North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Mazzone, Elena; Martinelli, Diego; Berardinelli, Angela; Messina, Sonia; D’Amico, Adele; Vasco, Gessica; Main, Marion; Doglio, L.; Politano, Luisa; Cavallaro, Fabio; Frosini, Silvia; Bello, Luca; Carlesi, Adelina; Bonetti, Annamaria; Zucchini, Elisabetta; Sanctis, Roberto De; Scutifero, Marianna; Bianco, F.; Rossi, Francesca; Motta, Maria Chiara; Sacco, Angela; Donati, Maria Alice; Mongini, Tiziana; Pini, Antonella; Battini, Roberta; Pegoraro, Elena; Pane, Marika; Pasquini, Elisabetta; Bruno, Claudio; Vita, Giuseppe; Waure, Chiara de; Bertini, Enrico; Mercuri, Eugenio

doi:10.1016/j.nmd.2010.06.014

Cited by 182 publications

(171 citation statements)

References 24 publications

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“…All patients in the 2 investigator‐initiated studies (historical control group) had a genetically confirmed diagnosis of DMD and met predefined entry criteria 25, 30. All eligible patients visiting the participating centers during the enrollment period were enrolled, supporting that the population analyzed represented an appropriate and unbiased control cohort of DMD patients.…”

Section: Methodsmentioning

confidence: 96%

“…These 2 investigator‐initiated studies are the only DMD natural history data sets that have prospectively and consistently collected 6MWT assessments for a substantial number of patients for 36 months or longer. Comparability to the eteplirsen data set is supported by equivalent requirements across the studies for genetic confirmation of DMD diagnosis, patient care according to the same international treatment guidelines for DMD,27, 28 6MWT administration following generally accepted standards,13, 29, 30 and exclusion of patients with cognitive impairment that could interfere with test adherence. Patient‐level data from the registries were pooled, and analysis was performed to evaluate impact of genotype on disease natural history as well as to compare an appropriately matched historical control group to eteplirsen‐treated patients.…”

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confidence: 99%

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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

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392

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ObjectiveTo continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three‐year progression of eteplirsen‐treated patients was compared to matched historical controls (HC).MethodsAmbulatory DMD patients who were ≥7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received eteplirsen on an open‐label basis. The primary functional assessment in this study was the 6‐Minute Walk Test (6MWT). Respiratory muscle function was assessed by pulmonary function testing (PFT). Longitudinal natural history data were used for comparative analysis of 6MWT performance at baseline and months 12, 24, and 36. Patients were matched to the eteplirsen group based on age, corticosteroid use, and genotype.ResultsAt 36 months, eteplirsen‐treated patients (n = 12) demonstrated a statistically significant advantage of 151m (p < 0.01) on 6MWT and experienced a lower incidence of loss of ambulation in comparison to matched HC (n = 13) amenable to exon 51 skipping. PFT results remained relatively stable in eteplirsen‐treated patients. Eteplirsen was well tolerated. Analysis of HC confirmed the previously observed change in disease trajectory at age 7 years, and more severe progression was observed in patients with mutations amenable to exon skipping than in those not amenable. The subset of patients amenable to exon 51 skipping showed a more severe disease course than those amenable to any exon skipping.InterpretationOver 3 years of follow‐up, eteplirsen‐treated patients showed a slower rate of decline in ambulation assessed by 6MWT compared to untreated matched HC. Ann Neurol 2016;79:257–271

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Section: Methodsmentioning

confidence: 96%

mentioning

confidence: 99%

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

Self Cite

453

392

View full text Add to dashboard Cite

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“…O presente estudo buscou um teste validado e de fácil aplicabilidade, pois diversos autores relatam que esta é uma ferramenta de fácil aplicabilidade e acessível que pode ser facilmente utilizada em meninos com DMD deambulador sem comprometimento cognitivo ou problemas comportamentais 17 . Além destes fatores, observamos a necessidade de incrementar o teste com comando verbal contínuo, a fim de estimular a deambulação durante os testes em solo e em água.…”

Section: Discussionunclassified

“…Observamos que apesar do empuxo facilitar a flexão de quadril e joelhos durante a fase de balanço, o contrário ocorreu na fase de apoio, onde é necessario aumentar a demanda energética para vencer o empuxo e apoiar o membro para realizar o deslocamento. Devido à combinação da perda da resistência e do envolvimento cardiopulmonar, os pacientes com DMD têm um aumento no gasto energético durante a locomoção (mais energia metabólica consumida por distância percorrida) com o aumento da progressão da doença 17 .…”

Section: Discussionunclassified

Energy expenditure analysis in Duchenne muscular dystrophy in land and aquatic environment

Silva

Hengles²,

Verdiani³

et al. 2015

RNC

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original RESUMO Introdução. A Distrofia Muscular de Duchenne (DMD) é uma doença progressiva, caracterizada pela degeneração progressiva das fibras musculares necessitando de maior demanda energética durante as atividades funcionais. Desta forma, é imprescindível a avaliação clínica do gasto energético em diferentes atividades e ambientes. Objetivos. Analisar o gasto energético de crianças com DMD durante a marcha nos ambientes aquático e terrestre. Método. Participaram deste estudo 8 meninos com DMD (10,4±0,5 anos), deambuladores, colaborativo para a realização dos testes, não estavam inseridos em programas de reabilitação e não apresentaram doenças associadas. Foi realizado o Teste de caminhada de 6 minutos e calculamos o índice de gasto energético (IGE) através da fórmula: FC final -FC inicial dividida pela velocidade (metros/segundo), sendo expresso em batimentos/ minuto nos meios aquático e terrestre. Resultados. Observamos que no ambiente aquático os pacientes com DMD percorreram um distância menor, comparado ao solo (p=0,012). Quanto ao Índice de Gasto Energético (IGE), os pacientes com DMD obtiveram uma média no solo de 0,43±0,15 e na água de 3,69±0,44 (p=0,012). Conclusões. Os pacientes percorreram uma distância menor e com um gasto energéti-co maior no ambiente aquático, quando comparado com o terrestre.Unitermos. Distrofia Muscular de Duchenne, Marcha, Metabolismo Energético, Ambiente Aquático Citação. Silva KM, Hengles RC, Verdiani MB, Cecconi ME, Rocco FM, Braga DM. Análise do gasto energético na Distrofia muscular de Duchenne nos ambientes aquático e terrestre. ABSTRACTIntroduction. Duchenne muscular dystrophy (DMD) is a progressive genetic disease, characterized by progressive and irreversible degeneration of muscle fibers, requiring energy demand during functional activities. Given this characteristic, energy expenditure becomes a key factor in a rehabilitation program. So, it is essential energy expenditure clinical assessment in different environments. Objective. Analyze the energy expenditure of children with DMD during gait in aquatic and land environments. Method. The study included 8 boys with DMD (10.4±0.5 years), ambulating and collaborative for testing. They were not included in rehabilitation programs and had no associated diseases. It was applied 6-minute walk test (6MWT) in land and aquatic environment, and calculate energy expenditure index by the formula: End FC -divided by the initial speed FC (meters/ second) and is expressed in beats/minute in the aquatic and terrestrial. Results. It was observed that DMD patients walked (p=0.012) a shorter distance in water in relation to the ground. DMD patients had (p=0.012) higher average of energy expenditure in aquatic environment (3.69±0.44) when compared to land (0.43±0.15). Conclusion. The patients walked a shorter distance and with higher energy expenditure in aquatic environment.Keywords. Muscular Dystrophy Duchenne, Gait, Energy Metabolism, Aquatic Environment Citation. Silva KM, Hengles RC, Verdiani MB, Cecconi ME, Rocco FM, Braga DM....

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“…The "Spinal Muscle Atrophy Functional Motor Scale" was prepared for SMA patients [118], the "Amyotrophic Lateral Sclerosis Functional Classification Scale" and the ALS score for patients with ALS [82], and the "Hammersmith Motor Skill Score" for patients with DMD [119]. Among the scales focusing only on one region/function of the body, Trunk Control Test and Trunk Impairment Scale are for the trunk [120,121], the "Brooke Upper Extremity Scale" is for upper extremity [122], the "Vignos Lower Extremity Scale" is for lower extremity [123], the "North Star Ambulatory Assessment" is for ambulation [124] and the "Jebsen-Taylor Hand Function Test" and "Activlim" are for the hand functions [125,126].…”

Section: Assessment Of Motor Functionmentioning

confidence: 99%

Neuromuscular Diseases and Rehabilitation

Demir¹

2017

Neurological Physical Therapy

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Neuromuscular diseases (NMDs) are a heterogeneous group of diseases that are inherited or acquired, resulting from an abnormality in the anterior horn motor cells, peripheral nerves, neuromuscular junctions, or muscles.In NMDs, evaluation is performed to monitor the progression of the disease, to determine the appropriate treatment methods, to investigate the efficacy of treatment methods, and to predict and prevent possible complications. Evaluation methods should include evaluation of respiratory functions, muscle testing, normal joint movement, evaluation of flexibility, evaluation of motor functions and functional capacities, functional posture, and gait analysis.The aim of physiotherapy approaches is to improve the quality of life of patients and their families. The rehabilitation program should include the protection of the functional level of the patient and the physical and psychological functions, increasing the physical and mental capacity of the patient, and slowing the progress of the disease symptoms. The rehabilitation program should include the preservation of muscle strength, an exercise program for the prevention of contractures, increasing respiratory function and aerobic capacity, gait and balance training, fall prevention, walking aid training, psychosocial approach, vocational counseling, ergotherapy processes and nutrition expert support.

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North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Cited by 182 publications

References 24 publications

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Energy expenditure analysis in Duchenne muscular dystrophy in land and aquatic environment

Neuromuscular Diseases and Rehabilitation

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