Autor(es)

Soares, Bruno Alvarenga ; de Freitas, Camila Fernanda ; Cardoso, Juliana ; de Baptista, Cyntia Rogean de Jesus Alves ; Marques, Wilson ; Mattiello-Sverzut, Ana Claudia

• Tipo de documento: Artigo Científico
• Fonte: Arquivos de Neuro-Psiquiatria; v. 83, n. 08, p. 8-pg., 2025-08-01.

Resumo

Background Charcot-Marie-Tooth disease (CMT) is a progressive neurological disorder that typically manifests in early childhood. The natural progression of CMT in Brazilian pediatric and adolescent populations remains unknown. Objective To evaluate the natural disease progression in Brazilian children and adolescents with CMT using the Charcot-Marie-Tooth Pediatric Scale (CMTPedS). Methods A longitudinal observational study was conducted to assess disease progression over a 2-year period through 3 evaluations, spaced 1 year apart, in children and adolescents aged 5 to 18 years with a confirmed CMT diagnosis. Height, weight, body mass index (BMI), fat-free mass, and functionality (assessed via the CMTPedS) were evaluated in each of the three sessions. Results We included 30 participants of both sexes with a mean age of 11.1 +/- 3.2 years. Significant increases in height, weight, and BMI were observed, alongside a decline in the percentage of lean body mass across evaluations. The total score on the CMTPedS increased by 4.5 points throughout 2 years, indicating disease progression, with notable deterioration in functional dexterity, pinprick and vibration sensations, and gait. Significant progression was evident within 1 year, with an average annual deterioration of 2.25 points. The subgroup with CMT type 1A (CMT1A) presented an increase of 4 points in the total score, corresponding to an average annual progression of 2 points. Unlike the overall CMT group, the CMT1 subgroup did not exhibit a decline in the pinprick sensation score. Conclusion Children and adolescents with CMT exhibit significant disease progression within 2 years, with measurable deterioration observed as early as 1 year. The CMTPedS is a reliable tool to monitor CMT progression in this population. (AU)

• Processo FAPESP: 24/13227-8 - Desenvolvimento de curvas de percentis do desempenho motor de crianças e adolescentes com doença de Charcot-Marie-Tooth.
• Beneficiário: Camila Fernanda de Freitas
• Modalidade de apoio: Bolsas no Brasil - Mestrado
• Processo FAPESP: 22/10786-0 - Uso de dispositivos de tecnologia assistiva em crianças e adolescentes com doença de Charcot-Marie-Tooth: estudo de viabilidade e prova de conceito
• Beneficiário: Juliana Cardoso
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 17/17596-4 - Capacidade aeróbia, força e potência muscular de crianças e adolescentes com doenças crônicas: caracterização e tratamento
• Beneficiário: Ana Cláudia Mattiello-Sverzut
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 24/06190-0 - Protocolo de avaliação cardiopulmonar de esforço máximo utilizando membros superiores em crianças e adolescentes típicos e com doença de Charcot-Marie-Tooth: estudo de confiabilidade intra e interexaminadores
• Beneficiário: Bruno Alvarenga Soares
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado