Development of percentile curves for motor performance in children and adolescents with Charcot-Marie-Tooth disease.javascript: tab_goToTab("1","changeTab(\"projectIdentification\",\"false\")")

• Grant number: 24/13227-8
• Support Opportunities: Scholarships in Brazil - Master
• Start date: December 01, 2024
• End date: July 31, 2026
• Field of knowledge: Health Sciences - Physiotherapy and Occupational Therapy
• Principal Investigator: Ana Cláudia Mattiello-Sverzut
• Grantee: Camila Fernanda de Freitas
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

Charcot-Marie-Tooth disease (CMT) represents the most common group of hereditary peripheral neuropathies. For children and adolescents with CMT, the assessment of motor performance and musculoskeletal aspects allows clinical and functional impairment to be identified. However, the behavior of variables such as muscular strength, muscular power, sensitivity, dexterity, balance, locomotion and distal deformities in different age groups and subtypes of the disease in Brazilian children still remains to be explored. Therefore, the objective of this study will be to create percentile curves of variables related to the motor performance and musculoskeletal system of children and adolescents diagnosed with CMT who undergo follow-up at a reference center. As secondary outcomes, this study aims to identify variables sensitive to disease progression. The study will analyze information from 97 patients, obtained from the database of the Physiotherapy Outpatient Clinic for Children and Adolescents with Charcot-Marie-Tooth disease at the Hospital das Clínicas of the Faculty of Medicine of Ribeirão Preto of the University of São Paulo. Data stored during the period from January 2014 to December 2024 will be analyzed. To compile the data and construct percentile curves, Generalized Additive Models for Location, Scale and Shape (GAMLSS) with an Exponential Box-Cox Power distribution will be used. (BCPE). To verify which variables are most sensitive to the progression of childhood CMT, the Standardized Response Mean (SRM) will be calculated for each assessment measure and a significance level of 5% will be adopted.