Calidad de vida en niños y adolescentes con Atrofia Muscular Espinal / Quality of life in children and adolescents with Spinal Muscular Atrophy

INTRODUCCIÓN: La calidad de vida (CV) es un aspecto fundamental del tratamiento en pacientes con Atrofia Muscular Espinal (AME). Existe escasa información a nivel local e internacional. OBJETIVO: Caracterizar la CV en una muestra de niños y adolescentes chilenos con AME. SUJETOS Y MÉTODO: Estudio observacional, transversal. Se aplicó un cuestionario y el módulo neuromuscular 3.0 de la encuesta PedsQLtm, a padres de niños con AME de 2-18 años. Ésta consta de 3 ámbitos: Enfermedad, Comunicación y Familia. Se consideró el puntaje >60 como CV buena, 30-60 regular y <30, deficiente. Se utilizó el programa MINITAB-17®, considerando significativo p ≤ 0,05. RESULTADOS: Se reclutaron 38 pacientes, con edad mediana 8 años (2-18), 52,7% hombres, y 17 (44,7%) AME I. Todos con confirmación genética. El puntaje total fue 51,92 ± 17, correspondiendo 31% a CV buena, 55% regular y 14% baja. En AME I fue 46,5 ± 15,2 y en AME II-III, 56,3 ± 17,4 (p = 0,071). Para el ámbito de Enfermedad fue 53,83 ± 18,1, de Familia 48,6 ± 23,14 y Comunicación 33,3 (RIC: 0,0-83,33). En este último, tuvieron mayor puntaje los pacientes con AME II o III, los mayores de 6 años, los con menor apoyo ventilatorio y los residentes en regiones. Sin embargo, en el análisis multivariado solamente el tipo de AME fue significativo, explicando 40,9% de la variación del puntaje del área de comunicación. Conclusiones: En esta muestra de pacientes con AME, la calidad de vida fue regular a buena en la mayoría. El área más baja fue la de Comunicación, con mayor puntaje en aquellos con mayor capacidad motora funcional.

INTRODUCTION: Quality of life (QoL) is a key aspect in the treatment of patients with Spinal Muscular Atrophy (SMA). International information regarding QoL in SMA is scarce, and is not available in our country. OBJECTIVE: To characterize QoL in a sample of Chilean children and adolescents with SMA. SUBJECTS AND METHOD: Observational, cross-sectional study. A general questionnaire and the PedsQLTM 3.0 Neuromuscular Module Inventory were applied to parents of children with SMA aged 2 to 18 years. It has three areas: Disease, Communication, and Family. A score >60 was considered as good QoL, 30-60 as regular, and <30 as low. MINITAB-17® software was used, considering significant a p <0.05 value. RESULTS: We recruited 38 patients, with median age 8 years (2-18), 52.63% were male, and 17 (44.7%) with SMA I. All had genetic confirmation. The total score of QoL was 51.92 ± 17, representing 31% good, 55% regular, and 14% low. Regarding SMA I, it was 46.5 ± 15.2 and SMA II-III, 56.3 ± 17.4 (p = 0.071). Concerning the area of Disease, it was 53.83 ± 18.1, Family 48.6 ± 23.14, and Communication 33.3 (IQR: 0.0; 83.33). In this last area, children with SMA II-III, older than 6 years., with non-invasive ventilatory support, or living out of the metropolitan area had hig her scores, however, in multivariate analysis, only SMA type was significant, which explained 40,9% of the variation in the communication area score. CONCLUSIONS: In this sample of SMA pediatric patients, the QoL was regular or good in most of them. The lowest area was communication, with a higher score in those children with higher motor function.

Spinal muscular atrophy 5Q - Treatment with nusinersen

The Guidelines Project, an initiative of the Brazilian Medical Association, aims to combine information from the medical field in order to standardize producers to assist the reasoning and decision-making of doctors. The information provided through this project must be assessed and criticized by the physician responsible for the conduct that will be adopted, depending on the conditions and the clinical status of each patient.

[Clinical, electrophysiologic and genetic characteristics of childhood onset spinal muscular atrophy]

Spinal muscular atrophy[SMA] is one of the most common autosomal recessive disorders characterized by degeneration of anterior born cells in the spinal cords and leads to progressive muscular weakness and atrophy. The last 10 years have seen major advances in the field of diagnosis of SMA, but no curative treatment is available now. This study aimed to analyze the clinical characteristics of different types of SMA, improve the clinical diagnosis of SMA and prenatal diagnosis of SMA by gene analysis. Patients with SMA were recruited from neurologic clinic from January 2004 to March 2006. The diagnosis of SMA was made from clinical history and examination, electro physiologic assessment or molecular studies. The clinical characteristics and changes of electrophysiology were assessed in all patients. The deletion of survival motor neuron [SMN] and neuronal apoptosis inhibitory protein [NAIP] genes was studied by PCR. Based on age of onset, age of death, achievement of motor milestones and ambulatory status patients classified into SMA I, SMA II and SMA III. The 42 patients, including 28[66.7%] males and 14[33.3%] females were enrolled in this study. The patients were subdivided into clinical groups: 30 [71.7%] of case with SMA I 9[21.4%] of cases with SMA II, 2[4.8%] of case with SMA III and 1[2.4%] of cases with SMA diaphragmatic. They were all characterized by symmetric muscle weakness [more proximal than distal] associated with atrophy, absence or marked decrease of deep tendon reflexes. Fasciculation of tongue was noted in 59.5% of patients. Electroghsiologic studies showed a neurogenic pattern with denervation potentials on 92.8% of cases. The SMN gene was deleted in 78.5% of patients and the NAIP gene was deleted in 54.8% of cases. Deletion of NAIP gene was more common in SMA I, and its deletion correlated with the severity of diseases [P=0.011]. The definite diagnosis of SMA will relay on typical clinical characteristics and changes of electrophysiologic study and gene deletion gene. Genetic diagnosis of SMA can provide a basis of prenatal diagnosis of SMA

Amiotrofia espinal infantil com evoluçäo atípica: relato de dois casos / Infantile spinal amyotrophy with atypical course: report of 2 cases

Os autores relatam dois casos de amiotrofia espinal infantil, confirmados por exame eletroneuromiográfico, que evoluiram de forma atípica. No primeiro, criança do sexo feminino de 10 anos de idade, a sintomatologia motora foi de predomínio distal. No outro, paciente do sexo feminino de 7 anos de idade, o quadro foi rapidamente progressivo em 4 meses, ocorrendo óbito após 10 meses. Säo apresentadas as classificaçöes mais aceitas da doença, discutindo-se a caracterizaçäo da forma clínica apresentada por nossos pacientes