Children with idiopathic toe walking display differences in lower limb joint ranges and strength compared to peers: a case control study.

Background: Idiopathic toe walking (ITW) is an exclusionary diagnosis. There has been limited exploration of lower limb active range of motion and strength measures in children with ITW. This researched aimed to determine any differences in lower limb muscle active range of motion and strength in children who have ITW, compared to normative data collected from children who displayed typical gait.

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.

With therapeutic trials on the horizon for Charcot-Marie-Tooth type 1A (CMT1A), reliable, valid, and responsive clinical outcome assessments and biomarkers are essential. Accelerate Clinical Trials in CMT (ACT-CMT) is an international study designed to address important gaps in CMT1A clinical trial readiness including the lack of a validated, responsive functional outcome measure for adults, and a lack of validated biomarkers for multicenter application in clinical trials in CMT1A. The primary aims of ACT-CMT include validation of the Charcot-Marie-Tooth Functional Outcome Measure, magnetic resonance imaging of intramuscular fat accumulation as a lower limb motor biomarker, and reflectance confocal microscopy of Meissner corpuscle sensory receptor density, a sensory biomarker.

Replicating and redesigning ankle-foot orthoses with 3D printing for children with Charcot-Marie-Tooth disease.

Background: Children with the most common inherited neuropathy, Charcot-Marie-Tooth disease (CMT), are often prescribed ankle-foot orthoses (AFOs) to improve walking ability and prevent falls by reducing foot drop, postural instability, and other gait impairments. These externally worn assistive devices are traditionally custom-made using thermoplastic vacuum forming. This labour-intensive manufacturing process often results in AFOs which are cumbersome due to limited design options, and are associated with low acceptability, discomfort, and suboptimal impact on gait.

Digital mapping of a manual fabrication method for paediatric ankle-foot orthoses.

Ankle-foot orthoses (AFOs) are devices prescribed to improve mobility in people with neuromuscular disorders. Traditionally, AFOs are manually fabricated by an orthotist based on a plaster impression of the lower leg which is modified to correct for impairments. This study aimed to digitally analyse this manual modification process, an important first step in understanding the craftsmanship of AFO fabrication to inform the digital workflows (i.

Multidimensional Effects of Solid and Hinged Ankle-Foot Orthosis in Children With Cerebral Palsy.

Purpose: To compare the effect of solid (SAFO) and hinged (HAFO) ankle-foot orthoses in children with cerebral palsy spastic diplegia and true equinus and jump gait.

Methods: Participants were 26 children (13 wore SAFO and 13 wore HAFO) aged 4 to 14 years classified as Gross Motor Function Classification System levels I to III. Children were tested on standardized measures of body structure and function, activity, and participation.

Neuromuscular rehabilitation - what to do?

Purpose Of Review: Rehabilitation for patients with neuromuscular disorders (NMDs) has undisputed health benefits and is potentially therapeutic for targeting impairments, improving quality of life, and enabling activities of daily living. Whilst rehabilitation is commonly prescribed, unequivocal evidence and disease-related guidelines are lacking. This review highlights recent studies of exercise, assistive devices, respiratory management and manual therapy and stretching for patients with NMDs.

L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.

Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. The aim of this study is to examine whether daily L-carnitine supplementation is safe and feasible, and will improve muscle strength and reduce fatigue in children with NF1.

Interventions for promoting physical activity in people with neuromuscular disease.

Background: The World Health Organization (WHO) recommends that people of all ages take regular and adequate physical activity. If unable to meet the recommendations due to health conditions, international guidance advises being as physically active as possible. Evidence from community interventions of physical activity indicate that people living with medical conditions are sometimes excluded from participation in studies.

Non-drug therapies for the secondary prevention of lower limb muscle cramps.

Background: Lower limb muscle cramps are common and painful. They can limit exercise participation, and reduce quality of sleep, and quality of life. Many interventions are available for lower limb cramps; some are controversial or could cause harm, and often, people experience no benefit from the interventions used.

First experimental evaluation of multi-target multileaf collimator tracking during volumetric modulated arc therapy for locally advanced prostate cancer.

Purpose: Locally advanced and oligometastatic cancer patients require radiotherapy treatment to multiple independently moving targets. There is no existing commercial solution that can simultaneously track and treat multiple targets. This study experimentally implemented and evaluated a real-time multi-target tracking system for locally advanced prostate cancer.

Everyday Life Participation Using Powered Wheelchair Standing Devices by Boys With DMD.

Powered wheelchair standing devices (PWSDs) allow supported standing for activity; however, little is known about their use. To understand factors affecting use of supported standing for participation among boys with Duchenne muscular dystrophy (DMD) and characteristics of successful users, we gathered data over 7 days from boys who had used PWSDs for 24 months, using a smartphone application. We used descriptive statistics to identify factors that affected their participation.

Content analysis of child user and carer perspectives of ankle-foot orthoses.

Background: The evaluation of ankle-foot orthoses is primarily focused on biomechanical performance, with comparatively less studies pertaining to users' quality of life and experiential factors.

Objectives: To investigate how child users regard acquisition and use of ankle-foot orthoses through the perspectives of child users, parents/carers and practitioners.

Study Design: Inductive content analysis of secondary data.

The impact of being overweight on the mobility, temporal-spatial and kinematic aspects of gait in children with cerebral palsy.

Aim: Obesity causes altered gait patterns in typically developing children, but its effect on gait in children with physical disabilities is largely unknown. This study explores associations between body mass index (BMI), functional mobility and gait in children with cerebral palsy (CP).

Method: An observational cross-sectional study was conducted using three-dimensional gait analysis data from 197 children with CP, Gross Motor Functional Classification System (GMFCS) levels I to III.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of CMT, with significant allelic heterogeneity. Previous, moderately-sized, cross sectional genotype-phenotype studies of CMT2A have described the phenotypic spectrum of the disease, but longitudinal natural history studies are lacking.

Comparison of 3D scanning versus traditional methods of capturing foot and ankle morphology for the fabrication of orthoses: a systematic review.

Background: In the production of ankle-foot orthoses and in-shoe foot orthoses, lower leg morphology is traditionally captured using a plaster cast or foam impression box. Plaster-based processes are a time-consuming and labour-intensive fabrication method. 3D scanning is a promising alternative, however how these new technologies compare with traditional methods is unclear.

Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.

Introduction: Emerging evidence indicates that rehabilitation can improve ataxia, mobility and independence in everyday activities in individuals with hereditary cerebellar ataxia. However, with the rarity of the genetic ataxias and known recruitment challenges in rehabilitation trials, most studies have been underpowered, non-randomised or non-controlled. This study will be the first, appropriately powered randomised controlled trial to examine the efficacy of an outpatient and home-based rehabilitation programme on improving motor function for individuals with hereditary cerebellar ataxia.

Is health professional education making the most of the idea of 'students as partners'? Insights from a qualitative research synthesis.

Students as partners is a movement which is gaining momentum in higher education, yet disciplinary perspectives are underexplored. Using a qualitative synthesis approach informed by Major and Savin-Baden (2010), we systematically investigated how health professional education has taken up the practice of working in partnership with students. Fifty-five publications were identified in our search from 2011 to -mid 2018.

Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.

Objective: To describe the clinical, genetic, and disability profile of pediatric distal hereditary motor neuropathy (dHMN) and to determine the utility of an outcome measure validated for children with Charcot-Marie-Tooth disease (CMT) in assessing disability in this cohort.

Methods: We reviewed the clinical, neurophysiologic, and disability data on individuals with dHMN, evaluated before the age of 20 years, at 2 tertiary neuromuscular clinics in Australia and Spain. Disability was assessed annually with the CMT Pediatric Scale (CMTPedS) in a subset of individuals.

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.

Relationship Between Disease Specific Quality of Life Measures, Physical Performance, and Activity in People with Intermittent Claudication Caused by Peripheral Artery Disease.

Objective: The aims of this study were firstly to assess the correlation between disease specific measures of quality of life (QOL) and physical performance and activity, and secondly to identify demographic, clinical, functional, and physical activity measures independently associated with QOL in people with intermittent claudication.

Methods: This was a cross sectional observational study of 198 people with intermittent claudication caused by peripheral artery disease who were recruited prospectively. QOL was assessed with the intermittent claudication questionnaire (ICQ) and the eight-theme peripheral artery disease quality of life questionnaire.