Terapia con cánula nasal de alto flujo en pacientes pediátricos en domicilio / High flow nasal cannula therapy in pediatric patients at home

Se realiza comentario de estudio de Israel en el cual analizan 75 pacientes pediátricos que utilizaron cánula nasal de alto flujo (CNAF) en domicilio, evaluando la seguridad, las indicaciones, los parámetros de utilización, la duración del tratamiento, los resultados clínicos y la satisfacción de los padres. Se acompaña de una revisión de la literatura del tema.

A comment is made on a study conducted in Israel analyzing 75 pediatric patients who used high-flow nasal cannula at home, evaluating safety, indications, utilization parameters, treatment duration, clinical outcomes, and parental satisfaction. It is accompanied by a literature review on the topic.

Respiratory muscle impairment evaluated with mep/mip ratio in children and adolescents with chronic respiratory disease / Fraqueza muscular respiratória avaliada por meio da relação pemax/pimax em crianças com doença respiratória crônica

ABSTRACT Objective: To evaluate the strength of respiratory muscles and to compare maximum inspiratory (MIP) and expiratory (MEP) pressure and MEP/MIP ratio between patients with chronic respiratory diseases and healthy individuals. Methods: Case-control study. Individuals with neuromuscular disease and post-infectious bronchiolitis obliterans were considered. In addition, they were also matched according to anthropometric and demographic characteristics with healthy children and adolescents. MIP, MEP in the three groups, and pulmonary function only in patients with chronic respiratory diseases were recorded. Results: A total of 52 subjects with CRD (25 with neuromuscular disease, and 27 with post-infectious bronchiolitis obliterans) and 85 healthy individuals were included, with an average age of 11.3±2.1 years. Patients with neuromuscular disease and post-infectious bronchiolitis obliterans presented lower MIP and MEP when compared with healthy individuals, although MEP/MIP ratio was lower in patients with neuromuscular disease (0.87±0.3) and higher in patients with post-infectious bronchiolitis obliterans (1.1±0.3) compared to the healthy group (0.97±0.2). Only in patients with neuromuscular disease a negative correlation was observed between MEP/MIP ratio and age (r=-0.50; p=0.01). Conclusions: Differences in the pattern of muscular weakness between patients with chronic respiratory diseases were observed. In patients with neuromuscular disease, a decrease in the MEP/MIP ratio depending on MIP was verified; and in those patients with post-infectious bronchiolitis obliterans, an increase in the MEP/MIP ratio depending on MIP was also observed.

RESUMO Objetivo: Avaliar a força dos músculos respiratórios e comparar a relação entre a pressão expiratória máxima (PEmáx) e a pressão inspiratória máxima (PImáx) em pacientes com doença respiratória crônica (DRC) e crianças saudáveis. Métodos: Estudo caso-controle. Foram selecionados indivíduos com doença neuromuscular e bronquiolite obliterante pós-infecciosa. Ademais, os grupos foram pareados com crianças e adolescentes saudáveis, considerando características antropométricas e demográficas. Foram registradas a PImáx e a PEmáx nos três grupos e a função pulmonar apenas em pacientes com doença respiratória crônica. Resultados: Foram incluídos 52 indivíduos com DRC (25 com doença neuromuscular e 27 com bronquiolite obliterante pós-infecciosa) e 85 indivíduos saudáveis, com idade média de 11,3±2,1 anos. Pacientes com doença neuromuscular e bronquiolite obliterante pós-infecciosa apresentaram menor PImáx e PEmáx em comparação aos indivíduos saudáveis, embora a relação PEmáx/PImáx tenha sido menor nos pacientes com doença neuromuscular (0,87±0,3) e maior nos pacientes com bronquiolite obliterante pós-infecciosa (1,1±0,3) em comparação ao grupo saudável (0,97±0,2). Somente em pacientes com doença neuromuscular foi observada uma correlação negativa entre a razão PEmáx/PImáx e a idade (r=-0,50; p=0,01). Conclusões: Foram observadas diferenças no padrão de fraqueza muscular em pacientes com doença respiratória crônica. Nos pacientes com doença neuromuscular, verificou-se diminuição na relação PEmáx/PImáx dependendo da PImáx; em pacientes com bronquiolite obliterante pós-infecciosa, foi observado aumento na relação dependendo da PImáx.

Manejo respiratorio en atrofia muscular espinal: cambio de paradigma en la era de las nuevas terapias específicas / Respiratory care in spinal muscular atrophy in the new therapeutic era

Resumen: La atrofia muscular espinal (AME) es la enfermedad genética mortal más frecuente en lactantes, con severidad variable. Se clasifica en cuatro subtipos: tipo 0 de inicio prenatal y recién nacido ya afecta do, con ausencia de esfuerzo respiratorio y ningún desarrollo motor, tipo 1 de inicio en menores de 3 meses que no logran sentarse, tipo 2 que logran sentarse, pero no caminar y tipo 3 que consiguen caminar. La causa más seria de morbimortalidad es la neumonía y la insuficiencia respiratoria. La información a los cuidadores debe contemplarse desde el diagnóstico, para la toma de decisiones anticipadas. Los objetivos del manejo incluyen el estímulo de la tos, evitar la deformación de la caja torácica, la hipoventilación, y tratar oportunamente las infecciones respiratorias, el trastorno de de glución, el reflujo gastroesofágico y la malnutrición. El objetivo de esta actualización es discutir los nuevos desafíos en cuidados respiratorios con un enfoque preventivo, considerando la reciente dis ponibilidad de tratamientos específicos -oligonucleótidos antisentido nusinersen- y otros que están en desarrollo, incluída la terapia génica.

Abstract: Spinal muscular atrophy (SMA) is the first inherited cause of mortality in infants, with four subtypes: SMA0 prenatal onset, SMA1 babies less than 3 months non sitters, SMA2 sitters and SMA3 walkers. Pneumonia and respiratory insufficiency are the most severe complications. Informed parental de cisions are relevant. Respiratory management includes cough assistance, prevention of lung under development due to chest deformity, prompt treatment of respiratory infections, hypoventilation, swallow problems, gastro esophageal reflux and malnutrition. In view of the FDA and EMA approval of the nonsense oligonucleotides nusinersen, the first specific treatment for SMA and the future with gene therapy and others under development, we need to optimize preventive respiratory manage ment with the new standard of care.

Manejo ventilatorio no invasivo de un paciente con enfermedad de Steinert / Non-invasive ventilatory management of a patient with Steinert's disease

Introducción: la enfermedad de Steinert es una enfermedad neuromuscular crónica y progresiva de carácter autosómico dominante. Debido a que puede afectar a los músculos respiratorios, los pacientes se benefician de distintas técnicas de fisioterapia con el fin de evitar complicaciones. Caso clínico: paciente con enfermedad de Steinert que fue tratada en un hospital público de la provincia de Buenos Aires durante un cuadro de insuficiencia respiratoria aguda, de manera no invasiva. Comentarios: esta experiencia muestra que estos pacientes pueden ser tratados de manera no invasiva, fuera de la unidad de cuidados intensivos, y ser controlados ambulatoriamente luego de su egreso pudiendo reinsertarse en la comunidad. Asimismo, cabe destacar que esto fue posible en un hospital público, dentro de un contexto institucional y socioeconómico desfavorable(AU)

Introduction: Steinert's disease is a chronic and progressive autosomal dominant neuromuscular disease. Because this disease can affect respiratory muscles, these patients benefit from different physiotherapy techniques in order to avoid complications. Case presentation: patient with Steinert's disease who was treated in a Public Hospital of the Province of Buenos Aires during an acute respiratory failure with non-invasive way. Comments: This experience shows that these patients can be treated non-invasively, outside the intensive care unit, and be controlled outpatient after discharge, being able to be reinserted in the community. It should also be noted that this was possible in a public hospital, within an unfavorable institutional and socio-economic context(AU)

Traducción transcultural al español de la clasificación neuromuscular NM-Score sobre funcionalidad motora gruesa, en pacientes con patología neuromuscular / Spanish crosscultural translation of the neuromuscularclassification NM-Score of gross motor function in patientswith neuromuscular diseases

Introduction: Cultural adaptation is a process that is applied in early phases of validation. The “Neuromuscular Score” is an instrument that classifies the gross motor function in people with neuromuscular diseases. It was created in France and has not yet been validated in Chile. Objectives: To carry out the cross cultural adaptation of the “NM Score” from the original version in French to Spanish according to the International standard of translation methodology. Patients and Method: The cross cultural adaptation is a descriptive and transversal study. This study is based on the FACIT methodologic process proposed by Eremenco. Seven health professionals, who achieved inclusion requirements, participated in the translation process. The reliability of the transcultural adaptation was determined with the final version. 30 patients from 6 to 26 years old, with neuromuscular pathology, were interviewed the Teletón Santiago Institute. Results: The methodologic process of translation and adaptation suggests that the translated version does not present great semantic differences. This process has a high global reliability measurements with Cronbach alpha coefficient = 0.93. Conclusion: The translation and adaptation process for NM Score obtained a reliable score and equivalence during its application, giving a representation of the functional compromise.

Introducción: La traducción y adaptación cultural de instrumentos de medición es un proceso que se aplica en las fases iniciales dentro de las etapas de validación de ellos. La Clasificación Puntaje Neuromuscular (NM-Score), es un instrumento que clasifica la severidad de la función motora gruesa en personas con patologías neuromusculares, creada en Francia y no validada en Chile. Objetivos: Realizar la adaptación transcultural de la clasificación NM-Score, desde la versión original en francés al español, según estándares internacionales de metodología de traducción y determinar su confiabilidad. Pacientes y Método: Estudio descriptivo, transversal, basado en metodología de traducción FACIT y medición de confiabilidad propuesto por Eremenco. Siete profesionales de la salud que cumplieron requisitos de inclusión participaron del proceso de traducción. La confiabilidad de la adaptación transcultural se determinó con la versión final de la Clasificación NM Score, que puede ser aplicada a pacientes y padres. Se entrevistaron a 30 usuarios, de 6 a 26 años, con diagnóstico de patología neuromuscular del Instituto Teletón Santiago. Resultados: El proceso metodológico de traducción y adaptación sugiere que la versión traducida no presenta grandes diferencias semánticas y tiene una alta confiabilidad global medido con α de Cronbach = 0,93. Conclusión: El proceso de traducción y adaptación de la Clasificación NM Score obtuvo una versión fiable y de equivalencia al momento de aplicarla a usuarios y padres, dando una representación del compromiso funcional.

Qualidade de vida em crianças e adolescentes com doenças neuromusculares e validação de dois questionários para o português: Life Satisfaction Index for Adolescents - LSI-A e Pediatric Quality of Life Inventory Duchenne Muscular Dystrophy Module / Quality of life in children and adolescents with neuromuscular diseases and validation of two questionnaires into Portuguese: Life Satisfaction Index for Adolescents - LSI-A and Pediatric Quality of Life Inventory Duchenne Muscular Dystrophy Module - PedsQL DMD

As distrofias musculares progressivas e a amiotrofia espinhal progressiva (AEP) são doenças neuromusculares (DNM) caracterizadas pela degeneração irreversível das fibras musculares, a qual leva à fraqueza muscular e à incapacidade motora. Qualidade de Vida Relacionada à Saúde (QVRS) inclui subjetividade, multidimensionalidade, aspectos negativos e positivos diante da percepção e da expectativa individual de vida; sofre influência cultural. JUSTIFICATIVA: A avaliação da QVRS é essencial para definir a resposta ao tratamento multidisciplinar ou efetivo do paciente com DNM e para sinalizar medidas destinadas a incrementar o sucesso terapêutico. OBJETIVOS: Validar os questionários Life Satisfaction Índex for Adolescents (LSI-A) versão pais e versão paciente e Pediatric Quality of Life Inventory Duchenne (PedsQL DMD) versão pais e versão paciente para o português; avaliar a QVRS dos pacientes com distrofia muscular de Duchenne (DMD), amiotrofia espinhal progressiva (AEP) ou distrofia muscular de cinturas (DMC); avaliar a QV familiar e da mãe/cuidadora. METODOLOGIA: Os questionários LSI-A e PedsQL DMD foram validados obedecendo às etapas de adaptação cultural e validação. Após validação, o questionário LSI-A foi aplicado a pacientes com DMD, AEP ou DMC; o PedsQL Duchenne foi aplicado aos pacientes com DMD e o PedsQL NM a pacientes com AEP ou DMC. Os pais dos pacientes responderam ao FQoL e as mães/cuidadoras ao WHOQOL-Bref. Para cálculo estatístico utilizaram-se: testes alfa de Cronbach, CIC, Pearson, Curva ROC para a validação, e Mann Whitney, Friedman e Dunn para a aplicação. RESULTADOS: Quanto à validação: Probe final do LSI-A versão pais, 97% e versão paciente, 95%; PesdQL DMD versão pais, 99% e versão paciente, 97%, sinalizando compreensão excelente; o teste ? de Cronbach no LSI-A versão pais e paciente, respectivamente, obteve escore geral 0.87 e 0.89; no PesdsQL versão pais e versão paciente, respectivamente, escore geral 0.87 e...

Progressive muscular dystrophies and spinal muscular atrophy (SMA) are neuromuscular diseases (NMD) characterized by irreversible degeneration of muscle fibers which leads to muscle weakness and motor disability. Health-related quality of life (HRQoL) includes subjectivity, multidimensionality, negative and positive aspects on the perception and individual life expectancy; in addition, it suffers cultural influences. BACKGROUND: The assessment of HRQoL is essential to define the response to the multidisciplinary or effective treatment of patients with NMD and to indicate measures to increase the therapeutic success. OBJECTIVES: to validate to the Portuguese the following HRQoL instruments for patients with NMD: Life Satisfaction Index for Adolescents (LSI-A) and Pediatric Quality of Life Inventory Duchenne (PedsQL Duchenne); to evaluate the HRQoL of patients with Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) or limb girdle muscular dystrophy (LGMD), and to assess the family and caregiver QoL. METHODOLOGY: The LSI-A and PedsQL Duchenne questionnaires were validated obeying the stages of cultural adaptation and validation. After validation, the LSI-A questionnaire was administered to patients with DMD, SMA or LGMD, the PedsQL Duchenne to patients with DMD, and the PedsQL NM to patients with SMA or LGMD. Parents of patients responded to FQoL and mothers/caregiver to WHOQOL-Bref. For statistical calculations were used: ? test Cronbach, CIC, Pearson, ROC curve for validation, and Mann Whitney, Friedman and Dunn for the application. RESULTS: Validation: the final "Probe" of the LSI-A parents version was 97% and patient version, 95%; PesdQL DMD parents version, 99% and patient version, 97%, indicating excellent comprehension; Cronbach's alfa test at LSI-A parents and patients version, respectively, achieved overall score 0.87 and 0.89; at PesdsQL parents and patient version, respectively, were obtained overall score 0.87 and 0.84. At...

Distrofia muscular de Duchenne: incidencia, prevalencia, características sociodemográficas y clínicas de pacientes ingresados a Teletón Chile desde 1993 a 2013 / Duchenne muscular dystrophy: incidence, prevalence, sociodemographic and clinical characteristics of patients admitted to Teletón Chile from 1993 to 2013

Duchenne muscular dystrophy (DMD) in their natural evolution leads to loss of ambulation between 7 and 13 years of age and death in adolescence close to 20 years. The estimated global incidence is of 1/3,500 male births; data in Chile is unknown. Objective: To estimate the incidence, prevalence of DMD and to describe clinical and sociodemographic characteristics of patients admitted to Teletón-Chile between 1993 and 2013. Patients and Method: A descriptive, retrospective, longitudinal study with review of medical records and database at Teletón. 462 DMD patients were admitted during the study period. Results: The incidence and prevalence in Teletón was of 1/6,558 male live births and the prevalence of 11.51 [CI 10.46 to 12.56] 105 men < 30 years. The average age of first consultation was 6.7 +/- 3.4 years, with mild or moderate functional level (65.6 percent). At the end of the study 67 percent were wheelchair users, with medical prescription at 10.8 +/- 3.3 years. 52.2 percent of patients were classified as extreme poverty, attended at Teletón centers of the central region (55.2 percent), and current average age of 14.7 +/- 5.7 years. 35.9 percent of DMD patients were dead at an average age of 18.1 +/- 3.5 years. Conclusion: The incidence and prevalence rates of DMD live births for males < 30 years admitted to Teletón, have declined between 1993-2011; as well as the average age of first consultation. The loss of ambulation and the average age of death are comparable with the current literature...

La distrofia muscular de Duchenne (DMD) en su evolución natural, produce pérdida de deambulación entre los 7 y 13 años de edad y la muerte en la adolescencia cercana a los 20 años. La incidencia mundial se estima de 1/3.500 nacimientos masculinos; en Chile se desconoce su magnitud. Objetivo: Estimar tasas de incidencia, prevalencia de DMD y describir características clínicas y sociodemográficas de pacientes ingresados a Institutos Teletón-Chile (IT) entre 1993 y 2013. Pacientes y Método: Estudio descriptivo, retrospectivo, longitudinal, con revisión de fichas clínicas y base de datos de IT. Se identificaron 462 pacientes con DMD, ingresados en el período estudiado. Resultados: La tasa de incidencia en IT fue de 1/6.558 nacidos vivos masculinos y prevalencia de 11,51 [IC: 10,46-12,56] por 105 varones < 30 años. Edad media de primera consulta: 6,7 +/- 3,4 años, con compromiso funcional leve o moderado (65,6 por ciento); al término del estudio el 67 por ciento eran usuarios de silla de ruedas, con prescripción médica a los 10,8 +/- 3,3 años. 52,2 por ciento de los pacientes de extrema pobreza, atendidos en IT zona central del país (55,2 por ciento), edad promedio actual de 14,7 +/- 5,7 años. El 35,9 por ciento estaban fallecidos, a la edad promedio de 18,1 +/- 3,5 años. Conclusión: Las tasas de incidencia y prevalencia de DMD para los nacidos vivos varones < 30 años ingresados a los IT, han disminuido entre 1993-2011; también la edad promedio de primera consulta. La pérdida de la marcha y la edad media de la defunción, son comparables con la literatura...