Dados do Trabalho

Título

COMPARATIVE EVALUATION OF MOTOR SKILLS IN CHILDREN WITH SPINAL MUSCULAR AMYOTROPHY TYPE 1 BEFORE AND AFTER SPINRAZA® ADMINISTRATION

Introdução

Spinal Muscular Amyotrophy (SMA) is a neuromuscular, genetic and hereditary disease, of autosomal and recessive character, characterized by degeneration and loss of motor neurons in the spinal cord and in the brainstem, causing progressive muscle weakness and hypotonia. There are four types of SMA, which are differentiated by the age of onset of symptons and the degree of motor development. In Brazil, there is no curative treatment available, requiring a specific drug that delays its development. Spinraza (nusinersena) is one of the principal drugs indicated in cases of SMA, it is a antisense oligonucleotide drug (ASO), which is capable of synthesizing a biologically active and functional “survival of motor neuron” (SMN) protein.

Objetivo

The study’s objective was to compare the motor functions in children with SMA Type I before and after the application of Spinraza®

Método

Six children diagnosed with SMA Type 1 were analyzed. The data were analysed using IBM SPSS Statistics 22 (2013). The Shapiro-Wilk normality test was performed. The significance level () applied in the test was 5%. The collected data were organized in Microsoft Excel 2010® Software.

Resultados e Conclusões

The mean age was 37.8 months, the study group was composed by 66.7% male and 33.3% female, who underwent treatment with Spinraza, with an average initial age of 21.3 months of life. The results obtained during the experiment showed that the application of the 4th dose presented an increase in the score, compared to the control group. The administration of the 6th dose also pointed improvement in the evaluation (Average 28.00 ± 16.57). Most patients showed a mean improvement of 6.17 points after the sixth dose, and there was a mean improvement of 13 and 6.83 points. The administration of the 4th dose showed no significant difference between children of both genders (p>0.05) and the administration of the 6th dose did not show any significant difference either. Thus, there was a significant improvement in motor skills as the treatment proceeded, without positive interference from sex, age or date of initiation of treatment.

Palavras Chave

Spinal Muscular Amyotrophy; Spinraza; nusinersena; children

Declaração de conflito de interesses de TODOS os autores

THERE IS NO CONFLICT OF INTEREST TO DECLARE

Fonte de Fomento (se houver)

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Área

Doenças neuromusculares