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.

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.

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.

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.

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.

Feasibility of an inpatient exercise intervention for children undergoing hematopoietic stem cell transplant.

With improving survival rates following HSCT in children, QOL and management of short- and long-term effects need to be considered. Exercise may help mitigate fatigue and declines in fitness and strength. The aims of this study were to assess the feasibility of an inpatient exercise intervention for children undergoing HSCT and observe the changes in physical and psychological health. Fourteen patients were recruited, mean age 10 yr. A 6MWT, isometric upper and lower body strength, balance, fatigue, and QOL were assessed prior to Tx and six wk post-Tx. A supervised exercise program was offered five days per week during the inpatient period and feasibility assessed through uptake rate. The study had 100% program completion and 60% uptake rate of exercise sessions. The mean (± s.d.) weekly activity was 117.5 (± 79.3) minutes. Younger children performed significantly more minutes of exercise than adolescents. At reassessment, strength and fatigue were stabilized while aerobic fitness and balance decreased. QOL revealed a non-statistical trend towards improvement. No exercise-related adverse events were reported. A supervised inpatient exercise program is safe and feasible, with potential physiological and psychosocial benefits.

Quantifying physical activity and the associated barriers for women with ovarian cancer.

OBJECTIVE: The purpose of this study was to quantify physical activity levels and determine the barriers to physical activity for women with ovarian cancer. MATERIALS AND METHODS: Women with ovarian cancer from 3 oncology clinics enrolled in the cross-sectional study. Physical activity and barriers to physical activity were measured using the International Physical Activity Questionnaire and Perceived Physical Activity Barriers scale, respectively. Demographic, medical, and anthropometric data were obtained from medical records. RESULTS: Ninety-five women (response rate, 41%), with a mean (SD) age of 61 (10.6) years, a body mass index of 26.5 (6.8) kg/m², and 36.6 (28.2) months since diagnosis, participated in the study. The majority of the participants had stage III (32%) or IV (32%) ovarian cancer, were undergoing chemotherapy (41%), and had a history of chemotherapy (93%). The majority of the participants reduced their physical activity after diagnosis, with 19% meeting recommended physical activity guidelines. The participants undergoing treatment reported lower moderate-vigorous physical activity compared with those not undergoing active treatment (mean [SD], 42 [57] vs 104 [119] min/wk; P < 0.001) and less total physical activity barriers (mean [SD], 49 vs 47; P > 0.4). The greatest barriers to physical activity included fatigue (37.8%), exercise not in routine (34.7%), lack of self-discipline (32.6%), and procrastination (27.4%). CONCLUSIONS: Women with ovarian cancer have low levels of physical activity. There are disease-specific general barriers to physical activity participation. The majority of the participants reduced their physical activity after diagnosis, with these patients reporting a higher number of total barriers. Behavioral strategies are required to increase physical activity adherence in this population to ensure that recommended guidelines are met to achieve the emerging known benefits of exercise oncology.

An Exercise Intervention During Chemotherapy for Women With Recurrent Ovarian Cancer: A Feasibility Study.

OBJECTIVE: The aim of this study was to determine the feasibility of a combined supervised and home-based exercise intervention during chemotherapy for women with recurrent ovarian cancer. Secondary aims were to determine the impact of physical activity on physical and psychological outcomes and on chemotherapy completion rates. METHODS: Women with recurrent ovarian cancer were recruited from 3 oncology outpatient clinics in Sydney and Canberra, Australia. All participants received an individualized exercise program that consisted of 90 minutes or more of low to moderate aerobic, resistance, core stability, and balance exercise per week, for 12 weeks. Feasibility was determined by recruitment rate, retention rate, intervention adherence, and adverse events. Aerobic capacity, muscular strength, fatigue, sleep quality, quality of life, depression, and chemotherapy completion rates were assessed at weeks 0, 12, and 24. RESULTS: Thirty participants were recruited (recruitment rate, 63%), with a retention rate of 70%. Participants averaged 196 ± 138 min · wk of low to moderate physical activity throughout the intervention, with adherence to the program at 81%. There were no adverse events resulting from the exercise intervention. Participants who completed the study displayed significant improvements in quality of life (P = 0.017), fatigue (P = 0.004), mental health (P = 0.007), muscular strength (P = 0.001), and balance (P = 0.003) after the intervention. Participants completing the intervention had a higher relative dose intensity than noncompleters (P = 0.03). CONCLUSIONS: A program consisting of low to moderate exercise of 90 min · wk was achieved by two-thirds of women with recurrent ovarian cancer in this study, with no adverse events reported. Randomized control studies are required to confirm the benefits of exercise reported in this study.

Physical activity and screen-time of childhood haematopoietic stem cell transplant survivors.

AIM: Reduced bone mineral density, impaired cardiovascular fitness and increased risk of obesity are well-known late effects of haematopoietic stem cell transplantation (HSCT) in survivors of childhood cancer. These comorbidities can be mitigated through physical activity and limiting screen-time (ST). This study aims to increase the understanding of physical activity and ST behaviours for children following HSCT. METHODS: Children were recruited from two oncology follow-up clinics and completed a questionnaire on their physical activity levels and screen-time. Children were classified as short (≤2 years) and long-term (>2 years) survivors. RESULTS: Fifty-eight children were eligible, of whom forty children of age 6-18 years (60% males) participated in the study. Less than half (47.5%) met the daily recommendations for physical activity and one-third met the ST recommendations. Late survivors reported higher daily physical activity and less ST than early survivors. Among late survivors, females reported higher daily physical activity and less ST than males. CONCLUSION: Our findings suggest that the majority of children following HSCT were not sufficiently active and had excessive screen-time; however, this was comparable to healthy populations. Appropriately designed physical activity and screen-time intervention programmes should be explored early following transplant for children undergoing HSCT.

Fundamental movement skills, physical fitness and physical activity among Australian children with juvenile idiopathic arthritis.

AIM: To describe fundamental movement skills (FMS), physical fitness and level of physical activity among Australian children with juvenile idiopathic arthritis (JIA) and compare this with healthy peers. METHODS: Children aged 6-16 years with JIA were recruited from hospital rheumatology clinics and private rheumatology rooms in Sydney, Australia. All children attended an assessment day, where FMS were assessed by a senior paediatric physiotherapist, physical fitness was assessed using the multistage 20-metre shuttle run test, and physical activity and physical and psychosocial well-being were assessed with questionnaires. These results were compared with age- and gender-matched peers from the NSW Schools Physical Activity and Nutrition Survey and the Health of Young Victorians Study using logistic regression analysis. RESULTS: Twenty-eight children with JIA participated in this study. There were no differences in the proportion of children who had mastered FMS between children with JIA and their healthy peers (P > 0.05). However, there was a trend for children with JIA to have poorer physical fitness and be less physically active than healthy peers. Parents of children with JIA indicated more physical and psychosocial impairments among their children and themselves compared with parents of healthy children (P < 0.05). CONCLUSIONS: This is the first study in Australia to compare FMS, physical activity and fitness in children with JIA and their peers. While older children with JIA appear to have poorer physical fitness and physical activity levels than their peers, there is no difference in FMS.

Improved insulin sensitivity and body composition, irrespective of macronutrient intake, after a 12 month intervention in adolescents with pre-diabetes; RESIST a randomised control trial.

BACKGROUND: A higher protein to carbohydrate ratio in the diet may potentiate weight loss, improve body composition and cardiometabolic risk, including glucose homeostasis in adults. The aim of this randomised control trial was to determine the efficacy of two structured lifestyle interventions, differing in dietary macronutrient content, on insulin sensitivity and body composition in adolescents. We hypothesised that a moderate-carbohydrate (40-45% of energy), increased-protein (25-30%) diet would be more effective than a high-carbohydrate diet (55-60%), moderate-protein (15%) diet in improving outcomes in obese, insulin resistant adolescents. METHODS: Obese 10-17 year olds with either pre-diabetes and/or clinical features of insulin resistance were recruited at two hospitals in Sydney, Australia. At baseline adolescents were prescribed metformin and randomised to one of two energy restricted diets. The intervention included regular contact with the dietician and a supervised physical activity program. Outcomes included insulin sensitivity index measured by an oral glucose tolerance test and body composition measured by dual-energy x-ray absorptiometry at 12 months. RESULTS: Of the 111 adolescents recruited, 85 (77%) completed the intervention. BMI expressed as a percentage of the 95th percentile decreased by 6.8% [95% CI: -8.8 to -4.9], ISI increased by 0.2 [95% CI: 0.06 to 0.39] and percent body fat decreased by 2.4% [95% CI: -3.4 to -1.3]. There were no significant differences in outcomes between diet groups at any time. CONCLUSION: When treated with metformin and an exercise program, a structured, reduced energy diet, which is either high-carbohydrate or moderate-carbohydrate with increased-protein, can achieve clinically significant improvements in obese adolescents at risk of type 2 diabetes. TRIAL REGISTRATION: Australian New Zealand Clinical Trail Registry ACTRN12608000416392 . Registered 25 August 2008.

Low back pain in children and adolescents: a systematic review and meta-analysis evaluating the effectiveness of conservative interventions.

PURPOSE: To identify and evaluate the effectiveness of conservative treatment approaches used in children and adolescents to manage and prevent low back pain (LBP). METHODS: Five electronic databases and the reference lists of systematic reviews were searched for relevant studies. Randomised controlled trials (RCTs) were considered eligible for inclusion if they enrolled a sample of children or adolescents (<18 years old) and evaluated the effectiveness of any conservative intervention to treat or prevent LBP. Two authors independently screened search results, extracted data, assessed risk of bias using the PEDro scale, and rated the quality of evidence using the GRADE criteria. RESULTS: Four RCTs on intervention and eleven RCTs on prevention of LBP were included. All included studies had a high risk of bias scoring ≤7 on the PEDro scale. For the treatment of LBP, a supervised exercise program compared to no treatment improved the average pain intensity over the past month by 2.9 points (95 % CI 1.6-4.1) measured by a 0-10 scale (2 studies; n = 125). For the prevention of LBP, there was moderate quality evidence to suggest back education and promotion programs are not effective in reducing LBP prevalence in children and adolescents. CONCLUSIONS: While exercise interventions appear to be promising to treat LBP in children and adolescents, there is a dearth of research data relevant to paediatric populations. Future studies conducted in children and adolescents with LBP should incorporate what has been learnt from adult LBP research and be of rigorous methodological quality.

Musculoskeletal conditions in children and adolescents managed in Australian primary care.

BACKGROUND: Primary care settings play a vital role in the early detection and appropriate management of musculoskeletal conditions in paediatric populations. However, little data exist regarding these conditions in a primary care context or on the presentation of specific musculoskeletal disorders in children. The aim of this study was to estimate the caseload and describe typical management of musculoskeletal conditions in children and adolescents presenting to primary care in Australia. METHODS: An analysis of data from the Bettering the Evaluation and Care of Health (BEACH) study was performed. The BEACH study is a continuous national study of general practice (GP) activity in Australia. We identified all GP encounters with children and adolescents over the past five years and extracted data on demographic details, the problems managed, and GP management of each problem. SAS statistical software was used to calculate robust proportions and after adjustment for the cluster, the 95% confidence intervals (CIs). RESULTS: From the period April 2006 to March 2011, there were 65,279 encounters with children and adolescents in the BEACH database. Of the 77,830 problems managed at these encounters, 4.9% (95%CI 4.7% to 5.1%) were musculoskeletal problems. The rate of musculoskeletal problems managed increased significantly with age, however there was a significant decrease for girls aged 15-17 years. Upper and lower limb conditions were the most common, followed by spine and trunk conditions. Spine and trunk conditions were significantly more likely to be managed with medication, but less likely to receive imaging, than upper or lower limb problems. CONCLUSIONS: Musculoskeletal problems in children and adolescents present a significant burden and an important challenge to the primary health care system in Australia. There is variability in rates of presentation between different age groups, gender and affected body region.

A feasibility study of the effect of intra-articular corticosteroid injection on isokinetic muscle strength in children with juvenile idiopathic arthritis.

This study assessed the magnitude of changes in isokinetic muscle strength in children with juvenile idiopathic arthritis (JIA) before and after treatment with intra-articular corticosteroid injection and assessed the feasibility of a larger study of the same effect. Isokinetic dynamometry was used to measure peak knee extension and flexion torque in 12 children before and after treatment for unilateral knee arthritis. Extensor and flexor strength was reduced on the affected side before treatment (-0.56 Nm/kg, p = .004 and -0.24 Nm/kg, p = .02 respectively). Increases in extensor strength were observed at two weeks (p = .01) and twelve weeks postinjection (p = .03). Improvements at 6 weeks approached but did not reach statistical significance (p = .17). Improvements in flexor strength were not observed until 12 weeks postinjection (p = .03). Despite significant improvements in extensor strength, low peak knee extensor torque continued to be observed at 12 weeks (p = .01). Knee extensor and flexor strength is reduced in children with JIA with active arthritis and improves following intra-articular corticosteroid injection. Significant improvements in knee extensor and flexor strength were seen postinjection; however deficits in extensor strength were still evident at three months. Isokinetic dynamometry was safe and well tolerated in our sample of children with JIA with active arthritis.

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.

Association between physical activity and risk of bleeding in children with hemophilia.

CONTEXT: Vigorous physical activity is thought to increase risk of bleeds in children with hemophilia, but the magnitude of the risk is unknown. OBJECTIVE: To quantify the transient increase in risk of bleeds associated with physical activity in children with hemophilia. DESIGN, SETTING, AND PARTICIPANTS: A case-crossover study nested within a prospective cohort study was conducted at 3 pediatric hemophilia centers in Australia between July 2008 and October 2010. A total of 104 children and adolescent boys aged 4 through 18 years with moderate or severe hemophilia A or B were monitored for bleeds for up to 1 year. Following each bleed, the child or parent was interviewed to ascertain exposures to physical activity preceding the bleed. Physical activity was categorized according to expected frequency and severity of collisions. The risk of bleeds associated with physical activity was estimated by contrasting exposure to physical activity in the 8 hours before the bleed with exposures in two 8-hour control windows, controlling for levels of clotting factor in the blood. MAIN OUTCOME MEASURES: Association of physical activity and factor level with risk of bleeding. RESULTS: The participants were observed for 4839 person-weeks during which time 436 bleeds occurred. Of these, 336 bleeds occurred more than 2 weeks after the preceding bleed and were used in the primary analysis of risk. Compared with inactivity and category 1 activities (eg, swimming), category 2 activities (eg, basketball) were associated with a transient increase in the risk of bleeding (30.6% of bleed windows vs 24.8% of first control windows; odds ratio, 2.7; 95% CI, 1.7-4.8, P < .001). Category 3 activities (eg, wrestling) were associated with a greater transient increase in risk (7.0% of bleed windows vs 3.4% of first control windows; odds ratio, 3.7; 95% CI, 2.3-7.3, P < .001). To illustrate absolute risk increase, for a child who bleeds 5 times annually and is exposed on average to category 2 activities twice weekly and to category 3 activities once weekly, exposure to these activities was associated with only 1 of the 5 annual bleeds. For every 1% increase in clotting factor level, bleeding incidence was lower by 2% (95% CI, 1%-3%; P = .004). CONCLUSIONS: In children and adolescents with hemophilia, vigorous physical activity was transiently associated with a moderate relative increase in risk of bleeding. Because the increased relative risk is transient, the absolute increase in risk of bleeds associated with physical activity is likely to be small.

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.

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.