Publications by authors named "Gabriela Palhares Campolina-Sampaio"
Background: The Hammersmith Functional Motor Scale Expanded (HFMSE) has been widely used to assess the motor function of patients with spinal muscular atrophy (SMA) older than 2 years, with the ability to sit and/or walk.
Objective: To translate, cross-culturally adapt and validate the HFMSE to Brazilian Portuguese.
Methods: The translation process and cross-cultural adaptation followed international guidelines recommendations.
Article Synopsis
- The study aimed to analyze the genetic variations in the survival motor neuron 1 (SMN1) gene among Brazilian patients with spinal muscular atrophy (SMA) and to connect these variants with disease severity.
- Out of 450 patients, the majority (89.3%) had a common deletion in exon 7, while others had a mix of this deletion and additional point mutations, with certain variants being more prevalent in compound heterozygous cases.
- The research concluded that specific variants (c.460C>T and c.5C>G) were linked to milder disease forms, and that the copy number of the gene did not consistently predict disease severity among these patients.*
Objective: The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil.
Methods: The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8). Scores were obtained for the various dimensions of the NPMDS, and comparisons were drawn between the groups.