Development of the Brazilian version of the Performance of Upper Limb scale for children and adolescents with Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) is one of the most common and disabling childhood genetic diseases. The course of DMD involves progressive muscular degeneration and weakness, leading to functional decline. The Performance of the Upper Limb scale (PUL) is a specific instrument designed to assess the upper limb function of patients with DMD.

The impact of the pandemic on physical and functional disabilities in children and adolescents with spina bifida.

Study Design: Retrospective and cross-sectional study.

Objectives: The study aimed to carry out telemonitoring to identify the impact of the pandemic on physical and functional disabilities in children and adolescents with SB, as reported by their caregivers, and to investigate adherence to a teleservice.

Setting: Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP-USP).

A deficit to reach the isokinetic velocity in youth wheelchair users with spina bifida.

Introduction: The self-paced adopted by wheelchair users in their postural transfers and locomotion may require sufficient levels of speed-strength in the upper limbs. In clinical practice, we observed limited functional independence and social participation.

Objectives: This study aimed to investigate and compare the speed-strength relationship between wheelchair users with spina bifida (SB) and typically developing youth.

Estimation of standing height in spina bifida: model development and validation.

Objective: Childhood standing height has been estimated from arm span-related (height) models. The authors aimed to develop and cross-validate a height model in individuals with spina bifida (SB) and examine the accuracy of existing height models.

Methods: Participants were individuals with sacral and low-lumbar SB (n = 14) and non-SB (n = 83), 7-16 years old.

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.

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.

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 (RPE) and arms (RPE) in participants ( = 9, 10-17 years) with spina bifida.

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.

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).

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.

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.

Do different foot types affect the 6-min walk test capacity of younths with Charcot-Marie-Tooth neuropathy ?

Background: The present study aimed to assess the gait capacity of youths with Charcot Marie Tooth disease (CMT), considering the different foot postures as a grouping variable.  METHODS: The total distance, the predicted distance, and gait velocity obtained during the six-minute walking test (6MWT) were compared between participants with and without CMT. In addition, part of the CMT group completed a 12-month follow-up.

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.

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.

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 ( = 20). Construct validity was assessed by comparing the FMS with the classifications of Hoffer and Schoenmakers ( = 40).

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).

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.

Translation and cross-cultural adaptation of the Charcot-Marie-Tooth disease Pediatric Scale to Brazilian Portuguese and determination of its measurement properties.

Background: The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) has been used to measure aspects of disability in children with all types of Charcot-Marie-Tooth disease (CMT).

Objective: To translate and cross-culturally adapt the CMTPedS into Brazilian-Portuguese and determine its reliability and validity.

Methods: The translation and cross-cultural adaptation followed international guidelines recommendations.

The use of the gait profile score and gait variable score in individuals with Duchenne Muscular Dystrophy.

Therapeutic gait interventions for individuals with Duchenne Muscular Dystrophy (DMD) should be based on understanding how movement of the individual is affected and whether different clusters of individuals, determined by clinical severity, differ. Gait indexes have been developed to synthesize the data provided by the three-dimensional (3D) gait analysis such as the Gait Deviation Index (GDI) and the Gait Profile Score (GPS) where the gait variable score (GVS) can be calculated. The objective this study was to evaluate the potential use of the GDI and GPS and MAP using data from 3D gait analysis of DMD patients.