Pilot study of a virtual weight management program for Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Young people with Duchenne muscular dystrophy (DMD) are at increased risk of obesity. Weight management is important to families; however, several barriers exist. This pilot study aimed to investigate the feasibility and acceptability of a co-designed weight management program for DMD. METHODS: The Supporting Nutrition and Optimizing Wellbeing Program (SNOW-P) was a single-arm diet and behavior weight management intervention delivered via weekly telehealth/phone visits over 6 weeks to young people with DMD and obesity (body mass index (BMI) ≥95th percentile) and their caregivers. Using an online survey, caregivers of boys with DMD were consulted on the structure and topics delivered in SNOW-P. Primary outcomes were feasibility and acceptability; secondary outcomes were weight, physical function, and quality of life at 6- and 12-weeks follow-up. RESULTS: Of nineteen eligible participants, eight were enrolled (median age 11.4 years, range 4.9-15.8), and seven completed the program. Visit attendance was high (88%-100%); most participants reported high satisfaction and that participation was easy. Suggested changes included online and visual DMD-specific resources. At 6-weeks, median change in weight z-scores was -0.01 (IQR: -0.23, 0.17) indicating that on average, weight gain tracked as expected for age. Waist circumference measured by caregivers lacked accuracy and the completion rate of caregiver-reported secondary outcome measures (e.g., food diaries) was low. DISCUSSION: A co-designed, telehealth/phone weight management program appeared to be feasible and acceptable in a small group of boys with DMD. An adapted, hybrid telehealth and face-to-face program is recommended for efficacy testing.

Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Obesity disproportionately affects children and adolescents with Duchenne muscular dystrophy (DMD) and with adverse consequences for disease progression. This study aims to: explore barriers, enablers, attitudes, and beliefs about nutrition and weight management; and to obtain caregiver preferences for the design of a weight management program for DMD. METHODS: We surveyed caregivers of young people with DMD from four Australian pediatric neuromuscular clinics. Survey questions were informed by the Theoretical Domains Framework and purposefully designed to explore barriers and enablers to food and weight management. Caregivers were asked to identify their preferred features in a weight management program for families living with DMD. RESULTS: Fifty-three caregivers completed the survey. Almost half (48%) perceived their son as above healthy weight. Consequences for those children were perceived to be self-consciousness (71%), a negative impact on self-esteem (64%) and movement (57%). Preventing weight gain was a common reason for providing healthy food and healthy eating was a high priority for families. Barriers to that intention included: time constraints, selective food preferences, and insufficient nutrition information. Caregivers preferred an intensive six-week weight management program addressing appetite management and screen time. DISCUSSION: Managing weight is an important issue for caregivers of sons with DMD; yet several barriers exist. Individualized 6 week programs are preferred by caregivers to improve weight management for DMD.

Getting Wheels: development and evaluation of a psychoeducational resource for parents of children with a neuromuscular condition following recommendation of wheelchair equipment.

PURPOSE: Access to credible information can facilitate parental engagement in wheelchair prescription for their child with a neuromuscular condition (NMC). In this study, we developed and evaluated acceptability, perceived usefulness and emotional responses to a psychoeducational booklet for parents of children with a NMC. METHODS: Australian parents of children who had been recommended a wheelchair and clinicians caring for children with NMCs were invited to evaluate the booklet, Getting Wheels. The booklet included 11 chapters, each covering distinct aspects of wheelchair prescription and supportive care. Participants completed one online survey including validated and study-specific measures. RESULTS: Twenty-seven parents (71% response rate, 78% mothers) and nine clinicians (90% response rate, 89% women) participated. All parents endorsed the booklet as addressing their information and support needs, and 93% agreed it would help parents engage in the wheelchair prescription process. All clinicians endorsed the booklet as addressing parents' information and support needs and agreed they could use the booklet in clinical practice. CONCLUSIONS: Parents and clinicians rate Getting Wheels as acceptable for use in the context of wheelchair recommendation for children with a neuromuscular condition. Next steps include prospective examination of booklet use in clinical practice and adaptation to culturally and linguistically diverse populations.Implications for rehabilitationThe co-designed "Getting Wheels" booklet provides tailored information for use in the context of wheelchair recommendation for children with a neuromuscular condition.The emotions elicited throughout wheelchair prescription endorse the need for integrated psychosocial multidisciplinary care to improve access and support the ongoing emotional needs of this population.Parents of children who receive wheelchair recommendation between zero and two years require greater support from clinicians regarding their thoughts and feelings about wheelchair prescription.Parents of children with a neuromuscular condition and treating clinicians support provision of a tailored psychoeducational resource when a child is recommended a wheelchair.

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of PMP22, is the most common hereditary peripheral neuropathy. For participants with CMT1A, few clinical trials have been performed; however, multiple therapies have reached an advanced stage of preclinical development. In preparation for imminent clinical trials in participants with CMT1A, we have produced a Clinical Outcome Assessment (COA), known as the CMT-Functional Outcome Measure (CMT-FOM), in accordance with the FDA Roadmap to Patient-Focused Outcome Measurement to capture the key clinical end point of function. METHODS: Participants were recruited through CMT clinics in the United States (n = 130), the United Kingdom (n = 52), and Italy (n = 32). To derive the most accurate signal with the fewest items to identify a therapeutic response, a series of validation studies were conducted including item and factor analysis, Rasch model analysis and testing of interrater reliability, discriminative ability, and convergent validity. RESULTS: A total of 214 participants aged 18-75 years with CMT1A (58% female) were included in this study. Item, factor, and Rasch analysis supported the viability of the 12-item CMT-FOM as a unidimensional interval scale of function in adults with CMT1A. The CMT-FOM covers strength, upper and lower limb function, balance, and mobility. The 0-100 point scoring system showed good overall model fit, no evidence of misfitting items, and no person misfit, and it was well targeted for adults with CMT1A exhibiting high inter-rater reliability across a range of clinical settings and evaluators. The CMT-FOM was significantly correlated with the CMT Examination Score (r = 0.643; p < 0.001) and the Overall Neuropathy Limitation Scale (r = 0.516; p < 0.001). Significantly higher CMT-FOM total scores were observed in participants self-reporting daily trips and falls, unsteady ankles, hand tremor, and hand weakness (p < 0.05). DISCUSSION: The CMT-FOM is a psychometrically robust multi-item, unidimensional, disease-specific COA covering strength, upper and lower limb function, balance, and mobility to capture how participants with CMT1A function to identify therapeutic efficacy.

Conservative management of hand impairment in children and adolescents with heritable disorders of connective tissue: A scoping review.

AIMS: To synthesize and critically appraise available interventions in the conservative management of hand impairment for children and adolescents with heritable disorders of connective tissue (HDCT). METHODS: A search of peer-reviewed literature and online platforms were included with data regarding hand impairment and function, conservative management and outcome measures extracted and appraised. Levels of evidence were applied to published literature. RESULTS: Ten peer-reviewed papers, eleven webpages and YouTube videos met the inclusion criteria. Reported interventions included: strengthening, orthoses, assistive equipment, education and pacing. Evidence of intervention effectiveness and evidence-based guidance on dosage were absent, with no consistency of outcome measures monitoring intervention effectiveness. Online platforms posted by health professionals predominantly provided advice for families without clinical detail of interventions. CONCLUSIONS: There is a consistent suite of interventions identified in both peer-reviewed literature and online platforms used by clinicians and families to manage hand impairment for children and adolescents with HDCT. Clear dosage parameters and outcome measures are needed in future intervention studies to determine the effectiveness of interventions and guide clinicians in how best to treat hand impairment. Increasing accountability and quality of online resources posted by health professionals for families is warranted to ensure dosage details and precautions are provided.

Proxy-reported sensory measures for children and adolescents with neurodevelopmental disorders: A systematic review.

AIM: To determine the quality and utility of proxy-reported sensory measures for children and adolescents with neurodevelopmental disorders (such as autism spectrum disorder, attention-deficit/hyperactivity disorder, movement disorders, and intellectual disability). METHOD: We systematically searched 11 databases. We applied the updated Consensus-based Standards for the selection of health Measurement INstruments (COSMIN) Risk of Bias checklist and criteria for good measurement properties to evaluate instrument development and psychometric properties. Findings were summarized using a COSMIN adaptation of Grading of Recommendations, Assessment, Development and Evaluations. RESULTS: From 11 databases, 6748 articles were screened. Ninety-one full-length articles were reviewed after removing excluded studies and manual searches conducted by two reviewers. Data were extracted for 12 measures from 20 articles. Of the 12 measures, only three provided sufficient data to evaluate content validity and psychometric measurement properties. The Participation and Sensory Environment Questionnaire-Home (PSEQ-H) was the only measure that satisfied moderate content validity and moderate-to-high quality for measurement properties. These properties included: structural validity, hypothesis testing for construct validity, internal consistency, reliability, and measurement error. INTERPRETATION: One measure, the PSEQ-H, met eight criteria for good measurement properties. To facilitate evidence-informed clinical decision-making, all psychometric properties of all 12 sensory-based, proxy-reported measures were presented. The importance of consumer engagement in measure development and the need for ongoing evaluation of measures against contemporaneous standards is recommended. WHAT THIS PAPER ADDS: Three measures provided studies on content validity and psychometric measurement properties. The Participation and Sensory Environment Questionnaire-Home had moderate quality for content validity studies and high-to-moderate quality evidence for psychometric properties. The Participation and Sensory Environment Questionnaire was the only measure that included consumer involvement through qualitative interviews and pilot testing. Consumer involvement in measure development is important for content validity. Ongoing evaluation of measures against contemporaneous standards is recommended.

Multidisciplinary perspectives and practices of wheelchair prescription for children with neuromuscular conditions.

PURPOSE: Clinical practice guidelines for paediatric neuromuscular disorders (NMDs) recommend timely provision of wheelchair equipment. The aim of this qualitative study was to understand healthcare professionals' clinical perspectives and practices when recommending wheelchair equipment for the first time, as well as perceived barriers and enablers to timely wheelchair provision. METHODS: Twenty-one healthcare professionals (HCPs) from Australia and the United States participated in an interview (response rate: 88%, 16/21 women). Participants were from diverse disciplines, based in hospital or community health settings, and had at least one year of experience working in paediatric neuromuscular care. RESULTS: Child fatigue, falls and engagement in age-appropriate activity were common reasons for HCP's wheelchair recommendation. HCPs were acutely aware of parents' experiences of grief and loss throughout the wheelchair prescription process, and over half acknowledged the lack of psychological care available to families affected by NMDs. Multi-disciplinary collaboration, psychologically-informed care, and shared decision-making with stakeholders were perceived enablers of wheelchair transition. Barriers included limited access to equipment, lengthy funding processes and lack of funding for home and vehicle modifications. CONCLUSIONS: Integrated psychosocial care is needed to support families throughout their child's disease progression, including wheelchair transition. Implementation of readiness for change tools, and development of tailored informational resources is recommended. Improved access to equipment options and trials, and more efficient funding processes are highly likely to improve parental engagement throughout the wheelchair prescription process.Implications for rehabilitationHealthcare professionals express a strong demand for integrated psychosocial care within paediatric neuromuscular clinics to support families throughout transitions, including wheelchair introduction.Identifying parents' readiness for change can inform their information and support needs, strengthen their decision-making capacity and facilitate timely wheelchair introduction.Stronger collaboration between hospital- and community-based health professionals working in paediatric neuromuscular care is recommended to facilitate knowledge exchange and support families' transition to wheelchair use.Access to equipment options for extended loan or trial in the community can support timely wheelchair introduction.

Hand Impairment and Function in Children and Adolescents With Heritable Disorders of Connective Tissue.

IMPORTANCE: Heritable disorders of connective tissue (HDCTs) affect hand function and participation in daily activities for children and adolescents. OBJECTIVE: To describe hand impairment and function and determine the extent to which hand impairment and function explain the variation in self-reported functional performance. DESIGN: Cross-sectional observational study. SETTING: Specialist tertiary hospital. PARTICIPANTS: Children and adolescents ages 8-18 yr with HDCTs (N = 73). INTERVENTION: None. OUTCOMES AND MEASURES: Hand function outcomes included grip strength (digital dynamometer), manipulation and dexterity (Functional Dexterity Test, Nine-Hole Peg Test), and fine motor skills (Bruininks-Oseretsky Test of Motor Proficiency). Upper limb hypermobility was assessed using the Upper Limb Hypermobility Assessment Tool. Hand pain and fatigue were recorded for a timed button test and 3- and 9-min handwriting tasks. Functional performance was measured using the Childhood Health Assessment Questionnaire. RESULTS: Scores on all hand function measures were below expected norms. Pain and fatigue were significantly worse after the writing tasks (p < .001) but not the button test (p > .40). Secondary students had significantly lower handwriting scores than primary students (p = .03) but similar grip strength z scores (p = .95). Variation in self-reported functional performance was explained by grip strength (6%) and upper limb hypermobility and dexterity (16%). CONCLUSIONS AND RELEVANCE: Young people with HDCTs have poor hand function attributable to poor grip strength and hand pain and fatigue. Comprehensive upper limb evaluation and ongoing monitoring throughout the school years are warranted to inform timely intervention. What This Article Adds: Children and adolescents with heritable disorders of connective tissue have difficulty with hand function that affect their participation in daily activities. The results of this study can help clinicians identify, assess, and monitor daily activities, performance skills, and symptoms of children and adolescents with HDCTs to promote their participation in all aspects of daily life.

Clinical applications of machine learning in predicting 3D shapes of the human body: a systematic review.

BACKGROUND: Predicting morphological changes to anatomical structures from 3D shapes such as blood vessels or appearance of the face is a growing interest to clinicians. Machine learning (ML) has had great success driving predictions in 2D, however, methods suitable for 3D shapes are unclear and the use cases unknown. OBJECTIVE AND METHODS: This systematic review aims to identify the clinical implementation of 3D shape prediction and ML workflows. Ovid-MEDLINE, Embase, Scopus and Web of Science were searched until 28th March 2022. RESULTS: 13,754 articles were identified, with 12 studies meeting final inclusion criteria. These studies involved prediction of the face, head, aorta, forearm, and breast, with most aiming to visualize shape changes after surgical interventions. ML algorithms identified were regressions (67%), artificial neural networks (25%), and principal component analysis (8%). Meta-analysis was not feasible due to the heterogeneity of the outcomes. CONCLUSION: 3D shape prediction is a nascent but growing area of research in medicine. This review revealed the feasibility of predicting 3D shapes using ML clinically, which could play an important role for clinician-patient visualization and communication. However, all studies were early phase and there were inconsistent language and reporting. Future work could develop guidelines for publication and promote open sharing of source code.

COVID-19 in New South Wales children during 2021: severity and clinical spectrum.

OBJECTIVES: To describe the severity and clinical spectrum of coronavirus disease 2019 (COVID-19) in children during the 2021 New South Wales outbreak of the Delta variant of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). DESIGN, SETTING: Prospective cohort study in three metropolitan Sydney local health districts, 1 June - 31 October 2021. PARTICIPANTS: Children under 16 years of age with positive SARS-CoV-2 nucleic acid test results admitted to hospital or managed by the Sydney Children's Hospital Network (SCHN) virtual care team. MAIN OUTCOME MEASURES: Age-specific SARS-CoV-2 infection frequency, overall and separately for SCHN virtual and hospital patients; rates of medical and social reason admissions, intensive care admissions, and paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 per 100 SARS-CoV-2 infections; demographic and clinical factors that influenced likelihood of hospital admission. RESULTS: A total of 17 474 SARS-CoV-2 infections in children under 16 were recorded in NSW, of whom 11 985 (68.6%) received SCHN-coordinated care, including 459 admitted to SCHN hospitals: 165 for medical reasons (1.38 [95% CI, 1.17-1.59] per 100 infections), including 15 admitted to intensive care, and 294 (under 18 years of age) for social reasons (2.45 [95% CI, 2.18-2.73] per 100 infections). In an analysis that included all children admitted to hospital and a random sample of those managed by the virtual team, having another medical condition (adjusted odds ratio [aOR], 7.42; 95% CI, 3.08-19.3) was associated with increased likelihood of medical admission; in univariate analyses, non-asthmatic chronic respiratory disease was associated with greater (OR, 9.21; 95% CI, 1.61-174) and asthma/viral induced wheeze with lower likelihood of admission (OR, 0.38; 95% CI, 0.18-0.78). The likelihood of admission for medical reasons declined from infancy to 5-11 years, but rose again for those aged 12-15 years. Sex and Indigenous status did not influence the likelihood of admission. CONCLUSION: Most SARS-CoV-2 infections (Delta variant) in children were asymptomatic or associated with mild disease. Hospitalisation was relatively infrequent, and most common for infants, adolescents, and children with other medical conditions. More children were hospitalised for social than for medical reasons.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.

BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. Guidelines for the optimal management of common problems experienced by individuals with CMT do not exist, for either children or adults. We formed the Paediatric CMT Best Practice Guidelines Consortium to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT, with the primary objective of promoting optimal, standardised care globally. METHODS: Development of this clinical practice guideline involved a series of systematic reviews covering 10 clinical questions, modified Delphi methodology involving an international panel of clinicians to generate consensus where evidence did not exist, and application of the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach to evaluate the body of literature and formulate recommendations. RESULTS: The final guideline includes three evidence-based and 31 consensus-based recommendations. They encompass the management of muscle weakness, balance and mobility impairment, sensory symptoms, muscle cramps, impaired upper limb function, respiratory impairment, maintenance of joint range of motion and non-surgical management of joint deformity. Consensus was not achieved in some management areas, reflecting differences in practice between clinicians and healthcare settings, and highlighting the need for further research. CONCLUSIONS: This clinical practice guideline provides practical and implementable guidance on the management of common clinical problems experienced by children with CMT and advocates for improved access to multidisciplinary care. Successful dissemination and implementation of these recommendations will be critical in ensuring their application across multiple healthcare settings.

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. A 12-week Phase 2a trial was conducted using 1000 mg daily oral levocarnitine tartrate supplementation. Recruited children were between 8 and 12 years old with a clinical diagnosis of NF1, history of muscle weakness and fatigue, and naïve to L-carnitine. Primary outcomes were safety (self-reporting, biochemical testing) and compliance. Secondary outcomes included plasma acylcarnitine profiles, functional measures (muscle strength, long jump, handwriting speed, 6-minute-walk test [6MWT]), and parent-reported questionnaires (PedsQL™, CBCL/6-18). Six children completed the trial with no self-reported adverse events. Biochemical tests for kidney and liver function were normal, and the average compliance was 95%. Plasma acylcarnitine levels were low, but within a range not clinically linked to carnitine deficiency. For strength measures, there was a mean 53% increase in dorsiflexion strength (95% confidence interval [CI] 8.89-60.75; p = 0.02) and mean 66% increase in plantarflexion strength (95% CI 12.99-134.1; p = 0.03). In terms of muscle performance, there was a mean 10% increase in long jump distance (95% CI 2.97-16.03; p = 0.01) and 6MWT distance (95% CI 5.88-75.45; p = 0.03). Comparison with the 1000 Norms Project data showed a significant improvement in Z-score for all of these measures. Parent reports showed no negative impact on quality of life, and the perceived benefits led to the majority of individuals remaining on L-carnitine after the study. Twelve weeks of L-carnitine supplementation is safe and feasible in children with NF1, and a Phase 3 trial should confirm the efficacy of treatment.

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. Physical/social engagement and independence were motivators for standing in PWSDs. Enablers included positive attitudinal/social environments. Barriers included pain during supported standing and lack of physical environment accessibility. The characteristics of successful users were identified. Supported standing via PWSDs has potential to improve participation for boys with DMD. The disease stage, individual personal factors and environmental supports impact on use. Therapists should carefully consider and manage factors that impact on uptake and sustainability of use.

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. The aim of this systematic review was to compare the speed, accuracy and reliability of 3D scanning with traditional methods of capturing foot and ankle morphology for fabricating orthoses. METHODS: PRISMA guidelines were followed and electronic databases were searched to March 2020 using keywords related to 3D scanning technologies and traditional foot and ankle morphology capture methods. Studies of any design from healthy or clinical populations of any age and gender were eligible for inclusion. Studies must have compared 3D scanning to another form of capturing morphology of the foot and/or ankle. Data relating to speed, accuracy and reliability as well as study design, 3D scanner specifications and comparative capture techniques were extracted by two authors (M.F. and Z.W.). Study quality was assessed using the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) and Consensus-Based Standards for the Selection of Health Measurement Instruments (COSMIN). RESULTS: Six articles met the inclusion criteria, whereby 3D scanning was compared to five traditional methods (plaster cast, foam impression box, ink footprint, digital footprint and clinical assessment). The quality of study outcomes was rated low to moderate (GRADE) and doubtful to adequate (COSMIN). Compared to traditional methods, 3D scanning appeared to be faster than casting (2 to 11 min vs 11 to 16 min). Inter-rater reliability (ICC 0.18-0.99) and intra-rater reliability (ICCs 0.25-0.99) were highly variable for both 3D scanning and traditional techniques, with higher agreement generally dependent on the foot parameter measured. CONCLUSIONS: The quality and quantity of literature comparing the speed, accuracy and reliability of 3D scanning with traditional methods of capturing foot and ankle morphology is low. 3D scanning appears to be faster especially for experienced users, however accuracy and reliability between methods is variable.

Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives.

AIM: The aim of this study was to investigate parent perspectives on how heritable disorders of connective tissue (HDCT) affect a child's everyday life. In addition, this study aimed to determine if parents seeking health professional services perceive their children with HDCT to have difficulties with activities reliant on hand function. METHODS: This cross-sectional study used a questionnaire for parents to explore the impact of an HDCT on a child's ability to carry out everyday activities. Parents of children (8-18 years) attending a tertiary connective tissue dysplasia clinic, over a 12-month period, were invited to participate. RESULTS: We analysed 100 surveys completed by parents. Children with Ehlers-Danlos syndrome-hypermobile type, joint hypermobility syndrome (48%) and osteogenesis imperfecta (42%) were the largest diagnostic groups represented. Pain (73%) and fatigue (68%) were the most common symptoms parents perceived to affect day-to-day activities. More parents were satisfied with their child's self-care (61%) than school participation (33%). Keeping up with handwriting (71%) and gross motor activities (70%) were the most frequently reported difficulties at school. Most parents (65%) reported leisure activity difficulties, with pain (64%) and fatigue (60%) as the main contributing factors. CONCLUSIONS: This study has provided new knowledge about the concerns of parents with their child's engagement in everyday life including the impact of HDCT on hand function. Further research is needed on effective management strategies to reduce symptoms and improve hand function for these children.

Reliability of the Charcot-Marie-Tooth functional outcome measure.

The CMT-FOM is a 13-item clinical outcome assessment (COA) that measures physical ability in adults with Charcot-Marie-Tooth disease (CMT). Test-retest reliability, internal consistency and convergent validity have been established for the CMT-FOM. This current study sought to establish inter-rater reliability. Following an in-person training of six international clinical evaluators we recruited 10 participants with genetically diagnosed CMT1A, (aged 18-74 years, 6 female). Participants were evaluated using the CMT-FOM over 2 days. Participants were given at least a 3 hour rest between evaluations, and were assessed twice each day. Following the provision of training by master trainers, all 13 items of the CMT-FOM exhibited excellent inter-rater reliability for raw scores (ICC1,1 0.825-0.989) and z-scores (ICC1,1 0.762-0.969). Reliability of the CMT-FOM total score was excellent (ICC1,1 0.983, 95% CI 0.958-0.995). The CMT-FOM is a reliable COA used by clinical evaluators internationally. The next steps are to establish further validation through psychometric evaluation of the CMT-FOM in the Accelerate Clinical Trials in CMT (ACT-CMT) study.

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.

The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was to identify the most responsive patient subset(s), based on the standardized response mean (SRM), to optimize the CMTPedS as a primary outcome measure for upcoming clinical trials. Analysis was based on a 2-year natural history data from 187 children aged 3-20 years with a range of CMT genetic subtypes. Subsets based on age (3-8 years), disability level (CMTPedS score 0-14), and CMT type (CMT1A) increased the SRM of the CMTPedS considerably. Refining the inclusion criteria in clinical trials to younger, mildly affected cases of CMT1A optimizes the responsiveness of the CMTPedS.

"It's not just the wheelchair, it's everything else": Australian parents' perspectives of wheelchair prescription for children with neuromuscular disorders.

Purpose: Standards of care for neuromuscular disorders recommend timely provision of wheelchair equipment to support independent and spontaneous movement, age-appropriate participation, and psychological, social, cognitive and communication skills. Parental engagement is crucial to initiating wheelchair prescription. No studies have investigated parents' perceptions of this process or their experiences of their child's transition to wheelchair equipment.Methods: Seventeen families of children with a neuromuscular disorder who were recommended wheelchair equipment participated in an interview (response rate: 53%). Diagnoses included muscular dystrophies, spinal muscular atrophy, and congenital myopathy.Results: Findings showed that wheelchair prescription represented a milestone for parents in their child's disease progression. Parents described experiencing strong emotional responses, with the potential to eclipse pragmatic factors. Perceiving wheelchair equipment as an adjunct to their child's functioning and participation positively influenced parents' receptivity to wheelchair recommendation. Parents' receptivity to wheelchair recommendation was also influenced by their emotional experience, their child's weight-bearing ability and participation in age appropriate activities.Conclusions: Enablers to parental engagement in the wheelchair prescription process included timely psychological care and social support, a child- and family-centered approach to care, and ease of access to credible information. This study shows wheelchair prescription is a complex and multi-faceted process that represents more than just a piece of equipment to parents.Implications for rehabilitationParents experience a range of emotions and challenges as their child's neuromuscular condition progresses, including the introduction of a wheelchair.Anticipatory care and education from health professionals is required to support families' transition to wheelchair equipment.Facilitators to parents' engagement in wheelchair prescription include a family-centered approach, collaborative decision-making between families and health professionals, and access to information and psychosocial support.

The Development of Clinical Genomics and Genetics Within Healthcare: How Should the Allied Health Professions Respond?

Clinical genomics is becoming mainstream, providing personalized information that is relevant to clinical assessment, management, and decision-making on a patient-by-patient basis. This emphasis on personalized medicine has been featured in medical and nursing/midwifery entry-level curricula for some time. These curricula frameworks enable work-ready professionals to embrace genomics as part of standard care. The uptake of genomics across healthcare should also feature across the allied health professions worldwide. While some allied health professions are active in the research and clinical domains, there is, to our knowledge, scant evidence of a collective effort to bring genomics into mainstream allied health practice. It is suggested that the allied health professions need to recognize and embrace opportunities to collaborate with our colleagues in medicine, nursing/midwifery, and healthcare consumers to integrate genomics into and across allied health clinical practice. This includes: understanding what "genomics" is; recognizing who may benefit from genetic testing; the cultural, ethical, and legal implications of genomics in practice; and the potential to inform treatment decisions and/or justify referral. Discussion surrounding the integration of genomics competencies within the allied health professions is required to both enlighten and determine professional practice roles in response to this increasingly relevant element of healthcare delivery worldwide.