Electrocardiographic and Autonomic Nervous System Changes after Changes in the Posture of Children and Adolescents with Duchenne Muscular Dystrophy. / Alterações Eletrocardiográficas e do Sistema Nervoso Autônomo com a Mudança de Postura em Crianças e Adolescentes com Distrofia Muscular de Duchenne.

BACKGROUND: Duchenne Muscular Dystrophy (DMD) is a rare inherited neuromuscular disease. At first, cardiac involvement may be asymptomatic. Therefore, assessing patients using non-invasive methods can help detect any changes. OBJECTIVES: Analyze the electrocardiogram (ECG) test and heart rate variability (HRV) of the DMD group and compare the information with that of the age-matched control group. METHODS: A prospective study with 27 male patients with DMD (11.9 years old), who underwent clinical evaluation, ECG, echocardiogram, and Holter monitoring. ECG (200% increase) was assessed by two independent observers. HRV was measured over time (24 h) and in the frequency domain, in the supine and sitting positions. The healthy group consisted of nine patients (11.0 years old). A value of p < 0.05 was considered statistically significant. RESULTS: The mean ejection fraction (EF) was 60% (34 to 71%). The Kappa coefficient for ECG measurements ranged from 0.64 to 1.00. An increase in the R/S ratio in V1 was observed in 25.9% of the subjects, pathological Q wave in 29.6%, and fragmented QRS in 22.2% in inferior/high lateral regions, with a negative correlation with EF (p = 0.006). There was low HRV, without the influence of any variable, including treatment. With the change in position, there was an increase in HR (p = 0.004), but there was no change in HRV. The LF/HF ratio was 2.7 in the DMD group and 0.7 in the control group (p = 0.002). CONCLUSIONS: In DMD subjects, prominent R waves in V1 and changes in the inferior/high lateral regions occurred in almost 30% of the cases. Lower vagal tone was observed without the influence of the variables age, ejection fraction, QT dispersion, and treatment. Despite the increase in HR, there was no adequate HRV response to the change in position.

FUNDAMENTO: Distrofia Muscular de Duchenne (DMD) é uma doença neuromuscular hereditária rara. O acometimento cardíaco inicial pode ser assintomático. Portanto, a avaliação por métodos não invasivos pode auxiliar sua abordagem. OBJETIVOS: Analisar o eletrocardiograma (ECG) e a variabilidade da frequência cardíaca (VFC) do grupo com DMD, e comparar com a do grupo controle pareado por idade. MÉTODOS: Estudo prospectivo com 27 pacientes masculinos com DMD (idade de 11,9 anos) que foram submetidos à avaliação clínica, ECG, ecocardiograma e Holter. ECG (aumento de 200%) foi avaliado por dois observadores independentes. VFC foi feita no domínio do tempo (24 h) e da frequência na posição supina e sentada. O grupo saudável foi de nove pacientes (11,0 anos). Um valor de p < 0,05 foi considerado estatisticamente significante. RESULTADOS: A média da fração de ejeção (FE) foi de 60% (34 a 71%). O coeficiente de Kappa para as medidas do ECG variou de 0,64 a 1,00. Foram verificados aumento da relação R/S em V1 em 25,9%, onda Q patológica em 29,6% e QRS fragmentado em 22,2% em regiões inferior/lateral alta, este com correlação negativa com FE (p = 0,006). Houve baixa VFC, sem influência de nenhuma variável, inclusive tratamento. Com a mudança da posição, houve aumento da FC (p = 0,004), porém não houve alteração da VFC. A relação LF/HF foi de 2,7 na DMD e de 0,7 no controle (p = 0,002). CONCLUSÕES: Nos participantes com DMD, as ondas R proeminentes em V1 e alterações nas regiões inferior/lateral alta ocorreram em quase 30% dos casos. Houve menor tônus vagal sem influência das variáveis idade, fração de ejeção, dispersão do QT e tratamento. Apesar do aumento da FC, não houve resposta adequada da VFC com a mudança de posição.

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil.

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. RESULTS: There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0.0085), as well as between the myopathy and encephalomyopathy groups (p = 0.01). CONCLUSIONS: The translation of the NPMDS, and its adaptation to the socioeconomic and cultural conditions in Brazil, make the NPMDS score useful as an additional parameter in the evaluation and monitoring of pediatric patients with MD in Brazil.

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil / Escala Pediátrica de Doença Mitocondrial de Newcastle: tradução e adaptação cultural para uso no Brasil

ABSTRACT 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. Results There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0.0085), as well as between the myopathy and encephalomyopathy groups (p = 0.01). Conclusions The translation of the NPMDS, and its adaptation to the socioeconomic and cultural conditions in Brazil, make the NPMDS score useful as an additional parameter in the evaluation and monitoring of pediatric patients with MD in Brazil.

RESUMO Objetivo O objetivo do presente estudo foi realizar a tradução e adaptação da escala NPMDS para a população brasileira. Métodos A escala foi aplicada em 20 crianças e adolescentes com doença mitocondrial (DM) divididos em três grupos: miopatia (n=4), síndrome de Leigh (n=8) e encefalomiopatia (n=8). Obteve-se os escores separados das dimensões da escala NPMDS, foram realizadas comparações entre os escores da NPMDS nos diferentes grupos. Conclusão A tradução da escala NPMDS e sua adequação as condições socioeconômicas e culturais de nossa população tornam este instrumento um parâmetro adicional na avaliação e acompanhamento de pacientes pediátricos com DM.

Motor assessment in patients with Duchenne muscular dystrophy.

OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD) in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC), and application of the Motor Function Measure (MFM). The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04). In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006). Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

Motor assessment in patients with Duchenne muscular dystrophy / Avaliação motora em pacientes com distrofia muscular de Duchenne

OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD) in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC), and application of the Motor Function Measure (MFM). The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04). In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006). Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

OBJETIVO: Avaliar a força muscular e função motora em pacientes com distrofia muscular de Duchenne (DMD) em intervalo de seis meses. MÉTODO: Vinte crianças e adolescentes com diagnóstico de DMD foram avaliados quanto às seguintes medidas: força de flexores e extensores de ombro, cotovelo, punho, quadril, joelho e tornozelo, por meio do Medical Research Council (MRC) e aplicação da Medida da Função Motora (MFM). Os pacientes foram analisados em dois momentos, com intervalo de seis meses. RESULTADOS: Observou-se perda de força muscular identificada por meio da MRC para membros superiores proximais (t=-2,17, p=0,04). Na MFM, observou-se perda significativa na dimensão 1 (t=-3,06, p=0,006). Foram registradas correlações médias a fortes entre os escores de força muscular e as dimensões da MFM. CONCLUSÃO: A escala MFM mostrou ser um instrumento útil no acompanhamento dos pacientes com DMD. É uma escala funcional, o que a torna boa candidata para o acompanhamento de pacientes com DMD em uso de novas drogas.

Doenças neuromusculares e instrumentos úteis na avaliação motora em crianças e adolescentes / Neuromuscular diseases and usefull instruments in the motor evaluation of children and adolescents

As doenças neuromusculares acometem a unidade motora, podendo comprometer os neurônios do corno anterior da medula, as raízes nervosas e os nervos periféricos, a junção neuromuscular ou o músculo. Podem ser de origem genética ou adquirida. Na infância predominam as de origem genética, sendo as mais frequentes a distrofia muscular tipo Duchenne e a amiotrofia espinhal progressiva. Vários métodos e escalas foram propostos para a avaliação e acompanhamento aos pacientes com doenças neuromusculares, tais como a escala de força manual, conhecida como medical research counsil (MRC), a goniometria e escalas funcionais. Entre as escalas funcionais, destaca-se a escala medida da função motora (MFM), uma vez que ela pode ser utilizada em qualquer doença neuromuscular,é de fácil aplicação e de baixo custo. O presente estudo é uma revisão bibliográfica não sistemática sobre as doenças neuromusculares mais comuns na infância e os instrumentos de medida úteis na avaliação dos pacientes portadores dessas doenças...

The neuromuscular diseases affect the motor unit, and may compromise the neurons of the anterior horn of the spinal cord, the nerves’ roots and the peripheral nerves, the neuro muscular junction or the muscle. They can have genetic or acquired origin. The genetic origin diseases predominate in childhood, and the most frequent are the Duchenne muscular dystrophy and the spinal muscular atrophy. Several methods and scales were proposed for the assessment and monitoring of patients with neuromuscular diseases, such as the manual strength know as medical research council (MRC), the goniometry and the functional scales. Among the functional scales the motor function measure (MFM) is noteworthy, asit can be used in any neuromuscular disease, is easily applicable and has low cost. This study is a bibliographic review on the most common neuromuscular diseases in childhood and the useful measuring instruments for the assessment of patients with these diseases...