Translating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease.

BACKGROUND: Implementing scientific knowledge in clinical practice is a challenge. In this context, the effective dissemination of scientific findings is of utmost importance. OBJECTIVE: The aim of this study was to develop a Practice Brief in Portuguese, Spanish and English based on a previously published Clinical Practice Guideline to promote safe and effective exercise for children and young people with Charcot-Marie-Tooth disease and related neuropathies (CMT). METHODS: The Practice Brief was developed by eight health professionals from Brazil and Australia with English, Portuguese, and Spanish translations. The target audience chosen were the medical and allied health professionals involved in the rehabilitation of paediatric CMT. The content was based on the world first "Clinical Practice Guideline for the management of paediatric Charcot-Marie-Tooth disease" [1]. The layout of the Practice Brief was designed according to the criteria for the development of educational materials. The disclosure plan for the Practice Brief involves its publication on University and Hospital websites, www.ClinicalOutcomeMeasures.org and through social media platforms such as ResearchGate, Instagram, Facebook and Twitter, as well as in print format for CMT patient care centres. RESULTS: The English, Portuguese and Spanish versions of the Practice Brief is organised into six sections about assessment, exercise and physical rehabilitation, of which one is focused on progressive resistance exercises for the foot dorsiflexor muscles. CONCLUSION: We developed a Practice Brief in three languages (English, Portuguese and Spanish), synthesising the main recommendations for exercise and related rehabilitative therapies for paediatric CMT from a published clinical guideline.

The impact of delayed screening colonoscopies during the COVID-19 pandemic on clinical outcomes.

BACKGROUND: Colorectal cancer (CRC) screening services in Ireland were cancelled or postponed for periods during the COVID-19 pandemic. The aim of this study was to assess the impact of screening colonoscopy delays after a positive FIT on clinical and histopathological outcomes due to these restrictions. METHODS: Participants in the Irish National Bowel Screening Programme with a positive Immunochemical Faecal Test (FIT) during the COVID-19 pandemic (March 2020-December 2021) were included. Patients were categorised into attended for a colonoscopy <3 months and attended for colonoscopy ≥3-17 months post positive FIT. Chi-Square Test of independence was performed using WinPepi. RESULTS: 3227 individuals had a complete index colonoscopy <3 months and 262 attended colonoscopy from ≥3 to 17 months post positive FIT. Of the clients whose colonoscopy was between ≥3-17 months from positive FIT, the median wait time was 3 months. There was no significant difference found between the two groups for CRC (5.8 % vs 5.0 %, p=0.544) or for the proportion of cancer stage I, stage II and unknown (33.7 %, 40.6 %, 25.7 %, p=0.411). There was no difference in the proportions of adenomas (57.8 % vs 58.4 %, p=0.849) and the proportion of advanced adenomas (7.7 % vs 10.7 %, p=0.077) detected between the two groups. A similar proportion of polyps were detected in individuals whose index colonoscopies were postponed <3 months from positive FIT (66.9 % vs 66 %, p=0.786). CONCLUSION: A median delay of 3 months in screening colonoscopies after a positive FIT does not adversely impact clinical or histopathological outcomes. There was no significant difference in cancer staging, advanced adenomas or polyps detected between those who attended colonoscopies <3 months and ≥3-17 months post positive FIT. COVID-19 related disruptions to the normal functioning of the Irish bowel screening programme did not compromise our key objectives of advanced adenoma and cancer detection.

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.

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.

BACKGROUND: ATL1102 is a 2'MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression of CD49d on lymphocytes, reducing survival, activation and migration to sites of inflammation. Children with DMD have dystrophin deficient muscles susceptible to contraction induced injury, which triggers the immune system, exacerbating muscle damage. CD49d is a biomarker of disease severity in DMD, with increased numbers of high CD49d expressing T cells correlating with more severe and progressive weakess, despite corticosteroid treatment. METHODS: This Phase 2 open label study assessed the safety, efficacy and pharmacokinetic profile of ATL1102 administered as 25 mg weekly by subcutaneous injection for 24 weeks in 9 non-ambulatory boys with DMD aged 10-18 years. The main objective was to assess safety and tolerability of ATL1102. Secondary objectives included the effect of ATL1102 on lymphocyte numbers in the blood, functional changes in upper limb function as assessed by Performance of Upper Limb test (PUL 2.0) and upper limb strength using MyoGrip and MyoPinch compared to baseline. RESULTS: Eight out of nine participants were on a stable dose of corticosteroids. ATL1102 was generally safe and well tolerated. No serious adverse events were reported. There were no participant withdrawals from the study. The most commonly reported adverse events were injection site erythema and skin discoloration. There was no statistically significant change in lymphocyte count from baseline to week 8, 12 or 24 of dosing however, the CD3+CD49d+ T lymphocytes were statistically significantly higher at week 28 compared to week 24, four weeks past the last dose (mean change 0.40x109/L 95%CI 0.05, 0.74; p = 0.030). Functional muscle strength, as measured by the PUL2.0, EK2 and Myoset grip and pinch measures, and MRI fat fraction of the forearm muscles were stable throughout the trial period. CONCLUSION: ATL1102, a novel antisense drug being developed for the treatment of inflammation that exacerbates muscle fibre damage in DMD, appears to be safe and well tolerated in non-ambulant boys with DMD. The apparent stabilisation observed on multiple muscle disease progression parameters assessed over the study duration support the continued development of ATL1102 for the treatment of DMD. TRIAL REGISTRATION: Clinical Trial Registration. Australian New Zealand Clinical Trials Registry Number: ACTRN12618000970246.

Identifying and prioritising strategies to optimise community gym participation for young adults with cerebral palsy: an e-Delphi study.

PURPOSE: Identify and prioritise strategies to optimise physical activity participation in the community gym setting for young adults with cerebral palsy. METHODS: An e-Delphi method was implemented over three rounds with four stakeholder groups (young adults with cerebral palsy, their families, gym staff or exercise professionals, and health professionals). Strategies for change were identified by the stakeholders in round 1. In rounds 2 and 3, strategies for change were rated on the importance for implementation using a 7-point Likert scale (1 being lowest importance, 7 being highest). The consensus was achieved if ≥70% of participants identified a strategy as high importance. RESULTS: Seventy participants (20 young adults 10 family members, 21 health professionals, and 19 exercise professionals) identified 83 strategies for improving gym participation. Of these, 44 strategies met the consensus criteria. The highest priority strategies related to changing the physical environment, addressing cost barriers, gym staff training, and developing partnerships between sectors. CONCLUSIONS: Addressing physical accessibility, cost of attendance and the skills of gym staff were agreed upon by the stakeholder groups as priority areas for future resource allocation and research translation. Clinicians and community leisure facilities must work with consumers to implement strategies in their local contexts.

The physical environment, gym staff training, and the cost of attendance are the priority areas for future interventions agreed on by key stakeholder groupsHealth professionals can facilitate community participation by partnering with the recreation and research sectors to create pathways to gym exerciseHealth professionals can play a role in developing the knowledge, skills and confidence of gym staff to support young people with cerebral palsy in the gymWhen implementing 1:1 social support in community gym settings, consider the preferences of young adults and the resources available.

Firearm Suicide Prevention in the U.S. Military: Recommendations From a National Summit.

The U.S. DoD has identified firearm suicide prevention as a key operational priority. One vital approach to addressing firearm suicides is through promoting lethal means safety, which involves the voluntary use of secure storage for personally owned firearms and/or temporarily moving firearms out of the home during risk periods. Despite promising approaches to lethal means safety, critical gaps remain in research, programming, and communication among and across scientists, DoD programmatic leaders, front-line commanders, and service members. To address these gaps, the first-ever national "Firearm Suicide Prevention in the Military: Messaging and Interventions Summit" was convened in June 2022, bringing together DoD personnel and researchers with expertise in firearm suicide prevention and lethal means safety. The Summit identified 10 recommendations to enhance firearm suicide prevention messaging and interventions in the U.S. military, including (1) repeal or amend prohibitions on questioning service members about personal firearms; (2) develop, examine, and use common language for firearm injury prevention; (3) implement a universal approach to training on comprehensive firearm injury prevention; (4) encourage leadership across disciplines and levels; (5) aim for broad culture change; (6) support innovative research; (7) consider various outcome measures; (8) promote "cultural competence" for better communication; (9) reduce territorialism; and (10) develop creative partnerships. Ultimately, these recommendations can facilitate productive partnerships with a shared goal: to develop, test, and implement strategies that standardize lethal means safety and reduce firearm suicides and other firearm injuries or harm among service members.

Delivering multidisciplinary neuromuscular care for children via telehealth.

INTRODUCTION/AIMS: In response to coronavirus disease 2019 (COVID-19) pandemic restrictions int 2020, our face-to-face (F2F) multidisciplinary neuromuscular clinic (NMC) transitioned to widespread use of telehealth (TH). This study aimed to (1) understand parent/guardian, child, and clinician perceptions of TH; (2) examine TH-related changes in clinical activity; and (3) use these findings to inform a future model of care for the NMC. METHODS: A clinical audit was undertaken to examine clinical activity throughout 2018-2020. Online surveys were distributed to clinicians and parents of children attending the NMC via TH in 2020. A working group of clinicians created a checklist to guide a future hybrid model of TH and F2F care. RESULTS: Total clinical activity in 2020 was maintained from previous years; 62.8% of all appointments occurred via TH, and 82.3% of patients attended NMC by TH at least once. Ninety-nine parents (30.6% response rate), 52 children, and 17 clinicians (77% response rate) responded to the survey. All groups reported better interaction when F2F compared to TH. Eighty percent of parents identified advantages of TH and reported lower levels of stress. A lack of "hands-on" physical assessment was identified by parents and clinicians as a TH limitation. Most families (68.1% of parents; 58.8% of children) and all clinicians indicated a preference for a mix of TH and F2F NMC appointments in the future. DISCUSSION: This study has informed a checklist to guide future TH use in a new hybrid model of care. Further investigation is required to assess health impacts of TH use in pediatric neuromuscular care.

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.

Social Support Initiatives That Facilitate Exercise Participation in Community Gyms for People with Disability: A Scoping Review.

People with disability report social support facilitates participation in physical activity. A scoping review explored social support strategies used to facilitate exercise participation for people with disability (aged ≥ 15 years) in community gym settings. Seven electronic databases were searched. Studies were screened for eligibility based on title and abstract followed by full-text review. Data were analysed using content analysis and narrative synthesis. Forty-two articles reporting data from 35 studies were included. Eight types of social support were identified: supervision (n = 30), peer support (n = 21), specialist support (n = 19), orientation (n = 15), education (n = 7), logistical support (n = 6), motivational support (n = 5) and organised social activities (n = 4). Direct supervision was typically provided 1:1 or in small groups by staff experienced working with people with disability. Peer support typically involved support from exercise group participants or a peer mentor. Specialist support was usually provided by a health or exercise professional either directly to people with disability or to the people providing support to them (e.g., trainer). Orientation to the gym environment, equipment and exercise program was usually provided over 1 or 2 sessions. Gym staff may use these strategies to guide the implementation of social supports within their facilities to promote social connectedness and participation for people with disability.

Characterising gait in paediatric neuromuscular disorders: an observational study of spatio-temporal gait in a clinical cohort.

AIM: Few studies have characterised the relationship between disease and gait function in children and young people with rare neuromuscular disorders (NMDs). This study aimed to describe the relationship between disease and gait in a large paediatric cohort from a neuromuscular outpatient clinic. METHODS: A prospective, cross-sectional study of gait in independently ambulant children and young people aged 4-21 years with a clinical or genetically confirmed NMD. Participants traversed an electronic walkway barefoot and in footwear at self-selected and fast pace. Analysis of disease included a typically developing (TD) reference group. RESULTS: A sample of 113 participants with NMD, mean age 9.5 years (SD 3.1), 28% female, grouped into nine diagnostic subgroups. Eighty percent reported limitations to functional mobility. Children with NMD walked slower, with a shorter and wider step compared to a TD reference group, with moderate to large effect sizes for each of these gait parameters indicative of the clinical significance of these gait deviations. Children with Duchenne muscular dystrophy (DMD) walked slowest with a markedly wide gait pattern. Footwear had little overall effect on gait in children with NMDs. All children could accelerate over short distances. CONCLUSIONS: Gait, notably speed, step length, and width are clinically significant biomarkers of disease in paediatric NMDs, affording objective functional measures in clinical settings and research.Implications for rehabilitationGait should be considered a functional biomarker of disease in children and young people with neuromuscular disorders (NMDs).Comparison of gait in a paediatric neuromuscular cohort indicates that children with Duchenne muscular dystrophy (DMD) walk slowest with a shorter step length and a wider step width which increases with age and disease progression.Measurement of gait speed is a simple, pragmatic tool to monitor disease progression in the outpatient clinical environment and relates to everyday function.In clinical research, gait can be measured as a functional outcome to demonstrate change from disease-modifying interventions and treatments in NMDs.

Feasibility of scaling-up a community-based exercise program for young people with disability.

PURPOSE: To evaluate feasibility of scaling up a 12-week community-based exercise program (FitSkills) in which young people with disability exercise with a student mentor. METHOD: Within a stepped wedge cluster randomised trial, seven domains of feasibility were assessed: demand, implementation, acceptability, practicality, adaptation, integration, and expansion. RESULTS: Of the 163 participants with disability (61 females; 20.8 ± 5 y) and 226 mentors who enrolled, 123 participants and mentors completed FitSkills. Population demand was estimated at 9% of members of participating organisations. Most participants (76%) completed the twice-weekly program within 12 weeks, attending 79% of sessions (mean 18.9 ± 4.7). Key program elements valued by participants were the mentor, tailored exercise, and regular program schedule. Majority (87%) of mentors were recruited from physiotherapy, occupational therapy, and exercise science courses. Positives for participants were perceived benefits and organisational support, and for mentors, understanding disability. Communication and scheduling were burdens. Three serious and 28 non-serious adverse events occurred. Adaptations (additional screening, risk analysis, extra mentor support, or in-person consultation) enabled 29 young people with complexity to participate. The number of trial sites was expanded to 11 to accommodate participants. CONCLUSIONS: Scaling-up FitSkills is feasible, but with caveats related to communication, scheduling, and efficiency of recruitment.IMPLICATIONS FOR REHABILITATIONKey elements valued by participants as part of the successful scale-up of a community-based exercise program (FitSkills) across a large metropolitan city included a peer-mentor, tailored exercise, and organisational support structure.FitSkills can be adapted to include young people with complex disability with additional supports including screening, risk analysis, and professional support for the peer-mentor.The benefits of FitSkills, including social connectedness for young people with a disability and normalisation of disability for mentors, outweigh the burdens of participation.Communication with program organisers and scheduling logistics between the young person, their family/carers and peer mentors are important factors to manage for the successful implementation of FitSkills.

The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study.

PURPOSE: We explored the effects of standardized calf massage in ambulant boys with Duchenne muscular dystrophy (DMD) using a prospective study design. MATERIALS AND METHODS: Twenty boys completed two study visits, 1 week apart. At both visits, each leg received a 10-min calf massage (intervention) and a 10-min control rest period (placebo) in randomized order. Muscle length of calf and hamstrings and gastrocnemius stiffness were measured by a blinded assessor before and after intervention and placebo. Measures of gait function (timed 10-m walk/run and spatio-temporal gait parameters); gastrocnemius muscle ultrasound findings; participant perception of leg pain, stiffness and effort of walking and general psychological well-being were also collected. RESULTS: Consistent significant small increases in muscle length of soleus, gastrocnemius and hamstrings were recorded post-massage, and gastrocnemius stiffness decreased. Small changes in gastrocnemius and soleus length only were also recorded following the control rest period. Gait function and general well-being remained stable throughout. Measurement across both study visits suggested that gains in muscle length may be cumulative with repeated massage. CONCLUSIONS: Calf massage is safe and associated with benefits to muscle length and stiffness for ambulant boys with DMD.Implications for RehabilitationIn a small sample of boys with Duchenne muscular dystrophy, calf massage was found to be safe, well-tolerated and associated with increased muscle length and decreased stiffness.The use of massage may assist in managing muscle length in boys with Duchenne muscular dystrophy.

A pilot feasibility study of a group-delivered cancer parenting program: Enhancing Connections-Group.

OBJECTIVE: The purpose of this study was to examine the feasibility and short-term impact of a 5-session fully manualized, group-delivered cancer parenting education program to diagnosed parents or surrogate parents with a school-age child. DESIGN: Single group, pre-post-test design with intent to treat analysis. SAMPLE: A total of 16 parents completed the program who were diagnosed within 12 months with non-metastatic cancer of any type (Stages 0-III), read and wrote English, had a child 5-17 years old who knew the parent's diagnosis. METHODS: Assessments occurred at baseline and at 2 months post-baseline on standardized measures of parental depressed mood, anxiety, parenting self-efficacy, parenting quality, parenting skills and child behavioral-emotional adjustment. FINDINGS/RESULTS: The program was feasible and well accepted: 16/18 (89%) of the enrolled participants were included in the intent to treat analysis. Program staff were consistently positive and enthusiastic about the demonstrated skills they observed in group attendees during the group-delivered sessions, including the emergence of support between attendees. Outcomes on all measures improved between baseline and post-intervention; changes were statistically significant on measures of parents' anxiety, parents' self-efficacy, parents' skills, and parenting quality. CONCLUSIONS: The group-delivered Enhancing Connections cancer parenting program has potential to improve behavioral-emotional outcomes on standardized measures of skills and emotional adjustment in parents, parent-surrogates and children. Future testing is warranted. IMPLICATIONS FOR PSYCHOSOCIAL PROVIDERS: After a brief training, a fully manualized cancer parenting program can enhance parenting competencies and parent-reported child outcomes.

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

BACKGROUND: Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and Disability (ICF) model, assessment of gait and functional ambulation should consider the impairments, activity limitations and participation restrictions due to disease, and factors related to the environment and the individual person. METHODS: This narrative review involved a literature search of databases including Medline, Embase and Pubmed from 1946 to October 2019. Inclusion criteria included assessments of gait, endurance and ambulatory function in paediatric (0-18 years) neuromuscular diseases. RESULTS: Fifty-two papers were identified reporting assessments of gait speed, timed function, endurance and ambulatory capacity, gait-related balance and qualitative descriptive assessments of gait function and effect of disease on gait and gait-related activities. Gait speed is an indicator of disability and children with neuromuscular disease walk slower than typically developing peers. Increasing disease severity and age were associated with slower walking in children with Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. The six-minute walk test is used widely as a test of endurance and ambulatory capacity; six-minute walk distance was substantially reduced across all paediatric neuromuscular diseases. Endurance and ambulatory capacity was more limited in children with spinal muscular atrophy type 3, congenital muscular dystrophy and older boys with Duchenne muscular dystrophy. Only a few papers considered normalisation of gait parameters accounting for the effect on gait of height in heterogeneous groups of children and linear growth in longitudinal studies. Balance related to gait was considered in five papers, mainly in children with Charcot-Marie-Tooth disease. There was limited investigation of factors including distance requirements and terrain in children's typical environments and personal factors related to self-perception of disease effect on gait and gait-related function. CONCLUSION: Assessments of gait and functional ambulation are important considerations in documenting disease progression and treatment efficacy in the clinical setting; and in clinical trials of disease-modifying agents and physiotherapeutic interventions in paediatric neuromuscular diseases. There is a need for expert consensus on core gait and functional ambulation assessments for use in clinical and research settings.