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A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening and the public acceptability of the program. This is particularly vital to ascertain as DMD is considered a 'non-treatable' disease and thus does not fit the traditional criteria for newborn screening. However, modern perspectives of NBS for DMD are changing and point to possible net benefits for children and their families undertaking NBS for DMD. The aim of this workshop was to establish pathways for the successful implementation and evaluation of a pilot NBS for DMD program in Australia. Consensus was reached as to the rationale for, potential benefits, risks, barriers and facilitators of screening, alongside the establishment of screening protocols and clinical referral pathways.

Aim Poorer physical and mental health often accompany loss of walking in Duchenne muscular dystrophy. This study assessed the impacts of powered wheelchair standing device (PWSD) use on muscle and joint pain, joint angles when standing and mental health in adolescents with Duchenne muscular dystrophy. Methods Fourteen adolescents and parents participated in a stepped wedge design study over 12 months. During a baseline and intervention period, adolescents described pain and mental health, and parents reported their child's mental health. Video data were collected to measure hip, knee and ankle joint angles in the preferred standing position. Results Compared with baseline and adjusting for covariates, standing wheelchair use was associated with no change in muscle or joint pain or videoed joint angles in standing. Child-reported Strengths and Difficulties total scores decreased (coefficient -3.1, 95% confidence interval -4.6, -1.5); and parent-reported Personal Adjustment and Role Skills Scale total scores increased (coefficient 7.9, 95% confidence interval 3.3-12.5). Conclusions PWSD use was associated with maintenance of musculoskeletal status and advantages to mental health. Long-term observations are necessary to improve understanding of how to support wellbeing in adolescents with Duchenne muscular dystrophy.

Duchenne muscular dystrophy is a common neuromuscular disorder involving progressive muscle weakness. A powered wheelchair standing device provides capacity to stand despite increasing muscle weakness. This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives. Semi-structured interviews were conducted with 12 adolescents, 11 parents and 11 teachers. Qualitative thematic analysis using a grounded theory framework was conducted to identify emerging domains. "Capacity to be able" was the central theme that emerged across the dataset: the introduction of the powered wheelchair standing device at a time when motor skills were declining enabled the adolescent to maintain and sometimes extend his independence. There were four underlying themes including (1) Independence, (2) Health, (3) Comfort, and (4) Community belonging and involvement. Each theme was illustrated in data collected from adolescents, parents and teachers. The device appeared to mitigate some of the challenges of progressive muscle weakness by providing the option for the individual with Duchenne muscular dystrophy to choose when and where to stand for participation in a range of activities, beyond what would be possible with existing therapeutic regimes involving standing frames.

Duchenne muscular dystrophy is a rare degenerative neuromuscular disorder with pediatric onset. Recent approvals in Duchenne have placed attention on the economic evaluation in pricing and reimbursement decisions across a range of rare conditions. We sought to assess the appropriateness of the EQ-5D, a common measure of generic health state utility, for use among patients and caregivers affected by Duchenne.An international, cross-sectional sample of adults with Duchenne and caregivers reported patient health status using self- or proxy-reported EQ-5D-3L. Appropriateness was assessed across 6 domains of concern raised by stakeholders in Duchenne. These concerns were that the EQ-5D/EQ-VAS would not capture meaningful differences in health status, correlate with disease-specific measures, reflect real health status, exhibit face validity, be accurately interpreted, and be low burden. We evaluated these concerns by comparing EQ-5D index score and EQ-VAS scores to other condition-specific functional measures and open- and closed-ended questions.In total, 263 participants (74% response) completed the survey, 24% of whom were adult patients. Most participants lived in the United States or United Kingdom (58%). Patient age ranged from 1 to 48 y. EQ-5D index was higher in ambulatory than nonambulatory patients (0.60 v. 0.30,Contrary to anecdotal concerns, we found support for the appropriateness of EQ-5D to assess health status in Duchenne. While other measures may be more sensitive to specific outcomes in Duchenne, there may be some value in results using the EQ-5D measure.

Purpose To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). Materials and methods An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements. To supplement limited literature, round one of the Delphi process comprised questions consistent with the International Classification of Functioning, Disability and Health model of disability to generate items based on expert opinion and was completed by 38 clinicians and nine users. Thirty-seven participants completed two further rounds rating the importance of each item with a five-point scale. Agreement of 70% or more participants for items indicated consensus. Results Consensus was reached for 47 of 80 items. Tolerance and comfort in supported standing for at least 10 min, ankle contracture less than 10 degrees and user goals reflecting motivation to use the standing function were agreed as necessary in guiding the decision to trial a PWSD. Evidence of family, therapist and servicing support were also considered critical in enabling continuity of PWSD use. Conclusions PWSD is a mobility option that offers choice, control and opportunity for independence. This consensus statement can assist clinicians with decision-making around factors influencing successful implementation and optimisation of PWSD for young people with DMD. Implications for Rehabilitation Tolerance and comfort in supported standing for at least 10 minutes, ankle contracture limited to less than 10 degrees and the child's goals reflecting motivation to use the standing position were agreed to be necessary considerations in guiding the decision to trial a PWSD. Trialling a PWSD when the child is predicted to lose the ability to walk within a one to two year period was recommended although a PWSD could be suitable for a child who was unable to walk. Evidence of family, therapist and servicing support was considered critical in enabling continuity of PWSD use.

Introduction Duchenne muscular dystrophy (DMD) is an incurable neuromuscular disorder of childhood. Healthcare, caregiving, and other resource needs of affected individuals are thought to be substantial; however, the economic burden associated with DMD has not yet been assessed specifically in Australia. Methods Australian households with a child with DMD were asked to complete a cross-sectional survey. Data were collected on annual resource utilization including hospital and medical services, equipment, home modifications, informal care, and working days lost. Results Mean healthcare costs were found to be $10,046 Australian dollars per affected individual and were markedly higher than average Australian health expenditures at each age group. The mean total cost was $46,700 (median $32,300), with healthcare costs contributing 22% of total costs. Conclusions The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood, where household resource use and caregiving burden is highest. Muscle Nerve 53: 877–884, 2016

Duchenne muscular dystrophy (DMD) is an incurable neuromuscular disorder of childhood. Healthcare, caregiving, and other resource needs of affected individuals are thought to be substantial; however, the economic burden associated with DMD has not yet been assessed specifically in Australia.Australian households with a child with DMD were asked to complete a cross-sectional survey. Data were collected on annual resource utilization including hospital and medical services, equipment, home modifications, informal care, and working days lost.Mean healthcare costs were found to be $10,046 Australian dollars per affected individual and were markedly higher than average Australian health expenditures at each age group. The mean total cost was $46,700 (median $32,300), with healthcare costs contributing 22% of total costs.The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood, where household resource use and caregiving burden is highest. Muscle Nerve 53: 877-884, 2016.

Duchenne muscular dystrophy (DMD) is the commonest and best-known of the muscular dystrophies. Being an X-linked disorder, it affects mainly boys. The disease gene was identified in 1987, with the majority of mutations demonstrated to be large-scale deletions. Current best practice molecular diagnosis includes multiplex ligation-dependent probe amplification (MLPA) followed by direct sequencing of all exons at the genomic level, or from cDNA, in order to detect point and other small mutations. The difference between DMD and the allelic Becker muscular dystrophy (BMD) is whether the precise mutation in the gene is a null mutation or results in a modified still partially functional protein. Over the last few years, significant progress has been made in moving experimental therapies into clinical trials, with one of the most promising possible therapies being anti-sense oligonucleotide induced exon-skipping, which converts DMD to BMD. In order to maximise the benefit from future therapies, it will be necessary to start administering the therapies as early as possible in the life of the affected boys, before significant muscle loss occurs. This will require early diagnosis, which evidence suggests is best achieved through population screening. Population screening also allows the avoidance of multiple affected boys in families with no previous family history.