Can neuromuscular differences manifest by early adolescence in males between predominantly endurance and strength sports?

INTRODUCTION: Although neuromuscular function varies significantly between strength and endurance-trained adult athletes, it has yet to be ascertained whether such differences manifest by early adolescence. The aim of the present study was to compare knee extensor neuromuscular characteristics between adolescent athletes who are representative of strength (wrestling) or endurance (triathlon) sports. METHODS: Twenty-three triathletes (TRI), 12 wrestlers (WRE) and 12 untrained (CON) male adolescents aged 13 to 15 years participated in the present study. Maximal voluntary isometric contraction (MVIC) knee extensor (KE) torque was measured, and 100-Hz magnetic doublets were delivered to the femoral nerve during and after KE MVIC to quantify the voluntary activation level (%VA). The doublet peak torque (T100Hz) and normalized vastus lateralis (VL) and rectus femoris (RF) EMG (EMG/M-wave) activities were quantified. VL and RF muscle architecture was also assessed at rest using ultrasound. RESULTS: Absolute and relative (to body mass) KE MVIC torques were significantly higher in WRE than TRI and CON (p < 0.05), but comparable between TRI and CON. No significant differences were observed between groups for %VA, T100Hz or either VL or RF muscle thickness. However, VL EMG/M-wave was higher, RF fascicle length longer, and pennation angle smaller in WRE than TRI and CON (all p < 0.05). CONCLUSION: The wrestlers were stronger than triathletes and controls, potentially as a result of muscle architectural differences and a greater neural activation. Neuromuscular differences can already be detected by early adolescence in males between predominantly endurance and strength sports, which may result from selection bias and/or physical training.

Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.

BACKGROUND AND AIMS: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients. METHODS: Fifty-three pediatric patients who were assessed prior to reaching the age of 20, and who had clinical diagnoses of axonal hereditary neuropathy or presented with axonal neuropathy as the primary clinical feature, were included in the study. The recruitment of these cases took place from January 1, 2018, to December 31, 2020. The diagnosis was based on clinical and electrophysiological data. A molecular assessment was made using target-gene panel or whole-exome sequencing. Subsequently, segregation analysis was performed on available family members, and all candidate variants found were confirmed through Sanger. RESULTS: A molecular diagnosis was reached in 68% of the patients (n = 36/53), considering only pathogenic and probably pathogenic variants. Variants in MFN2 (n = 15) and GJB1 (n = 3) accounted for half of the genetically confirmed patients (50%; n = 18/36). The other 18 genetically diagnosed patients had variants in several less common genes. INTERPRETATION: Apart from MFN2 and GJB1 genes, universally recognized as a frequent cause of axonal neuropathies in most studied population, our Brazilian cohort of children with axonal neuropathies showed an important genetic heterogeneity, probably reflecting the multi ethnicity of the Brazilian population. Diagnostic, counseling, and future interventions should consider this characteristic.

Quality of life assessment instruments in children and adolescents with neuromuscular diseases: a systematic scoping review.

OBJECTIVE: (1) To identify instruments used to assess quality of life (QoL) in children and adolescents with neuromuscular diseases; (2) To identify the psychometric properties contained in these instruments. METHODS: This is a scoping review in which the electronic databases Embase, Scielo, Scopus, Pubmed and Lilacs were used as well as grey literature. The following terms were used in the search for articles published in the last 10 years: children, adolescents, neuromuscular disease, and quality of life. RESULTS: In total, 15 articles were included and evaluated, indicating 7 instruments used to assess QoL (PedsQL™ Inventory 3.0 Neuromuscular Module, the PedsQL™ 4.0, the PedsQL DMD Module, the PedsQL ™ MFS, the SOLE, the KIDSCREEN and the LSI-A). The number of items ranged from 17 to 45. In addition, 6 instruments showed psychometric properties, but only 2 showed good and high quality, either in internal reliability or reproducibility. CONCLUSION: Our results were able to map the main QoL assessment instruments of children and adolescents with neuromuscular disease and the most cited instrument was the PedsQL™ Inventory 3.0 Neuromuscular Module. Larger studies that assess psychometric properties and that are validated for most diseases are needed.

Height and body mass index distribution in children and adolescents with and without spina bifida.

OBJECTIVE: Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. METHOD: This study included 101 participants (SB: n = 18; non-SB: n = 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. RESULTS: In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2 = 0.064, p = 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2 = 0.011, p = 0.301). CONCLUSIONS: These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

Height and body mass index distribution in children and adolescents with and without spina bifida

Abstract Objective Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. Method This study included 101 participants (SB: n= 18; non-SB: n= 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. Results In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2= 0.064, p= 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2= 0.011, p= 0.301). Conclusions These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

Knee osteoarthritis and aging: evaluation of the different muscles of thigh / Artrosis de rodilla y envejecimiento: investigación de los diferentes músculos del muslo / Osteoartrite de joelho e envelhecimento: investigação de diferentes músculos da coxa

ABSTRACT Introduction: Osteoarthritis (OA) is a chronic inflammatory degenerative disease, characterized by progressive degeneration of the articular cartilage, affecting mostly the knee joint. The elderly population is the most affected, intensifying the aging process. The concentration of intramuscular adipose tissue in the thigh muscles and knee OA at different ages remains under investigation. Objective: Investigate the cross-sectional area of thigh muscles at different ages with the relationship of the presence of intramuscular fat and knee OA. Methods: 80 participants were paired into 4 groups: Young Osteoarthritis Group and Old Osteoarthritis Group, both sedentary with knee OA diagnosis II or III; Healthy Young Group and Healthy Old Group, both healthy and sedentary. The groups were paired according to gender and body mass index, submitted to physiotherapeutic evaluation, WOMAC questionnaire, knee X-ray and thigh CT scans. Morphometric analysis was performed manually with ITK-SNAP software (version 3.6), by a single evaluator. Statistical analysis used the one-way ANOVA test followed by Bonferroni post-hoc for dependent variables (p≤0.05). Results: Comparison of the cross-sectional area of the rectus femoris, vastus lateralis, semitendinosus, sartorius and gracilis muscles between the groups indicated no significant differences (p>0.05). The study of attenuation for muscle adipose tissue indicated no significant difference in the values of between the OA-Young and Aged-S groups for all the muscles evaluated. Conclusion: Young individuals with knee OA present muscle morphological characteristics similar to those found during the aging process, characterizing early aging of the thigh muscles. Level of Evidence III; Retrospective cross-sectional and observational study.

RESUMEN Introducción: La artrosis (OA) es una enfermedad inflamatoria degenerativa crónica, caracterizada por la degeneración progresiva del cartílago articular, que afecta principalmente a la articulación de la rodilla. La población anciana es la más afectada, intensificándose el proceso de envejecimiento. La concentración de tejido adiposo intramuscular en los músculos del muslo y la OA de rodilla a diferentes edades sigue siendo objeto de investigación. Objetivo: Investigar el área transversal de los músculos del muslo a diferentes edades con la relación de la presencia de grasa intramuscular y la OA de rodilla. Métodos: Se emparejó a 80 participantes en 4 grupos: Grupo de jóvenes con osteoartritis y Grupo de mayores con osteoartritis, ambos sedentarios y con diagnóstico de OA de rodilla II o III; Grupo de jóvenes sanos y Grupo de mayores sanos, ambos sanos y sedentarios. Los grupos fueron emparejados según sexo e índice de masa corporal, sometidos a evaluación fisioterapéutica, cuestionario WOMAC, exámenes radiográficos de las rodillas y tomografía computarizada del muslo. El análisis morfométrico se realizó manualmente con el software ITK-SNAP (versión 3.6), por un único evaluador. En el análisis estadístico se utilizó la prueba ANOVA unidireccional seguida del post-hoc de Bonferroni para las variables dependientes (p≤0,05). Resultados: La comparación del área transversal de los músculos recto femoral, vasto lateral, semitendinoso, sartorio y gracilis entre los grupos no indicó diferencias significativas (p>0,05). El estudio de la atenuación para el tejido adiposo muscular no indicó diferencias significativas en los valores de entre los grupos OA-Young y Aged-S para todos los músculos evaluados. Conclusión: Individuos jóvenes con OA de rodilla presentan características morfológicas musculares similares a las encontradas durante el proceso de envejecimiento, caracterizando el envejecimiento precoz de los músculos del muslo. Nivel de Evidencia III; Estudio transversal y observacional retrospectivo.

RESUMO Introdução: A osteoartrite (OA) é uma doença inflamatória crônico-degenerativa, caracterizada pela degeneração progressiva da cartilagem articular, acometendo em maior parte a articulação do joelho. A população idosa é a mais atingida, intensificando o processo de envelhecimento. A concentração de tecido adiposo intramuscular nos músculos da coxa e a OA de joelho em diferentes idades permanece em investigação. Objetivo: Investigar a área de secção transversa dos músculos da coxa em diferentes idades com a relação da presença de gordura intramuscular e OA de joelho. Métodos: 80 participantes foram pareados em 4 grupos: Grupo Osteoartrite Jovem e Grupo Osteoartrite Idoso, ambos sedentários com diagnóstico de OA de joelho II ou III; Grupo Jovem Saudável e Grupo Idoso Saudável, ambos saudáveis e sedentários. Os grupos foram pareados de acordo com sexo e índice de massa corporal, submetidos à avaliação fisioterapêutica, questionário WOMAC, exames de raio-x dos joelhos e tomografia computadorizada da coxa. A análise morfométrica foi realizada manualmente com software ITK-SNAP (versão 3.6), por um único avaliador. Análise estatística utilizou o teste ANOVA one-way seguido pelo post-hoc de Bonferroni, para variáveis dependentes (p≤0,05). Resultados: A comparação da área de secção transversa dos músculos reto femoral, vasto lateral, semitendinoso, sartório e grácil, entre os grupos, não indicou diferenças significativas (p>0,05). O estudo da atenuação para o tecido adiposo muscular não indicou diferença significativa nos valores de entre os grupos OA-Jovem e Idoso-S para todos os músculos avaliados. Conclusão: Indivíduos jovens com OA de joelho apresentam características morfológicas musculares semelhantes às encontradas durante o processo de envelhecimento, caracterizando um envelhecimento precoce dos músculos da coxa.Nível de Evidência III; Estudo retrospectivo transversal e observacional.

Vibration perception among children and adolescents with Charcot-Marie-tooth disease and implications for foot posture.

BACKGROUND: Alterations in vibration perception among children and adolescents with Charcot-Marie-Tooth disease might explain observed changes in foot posture. Therefore, this cross-sectional study compared the vibration perception of the lower limbs in youths with and without Charcot-Marie-Tooth disease and verified the cut-off value of the distal vibration perception for the Charcot-Marie-Tooth group. In addition, associations between dynamic plantar pressure, vibration perception and isometric muscle strength were investigated. METHODS: Participants aged 9-18 (Charcot-Marie-Tooth group n = 32; Typical group n = 32) had vibration perception measured by a 128-Hz graduated tuning fork. The static and dynamic foot posture were evaluated by the Foot Posture Index and pressure distribution measuring system, respectively. For the Charcot-Marie-Tooth group, a hand-held dynamometer evaluated the isometric muscle strength of the lower limbs. FINDINGS: Children with Charcot-Marie-Tooth disease presented impaired vibration perception at the distal phalanx of the hallux and head of the first metatarsal compared to their typically developing peers, while adolescents with Charcot-Marie-Tooth disease showed impairment in all the tested regions compared to their typically developing peers. The cut-off value for vibration perception for participants with Charcot-Marie-Tooth disease was 5.7, considering the original grade of the tuning-fork 128 Hz. Among the associations established for the Charcot-Marie-Tooth group, a greater vibration perception at the distal phalanx of the hallux was associated with a longer rearfoot contact time (ß = 31.02, p = 0.04). INTERPRETATION: These new findings may guide the clinical evaluation and rehabilitation treatment for children and adolescents with Charcot-Marie-Tooth disease.

Cross-cultural adaptation and concurrent validity of the children's OMNI scale of perceived exertion for Arm-Crank activity in Spina Bifida.

PURPOSE: To perform a cross-cultural adaptation of the OMNI verbal descriptors to Brazilian-Portuguese and examine the validity of the Brazilian version for arm-crank activity. MATERIALS AND METHODS: Cross-cultural adaptation stages were: permission, translation, synthesis, back translation, expert committee review, pretesting, and submission and appraisal. For the concurrent validity, a Brazilian OMNI-Wheel scale was used to obtain rating of perceived exertion for the overall body (RPEOverall) and arms (RPEArms) in participants (n = 9, 10-17 years) with spina bifida. Cardiopulmonary exercise test was used to measure heart rate (HR) and oxygen uptake (VO2). Repeated Measures Correlation (rrm) was used to examine the scale validity. RESULTS: The cross-cultural adaptation produced equivalence between English and Brazilian-Portuguese verbal descriptors based on successful translation and pretesting. The Brazilian OMNI-wheel was validated based on strong associations of RPEOverall with VO2 (rrm (35) = 0.86, 95% CI [0.93, 0.73], p < 0.001) and HR (rrm (35) = 0.89, 95% CI [0.94, 0.79], p < 0.001) and RPEArms with VO2 (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001) and HR (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001). CONCLUSIONS: The OMNI scale was cross-culturally adapted to Brazilian-Portuguese. The Brazilian OMNI-Wheel was validated based on strong associations of RPE with HR and VO2. Implications For RehabilitationThe original English OMNI was cross-culturally adapted to Brazilian-Portuguese.A Brazilian wheelchair OMNI was concurrently validated for Arm-Crank Activity in adolescents with spina bifida.This OMNI scale version may aid health providers in monitoring perceived exertion in Brazil.

Generation of percentile curves for strength and functional abilities for boys with Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Considering the heterogeneity of the clinical manifestations of Duchenne muscular dystrophy (DMD), it is important to describe their various clinical profiles. Thus, in this study we aimed to develop percentile curves for DMD using a battery of measures to define the patterns of functional abilities, timed tests, muscle strength, and range of motion (ROM). METHODS: This retrospective data analysis was based on the records of patients with DMD using the Motor Function Measure (MFM) scale, isometric muscle strength (IS), dorsiflexion ROM, 10-meter walk test (10 MWT), and 6-minute walk test (6 MWT). Percentile curves (25th, 50th, and 75th percentiles) with MFM, IS, ROM, 10 MWT, and 6 MWT on the y axis and patient age on the x axis were constructed using the generalized additive model for location, scale, and shape, with Box-Cox power exponential distribution. RESULTS: There were records of 329 assessments of patients between 4 and 18 years of age. The MFM percentiles showed a gradual reduction in all dimensions. Muscle strength and ROM percentiles showed that the knee extensors were the most affected from 4 years of age, and dorsiflexion ROM negative values were noted from the age of 8 years. The 10 MWT showed a gradual increase in performance time with age. For the 6 MWT, the distance curve remained stable until 8 years, with a subsequent progressive decline. DISCUSSION: In this study we generated percentile curves that can help health professionals and caregivers follow the trajectory of disease progression in DMD patients.

Teste de fadiga de preensão manual usando contrações dinâmicas em crianças típicas / Handgrip fatigue test using dynamic contractions in typical children

Objective: To verify the development of fatigue and sex-influence on the handgrip during dynamic contractions in typical children. Methods: Cross-section study. Fifty-eight children, distributed into two groups according to sex (30 boys), aged 8 to 12 years, of both sexes, performed successive dynamic contractions with a bulb dynamometer until they reached maximum perceived effort. The values from the first, the last contractions of the fatigue test, and the measure after 30-s of the last contraction (recovery contraction) were recorded and compared using the linear regression model with mixed effects. T-Student test was used to compare the perceived effort scores and time-to-fatigue between groups. Results: The handgrip values significantly decreased, and perceived effort scores significantly increased in the final measure in relation to the initial measure of the fatigue test. After the fatigue handgrip test, 30-sec of recovery was insufficient to restore the baseline handgrip values. There were no differences between the female and male groups for all variables. Conclusion: The handgrip fatigue test using dynamic contractions showed it efficiently induces motor and perceived fatigue in children, without differences between sexes.

Objetivo: Verificar o desenvolvimento da fadiga e a influência do sexo na preensão manual durante contrações dinâmicas em crianças típicas. Métodos: Estudo transversal. Cinquenta e oito crianças, distribuídas em dois grupos de acordo com o sexo (30 meninos), com idades entre 8 e 12 anos, de ambos os sexos, realizaram sucessivas contrações dinâmicas com um dinamômetro de bulbo até atingirem o esforço máximo percebido. Os valores da primeira, da última contração do teste de fadiga e da medida após 30 segundos da última contração (contração de recuperação) foram registrados e comparados usando o modelo de regressão linear com efeitos mistos. O teste T-Student foi usado para comparar os escores de esforço percebido e o tempo até a fadiga entre os grupos. Resultados: Os valores de preensão palmar e os escores de esforço percebido diminuíram significativamente durante o teste de fadiga. Não houve diferenças entre os grupos para todas as variáveis. Conclusão: O teste de fadiga de preensão palmar utilizando contrações dinâmicas mostrou-se eficaz na indução da fadiga motora e percebida em crianças, sem diferenças entre os sexos.

Atividade física objetiva em jovens com espinha bífida: um protocolo de revisão sistemática / Objective physical activity in youth with spina bifida: a systematic review protocol

Atividade física (AF) diária associa-se a melhora do estado de saúde de jovens. Evidências indicam que crianças com espinha bífida (EB) estão em risco para inatividade física. Este artigo apresenta um protocolo de revisão sistemática que propõe avaliar níveis de AF objetiva diária em crianças e adoles-centes com EB. Este protocolo foi desenvolvido seguindo o Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) 2015. A revisão foi registrada no International Prospective Register of Systematic Reviews (PROSPERO, CRD42022349920). Os critérios de inclu-são baseiam-se em artigos originais: 1) publicados em revistas com revisão por pares; 2) que avaliem AF objetiva diária em crianças e adolescentes com EB; e 3) que utilizem monitores para avaliação da AF (ex: acelerômetros). Palavras-chave foram baseadas no MeSH e literatura existente. As seguin-tes bases de dados serão utilizadas como fontes de informação: PubMed, Embase, SPORTDiscus, LILACS, CINAHL, Scopus, PsycINFO e Web of Science. Os seguintes dados serão extraídos: características do estudo e da amostra, variáveis de AF (protocolos de medição e pontos de corte de classificação de AF) e resultados dos níveis de AF. A qualidade dos estudos será avaliada com o Standard Quality Assessment Criteria for Evaluating Primary Research Papers from a Variety of Fields(ERA). A busca e seleção dos estudos, extração de dados e avaliação de qualidade serão realizadas por dois revisores independentes. Espera-se que a revisão forneça evidências para auxiliar na pre-venção e tratamento de inatividade física e guiar futuras pesquisas sobre AF objetiva em crianças e adolescentes com EB

Daily physical activity (PA) is associated with improvements in health status in youth. However, evidence indicates that children with spina bifida (SB) are at risk for physical inactivity. This paper documents a systematic review protocol that aims to examine daily objective PA levels in children and adolescents with SB. This protocol was developed following the Preferred Reporting Items for Systematic Review and Me-ta-Analysis Protocols (PRISMA-P) 2015. The protocol was registered on the International Prospective Register of Systematic Reviews (PROSPERO, CRD42022349920). The inclusion criteria are based on original articles: 1) published in peer-reviewed journals; 2) examining daily objective PA in children and adolescents with SB; and 3) using PA monitors to measure PA (e.g., accelerometers). Key words were de-termined based on MeSH and existing literature. The following databases will be used as sources of infor-mation: PubMed, Embase, SPORTDiscus, LILACS, CINAHL, Scopus, PsycINFO, and Web of Science. Study and sample characteristics, PA variables (measurement protocols and PA classification cut-points) and PA levels results will be extracted from the studies. The quality of studies will be assessed with the Standard Quality Assessment Criteria for Evaluating Primary Research Papers from a Variety of Fields (ERA). The search and selection of articles, and extraction of data and quality assessment will be performed by two in-dependent reviewers. It is expected that this study provides evidence to support prevention and treatment of physical inactivity and guide future research directions in objective PA in children and adolescents with SB

Muscle strength, rate of torque development and neuromuscular activation of the upper arm muscles in children and adolescents with spina bifida.

BACKGROUND: The use of locomotive devices requires sufficient levels of upper limb strength. Therefore, it is important to evaluate the maximal isometric torque, rate of torque development and neuromuscular activation in youth with spina bifida. The objective was to investigate these parameters in the elbow muscles of youth with spina bifida versus healthy age-matched peers. METHODS: Forty-eight participants (8-17 years) were recruited: Spina Bifida (n = 23) and non-affected Controls (n = 25). Maximal isometric elbow flexor/extensor contractions were performed to assess maximal muscle strength (peak torque) and rate of torque development, along with synchronized electromyography recording in the biceps and triceps brachii muscles. FINDINGS: During elbow flexor contractions, Spina Bifida showed reduced rate of torque development in the early contraction phase (0-50 ms) along with lowered relative rate of torque development in the later rate of torque development phase (0-100/200/300 ms) compared to controls. Spina Bifida showed reduced rate of torque development for the elbow extensors in the later phase of rising muscle force (0-200/300 ms) compared to controls. Lower isometric peak torque and smaller triceps brachii electromyography amplitudes (0-200/300 ms) were observed during elbow extensor contractions in Ambulatory spina bifida participants vs. controls. INTERPRETATION: Although a majority of peak torque and rate of torque development parameters did not differ, significant impairments in maximal and rapid elbow muscle force characteristics were noted in Spina Bifida compared to non-affected Controls. Ambulatory and Non-ambulatory spina bifida participants demonstrated similar rate of torque development in their upper arm muscles.

Defining ambulation status in patients with Duchenne muscular dystrophy using the 10-metre walk test and the motor function measure scale.

PURPOSE: Timed functional tests have been explored to understand the natural history of Duchenne muscular dystrophy (DMD) and to establish warning signs of loss of gait. This study verified whether the combination of the 10-metre walk test (10MWT) and the motor function measure (MFM) could classify the ambulation status of DMD patients. METHOD: Thirty-two patients, aged between 5 and 22 years, with independent gait initially evaluated over 11 years participated in the study. Two groups were created: ambulators and non-ambulators. For both groups, we calculated a 10MWT ratio, by dividing the time spent to perform the last evaluation by the penultimate evaluation, and a MFM dimension-1 score (MFM-D1), collected in the same period. For the statistical analysis, the CART algorithm ("rpart" package in R) classified the patients into ambulators and non-ambulators according to two continuous variables: the 10MWT ratio and the MFM-D1 score. RESULTS: The cut-off points were 1.1 for the 10MWT ratio and 26 points for the MFM-D1, which distinguished 70% of the patients as either ambulators or non-ambulators. CONCLUSION: This simple measurement strategy can be used by therapists to adjust their rehabilitation strategies and goals.Implications for rehabilitationCombination of 10MWT ratio with MFM-D1 reveal an "indicator" for the ambulation status of patients with DMD.Physiotherapists can guide clinical care and prepare the patient and family for loss of gait.CART algorithm describes how we classified the patients according to two continuous variables.70% Of the patients with DMD can be distinguished as either ambulators or non-ambulators.

Alternative instrument for the evaluation of handgrip strength in Duchenne muscular dystrophy.

BACKGROUND: The commonly used dynamometers can be ineffective in evaluating handgrip in patients with Duchenne muscular dystrophy (DMD), especially children with generalized muscle weakness. The aim of this study was to analyze whether the modified sphygmomanometer is an effective instrument for handgrip strength evaluation in patients with DMD, during different stages of the disease. METHOD: The handgrip strength of 33 patients was evaluated by the Jamar dynamometer and the modified sphygmomanometer. Motor function was evaluated by the Motor Function Measurement (MFM) scale. Four evaluations, with a six-month interval between each, were performed: Evaluation 1 (N = 33), Evaluation 2 (N = 24), Evaluation 3 (N = 15), and Evaluation 4 (N = 8). A linear regression model with mixed effects was used for the longitudinal data and descriptive analysis of strength for all four evaluations. RESULT: The first evaluation data presented very high correlations between the dynamometer and the modified sphygmomanometer (r = 0.977; p < 0.001). The longitudinal analysis showed a significant difference between Evaluation 1 and the other handgrip strength evaluations obtained using the dynamometer (p < 0.05) but not the modified sphygmomanometer (p > 0.05). Null values were obtained only when using the dynamometer device. CONCLUSION: The modified sphygmomanometer seems to be more suitable than the dynamometer for measuring handgrip strength in all stages of DMD.

Validity of the VO2peak prediction model to Brazilian youth with spina bifida / Validação de um modelo preditivo do VO2pico em jovens brasileiros com espinha bífida

Objective:To validate a peak oxygen uptake (VO2peak) prediction model in Brazilian youth with spina bifida. Methods:Twenty participants with spina bifida performed a graded arm crank test to measure VO2peak. The VO2peakvalues predicted by the equation "VO2peak(mL/min) = 194 + 18 × peak workload ­110 × sex" were compared to the VO2peakvalues measured. Results:The predicted VO2peakwas not different from the measured VO2peak. A high correlation was found between both VO2peak values, and the Bland-Altman analysis did not show a significant difference, demonstrating agreement between the values. Conclusions:The VO2peak prediction model in Brazilian youth with spina bifida was validated, being an advantageous alternative to assess and follow physical fitness and prescribe exercise training intensity.

Objetivo: Validar uma equação preditiva do consumo pico de oxigênio (VO2pico) em jovens brasileiros com espinha bífida. Métodos: Vinte participantes com espinha bífida realizaram um teste ergoespirométrico de membros superiores para medir o VO2pico. Os valores de VO2pico preditos pela equação "VO2pico (mL/min) = 194 + 18 × carga pico ­ 110 × sexo" foram comparados com o VO2pico medido. Resultados: O VO2pico predito pela equação não foi diferente do VO2pico medido. Foi encontrada alta correlação entre os valores de VO2pico e, a análise Bland Altman não mostrou diferença significativa, demonstrando concordância entre os valores. Conclusão: A equação preditiva do VO2pico é válida para jovens brasileiros com espinha bífida e é uma alternativa vantajosa para obter e acompanhar o condicionamento físico e prescrever a intensidade de treinamento nesses indivíduos.

The cross-cultural adaptation, construct validity, and intra-rater reliability of the functional mobility scale in Brazilian Portuguese for children and adolescents with spina bifida.

PURPOSE: The purpose of this study was to perform a cross-cultural adaptation of the Functional Mobility Scale (FMS) to Brazilian Portuguese and analyse its construct validity and intra-rater reliability in a sample of caregivers of children and adolescents with spina bifida (SB). MATERIAL AND METHODS: The cross-cultural adaptation followed five stages: two forward translations, synthesis, back-translation, committee review and pre-testing (n = 20). Construct validity was assessed by comparing the FMS with the classifications of Hoffer and Schoenmakers (n = 40). Intra-rater reliability was assessed by comparing the ratings of 14 caregivers, on two occasions. Kendall's tau correlation coefficient was used to test the construct validity of the FMS, while the kappa coefficient was used to test intra-rater reliability. RESULTS: Caregivers reported no difficulties with completing the FMS in Brazilian Portuguese. Construct validity tests showed positive correlations between the distances of 5 m (house), 50 m (school) and 500 m (community) in the FMS and the classifications of Hoffer (τ = 0.84; τ = 0.90; τ = 0.68; p < 0.01) and Schoenmakers (τ = 0.83; τ = 0.89; τ = 0.76; p < 0.01), respectively. Excellent intra-rater reliability (kappa = 0.9-1.0) was found for all three distances in the FMS. CONCLUSIONS: The FMS in Brazilian Portuguese showed acceptable intra-rater reliability and construct validity when used to measure the mobility level of patients with SB. We recommend its use in clinical practice and research.Implications for RehabilitationA valid and reliable instrument for assessing the mobility of patients with SB;A cross-cultural and adapted FMS in Brazilian Portuguese;An instrument for therapeutic and functional approaches outside the clinicalsetting;The FMS in the Brazilian Portuguese online version shows mistranslations.

Cardiopulmonary exercise testing in neuromuscular disease: a systematic review.

INTRODUCTION: Cardiopulmonary exercise testing (CPET) is increasingly used to determine aerobic fitness in health and disability conditions. Patients with neuromuscular diseases (NMDs) often present with symptoms of cardiac and/or skeletal muscle dysfunction and fatigue that might impede the ability to deliver maximal cardiopulmonary effort. Although an increasing number of studies report on NMDs' physical fitness, the applicability of CPET remains largely unknown. AREAS COVERED: This systematic review synthesized evidence about the quality and feasibility of CPET in NMDs and patient's aerobic fitness. The review followed the PRISMA guidelines (PROSPERO number CRD42020211068). Between September and October 2020 one independent reviewer searched the PubMed/MEDLINE, EMBASE, SCOPUS, and Web of Science databases. Excluding reviews and protocol description articles without baseline data, all study designs using CPET to assess adult or pediatric patients with NMDs were included. The methodological quality was assessed according to the American Thoracic Society/American College of Chest Physicians (ATS/ACCP) recommendations. EXPERT OPINION: CPET is feasible for ambulatory patients with NMDs when their functional level and the exercise modality are taken into account. However, there is still a vast potential for standardizing and designing disease-specific CPET protocols for patients with NMDs. Moreover, future studies are urged to follow the ATS/ACCP recommendations.

Cardiac Autonomic Modulation of Heart Rate Recovery in Children with Spina Bifida.

We aimed to analyse cardiac autonomic control by assessing the post-exercise heart rate recovery (HRR) and physical fitness in children and adolescents with spina bifida (SB), compared to participants with typical development. A total of 124 participants, 42 with spina bifida (SB group) and 82 typical developmental controls (CO group) performed the arm cranking exercise test with a gas analysis system. HRR was determined at the first (HRR_1) and second (HRR_2) minute at recovery phase. Data are shown as [mean difference (95% CI)]. The SB group showed reduced HR reserve [14.5 (7.1-22.0) bmp, P<0.01], slower HRR_1 [12.4 (7.4-17.5) bpm, P<0.01] and HRR_2 [16.3 (10.6-21.9) bpm; P<0.01], lower VO2peak [VO2peak relative: 7.3 (4.2-10.3) mL·min-1·kg-1, P<0.01; VO2peak absolute: 0.42 (0.30-0.54) L·min-1, P<0.01], and lower O2 pulse [2.5 (1.8-3.2) mL·bpm, P<0.01] and ventilatory responses [13.5 (8.8-18.1) L·min-1, P<0.01] than the CO group. VE/VO2 was not different between groups [-2.82 (-5.77- -0.12); P=0.06], but the VE/VCO2 [-2.59 (-4.40-0.78); P<0.01] and the values of the anaerobic threshold corrected by body mass [-3.2 (-5.8- -0.6) mL·min-1·kg-1, P=0.01] were higher in the SB group than in the CO group. We concluded that children and adolescents with SB have reduced physical fitness and a slower HRR response after maximal effort.

Instruments to assess upper-limb function in children and adolescents with neuromuscular diseases: a systematic review.

AIM: To synthesize clinical and scientific evidence regarding the instruments available to assess upper-limb function in paediatric patients with neuromuscular disease (NMD). METHOD: This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines (Prospective Registry of Systematic Reviews no. CRD42020140343). Two independent reviewers searched the PubMed/MEDLINE, LILACS, Embase, and Scopus databases. Inclusion criteria were cross-sectional or longitudinal studies or randomized controlled trials that used scales or questionnaires to assess upper-limb function in paediatric patients with NMDs. The COSMIN Risk of Bias checklist and criteria for good measurement properties were applied to assess the methodological quality of the instruments. RESULTS: In total, 34 articles and 12 instruments were included. The Brooke Upper Extremity (n=16) and Performance of Upper Limb (PUL) (n=12) instruments were the most used tools. The PUL and Duchenne muscular dystrophy (DMD) Upper Limb patient-reported outcome measures (PROMs) tested more measurement properties and provided higher methodological quality scores for patients with DMD. Likewise, the Revised Upper Limb Module (RULM) was the most suitable instrument for patients with spinal muscular atrophy. No instrument has been devised to assess upper-limb function in patients with Charcot-Marie-Tooth disease and no other disease-specific instruments were found. INTERPRETATION: The PUL, DMD Upper Limb PROM, and RULM are the most suitable instruments to assess upper-limb function in the two most prevalent paediatric NMDs. The identified gaps and methodological flaws of the available instruments indicate a need to develop high-quality instruments to assess other types of paediatric NMDs. What this paper adds The most suitable observer-rater instrument to assess upper-limb function in Duchenne muscular dystrophy (DMD) is the Performance of Upper Limb. The most suitable observer-rater instrument to assess upper-limb function in spinal muscular atrophy is the Revised Upper Limb Module. The DMD Upper Limb patient-reported outcome measure is recommended to assess the upper-limb performance of patients with DMD. Literature gaps and methodological flaws indicate the need to develop high-quality instruments to assess other types of paediatric neuromuscular disease.

Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease.

BACKGROUND: The dynamic plantar pressure patterns of children and adolescents with Charcot-Marie-Tooth (CMT) disease and its relationship to musculoskeletal alterations may help to understand the natural history of the disease and improve therapeutic interventions. RESEARCH QUESTION: The study compared dynamic plantar pressure patterns in children and adolescents with and without CMT. It also tested the associations between isometric muscle strength (IMS), passive range of motion (ROM), foot posture and dynamic plantar pressure patterns in CMT. METHODS: This cross-sectional study compared children and adolescents (aged 8-18 years) with CMT (n = 40) with a typical group (n = 40). The plantar pressure distribution during gait was recorded, and the contact area (CA), peak pressure (PP), contact time (CT) and pressure-time integral (PTI) in five foot regions (rearfoot, midfoot lateral, midfoot medial, lateral forefoot and medial forefoot) were analysed. The IMS of the dorsiflexors and plantar flexors, passive ROM, and foot posture were also recorded. RESULTS: PP (medial midfoot and medial forefoot) and PTI (rearfoot, lateral midfoot and medial forefoot) were higher in children with CMT compared with the typical group. The adolescents with CMT presented a less CA (whole foot) and a higher CT (medial midfoot) when compared with typical group. For CMT, in the medial midfoot, plantar flexor IMS associated with PP (ß=-11.54, p = 0.01) and PTI (ß=-3.38, p = 0.04); supinated foot posture associated with PP (ß = 33.89, p = 0.03) and PTI (ß = 12.01, p = 0.03). SIGNIFICANCE: Children with CMT showed clear changes in most of the dynamic plantar pressure variables, while adolescents with CMT showed changes mostly in CA and CT. This information together with the associations established between supinated foot, dorsiflexion ROM and plantar flexions IMS can be useful for guiding rehabilitation professionals in their therapies.