Boys With Duchenne Muscular Dystrophy: 1-Year Locomotor Changes in Relation to a Control Group.

We compared the timed performance and compensatory movements of 32 boys (mean age = 10.0 years) with Duchenne muscular dystrophy (DMD) and 38 healthy boys (mean age = 9.2 years) on 10 -meter walking and four-step stair work (climbing and descending). Dependent measures were digital scores on the Functional Evaluation Scale for DMD obtained by watching the boys on film. Groups were compared initially and after 6 and 12 months, using General Linear Models analysis (for two groups and three assessments). Results showed no significant timed performance differences between groups on 10 -m walking at the initial assessment; but boys with DMD showed longer times after 6 and 12 months, and boys with DMD engaged in more compensatory movements while walking. For stair climbing, boys with DMD were significantly slower than healthy controls when both climbing and descending steps in all assessments.

Development of a new haptic perception instrument: a pilot study.

OBJECTIVE: Hand sensory tests do not consider distinct physiological receptors, nor detect normal range variations concerning developmental or pathological changes. We developed an instrument with a set of tests with timing and scoring for assessing haptic perception, which is the interaction between sensory and motor systems, in surfaces exploration, by moving hands. METHOD: Firstly, group meetings were set for test/manual conception and materials testing. The test/manual were submitted to 30 reviewers in 3 stages (10 reviewers on each stage). RESULTS: The Hand Haptic Perception Instrument (HHPI) evaluates hand sensorimotor performance on six domains: depression, elevation, texture, compressibility, weight (barognosis) and form perception. Each domain requires specific materials. Score ranges from 0 to 57, being 0 the worst rating. CONCLUSION: This methodological process allowed the development of six domains and instructions to assess haptic perception. This version of HHPI is a pilot model. Further studies will determine reliability and normality ranges.

Responsiveness of the domain climbing up and going down stairs of the Functional Evaluation scale for Duchenne Muscular Dystrophy: a one-year follow-up.

OBJECTIVE:: To determine the responsiveness of the domain climbing up and going down stairs of the Functional Evaluation Scale for Duchenne Muscular Dystrophy (FES-DMD-D3) in a one-year follow-up study. METHOD:: The study included 26 patients with DMD. Effect Size (ES) and Standardized Response Mean (SRM) described the scale's responsiveness. RESULTS:: For climbing up stairs, ES showed that responsiveness was low in the three-month assessments (0.26; 0.35; 0.13; 0.17), low to moderate in the six-month assessments (0.58; 0.48; 0.33), moderate in the nine-month assessments (0.70; 0.68), and high in the 12-month assessment (0.88). SRM showed that responsiveness was low in the three-month assessments (0.29; 0.38; 0.18; and 0.19), low to moderate in the six-month assessments (0.59; 0.51; 0.36), moderate in the nine-month assessments (0.74 and 0.70), and high in the 12-month assessment (0.89). For going down stairs, ES showed that responsiveness was low in the three- and six-month assessments (0.16; 0.25; 0.09; 0.08 and 0.48; 0.35; 0.18, respectively), low to moderate in the nine-month assessments (0.59; 0.44), and moderate in the 12-month assessment (0.71). SRM showed that responsiveness was low in the three- and six-month assessments (0.25; 0.35; 0.12; 0.09 and 0.47; 0.38; 0.21, respectively), low to moderate in the nine-month assessment (0.62; 0.49), and moderate in the 12-month assessment (0.74). CONCLUSION:: Climbing up stairs should be assessed at intervals of nine months or longer, when responsiveness is moderate to high. Going down stairs should be assessed annually because moderate responsiveness was observed in this period.

The clinical relevance of timed motor performance in children with Duchenne muscular dystrophy.

BACKGROUND: The measurement of time and compensatory movements for functional tasks is not frequently used to evaluate children with Duchenne muscular dystrophy (DMD). As muscle weakness progresses, new synergies (compensatory movements) are selected to perform the tasks, demanding higher times. OBJECTIVES: The present study aimed to describe the timed motor performance of rising from the floor to standing, sitting down on the floor from standing, climbing up four steps and climbing down four steps 18 and 6 months prior to gait loss and to investigate possible relationships between these timed performances, the compensatory movements and the Vignos Scale (VS) scores. METHOD: Fourteen children with DMD (mean age: 9.6) were videotaped performing the tasks. Spearman correlation tests investigated the relationships between the times, compensatory movements (scored by FES-DMD) and VS. RESULTS: The timed performance and the compensatory movements for rising from the floor, climbing up and climbing down steps varied broadly and were correlated to each other among patients with DMD at 18 and 6 months prior to gait loss. The relationship was not found for sitting on the floor. The timed performance and compensatory movements for climbing up and down steps also correlated to the VS. CONCLUSION: Rising from the floor, climbing up, and climbing down steps have some components in common, such as the demand for muscle strength and the recruitment of compensatory muscle synergies, as DMD progresses. To sit down on the floor, some children let themselves fall, resulting in a faster performance, but more compensatory movements.

Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy.

OBJECTIVE: During the transitional phase (ambulatory to non-ambulatory), synergies characterize the evolution of Duchenne muscular dystrophy (DMD). This study was performed to describe and quantify compensatory movements while sitting down on/rising from the floor and climbing up/down steps. METHOD: Eighty videos (5 children × 4 assessments × 4 tasks) were recorded quarterly in the year prior to gait loss. Compensatory movements from the videos were registered based on the Functional Evaluation Scale for DMD. RESULTS: The most frequently observed compensatory movements were upper limb support on lower limbs/floor/handrail during all the tasks and lumbar hyperlordosis, trunk support on handrail, equinus foot, increased base of support, non-alternated descent, and pauses while climbing up/down steps. CONCLUSION: Climbing up/down steps showed a higher number of compensatory movements than sitting down on/rising from the floor, which seemed to be lost before climbing up/down steps in ambulatory children with DMD.

Development of a new haptic perception instrument: a pilot study / Desenvolvimento de um novo instrumento de avaliação da percepção háptica: um estudo piloto

ABSTRACT Objective Hand sensory tests do not consider distinct physiological receptors, nor detect normal range variations concerning developmental or pathological changes. We developed an instrument with a set of tests with timing and scoring for assessing haptic perception, which is the interaction between sensory and motor systems, in surfaces exploration, by moving hands. Method Firstly, group meetings were set for test/manual conception and materials testing. The test/manual were submitted to 30 reviewers in 3 stages (10 reviewers on each stage). Results The Hand Haptic Perception Instrument (HHPI) evaluates hand sensorimotor performance on six domains: depression, elevation, texture, compressibility, weight (barognosis) and form perception. Each domain requires specific materials. Score ranges from 0 to 57, being 0 the worst rating. Conclusion This methodological process allowed the development of six domains and instructions to assess haptic perception. This version of HHPI is a pilot model. Further studies will determine reliability and normality ranges.

RESUMO Objetivo Testes de sensibilidade manual não consideram receptores fisiológicos distintos, tampouco variações do desenvolvimento normal ou patológico. Desenvolvemos um instrumento, com pontuação e tempo de desempenho, para avaliar percepção háptica, que é a interação sensório-motora na exploração de superfícies, pelo movimento das mãos. Método Reuniões de grupo foram estabelecidas para desenvolver os testes/ manual e testar materiais. O instrumento e seu manual foram submetidos a 30 revisores, em 3 estágios (com 10 revisores em cada estágio). Resultados O instrumento de avaliação da percepção háptica manual (IAPHM) avalia o desempenho sensório-motor da mão em seis domínios: depressão, elevação, textura, compressibilidade, peso (barognosia) e percepção de forma. Cada domínio requer materiais específicos. A pontuação vai de 0 a 57, sendo 0 a pior pontuação. Conclusão Esse método permitiu o desenvolvimento do instrumento para avaliar percepção háptica. Essa versão do IAPHM é um modelo piloto. Estudos futuros determinarão confiabilidade e variações de normalidade.

Responsiveness of the domain climbing up and going down stairs of the Functional Evaluation scale for Duchenne Muscular Dystrophy: a one-year follow-up

ABSTRACT Objective: To determine the responsiveness of the domain climbing up and going down stairs of the Functional Evaluation Scale for Duchenne Muscular Dystrophy (FES-DMD-D3) in a one-year follow-up study. Method: The study included 26 patients with DMD. Effect Size (ES) and Standardized Response Mean (SRM) described the scale’s responsiveness. Results: For climbing up stairs, ES showed that responsiveness was low in the three-month assessments (0.26; 0.35; 0.13; 0.17), low to moderate in the six-month assessments (0.58; 0.48; 0.33), moderate in the nine-month assessments (0.70; 0.68), and high in the 12-month assessment (0.88). SRM showed that responsiveness was low in the three-month assessments (0.29; 0.38; 0.18; and 0.19), low to moderate in the six-month assessments (0.59; 0.51; 0.36), moderate in the nine-month assessments (0.74 and 0.70), and high in the 12-month assessment (0.89). For going down stairs, ES showed that responsiveness was low in the three- and six-month assessments (0.16; 0.25; 0.09; 0.08 and 0.48; 0.35; 0.18, respectively), low to moderate in the nine-month assessments (0.59; 0.44), and moderate in the 12-month assessment (0.71). SRM showed that responsiveness was low in the three- and six-month assessments (0.25; 0.35; 0.12; 0.09 and 0.47; 0.38; 0.21, respectively), low to moderate in the nine-month assessment (0.62; 0.49), and moderate in the 12-month assessment (0.74). Conclusion: Climbing up stairs should be assessed at intervals of nine months or longer, when responsiveness is moderate to high. Going down stairs should be assessed annually because moderate responsiveness was observed in this period.

Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy / Movimentos compensatorios durante atividades funcionais em criancas deambuladoras com distrofia muscular de Duchenne

Objective: During the transitional phase (ambulatory to non-ambulatory), synergies characterize the evolution of Duchenne muscular dystrophy (DMD). This study was performed to describe and quantify compensatory movements while sitting down on/rising from the floor and climbing up/down steps. Method: Eighty videos (5 children × 4 assessments × 4 tasks) were recorded quarterly in the year prior to gait loss. Compensatory movements from the videos were registered based on the Functional Evaluation Scale for DMD. Results: The most frequently observed compensatory movements were upper limb support on lower limbs/floor/handrail during all the tasks and lumbar hyperlordosis, trunk support on handrail, equinus foot, increased base of support, non-alternated descent, and pauses while climbing up/down steps. Conclusion: Climbing up/down steps showed a higher number of compensatory movements than sitting down on/rising from the floor, which seemed to be lost before climbing up/down steps in ambulatory children with DMD. .

Objetivo: Durante a fase de transição (deambulador – não-deambulador), sinergias musculares caracterizam a evolução da distrofia muscular de Duchenne (DMD). Este estudo visou descrever e quantificar os movimentos compensatórios durante o sentar/levantar do solo, subir/descer degraus. Oitenta vídeos (5 crianças × 4 avaliações × 4 tarefas) foram gravados trimestralmente durante o ano que antecedeu a perda da marcha. Método: Os movimentos compensatórios dos vídeos foram registrados utilizando a Escala de Avaliação Funcional para DMD. Resultados: Os movimentos compensatórios mais frequentemente observados foram apoio de membros superiores nos membros inferiores/solo/corrimão durante todas as tarefas funcionais e hiperlordose lombar, apoio de tronco no corrimão, pés equinos, aumento da base de suporte, descida não alternada e pausas ao subir/descer degraus. Subir/descer degraus apresentou um número maior de movimentos compensatórios do que sentar/levantar do solo. Conclusão: Sentar/levantar do solo foram habilidades perdidas antes de subir/descer degraus em crianças com DMD. .

Treino de força muscular de membros superiores orientado à tarefa na distrofia miotônica do tipo 1: estudo de caso / Task-oriented upper limb strength training in myotonic dystrophy type 1: case study

O objetivo do presente estudo foi verificar os efeitos do treino de força muscular dos membros superiores a partir da abordagem orientada à tarefa, com relação à força muscular, à funcionalidade e à qualidade de vida de um indivíduo adulto com distrofia miotônica do tipo1. Foi realizado um treino de força muscular submáximo (60% da resistência máxima), na freqüência de três terapias semanais, num período de 16 semanas, constituído de três avaliações, a inicial, a final e a de seguimento de um mês do término do protocolo, com base na Medical Research Council scale (MRC), no Total Muscle Score (TMS), na Medida de Função Motora (MFM) e na versão brasileira do questionário de qualidade de vida SF-36. Com relação à força muscular, houve um incremento de 5% no TMS. Na funcionalidade, a MFM apresentouum acréscimo de 1,04% na avaliação final, o qual se perdurou na avaliação de seguimento. Na SF-36, o participante apresentou um acréscimo de 2,12% na segunda avaliação, retornando à pontuação inicial após um mês do protocolo; porém no domínio de capacidade funcional manteve-se o aumento de 20%. O treino de força muscular submáximo orientado à tarefa mostrou-se benéfico com base na forçamuscular e no domínio de capacidade funcional do questionário de qualidade de vida; porém denotou restrita variação quantitativa no âmbito da funcionalidade.

This study aimed to assess the effects of upper limb strength training using a task-oriented approach with respect to muscle strength, functionality and quality of life in an adult with myotonic dystrophy type1. Submaximal muscular strength training (60% maximum resistance)was performed three times a week for a period of 16 weeks, consisting of three evaluations, an initial, a final, and then a follow-up one month after protocol completion based on the Medical Research Council scale (MRC), Total Muscle Score (TMS), Motor Function Measure (MFM), and the Brazilian version of the quality of life questionnaire SF-36. Regardingmuscle strength, there was an increase of 5% in the TMS. In terms offunctionality, the MFM showed an increase of 1.04% in the final evaluationand remained the same in the follow-up evaluation. In the SF-36, theparticipant had an increase of 2.12% in the second evaluation, returning to the initial score one month after protocol. However, concerning functionalcapacity the same 20% increase was observed. The task-orientedsubmaximal muscle strength training proved to be beneficial based on the information reported about muscle strength and functional capacity in the quality of life questionnaire; nonetheless, a small quantitative variation regarding functionality was seen.