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Functional status of individuals with osteogenesis imperfecta: data from a reference center
Patricia de Abreu Farias Carvalho1, Taiane Sousa Regis2, Adriana Virgínia Barros Faiçal3
1Programa de Pós-graduação em Medicina e Saúde, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, BA, Brasil; Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brasil.
This study assessed functional status in Osteogenesis Imperfecta (OI) patients. Results show reduced motor function and mobility, particularly in type III OI, highlighting the need for targeted interventions.
Area of Science:
- Pediatric Rehabilitation
- Rare Genetic Disorders
Background:
- Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by fragile bones.
- Functional status and mobility are critical aspects of managing OI, impacting quality of life.
Purpose of the Study:
- To evaluate the functional status of individuals with Osteogenesis Imperfecta (OI) in Bahia.
- To assess motor function, muscle strength, and overall functional performance in pediatric OI patients.
Main Methods:
- Observational, cross-sectional, descriptive study.
- Utilized Motor Function Measure (MFM), Medical Research Council (MRC) score for muscle strength, and Pediatric Assessment of Disability Inventory, Computerized Adaptive Testing (PEDI-CAT).
Main Results:
- Thirty-one individuals aged 2-18 years were evaluated.
- Overall MFM score was 74.2%, with type III OI scoring lowest (56.3%).
- Mobility domain in PEDI-CAT was most affected (mean T score 23.9), especially in type III OI (14.2).
Conclusions:
- Identified significant functional alterations in OI patients.
- Demonstrated reduced gross motor functionality and muscle strength, impacting mobility.
- Type III OI patients exhibited the most severe functional impairments.
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