Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Glycogen storage type V (GSD V-McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al., 2021, Neuromuscul Disord, 31, 1296-1310). This paper presents eight patients with a median onset age of 5.5 years and diagnosis of 9.5 years. Six patients had episodes of rhabdomyolysis with creatine kinase elevations >50 000 IU/L. Most episodes occurred in relation to eccentric non-predicted activities rather than regular exercise. One of the patients performed a non-ischaemic forearm test. One patient was diagnosed subsequent to a skeletal muscle biopsy, and all had confirmatory molecular genetic diagnosis. Three were homozygous for the common PYGM:c.148C > T (p.Arg50*) variant. All but one patient had truncating variants. All patients were managed with structured exercise testing to help them identify 'second-wind', and plan an exercise regimen. In addition all also had an exercise test with 25 g maltodextrin which had statistically significant effect on ameliorating ratings of perceived exertion. GSD V is under-recognised in paediatric practice. Genetic testing can readily diagnose the condition. Careful identification of second-wind symptomatology during exercise with the assistance of a multi-disciplinary team, allows children to manage activities and tolerate exercise. Maltodextrin can be used for structured exercise, but excessive utilisation may lead to weight gain. Early intervention and education may improve outcomes into adult life.

Exercise testing and prescription in patients with inborn errors of muscle energy metabolism.

Skeletal muscle is a dynamic organ requiring tight regulation of energy metabolism in order to provide bursts of energy for effective function. Several inborn errors of muscle energy metabolism (IEMEM) affect skeletal muscle function and therefore the ability to initiate and sustain physical activity. Exercise testing can be valuable in supporting diagnosis, however its use remains limited due to the inconsistency in data to inform its application in IEMEM populations. While exercise testing is often used in adults with IEMEM, its use in children is far more limited. Once a physiological limitation has been identified and the aetiology defined, habitual exercise can assist with improving functional capacity, with reports supporting favourable adaptations in adult patients with IEMEM. Despite the potential benefits of structured exercise programs, data in paediatric populations remain limited. This review will focus on the utilisation and limitations of exercise testing and prescription for both adults and children, in the management of McArdle Disease, long chain fatty acid oxidation disorders, and primary mitochondrial myopathies.

What Works When Treating Children and Adolescents With Low Back Pain?

BACKGROUND: Low back pain is a common health condition for all ages. One quarter to a third of children report persistent pain, including low back pain. CLINICAL QUESTION: The aim of this Clinical Commentary is to provide an overview of evidence-based treatment approaches for children and adolescents with low back pain. KEY RESULTS: Physical, psychological, and pharmacological interventions are effective in reducing pain intensity and disability. Interdisciplinary and patient- and family-centered treatment approaches are the gold standard for persistent pain in children and adolescents. Communication between health professionals, children, and parents is a key part of a therapeutic alliance. The use of holistic and complementary therapies is not supported by compelling evidence. CLINICAL APPLICATION: Physical interventions can be delivered alone or as a component of other interventions. The interventions are delivered over 8 to 12 weeks. Psychological therapies are mostly delivered as a component of a multidisciplinary treatment program: cognitive behavioral therapy is most often used, and interventions usually run from 4 to 10 weeks. Pharmacological interventions should be delivered in combination with physical and psychological interventions. Tailor family-centered interventions to personal aspects, such as age, gender, and family structure. When communicating with children and adolescents, use simple language that is clear and direct. Aim to support trust between health professionals and parents to facilitate family decision making. J Orthop Sports Phys Ther 2022;52(7):419-424. Epub: 18 May 2022. doi:10.2519/jospt.2022.10768.

Effect of a Fundamental Motor Skills Intervention on Fundamental Motor Skill and Physical Activity in a Preschool Setting: A Cluster Randomized Controlled Trial.

PURPOSE: To determine the effect of a 12-week fundamental motor skill (FMS) program on FMS and physical activity (PA) on preschool-aged children. METHOD: A cluster randomized controlled trial. The intervention (PhysicaL ActivitY and Fundamental Motor Skills in Pre-schoolers [PLAYFun] Program) was a 12-week games-based program, delivered directly to the children in childcare centers by exercise physiologists. Children in the control arm received the usual preschool curriculum. Outcomes included FMS competence (Test of Gross Motor Development-2) and PA (accelerometer) assessed at baseline, 12 weeks, and 24 weeks (12-wk postintervention). RESULTS: Fifty children (mean age = 4.0 [0.6] y; 54% male) were recruited from 4 childcare centers. Two centers were randomized to PLAYFun and 2 centers were randomized to the waitlist control group. Children attended on average 2.0 (1.0) 40-minute sessions per week. The PLAYFun participants demonstrated significant increases in object control (P < .001) and total FMS (P = .010) competence at week 12, compared with controls in a group × time interaction. Girls, but not boys, in PLAYFun significantly increased moderate to vigorous PA after the intervention (P = .004). These increases were not maintained 12-week postcompletion of PLAYFun. CONCLUSIONS: The PLAYFun Program is effective at improving FMS competence in boys and girls and increasing PA in girls. However, improvements are not maintained when opportunities to practice are not sustained.

Hot weather and heat extremes: health risks.

Hot ambient conditions and associated heat stress can increase mortality and morbidity, as well as increase adverse pregnancy outcomes and negatively affect mental health. High heat stress can also reduce physical work capacity and motor-cognitive performances, with consequences for productivity, and increase the risk of occupational health problems. Almost half of the global population and more than 1 billion workers are exposed to high heat episodes and about a third of all exposed workers have negative health effects. However, excess deaths and many heat-related health risks are preventable, with appropriate heat action plans involving behavioural strategies and biophysical solutions. Extreme heat events are becoming permanent features of summer seasons worldwide, causing many excess deaths. Heat-related morbidity and mortality are projected to increase further as climate change progresses, with greater risk associated with higher degrees of global warming. Particularly in tropical regions, increased warming might mean that physiological limits related to heat tolerance (survival) will be reached regularly and more often in coming decades. Climate change is interacting with other trends, such as population growth and ageing, urbanisation, and socioeconomic development, that can either exacerbate or ameliorate heat-related hazards. Urban temperatures are further enhanced by anthropogenic heat from vehicular transport and heat waste from buildings. Although there is some evidence of adaptation to increasing temperatures in high-income countries, projections of a hotter future suggest that without investment in research and risk management actions, heat-related morbidity and mortality are likely to increase.

Reducing the health effects of hot weather and heat extremes: from personal cooling strategies to green cities.

Heat extremes (ie, heatwaves) already have a serious impact on human health, with ageing, poverty, and chronic illnesses as aggravating factors. As the global community seeks to contend with even hotter weather in the future as a consequence of global climate change, there is a pressing need to better understand the most effective prevention and response measures that can be implemented, particularly in low-resource settings. In this Series paper, we describe how a future reliance on air conditioning is unsustainable and further marginalises the communities most vulnerable to the heat. We then show that a more holistic understanding of the thermal environment at the landscape and urban, building, and individual scales supports the identification of numerous sustainable opportunities to keep people cooler. We summarise the benefits (eg, effectiveness) and limitations of each identified cooling strategy, and recommend optimal interventions for settings such as aged care homes, slums, workplaces, mass gatherings, refugee camps, and playing sport. The integration of this information into well communicated heat action plans with robust surveillance and monitoring is essential for reducing the adverse health consequences of current and future extreme heat.

Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report.

OBJECTIVES: To describe the metabolic and endocrine features of a patient with Barth syndrome who showed evidence of growth hormone resistance. CASE PRESENTATION: A male proband deteriorated rapidly with lactic acidosis after a circumcision at age three weeks and was found to have severe dilated cardiomyopathy. A cardiomyopathy gene panel led to the diagnosis of TAZ-deficiency Barth syndrome. He subsequently experienced hypotonia and gross motor delay, feeding difficulties for the first four years, constitutional growth delay and one episode of ketotic hypoglycaemia. Cardiomyopathy resolved on oral anti-failure therapy by age three years. He had a hormonal pattern of growth hormone resistance, and growth hormone treatment was considered, however height velocity improved spontaneously after age 3½ years. He also had biochemical primary hypothyroidism. CONCLUSIONS: With careful metabolic management with l-arginine supplementation, overnight corn starch, and a prescribed exercise program, our patient's strength, endurance, level of physical activity and body composition improved significantly by age six years.

A deep dive into testing and management of COVID-19 for Australian high performance and professional sport.

The purpose of testing for any communicable disease is to support clinicians in the diagnosis and management of individual patients and to describe transmission dynamics. The novel coronavirus is formally named SARS-CoV-2 and the clinical disease state resulting from an infection is known as COVID-19. Control of the COVID-19 pandemic requires clinicians, epidemiologists, and public health officials to utilise the most comprehensive, accurate and timely information available to manage the rapidly evolving COVID-19 environment. High performance sport is a unique context that may look towards comprehensive testing as a means of risk mitigation. Characteristics of the common testing options are discussed including the circumstances where additional testing may be of benefit and considerations for the associated risks. Finally, a review of the available technology that could be considered for use by medical staff at the point of care (PoC) in a high-performance sporting context is included.

The Australian Institute of Sport framework for rebooting sport in a COVID-19 environment.

Sport makes an important contribution to the physical, psychological and emotional well-being of Australians. The economic contribution of sport is equivalent to 2-3% of Gross Domestic Product (GDP). The COVID-19 pandemic has had devastating effects on communities globally, leading to significant restrictions on all sectors of society, including sport. Resumption of sport can significantly contribute to the re-establishment of normality in Australian society. The Australian Institute of Sport (AIS), in consultation with sport partners (National Institute Network (NIN) Directors, NIN Chief Medical Officers (CMOs), National Sporting Organisation (NSO) Presidents, NSO Performance Directors and NSO CMOs), has developed a framework to inform the resumption of sport. National Principles for Resumption of Sport were used as a guide in the development of 'the AIS Framework for Rebooting Sport in a COVID-19 Environment' (the AIS Framework); and based on current best evidence, and guidelines from the Australian Federal Government, extrapolated into the sporting context by specialists in sport and exercise medicine, infectious diseases and public health. The principles outlined in this document apply to high performance/professional, community and individual passive (non-contact) sport. The AIS Framework is a timely tool of minimum baseline of standards, for 'how' reintroduction of sport activity will occur in a cautious and methodical manner, based on the best available evidence to optimise athlete and community safety. Decisions regarding the timing of resumption (the 'when') of sporting activity must be made in close consultation with Federal, State/Territory and/or Local Public Health Authorities. The priority at all times must be to preserve public health, minimising the risk of community transmission.

Choosing Wisely after a sport and exercise-related injury.

Low-value care is receiving substantial attention in many fields of medicine but little-to-none in sports medicine. Common interventions for sport and exercise-related injuries include medical imaging, medication, surgery and rehabilitation, but there is emerging evidence of the inappropriate use of these interventions. This chapter aims to increase awareness of low-value care in sports medicine by answering four key clinical questions: Does my patient need imaging? When is it appropriate to prescribe opioids? Does my patient need surgery? Does it matter how rehabilitation is delivered? Increasing awareness of low-value care in sports medicine will ensure patients with sport or exercise-related injuries avoid care that provides little-to-no benefit or causes harm and receive care that is evidence based and truly necessary. There are many situations when imaging, opioids, surgery and supervised rehabilitation are entirely appropriate. However, this chapter considers contexts where use of these interventions could be considered unnecessary and potentially harmful.

Correction: Optimization of prophylaxis for hemophilia A.

[This corrects the article DOI: 10.1371/journal.pone.0192783.].

Exploring the Relationship Between Fundamental Motor Skill Interventions and Physical Activity Levels in Children: A Systematic Review and Meta-analysis.

BACKGROUND: Physical activity provides many health benefits, yet few children meet the physical activity recommendations. In school-age children, low proficiency in fundamental movement skills (FMS) is associated with low physical activity (PA). It is unknown if the same relationship exists in pre-schoolers (aged 3-5 years). OBJECTIVES: The aims of this review were to firstly evaluate interventions for improving FMS and PA levels in children aged 3-5 years and 5-12 years, and secondly to determine, where possible, if there is a similar relationship between change in FMS and change in PA across both age groups. METHODS: A systematic search of electronic databases was conducted up until 20 July 2017. Controlled trials that implemented an FMS/PA intervention and measured PA levels (objective/subjective) and FMS (objective) in healthy children between the ages of 3 and 12 years were included. Sub-analysis was conducted based on the type of intervention (teacher-led [TL] or teacher educated), sessions per week (< 3 or ≥ 3) and age group. RESULTS: Search terms yielded 17,553 articles, of which 18 met the inclusion criteria. There was significant improvement in FMS with TL interventions of three or more sessions per week (standardised mean difference = 0.23 [0.11-0.36]; p = 0.0002). In TL interventions, there was a strong negative correlation between moderate-vigorous physical activity (MVPA) and sedentary behaviour (SB) (r = - 0.969; p = 0.031). CONCLUSIONS: There are limited studies measuring both FMS and PA following an FMS intervention, especially in school-aged children. Results indicate that training pre-schoolers at least three times a week in FMS can improve proficiency, increase intensity of PA, and reduce SB, possibly helping to reduce the burden of childhood obesity and its associated health risks.

Relationship between growth, maturation and musculoskeletal conditions in adolescents: a systematic review.

OBJECTIVE: To determine whether there is a relationship between physical growth and development, as determined by markers of biological maturation, and musculoskeletal conditions in adolescents. DESIGN: Systematic review. DATA SOURCES: Electronic databases (PubMed, EMBASE and the Cumulative Index to Nursing and Allied Health Literature) were searched up to 6 September 2017. ELIGIBILITY CRITERIA FOR SELECTING STUDIES: Studies that evaluated the association between biological maturation or growth and musculoskeletal conditions in adolescents (chronological age 10-19 years). RESULTS: From 20 361 titles identified by the searches, 511 full-text articles were retrieved and assessed for eligibility; 56 studies, all at high risk of bias, evaluating the relationship between maturation and/or growth and musculoskeletal conditions were included. A total of 208 estimates of association were identified across the included studies, which generally indicated no association or an unclear association between maturation, growth and musculoskeletal conditions. SUMMARY/CONCLUSIONS: While the relationship between maturation, growth and musculoskeletal conditions remains plausible, the available evidence is not supportive. The current body of knowledge is at high risk of bias, which impedes our ability to establish whether biological maturity and growth are independent risk factors for musculoskeletal conditions.

Implementation of the 2017 Berlin Concussion in Sport Group Consensus Statement in contact and collision sports: a joint position statement from 11 national and international sports organisations.

The 2017 Berlin Concussion in Sport Group Consensus Statement provides a global summary of best practice in concussion prevention, diagnosis and management, underpinned by systematic reviews and expert consensus. Due to their different settings and rules, individual sports need to adapt concussion guidelines according to their specific regulatory environment. At the same time, consistent application of the Berlin Consensus Statement's themes across sporting codes is likely to facilitate superior and uniform diagnosis and management, improve concussion education and highlight collaborative research opportunities. This document summarises the approaches discussed by medical representatives from the governing bodies of 10 different contact and collision sports in Dublin, Ireland in July 2017. Those sports are: American football, Australian football, basketball, cricket, equestrian sports, football/soccer, ice hockey, rugby league, rugby union and skiing. This document had been endorsed by 11 sport governing bodies/national federations at the time of being published.

Optimization of prophylaxis for hemophilia A.

BACKGROUND & AIMS: Prophylactic injections of factor VIII reduce the incidence of bleeds and slow the development of joint damage in people with hemophilia. The aim of this study was to identify optimal person-specific prophylaxis regimens for children with hemophilia A. METHODS: Analytic and numerical methods were used to identify prophylaxis regimens which maximize the time for which plasma factor VIII concentrations exceed a threshold, maximize the lowest plasma factor VIII concentrations, and minimize risk of bleeds. RESULTS: It was demonstrated analytically that, for any injection schedule, the regimen that maximizes the lowest factor VIII concentration involves sharing doses between injections so that all of the trough concentrations in a prophylaxis cycle are equal. Numerical methods were used to identify optimal prophylaxis schedules and explore the trade-offs between efficacy and acceptability of different prophylaxis regimens. The prophylaxis regimen which minimizes risk of bleeds depends on the person's pattern of physical activity and may differ greatly from prophylaxis regimens that optimize pharmacokinetic parameters. Prophylaxis regimens which minimize risk of bleeds also differ from prophylaxis regimens that are typically prescribed. Predictions about which regimen is optimal are sensitive to estimates of the effects on risk of bleeds of factor VIII concentration and physical activity. CONCLUSION: The methods described here can be used to identify optimal, person-specific prophylaxis regimens for children with hemophilia A.

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis. Using whole exome sequencing we identified compound heterozygous novel variants, c.803C>T; p.(Thr268Ile) and c.1234C>T; p.(Arg412Cys), in GARS in the proband. Spectrophotometric evaluation of the MRC complexes showed reduced activity of Complex I, III and IV in patient skeletal muscle and reduced Complex I and IV activity in the patient liver, with Complex IV being the most severely affected in both tissues. Immunoblot analysis of GARS protein and subunits of the MRC enzyme complexes in patient fibroblast extracts showed significant reduction in GARS protein levels and Complex IV. Together these studies provide evidence that the identified compound heterozygous GARS variants may be the cause of the mitochondrial dysfunction in our patient.

Interventions to improve fundamental motor skills in pre-school aged children: A systematic review and meta-analysis.

OBJECTIVES: Mastery in -fundamental motor skills (FMS) is associated with increased physical activity (PA) in school-aged children; however, there is limited research on pre-schoolers (3-5 years). We aimed to evaluate interventions for improving FMS as well as PA. DESIGN/METHODS: A search of electronic databases was conducted for controlled trials using PA interventions with FMS as outcomes in healthy pre-schoolers. Standardised mean difference (SMD), 95% confidence intervals and publication bias were calculated for each outcome using Revman 5.3. RESULTS: Twenty trials met inclusion criteria. In total, 4255 pre-schoolers were analysed with 854 completing a FMS intervention. Studies were categorised into three groups (i) Teacher-Led (TL)(n=13); (ii) Child-Centred (CC)(n=6) and (iii) Parent-Led (PL)(n=1). Mean age was 4.3±0.4 years, with equal gender distribution. Interventions ran for 21±17 weeks, 3±1 times per week for 35±17 minutes. TL interventions significantly improved overall FMS (SMD=0.14[0.06, 0.21]; p=0.0003), object control (SMD=0.47[0.15, 0.80]; p= 0.004), and locomotor skills (SMD=0.44[0.16, 0.73]; p=0.002), whereas CC interventions were not significant. There was a small, non-significant reduction in sedentary time (SMD=-0.35[-0.80, 0.10]; p= 0.12), and a large non-significant increase in PA (SMD=0.79[-0.83, 2.41]; p=0.34). CONCLUSION: PA interventions improve FMS in pre-schoolers; however, due to limited research, more study is needed on CC interventions. Targeting FMS development in pre-schoolers may promote higher PA levels and reduce sedentary time, however more study is needed.

Short-term Clinical Course of Knee Pain in Children and Adolescents: A Feasibility Study Using Electronic Methods of Data Collection.

BACKGROUND AND PURPOSE: Musculoskeletal disorders, such as knee pain, are common in children and adolescents, but there is a lack of high quality research that evaluates the clinical course of these conditions. The objective of this study was to evaluate the feasibility of conducting a prospective study of children and adolescents with knee pain using electronic methods of data collection. METHODS: Children and adolescents with knee pain that presented to primary care physiotherapy clinics were enrolled and followed-up on a weekly basis via short messaging service (SMS) until their knee pain had recovered (i.e. two consecutive weeks of no pain). Feasibility was assessed in terms of recruitment, retention and response rates to SMS and an online questionnaire. Baseline and 6-month follow-up measures included pain, disability, physical function, physical activity and health related quality of life. Kaplan-Meier survival analysis was used to estimate the median time to knee pain recovery. RESULTS: Thirty participants (mean age 13.0 ± 2.2 years, 53% boys) were recruited over 26 months. The overall response rate to weekly SMS follow-up was 71.3% (809 received/1135 sent). One third of participants stopped responding to SMS prior to recovery, and these participants typically had a much lower response rate during the time they remained in the study. At 6-month follow-up, 80% of the cohort completed the final online questionnaire, and 29% of participants still reported current knee pain (≥1/10 VAS). The median time for knee pain recovery was 8 weeks (95%CI: 5, 10). CONCLUSION: Electronic data collection alone seems insufficient to track pain recovery in young people and may need to be supplemented with more traditional data collection methods. Researchers should consider further measures to address slow recruitment rates and high attrition when designing large prospective studies of children and adolescents in the future. Copyright © 2016 John Wiley & Sons, Ltd.

The Adolescent Athlete: A Developmental Approach to Injury Risk.

With the advent of long-term athlete development programs and early sport specialization, the training of elite athletes now spans the period of adolescence. Adolescence represents a period of physical, psychosocial and cognitive development, but also a time of physical and psychological vulnerability. Changes in skeletal and physiological attributes coincide with an increased risk of sport related injury. A window of vulnerability is shaped by the properties of the musculoskeletal system, the influence of pubertal hormones and the lag time between physical and cognitive development. This article aims to challenge the assumption of adolescence as a time of increased vigor alone, by highlighting the presence of specific vulnerabilities, and proposing that the hormonal, musculoskeletal, and neurocognitive changes of adolescence may represent intrinsic risk factors for sport related injury.