life for those with high baseline difficulty.

Commentary: Osteogenesis imperfecta (OI) is a rare genetic disorder characterised by bone fragility and an increased susceptibility to fractures. While current treatments primarily focus on reducing fracture incidence and improving quality of life, the role of physical activity in managing OI remains under-explored. This study investigates the benefits of adapted physical activity (APA) for paediatric patients with OI.

The main findings include a 17% increase in 6MWT distance, indicating improved physical capacity and endurance, as well as a reduction in fracture incidence from 40% to 20%. Additionally, quality of life improved for participants who initially reported greater difficulty. While previous studies have demonstrated improvements in the physical capacity of patients with OI, the current findings are notable as they show the feasibility and advantages of a home-based APA programme. This offers a more accessible and sustainable approach, which is particularly important when access to specialised rehabilitation centres is limited. The study design involved regular contact with an APA instructor and comprehensive assessments to ensure adherence and monitoring.

This study highlights the need to integrate tailored APA programmes into the routine clinical management of children with OI, enhancing long-term outcomes and supporting their overall well-being.