Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3.

BACKGROUND: Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL). OBJECTIVE: To evaluate the impact of a speech therapy rehabilitation program on the QOL of patients with SCA3. METHODS: All participants were randomly assigned to two groups, an intervention group receiving speech therapy (STG) and a control group (CG). The International Cooperative Ataxia Rating Scale scores were 32.4 ± 20.2, and the Scale for the Assessment and Rating of Ataxia scores were 11.8 ± 8.0. The intervention consisted of a 12-session speech therapy rehabilitation program with oral, pharyngeal, and laryngeal strengthening exercises-the so-called ATAXIA-Myofunctional Orofacial and Vocal Therapy (A-MOVT). They all were submitted to pre- and postintervention evaluations using the World Health Organization's Quality of Life (WHOQOL-BREF) assessment, as well as the Living with Dysarthria (LwD), Quality of Life in Swallowing Disorders (SWAL-QOL), and Food Assessment Tool (EAT-10). RESULTS: The study sample consisted of 48 patients with SCA3 (STG = 25; CG = 23), mean age was 47.1 ± 11.4 years; mean age at symptom onset was 36.9 ± 11.3 years; disease duration was 11.9 ± 13.3 years. After the 3-month intervention, there were significant changes in the QOL in the STG compared with the CG, when assessed by the LwD (179.12 ± 62.55 vs. 129.88 ± 51.42, p < 0.001), SWAL-QOL (869.43 ± 153.63 vs. 911.60 ± 130.90, p = 0.010), and EAT-10 (5.16 ± 7.55 vs. 2.08 ± 3.85, p = 0.018). CONCLUSIONS: Patients with SCA3 should receive continuous speech therapy as part of the A-MOVT program, because therapy helps to improve difficulty swallowing and dysarthria.

ANTECEDENTES: Indivíduos com ataxia espinocerebelar tipo 3 (AEC3) apresentam distúrbios da comunicação e deterioração da deglutição e, consequentemente, na qualidade de vida (QV). OBJETIVO: Avaliar o impacto de um programa de reabilitação fonoaudiológica na QV em pacientes com AEC3. MéTODOS: Todos os participantes foram alocados aleatoriamente em dois grupos, um grupo intervenção que recebeu terapia fonoaudiológica (GTF) e um grupo controle (GC). As pontuações das escalas: International Cooperative Ataxia Rating Scale (ICARS) foram 32,4 ± 20,2 e da Scale for the Assessment and Rating of Ataxia (SARA) foram 11,8 ± 8,0. A intervenção consistiu em um programa de reabilitação fonoaudiológica de 12 sessões composto por exercícios de fortalecimento oral, faríngeo e laríngeo - denominados ATAXIA - Terapia Miofuncional Orofacial e Vocal (A-TMOV). Todos foram submetidos a avaliações pré e pós-intervenção por meio dos protocolos World Health Organization's Quality of Life (WHOQOL-BREF), Vivendo com Disartria (VcD), Quality of Life in Swallowing Disorders (SWAL-QOL) e Food Assessment Tool (EAT-10). RESULTADOS: A amostra foi composta por 48 pacientes com AEC3 (25 no GTF e 23 no GC), média de idade 47,1 ± 11,4anos; média de idade de início dos sintomas 36,9 ± 11,3anos; duração da doença 11,9 ± 13,3anos. Após intervenção de três meses, houve mudanças significativas na QV no GTF em comparação com o GC quando avaliado pelo VcD (179,12 ± 62,55 versus129,88 ± 51,42, p < 0,001), SWAL-QOL (869,43 ± 153,63 versus 911,60 ± 130,90, p = 0,010), EAT-10 (5,16 ± 7,55 versus 2,08 ± 3,85, p = 0,018). CONCLUSõES: Pacientes com AEC3 devem receber terapia fonoaudiológica contínua como parte do programa A-TMOV, pois a terapia ajuda a melhorar a dificuldade de deglutição e a disartria.

Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3 / Efeito da terapia fonoaudiológica na qualidade de vida de pacientes com ataxia espinocerebelar tipo 3

Abstract Background Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL). Objective To evaluate the impact of a speech therapy rehabilitation program on the QOL of patients with SCA3. Methods All participants were randomly assigned to two groups, an intervention group receiving speech therapy (STG) and a control group (CG). The International Cooperative Ataxia Rating Scale scores were 32.4 ± 20.2, and the Scale for the Assessment and Rating of Ataxia scores were 11.8 ± 8.0. The intervention consisted of a 12-session speech therapy rehabilitation program with oral, pharyngeal, and laryngeal strengthening exercises—the so-called ATAXIA-Myofunctional Orofacial and Vocal Therapy (A-MOVT). They all were submitted to pre- and postintervention evaluations using the World Health Organization's Quality of Life (WHOQOL-BREF) assessment, as well as the Living with Dysarthria (LwD), Quality of Life in Swallowing Disorders (SWAL-QOL), and Food Assessment Tool (EAT-10). Results The study sample consisted of 48 patients with SCA3 (STG = 25; CG = 23), mean age was 47.1 ± 11.4 years; mean age at symptom onset was 36.9 ± 11.3 years; disease duration was 11.9 ± 13.3 years. After the 3-month intervention, there were significant changes in the QOL in the STG compared with the CG, when assessed by the LwD (179.12 ± 62.55 vs. 129.88 ± 51.42, p < 0.001), SWAL-QOL (869.43 ± 153.63 vs. 911.60 ± 130.90, p = 0.010), and EAT-10 (5.16 ± 7.55 vs. 2.08 ± 3.85, p = 0.018). Conclusions Patients with SCA3 should receive continuous speech therapy as part of the A-MOVT program, because therapy helps to improve difficulty swallowing and dysarthria.

Resumo Antecedentes Indivíduos com ataxia espinocerebelar tipo 3 (AEC3) apresentam distúrbios da comunicação e deterioração da deglutição e, consequentemente, na qualidade de vida (QV). Objetivo Avaliar o impacto de um programa de reabilitação fonoaudiológica na QV em pacientes com AEC3. Métodos Todos os participantes foram alocados aleatoriamente em dois grupos, um grupo intervenção que recebeu terapia fonoaudiológica (GTF) e um grupo controle (GC). As pontuações das escalas: International Cooperative Ataxia Rating Scale (ICARS) foram 32,4 ± 20,2 e da Scale for the Assessment and Rating of Ataxia (SARA) foram 11,8 ± 8,0. A intervenção consistiu em um programa de reabilitação fonoaudiológica de 12 sessões composto por exercícios de fortalecimento oral, faríngeo e laríngeo - denominados ATAXIA - Terapia Miofuncional Orofacial e Vocal (A-TMOV). Todos foram submetidos a avaliações pré e pós-intervenção por meio dos protocolos World Health Organization's Quality of Life (WHOQOL-BREF), Vivendo com Disartria (VcD), Quality of Life in Swallowing Disorders (SWAL-QOL) e Food Assessment Tool (EAT-10). Resultados A amostra foi composta por 48 pacientes com AEC3 (25 no GTF e 23 no GC), média de idade 47,1 ± 11,4anos; média de idade de início dos sintomas 36,9 ± 11,3anos; duração da doença 11,9 ± 13,3anos. Após intervenção de três meses, houve mudanças significativas na QV no GTF em comparação com o GC quando avaliado pelo VcD (179,12 ± 62,55 versus129,88 ± 51,42, p < 0,001), SWAL-QOL (869,43 ± 153,63 versus 911,60 ± 130,90, p = 0,010), EAT-10 (5,16 ± 7,55 versus 2,08 ± 3,85, p = 0,018). Conclusões Pacientes com AEC3 devem receber terapia fonoaudiológica contínua como parte do programa A-TMOV, pois a terapia ajuda a melhorar a dificuldade de deglutição e a disartria.

Relação entre a coordenação motora e a função executiva em adultos e idosos / Relación entre la coordinación motora y la función ejecutiva en adultos y ancianos / Relationship between motor coordination and executive function in adults and older adults

RESUMO A população idosa brasileira possui escolaridade relativamente baixa, quando comparada a outras populações. Na prática clínica, torna-se difícil decidir se alterações mais sutis, observadas nos testes de função executiva (FE) e coordenação motora de idosos, devem-se a um quadro neurológico inicial ou à baixa escolaridade. O objetivo do trabalho foi investigar: (1) possíveis diferenças na coordenação motora e FE de adultos e idosos com escolaridade alta e baixa; e (2) possíveis correlações entre coordenação motora e FE nessa amostra. Foram avaliados 75 indivíduos saudáveis, com idade entre 30 e 89 anos. A FE foi avaliada por meio do trail making test (TMT) e a coordenação motora foi avaliada com o teste de diadococinesia dos membros superiores, que consiste na alternância rápida entre supinação e pronação do antebraço (direito, esquerdo, de ambos os antebraços em fase, e ambos em antifase). A análise de variância investigou possíveis influências da idade e da escolaridade na FE e coordenação motora. O teste de correlação de Pearson investigou possíveis relações entre FE e diadococinesia. Idosos com escolaridade baixa foram significativamente mais lentos na parte B (cognitivo-motora) e no delta (cognitiva) do TMT. Todos os grupos foram mais lentos na condição antifase, sobretudo os idosos com escolaridade baixa. Encontramos apenas correlações fracas entre FE e coordenação motora. A idade e a escolaridade influenciaram na FE e na coordenação motora; porém, os testes de FE e coordenação motora não apresentaram correlação quando esses dois fatores foram corrigidos estatisticamente.

RESUMEN La población anciana brasileña tiene un bajo nivel educativo en comparación con otras poblaciones. En la práctica clínica es difícil decidir si las alteraciones más sutiles, observadas en pruebas de función ejecutiva (FE) y coordinación motora en ancianos, son provenientes de una condición neurológica inicial o de un bajo nivel educativo. El objetivo de este estudio fue examinar: (1) posibles diferencias en la coordinación motora y la FE de adultos y ancianos con altos y bajos niveles educativos; y (2) posibles correlaciones entre coordinación motora y FE en esta muestra. Se evaluaron a 75 individuos sanos, con edades entre 30 y 89 años. Para la FE se aplicó la Prueba de creación de senderos (TMT en inglés), y la coordinación motora se evaluó con la prueba de diadococinesia de miembros superiores, que consiste en una alternancia rápida entre supinación y pronación del antebrazo (derecho, izquierdo, ambos antebrazos en fase y ambos en antifase). El análisis de varianza analizó las posibles influencias de la edad y la educación en la FE y la coordinación motora. La prueba de correlación de Pearson evaluó las posibles relaciones entre FE y diadococinesia. Los ancianos con bajo nivel educativo fueron significativamente más lentos en la parte B (cognitivo-motora) y delta (cognitiva) de la TMT. Todos los grupos fueron más lentos en la condición antifase, especialmente los ancianos con bajo nivel educativo. Se encontró únicamente correlaciones débiles entre FE y coordinación motora. La edad y el nivel educativo influyeron en la FE y la coordinación motora; sin embargo, las pruebas de FE y de coordinación motora no mostraron correlación cuando estos dos factores fueron corregidos estadísticamente.

ABSTRACT Brazilian older adults present a relatively low schooling level when compared with other populations. In clinical practice, defining if more subtle alterations observed in executive function (EF) and motor coordination tests in older adults are due to an initial neurological condition or low schooling level is difficult. This study aimed to evaluate the possible differences in motor coordination and EF between adults and older adults with high and low schooling level as well as the possible correlations between motor coordination and EF in this sample. A total of 75 healthy individuals (aged from 30 to 89 years) were evaluated. EF was assessed by the trail making test (TMT) whereas motor coordination was assessed by the upper limb diadochokinetic test, which is the rapid alternation between supination and pronation of the forearms (right, left, both performing in-phase movements, and both performing anti-phase movements). Analysis of variance showed that age and schooling level possibly influenced EF and motor coordination. Possible relationships between EF and diadochokinesis were calculated by Pearson's correlation. Older adults with low schooling level were significantly slower on the TMT part B (cognitive and motor) and delta TMT (cognitive). All groups were slower performing the anti-phase movement, especially those with low schooling level. Results showed only weak correlations between EF and motor coordination. Age and schooling level influenced executive function and motor coordination. However, the EF and motor coordination tests presented no correlation when these two factors were statistically corrected.

Caracterização da força e da função muscular nas disferlinopatias em amostra brasileira / Characterization of muscle strength and function in dysferlinopathy in a Brazilian sample

Estudo de caracterização da força e da função muscular nas disferlinopatias para estabelecer biomarcadores de habilidades motoras com amostra de 40 pacientes, tendo sido avaliados força muscular (Medical Research Council - MRC), percentual de MRC, tempo de execução para deambular e escores nas Escalas de Vignos, Egen Klassifikation, Avaliação Funcional para Distrofia Muscular de Duchenne (FES-DMD) e North Star Ambulatory Assessment adaptada. Prevalência da disferlinopatia de 25,5% na amostra total de distrofias (1340), idade média de 36,5 anos, 52,5% do sexo masculino e 75% deambuladores. Músculos mais fracos: abdominal, glúteos, íliopsoas, isquiotibial, quadríceps femoral, tibial anterior e deltoide médio. Correlação forte entre MRC e tempo para deambular (r = 0,77) e, muito forte da MRC distal de membros inferiores com aNSAA (r = 0,90). Interação da MRC dos membros superiores e inferiores nos segmentos proximal e distal (p < 0,001), sendo mais evidente em membros superiores que inferiores. Taxa variável de progressão da doença com 60% dos pacientes moderadamente ou gravemente afetados, com mais de 12 anos de doença. Estudo mostra que padrão de fraqueza muscular dos brasileiros com disferlinopatia é proximal e distal dos MMII, com comprometimento associado da região proximal dos MMSS, além de elucidar as habilidades motoras em relação ao processo de locomoção e disfunções cardiorrespiratórias. (AU).

Translation and cross-cultural adaptation to Brazilian Portuguese of the Modified Tardieu Scale for muscle tone assessment among patients with spinal cord injury.

BACKGROUND: Assessment of muscle tone is of great importance for evaluating people with spinal injuries. OBJECTIVE: To translate and adapt the Modified Tardieu Scale (MTS) to Brazilian Portuguese and validate its use for evaluating patients with spinal cord injury. METHODS: The translation and adaptation of the "Escala de Tardieu Modificada" went through the steps of translation, translation synthesis, back-translation and expert committee meeting. Two evaluators rated the tone of the elbow flexors/extensors, wrist extensors, knee flexors/extensors and ankle plantar flexors of 51 patients with spinal cord injury. These patients were reevaluated after one week. Validation included intra and inter-rater reliability (ICC) and internal and external consistency. The Modified Ashworth Scale (MAS) was used in the evaluations, to investigate the correlations. RESULTS: The Brazilian Portuguese version of the MTS is presented in this study. ICCs ranged from 0.60 to 0.99 (intra and inter-examiner) and there was a moderate to strong correlation with MAS. CONCLUSIONS: The MTS proved to be adequate for assessing the muscle tone of people with spinal cord injury in Brazil.

Effects of resistance training on postural control in Parkinson's disease: a randomized controlled trial.

BACKGROUND: Postural instability affects Parkinson's disease (PD) patients' postural control right from the early stages of the disease. The benefits of resistance training (RT) for balance and functional capacity have been described in the literature, but few studies have been conducted showing its effects on PD patients' postural control. OBJECTIVE: To investigate the effects of a three-month RT intervention on static posturography (SP) measurements and clinical functional balance assessment among PD patients. METHODS: Seventy-four patients were randomly assigned to a three-month RT intervention consisting of using weightlifting machines at a gym (gym group) or RT consisting of using free weights and elastic bands (freew group), or to a control group. The participants were evaluated at baseline, three months and six months. We evaluated changes of SP measurements under eyes-open, eyes-closed and dual-task conditions (primary endpoint), along with motor performance and balance effects by means of clinical scales, dynamic posturography and perceptions of quality of life (secondary endpoints). RESULTS: There were no significant interactions in SP measurements among the groups. Unified Parkinson Disease Rating Scale (UPDRS-III) motor scores decreased in both RT groups (p<0.05). Better perceived quality of life for the mobility domain was reported in the gym group while functional balance scores improved in the freew group, which were maintained at the six-month follow-up (p<0.05). CONCLUSIONS: This study was not able to detect changes in SP measurements following a three-month RT intervention. Both RT groups of PD patients showed improved motor performance, with positive balance effects in the freew group and better perceived quality of life in the gym group.

Effects of resistance training on postural control in Parkinson's disease: a randomized controlled trial / Efeitos de um treinamento de resistência muscular no controle postural em indivíduos com doença de Parkinson: um estudo aleatorizado controlado

ABSTRACT Background: Postural instability affects Parkinson's disease (PD) patients' postural control right from the early stages of the disease. The benefits of resistance training (RT) for balance and functional capacity have been described in the literature, but few studies have been conducted showing its effects on PD patients' postural control. Objective: To investigate the effects of a three-month RT intervention on static posturography (SP) measurements and clinical functional balance assessment among PD patients. Methods: Seventy-four patients were randomly assigned to a three-month RT intervention consisting of using weightlifting machines at a gym (gym group) or RT consisting of using free weights and elastic bands (freew group), or to a control group. The participants were evaluated at baseline, three months and six months. We evaluated changes of SP measurements under eyes-open, eyes-closed and dual-task conditions (primary endpoint), along with motor performance and balance effects by means of clinical scales, dynamic posturography and perceptions of quality of life (secondary endpoints). Results: There were no significant interactions in SP measurements among the groups. Unified Parkinson Disease Rating Scale (UPDRS-III) motor scores decreased in both RT groups (p<0.05). Better perceived quality of life for the mobility domain was reported in the gym group while functional balance scores improved in the freew group, which were maintained at the six-month follow-up (p<0.05). Conclusions: This study was not able to detect changes in SP measurements following a three-month RT intervention. Both RT groups of PD patients showed improved motor performance, with positive balance effects in the freew group and better perceived quality of life in the gym group.

RESUMO Introdução: A instabilidade postural afeta o controle postural desde os estágios iniciais da doença de Parkinson (DP). A literatura descreve benefícios do programa de fortalecimento muscular no equilíbrio, na capacidade funcional, porém poucos estudos investigaram seus efeitos no controle postural na DP. Objetivo: Investigar os efeitos de um programa de três meses de fortalecimento nas medidas da posturografia estática (PE) e nos testes clínicos na DP. Métodos: Participaram do ensaio aleatório controlado 74 pacientes, designados em um dos seguintes grupos: fortalecimento utilizando aparelhos de musculação (gmusc); fortalecimento com pesos livres e elásticos (gpeso); e grupo controle. As avaliações ocorreram antes da intervenção, 3 e 6 meses após intervenção. Foram avaliados alterações nas medidas da PE nas condições de olhos abertos, olhos fechados e dupla tarefa (desfecho primário), efeitos sobre sintomas motores, equilíbrio por meio de escalas clínicas, posturografia dinâmica e percepção da qualidade de vida (desfechos secundários). Resultados: Não houve interações significativas nas medidas da PE entre os grupos. As pontuações motoras da Escala Unificada de Avaliação da Doença de Parkinson (UPDRS-III) diminuíram em ambos os grupos de fortalecimento (p<0,05). Houve melhora da percepção da qualidade de vida para o domínio mobilidade no gmusc, assim como ganhos nas pontuações dos testes funcionais no gpeso, mantido no seguimento após seis meses (p<0,05). Conclusões: O programa de fortalecimento não altera o controle postural medida pela PE. Apesar disso, ambos os grupos de fortalecimento apresentaram melhor desempenho motor, efeitos positivos a médio prazo no equilíbrio no gpeso e melhor desempenho na qualidade de vida no gmusc.

Versão brasileira do Preschool-age Childrens Physical Activity Questionnaire (Pre-PAQ) / Versión brasileña del Preschool-age Childrens Physical Activity Questionnaire (Pre-PAQ) / Brazilian version of the Preschool-age Childrens Physical Activity Questionnaire (Pre-PAQ)

RESUMO Foi realizada a tradução e a adaptação transcultural do Preschool-age Children's Physical Activity Questionnaire para a língua portuguesa do Brasil. O questionário foi traduzido em duas versões diferentes por dois profissionais proficientes na língua inglesa. Baseada nessas duas traduções independentes, foi criada a tradução única, então retrotraduzida para o inglês por outros dois tradutores. As retrotraduções passaram por novo processo de consenso, que gerou uma versão única, que foi comparada com o questionário em inglês original. A versão do questionário em português do Brasil, denominada Questionário de Atividade Física de Crianças em Idade Pré-Escolar (Pre-PAQ), foi revisada por uma comissão de especialistas para verificação do conteúdo e gerou a segunda versão de concordância. Em seguida, 28 profissionais da área avaliaram o questionário quanto à adequação para a língua portuguesa do Brasil e à adaptação cultural para crianças brasileiras de 3 a 5 anos de idade. Conclui-se que as etapas de tradução e adaptação cultural foram concluídas com sucesso, ainda que futuros estudos para testar a confiabilidade e validade do conteúdo da versão brasileira do Pre-PAQ sejam necessários para garantir a acurácia da aplicação na população-alvo.

RESUMEN Se ha realizado una traducción y adaptación transcultural del Preschool-age Children's Physical Activity Questionnaire al idioma portugués de Brasil. El cuestionario fue traducido por dos profesionales con dominio del inglés para dos versiones diferentes. Sobre la base de estas dos traducciones independientes, se creó una única traducción, que luego se volvió a traducir al inglés por otros dos traductores. Las retrotraducciones pasaron por un nuevo proceso de consenso, lo cual generó una única versión para comparar con el cuestionario original en inglés. La versión del cuestionario al portugués brasileño, llamada Questionário de Atividade Física de Crianças em Idade Pré-Escolar (Pre-PAQ), fue revisada por un comité de expertos para verificar el contenido y generó la segunda versión del acuerdo. Luego, 28 profesionales en el campo evaluaron el cuestionario en cuanto a la idoneidad para el portugués brasileño y la adaptación cultural para niños brasileños de 3 a 5 años. Se concluye que las etapas de traducción y adaptación cultural fueron exitosas, aunque son necesarios futuros estudios para probar la confiabilidad y validez de contenido a la versión brasileña del Pre-PAQ para asegurar la precisión de la aplicación en la población objetivo.

ABSTRACT The translation and cross-cultural adaptation of the Preschool-age Children's Physical Activity Questionnaire into Brazilian Portuguese was carried out. The questionnaire was translated into two different versions by two professionals proficient in the English language. Based on these two independent translations, a single translation was created, which was then back translated into English by two other translators. The back-translations went through a new consensus process, which generated a single version, that was compared with the original English questionnaire. The Brazilian Portuguese version of the questionnaire, called "Questionário de Atividade Física de Crianças em Idade Pré-Escolar (Pre-PAQ)", was reviewed by a committee of experts to verify the content and generated the second version of accordance. Then, 28 professionals in the field evaluated the questionnaire regarding the suitability for the Brazilian Portuguese language and the cultural adaptation for Brazilian children from 3 to 5 years old. It is concluded that the stages of translation and cultural adaptation were successfully concluded, although future studies to test the content reliability and validity of the Pre-PAQ's Brazilian version are necessary to ensure the application accuracy in the target population.

Balance as an Additional Effect of Strength and Flexibility Aquatic Training in Sedentary Lifestyle Elderly Women.

OBJECTIVE: To evaluate the additional effects of on balance an aquatic muscle strengthening and flexibility training program in healthy sedentary lifestyle elderly women. METHOD: This controlled clinical trial included 56 healthy sedentary women, aged from 65 to 70 years, divided into two groups. The aquatic group (AG) underwent aquatic training (45 minutes/session, 32 sessions), and the control group (CG) received no intervention. Data were collected pre- and post-intervention, during a one-week period. Lower limb muscle strength was measured by a force sensor (myometer). Flexibility was measured by biophotogrammetry. Functional balance was evaluated by the Performance Oriented Mobility Assessment (POMA) and the Berg Balance Scale (BBS). RESULTS: Muscle strength, flexibility, and balance improved in AG (p < 0.001), but not in CG. CONCLUSION: The aquatic exercises program, which was originally developed to promote muscle strength and flexibility, also improved functional balance. Aquatic training is an option for physical health promotion for sedentary lifestyle elderly women.

Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy / Desempenho funcional e força muscular em portadoras sintomáticas de distrofia muscular de Duchenne

Abstract Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies. Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance. Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations. Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

Resumo A distrofia muscular de Duchenne (DMD) geralmente afeta indivíduos do sexo masculino. No entanto, mulheres também são acometidas em casos raros. Aproximadamente 8% das portadoras de DMD têm fraqueza muscular ou cardiomiopatia. A identificação precoce das alterações funcionais e motoras pode alterar a tomada de decisão clínica. Objetivo: Investigar as deficiências motoras e funcionais de 10 pacientes do sexo feminino com distrofinopatia diagnosticada por estudos clínicos, patológicos, genéticos e imuno-histoquímicos. Método: Estudo descritivo de uma amostra de portadoras sintomáticas de mutações DMD. As variáveis estudadas foram força muscular e desempenho funcional. Resultados: A prevalência foi de 10/118 (8,4%) de portadoras sintomáticas de DMD. Foram encontradas deleções em sete pacientes. A idade de início dos sintomas em portadoras de DMD foi variável. Pseudo-hipertrofia de panturrilhas, movimentos compensatórios, fraqueza muscular e aumento no tempo de execução de tarefas funcionais foram observados na maioria dos casos. Diferentemente dos homens com DMD, sete pacientes apresentaram fraqueza muscular assimétrica. A apresentação assimétrica da fraqueza muscular foi frequente, podendo afetar a postura e a funcionalidade. O desempenho funcional geralmente apresenta aumento no número de movimentos compensatórios. Não podemos sempre considerar o tempo como um bom marcador de funcionalidade para essa população, uma vez que não muda na mesma proporção que o número de compensações em todas essas pacientes. Conclusão: Fraqueza muscular assimétrica e movimentos compensatórios, ou ambos, podem ser encontrados em portadoras sintomáticas de DMD, o que pode afetar a postura e a funcionalidade dessas pacientes.

Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. OBJECTIVE: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies. METHODS: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance. RESULTS: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations. CONCLUSION: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

Timed immersion expiration measures in patients with muscular dystrophies.

INTRODUCTION: Muscular dystrophies (MD) cause muscle weakness, affecting motor and respiratory functions. Aquatic activities maintain strength and ventilatory function and may require immersion expiration control. OBJECTIVES: (1) To describe the evolution of timed immersion expiration in patients with MD in one-year follow-up. (2) to describe motor and respiratory outcomes in one-year follow-up. (3) to investigate possible relationships between timed immersion expiration and age, motor and respiratory functions. METHOD: Fifty-seven patients with MD (12-35 years, Vignos scale 2-8) were evaluated twice, with one-year interval. Immersion expiration control was timed with a chronometer. Motor function was assessed by Motor Function Measure. The respiratory function was evaluated by spirometry. Analysis of variance compared assessments and Pearson tests investigated relationships between variables and age. RESULTS: Motor and respiratory functions decreased (p < 0.001) but timed immersion expiration was maintained. Timed immersion expiration was not correlated to motor and respiratory functions. CONCLUSION: As patients maintained timed immersion expiration in the one-year follow-up, aquatic therapy might be a facilitator for people with MD.

Cognitive performance of children with spinal muscular atrophy: A systematic review.

Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant. OBJECTIVE: To evaluate the evidence about cognitive outcomes in spinal muscular atrophy (SMA). METHODS: Searches on the PUBMED/Medline, Web of Knowledge and Scielo databases retrieved 26 studies (1989 to 2019, descriptors "spinal muscular atrophy" and "cognition"). Nine studies were selected according to the eligibility criteria: (1) cognition tested in individuals with SMA; (2) written in English or Spanish. The Risk of Bias in Non-Randomized Studies of Interventions was used to describe design, bias, participants, evaluation protocol and main findings. This study was registered on the International prospective register of systematic reviews (PROSPERO). RESULTS: Three studies described normal cognition. In another three studies, cognitive outcomes were above average. Cognitive impairment was found in three studies. Poor cognitive performance was more frequently reported in studies that were recent, included children with SMA type I and that employed visual/auditory attention and executive function tests. Protocols and cognitive domains varied, precluding metanalysis. CONCLUSION: The severity of motor impairment may be related to cognitive outcomes: studies that included a higher number/percentage of children with SMA type I found cognitive impairment. The establishment of gold-standard protocols is necessary. Further studies should compare the cognitive outcomes of subjects with SMA types I to IV.

A atrofia muscular espinhal (SMA) é genética e progressiva, causada por grandes deleções bi-alélicas no gene SMN1, ou pela associação de uma grande deleção e uma variante nula. OBJETIVO: Avaliar as evidências sobre o desempenho cognitivo na atrofia muscular espinhal (AME). MÉTODOS: Pesquisas nas bases de dados PUBMED/ Medline, Web of Knowledge e Scielo localizaram 26 estudos (1989 a 2019, descritores "atrofia muscular espinhal" e "cognição"). Nove estudos foram selecionados de acordo com os critérios de elegibilidade: (1) testaram a cognição em pessoas com AME; (2) escritos em inglês/espanhol. A avaliação do risco de viés em estudos com intervenções não-randomizadas foi utilizada para descrever o desenho experimental, viés, amostra, protocolo de avaliação e principais achados. Este estudo foi aprovado no Registro Internacional Prospectivo de Revisões Sistemáticas (PROSPERO). RESULTADOS: Em três estudos, foi registrado que a cognição estava preservada. Em três estudos, o desempenho cognitivo estava acima da média. O comprometimento cognitivo foi encontrado em três estudos. Desempenho cognitivo pobre foi mais frequentemente relatado em estudos recentes, estudos que incluíram crianças com AME tipo I e estudos que incluíram atenção visual/auditiva e testes de função executiva. Protocolos e domínios cognitivos variaram muito, portanto não foi possível a realização de metanálise. CONCLUSÃO: A gravidade do comprometimento motor pode estar relacionada ao desempenho cognitivo: estudos que incluíram maior número/porcentagem de crianças com AME tipo I encontraram alterações no desempenho cognitivo. O estabelecimento de protocolos padrão-ouro é necessário. Novos estudos devem comparar o desempenho cognitivo de pessoas com AME tipos I a IV, ou seja, com diferenças no prognóstico e no desempenho motor.

Cognitive performance of children with spinal muscular atrophy: A systematic review / Desempenho cognitivo de crianças com atrofia muscular espinhal: uma revisão sistemática

ABSTRACT Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant. Objective: To evaluate the evidence about cognitive outcomes in spinal muscular atrophy (SMA). Methods: Searches on the PUBMED/Medline, Web of Knowledge and Scielo databases retrieved 26 studies (1989 to 2019, descriptors "spinal muscular atrophy" and "cognition"). Nine studies were selected according to the eligibility criteria: (1) cognition tested in individuals with SMA; (2) written in English or Spanish. The Risk of Bias in Non-Randomized Studies of Interventions was used to describe design, bias, participants, evaluation protocol and main findings. This study was registered on the International prospective register of systematic reviews (PROSPERO). Results: Three studies described normal cognition. In another three studies, cognitive outcomes were above average. Cognitive impairment was found in three studies. Poor cognitive performance was more frequently reported in studies that were recent, included children with SMA type I and that employed visual/auditory attention and executive function tests. Protocols and cognitive domains varied, precluding metanalysis. Conclusion: The severity of motor impairment may be related to cognitive outcomes: studies that included a higher number/percentage of children with SMA type I found cognitive impairment. The establishment of gold-standard protocols is necessary. Further studies should compare the cognitive outcomes of subjects with SMA types I to IV.

RESUMO A atrofia muscular espinhal (SMA) é genética e progressiva, causada por grandes deleções bi-alélicas no gene SMN1, ou pela associação de uma grande deleção e uma variante nula. Objetivo: Avaliar as evidências sobre o desempenho cognitivo na atrofia muscular espinhal (AME). Métodos: Pesquisas nas bases de dados PUBMED/ Medline, Web of Knowledge e Scielo localizaram 26 estudos (1989 a 2019, descritores "atrofia muscular espinhal" e "cognição"). Nove estudos foram selecionados de acordo com os critérios de elegibilidade: (1) testaram a cognição em pessoas com AME; (2) escritos em inglês/espanhol. A avaliação do risco de viés em estudos com intervenções não-randomizadas foi utilizada para descrever o desenho experimental, viés, amostra, protocolo de avaliação e principais achados. Este estudo foi aprovado no Registro Internacional Prospectivo de Revisões Sistemáticas (PROSPERO). Resultados: Em três estudos, foi registrado que a cognição estava preservada. Em três estudos, o desempenho cognitivo estava acima da média. O comprometimento cognitivo foi encontrado em três estudos. Desempenho cognitivo pobre foi mais frequentemente relatado em estudos recentes, estudos que incluíram crianças com AME tipo I e estudos que incluíram atenção visual/auditiva e testes de função executiva. Protocolos e domínios cognitivos variaram muito, portanto não foi possível a realização de metanálise. Conclusão: A gravidade do comprometimento motor pode estar relacionada ao desempenho cognitivo: estudos que incluíram maior número/porcentagem de crianças com AME tipo I encontraram alterações no desempenho cognitivo. O estabelecimento de protocolos padrão-ouro é necessário. Novos estudos devem comparar o desempenho cognitivo de pessoas com AME tipos I a IV, ou seja, com diferenças no prognóstico e no desempenho motor.

Is virtual reality beneficial for dual-task gait training in patients with Parkinson's disease? A systematic review.

This systematic review examined the evidence about the effects of virtual reality (VR) on dual-task gait training in Parkinson's disease (PD). METHODS: this study (PROSPERO registration CRD42019114736) aimed to answer the question: "Is VR beneficial for dual-task gait training in patients with PD?" We searched for studies from 2008 to 2018 on Medline/PubMed and Web of Science/Web of knowledge databases. The keywords were Parkinson AND gait training AND virtual reality OR Parkinson AND gait training AND game. A total of 55 articles were retrieved, of which 11 systematic reviews, 11 opinions, letters to the editor, posters or conferences abstracts and 17 studies not evaluating the effects of VR gait training were excluded. Three further studies addressing VR dual-task gait training in PD (found in references of studies selected) were also included. Therefore, 19 studies were included and analysed. RESULTS: all studies reported gait improvement after VR training. Many clinical scales were used, hampering comparison of the effects of each protocol. CONCLUSION: VR dual-task gait training should be part of rehabilitation protocols for PD. The studies showed that VR training was effective, although specific guidelines have not yet been established.

Essa revisão sistemática examinou as evidências sobre os efeitos da realidade virtual (RV) no treinamento de marcha com tarefa-dupla na doença de Parkinson (DP). MÉTODOS: esse estudo (registro PROSPERO: CRD42019114736) visou responder à questão: "A RV é benéfica no treinamento de marcha com tarefa-dupla em pacientes com DP?" A busca, de 2008 a 2018, foi feita nos bancos de dados Medline/PubMed e Web of Science/Web of Knowledge. Os descritores foram Parkinson, treinamento de marcha, realidade virtual e jogos eletrônicos. Foram encontrados 55 artigos e eliminadas 11 revisões sistemáticas, 11 cartas ao editor, resumos de pôsteres ou conferências e 17 estudos que não avaliaram os efeitos do treinamento da marcha em RV. Três outros estudos (encontrados nas referências dos estudos selecionados) foram incluídos porque também abordaram o treinamento de marcha com dupla tarefa de RV em DP. Portanto, 19 estudos foram incluídos e analisados. RESULTADOS: todos os estudos relataram melhora da marcha após o treinamento com RV. Muitas escalas clínicas foram usadas e foi difícil comparar os efeitos de cada protocolo. CONCLUSÃO: RV deve fazer parte dos protocolos de reabilitação em DP. O treinamento com RV é eficaz, embora recomendações específicas ainda não tenham sido estabelecidas.

Is virtual reality beneficial for dual-task gait training in patients with Parkinson's disease? A systematic review / A realidade virtual é benéfica para o treino de marcha com tarefa dupla em pacientes com doença de parkinson? revisão sistemática

ABSTRACT This systematic review examined the evidence about the effects of virtual reality (VR) on dual-task gait training in Parkinson's disease (PD). Methods: this study (PROSPERO registration CRD42019114736) aimed to answer the question: "Is VR beneficial for dual-task gait training in patients with PD?" We searched for studies from 2008 to 2018 on Medline/PubMed and Web of Science/Web of knowledge databases. The keywords were Parkinson AND gait training AND virtual reality OR Parkinson AND gait training AND game. A total of 55 articles were retrieved, of which 11 systematic reviews, 11 opinions, letters to the editor, posters or conferences abstracts and 17 studies not evaluating the effects of VR gait training were excluded. Three further studies addressing VR dual-task gait training in PD (found in references of studies selected) were also included. Therefore, 19 studies were included and analysed. Results: all studies reported gait improvement after VR training. Many clinical scales were used, hampering comparison of the effects of each protocol. Conclusion: VR dual-task gait training should be part of rehabilitation protocols for PD. The studies showed that VR training was effective, although specific guidelines have not yet been established.

RESUMO Essa revisão sistemática examinou as evidências sobre os efeitos da realidade virtual (RV) no treinamento de marcha com tarefa-dupla na doença de Parkinson (DP). Métodos: esse estudo (registro PROSPERO: CRD42019114736) visou responder à questão: "A RV é benéfica no treinamento de marcha com tarefa-dupla em pacientes com DP?" A busca, de 2008 a 2018, foi feita nos bancos de dados Medline/PubMed e Web of Science/Web of Knowledge. Os descritores foram Parkinson, treinamento de marcha, realidade virtual e jogos eletrônicos. Foram encontrados 55 artigos e eliminadas 11 revisões sistemáticas, 11 cartas ao editor, resumos de pôsteres ou conferências e 17 estudos que não avaliaram os efeitos do treinamento da marcha em RV. Três outros estudos (encontrados nas referências dos estudos selecionados) foram incluídos porque também abordaram o treinamento de marcha com dupla tarefa de RV em DP. Portanto, 19 estudos foram incluídos e analisados. Resultados: todos os estudos relataram melhora da marcha após o treinamento com RV. Muitas escalas clínicas foram usadas e foi difícil comparar os efeitos de cada protocolo. Conclusão: RV deve fazer parte dos protocolos de reabilitação em DP. O treinamento com RV é eficaz, embora recomendações específicas ainda não tenham sido estabelecidas.

Mudança na biomecânica da postura sentada afeta a função pulmonar / Alteración en la biomecánica de la postura sentada afecta la función pulmonar / Change in biomechanics of sitting posture affects the pulmonary function

RESUMO Este trabalho teve como objetivo caracterizar as posturas induzidas por dois sistemas diferentes de cadeira-mesa e analisar seus efeitos na função pulmonar. Trata-se de estudo transversal, descritivo, do tipo sujeito único e intrasséries (A-B, B-A), com coleta em dias consecutivos. Participaram da pesquisa 15 voluntárias e foram utilizados dois sistemas cadeira-mesa: convencional (A) e experimental (B). A postura foi avaliada por meio de fotogrametria em cada um dos sistemas, com imagens analisadas por meio do programa AutoCAD® 2010. Posteriormente, foram calculados os ângulos articulares da postura média das participantes em cada sistema. Os dados posturais e respiratórios foram comparados considerando as diferentes posições adotadas. O sistema cadeira-mesa convencional promoveu dois diferentes padrões posturais: um deles apresentou ângulos articulares similares aos do sistema experimental, com resultados de espirometria semelhantes, e o outro padrão apresentou ângulos corporais de acordo com os padrões esperados com valores de espirometria significativamente inferiores em VEF1, VEF1/CVF e FEFmáx. O sistema experimental diferiu de valores de espirometria da postura ortostática relatados na literatura somente em FEFmáx, sugerindo similaridade de condição postural. Conclui-se que o mobiliário experimental melhorou a função respiratória na postura sentada em comparação com o mobiliário tradicional, podendo beneficiar pessoas em condições especiais, como gestantes, obesos e pessoas com doenças pulmonares crônicas.

RESUMEN Este estudio tuvo como objetivo caracterizar las posturas inducidas por dos sistemas diferentes de silla-mesa y analizar sus efectos sobre la función pulmonar. Se trata de un estudio transversal, descriptivo, de tipo de un solo sujeto e intraseries (A-B, B-A), con recolección en días consecutivos. Quince voluntarios participaron en el estudio, y se utilizaron dos sistemas de silla-mesa: convencional (A) y experimental (B). La evaluación postural se realizó mediante fotogrametría en cada uno de los sistemas, con imágenes analizadas por medio del programa AutoCAD® 2010. Posteriormente, se calcularon los ángulos de articulación de la postura media de las participantes en cada sistema. Los datos posturales y respiratorios se compararon considerando las diferentes posiciones adoptadas. El sistema de silla-mesa convencional promovió dos patrones posturales diferentes: uno presentó ángulos de articulación similares al sistema experimental, con resultados de espirometría similares, y el otro estándar presentó ángulos corporales de acuerdo con los patrones esperados con resultados de espirometría significativamente más bajos en VEF1, VEF1/CVF y FEFmax. El sistema experimental difería de los valores de espirometría de la postura ortostática informados en la literatura solo en FEFmax, lo que sugiere una similitud de la condición postural. Se concluyó que los muebles experimentales pueden mejorar la función respiratoria en la posición sentada cuando se comparaban con los muebles tradicionales, y pueden beneficiar a personas en condiciones especiales, como mujeres embarazadas, personas obesas y personas con enfermedades pulmonares crónicas.

ABSTRACT The objective of this study was to characterize the postures induced by two different chair-desk systems and analyze their effects on lung function. This was a cross-sectional, descriptive study of single subject with intra-series type analysis (A-B, B-A) during consecutive days of data collection. Fifteen volunteers participated using two chair-desk systems: conventional (A) and experimental (B). Postural evaluation was performed in both systems using photogrammetry. These images were analyzed using AutoCAD® 2010, estimating the average position of the joint angles of individuals in each system. These values were analyzed verifying the averages in each posture. Postural and respiratory data were compared by checking whether the different positions adopted by the participants resulted in changes in the spirometry values. Conventional chair-desk system promoted two different postural patterns, considering that one presented joint angles similar to experimental system, with similar spirometry results and the other presented body angles according to the reference of standards and spirometry results significantly lower in FEV1, FEV1/FVC and FEFmax. Experimental system differed from values of literature in standing posture only in FEFmax, suggesting similarity of postural situation. It was concluded that the experimental furniture proved a tool capable of benefiting respiratory function in sitting posture and may be an option to benefit people in special conditions such as pregnant women, obese individuals and people with chronic pulmonary diseases.

Responsiveness of the Gait Domain of the Functional Evaluation Scale for Children with Duchenne Muscular Dystrophy.

AIM: To determine the responsiveness of functional gait assessment of children with Duchenne muscular dystrophy (DMD). METHOD: A total of 160 films of 32 children (mean age: 9.5 ± 2.7) with DMD were scored by the gait domain of the Functional Evaluation Scale - DMD. Children were recorded every 3 months for 1 year (0, 3, 6, 9, and 12 months). Responsiveness was analyzed by the effect sizes (ES) and standardized response means (SRM). RESULTS: Responsiveness was low to moderate at the 3-month interval (ES 0.12 to 0.34; SRM 0.27 to 0.80); low to high at the 6-month interval (ES 0.36 to 0.72; SRM 0.37 to 1.10); moderate to high at the 9-month interval (ES 0.70 to 1.0; SRM 0.50 to 1.43), and it was high at the 12-month interval (ES 0.74 to 1.34; SRM 0.88 to 1.53). CONCLUSION: Functional gait assessment of children with DMD was responsive since 3-month intervals. Responsiveness increased as reassessment intervals got longer. The highest responsiveness was observed when children were reevaluated after 12 months. The use of the gait domain of the Functional Evaluation Scale - DMD is recommended in 6- to 12-month intervals, which showed moderate to high responsiveness.

Relationship Between Posturography, Clinical Balance and Executive Function in Parkinson´s Disease.

This study aimed to evaluate the relationship between posturography, clinical balance, and executive function tests in Parkinson´s disease (PD). Seventy-one people participated in the study. Static posturography evaluated the center of pressure fluctuations in quiet standing and dynamic posturography assessed sit-to-stand, tandem walk, and step over an obstacle. Functional balance was evaluated by Berg Balance Scale, MiniBESTest, and Timed Up and Go test. Executive function was assessed by Trail Making Test (TMT) and semantic verbal fluency test. Step over obstacle measures (percentage of body weight transfer and movement time) were moderately correlated to Timed Up and Go, part B of TMT and semantic verbal fluency (r > 0.40; p < 0.05 in all relationships). Stepping over an obstacle assesses the responses to internal perturbations. Participants with shorter movement times and higher percentage of body weight transfer (higher lift up index) on this task were also faster in Timed Up and Go, part B of TMT, and semantic verbal fluency. All these tasks require executive function (problem solving, sequencing, shifting attention), which is affected by PD and contribute to postural assessment.