Development of a functional outcome measure for riboflavin transporter deficiency.

BACKGROUND AND AIMS: Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD. However, the CMTPedS requires modifications to account for phenotypic differences between children with CMT and RTD. The aim of this study was to develop a functional outcome measure based on the CMTPedS for specific use in individuals with RTD. METHODS: The CMTPedS data collected over the last 10 years in individuals with RTD attending the Peripheral Neuropathy Management Clinic at the Children's Hospital at Westmead (Sydney, Australia) were reviewed to evaluate each item within the CMTPedS. A literature review of articles published until September 2021 for functional outcome measures generated an item pool for pilot testing. The results of this pilot testing, alongside analysis of existing CMTPedS item scores in the RTD cohort, informed the modification of the CMTPedS. RESULTS: CMTPedS data were reviewed for eight individuals over the past 10 years. Two items were identified as requiring modification or removal and additional items of proximal strength and function needed to be considered. Six studies were identified in the literature review, and five items were selected for pilot testing. 'Shoulder internal rotation' and the '30-s sit to stand test' were added as proximal measures of strength and function. The composite balance item comprising nine tasks in the CMTPedS showed a ceiling effect and was replaced with the single 'Feet apart on a line eyes open' balance item. 'Pinprick sensation' was removed due to a floor effect. INTERPRETATION: This study provides preliminary evidence that the Riboflavin Transporter Deficiency Pediatric Scale (RTDPedS) is a functional outcome measure covering strength, upper and lower limb function, balance and mobility for individuals with RTD to assess disease severity and progression in clinical trials and cohort studies.

Effects of sport or physical recreation for adults with physical or intellectual disabilities: a systematic review with meta-analysis.

OBJECTIVES: To evaluate the effects of sport or physical recreation on participation, mobility and quality of life for adults living with disabilities. DESIGN: Systematic review with meta-analysis. DATA SOURCES: Six databases searched from inception to May 2022. ELIGIBILITY CRITERIA: Randomised controlled trials including adults living with a physical or intellectual disability, comparing sport or physical recreation to non-active control. RESULTS: Seventy-four trials (n=2954; mean age 55 years) were included. Most (70) trials included people with physical disabilities, none evaluated sport and the most common physical recreation activities tested were traditional Chinese exercise (35%), yoga (27%) and dance (18%). Mean frequency and duration was 65 min/session, two times per week for 13 weeks. Most (86%) interventions were led by people with experience and/or training in the recreation activity, and only 37% reported leader experience and/or training working with people with disabilities. Participation was measured as attendance (mean 81%, 30 intervention groups). Physical recreation improved mobility (standardised mean difference (SMD) 0.38, 95% CI 0.07 to 0.69, n=469) and walking endurance (mean difference (MD) 40.3 m, 95% CI 19.5 to 61.1, n=801) with low certainty evidence and balance (Berg Balance Scale, range 0-56 points; MD 3.4 points, 95% CI 2.3 to 4.4, n=906) and quality of life (physical health; SMD 0.37, 95% CI 0.02 to 0.72, n=468) with very low certainty evidence, but not walking speed (MD 0.03 m/s, 95% CI -0.05 to 0.11, n=486). CONCLUSION: Physical recreation may confer multiple benefits for people living with disabilities regardless of the activity chosen, thus offering a potentially enjoyable and scalable strategy to increase physical activity. PROSPERO REGISTRATION NUMBER: CRD42018104379.

Advances in Hand Therapy: Best Practice in Conservative Management of Proximal Phalangeal Fractures in Children.

BACKGROUND: Proximal phalangeal fractures are one of the most commonly treated hand injuries in children. Conservative management of these fractures is often to splint for 5 weeks post injury, despite children presenting as clinically healed at 3 weeks post injury. Therefore, we investigated the effect of splinting for only 3 weeks in children who present with clinically healed proximal phalangeal fractures at 3 weeks compared with usual care. METHODS: Participants (n=80, aged 10.3 ±2.5 years) presenting to the Hand Clinic of a tertiary Children's Hospital in Sydney, Australia, were randomly allocated into a Current Protocol and a New Protocol group. Following were the inclusion criteria: aged between 5 and 16 years; present with an non-displaced or minimally displaced and stable fracture; no surgical intervention; assessed as clinically healed at 3-week visit. The primary outcome measure was total active motion (TAM) of the injured digit compared with the contralateral digit (deg), at 5 weeks post injury. Secondary outcome measures were grip strength, and a parent-reported questionnaire. Statistical analysis used χ 2 test and the absolute difference described by a 90% CI. The New Protocol was considered noninferior if the 90% CI overlap was > 20% of the Current Protocol. Analysis was by intention to treat. RESULTS: There was a 10% loss to follow up at 5 weeks (Current Protocol =4, New Protocol =4). All CIs between groups overlapped by >10%. TAM 90% CI for Current Protocol was 17.7 to 5.4 degrees and for the New Protocol was 4.7 to 1.6 degrees. CONCLUSIONS: A change in practice is warranted to cease immobilization for children with conservatively managed proximal phalangeal fractures who present as clinically healed at 3 weeks. Therapist assessment of fracture healing is an appropriate indicator for intervention and can be utilized in a therapist-led model of care. LEVEL OF EVIDENCE: Level 1-noninferiority randomized control trial with 2 parallel arms.

Variability between Different Hand-Held Dynamometers for Measuring Muscle Strength.

Muscle strength is routinely measured in patients with neuromuscular disorders by hand-held dynamometry incorporating a wireless load cell to evaluate disease severity and therapeutic efficacy, with magnitude of effect often based on normative reference values. While several hand-held dynamometers exist, their interchangeability is unknown which limits the utility of normative data. We investigated the variability between six commercially available dynamometers for measuring the isometric muscle strength of four muscle groups in thirty healthy individuals. Following electro-mechanical sensor calibration against knowns loads, Citec, Nicholas, MicroFET2, and Commander dynamometers were used to assess the strength of ankle dorsiflexors, hip internal rotators, and shoulder external rotators. Citec, Jamar Plus, and Baseline Hydraulic dynamometers were used to capture hand grip strength. Variability between dynamometers was represented as percent differences and statistical significance was calculated with one-way repeated measures ANOVA. Percent differences between dynamometers ranged from 0.2% to 16%. No significant differences were recorded between the Citec, Nicholas, and MicroFET2 dynamometers (p > 0.05). Citec grip strength measures differed to the Jamar Plus and Baseline Hydraulic dynamometers (p < 0.01). However, when controlling for grip circumference, they were comparable (p > 0.05). Several hand-held dynamometers can be used interchangeably to measure upper and lower limb strength, thereby maximising the use of normative reference values.

Financial burden of anterior cruciate ligament reconstructions in football (soccer) players: an Australian cost of injury study.

OBJECTIVES: To estimate the financial burden of anterior cruciate ligament (ACL) reconstructions in amateur football (soccer) players in Australia over a single year, including both direct and indirect cost. METHODS: Available national direct and indirect cost data were applied to the annual incidence of ACL reconstructions in Australia. Age-adjusted and sex-adjusted total and mean costs (ACL and osteoarthritis (OA)) were calculated for amateur football (soccer) players in Australia using an incidence-based approach. RESULTS: The estimated cost of ACL reconstructions for amateur football players is $A69 623 211 with a mean total cost of $A34 079. The mean indirect costs are 19.8% higher than the mean direct costs. The mean indirect costs are lower in female (11.5%, $A28 628) and junior (15.3%, $A29 077) football players. The mean ACL costs are 3-4-fold greater than the mean OA costs ($A27 099 vs $A6450, respectively), remaining consistent when stratified by sex and age group. Our model suggests that for every 10% increase in adherence to injury prevention programmes, which equates to approximately 102 less ACL injuries per year, $A9 460 224 in ACL costs could be saved. CONCLUSION: While the number of ACL reconstructions per year among football players in Australia is relatively small, the annual financial burden is high. Our study suggests that if injury prevention exercises programmes are prioritised by stakeholders in football, significant cost-savings are possible.

Do Cutting Kinematics Change as Boys Mature? A Longitudinal Cohort Study of High-School Athletes.

OBJECTIVE: Examine longitudinal changes in trunk, hip, and knee kinematics in maturing boys during an unanticipated cutting task. DESIGN: Prospective cohort study. SETTING: Biomechanical laboratory. PARTICIPANTS: Forty-two high-school male basketball, volleyball, and soccer athletes. ASSESSMENT OF RISK FACTORS: Trunk, hip, and knee range-of-motion (RoM), peak angles, and angles at initial contact during an unanticipated 45 degrees sidestep cutting task were estimated using laboratory-based three-dimensional optoelectronic motion capture. Maturation was classified using a modified Pubertal Maturational Observational Scale (PMOS) into prepubertal, midpubertal, or postpubertal stages. MAIN OUTCOME MEASURES: Trunk total RoM in frontal, sagittal, and transverse planes; peak trunk flexion, right lateral flexion and right rotation angles; hip total RoM in frontal, sagittal, and transverse planes; hip flexion angle at initial contact; peak hip flexion and adduction angles; knee total RoM in frontal, sagittal, and transverse planes; knee flexion angle at initial contact; peak knee flexion and abduction angles. RESULTS: As boys matured, there was a decrease in hip sagittal-plane RoM (49.02 degrees to 43.45 degrees, Benjamini-Hochberg adjusted P = 0.027), hip flexion at initial contact (29.33 degrees to 23.08 degrees, P = 0.018), and peak hip flexion (38.66 degrees to 32.71 degrees, P = 0.046), and an increase in trunk contralateral rotation (17.47 degrees to 25.05 degrees, P = 0.027). CONCLUSIONS: Maturing male athletes adopted a more erect cutting strategy that is associated with greater knee joint loading. Knee kinematic changes that increase knee joint loading were not observed in this cohort.

Normative Reference Values for Knee Extensor Muscle Rate of Torque Development and Torque Steadiness in Adolescents and Adults.

OBJECTIVE: The aim of this study was to establish reference values for rate of torque development (RTD) and muscle torque steadiness (MTS) of knee extensors across the lifespan, and evaluate if these measures are independently associated with Osteoarthritis Research Society International (OARSI)-recommended performance-based measures (6-minute walk test, 30-second chair stand test, stair climb test) and other clinical variables. METHODS: In this cross-sectional observational study, knee extensor strength of 764 participants (12-89 years) from the 1000 Norms Project was assessed via fixed dynamometry. Age- and sex-stratified normative RTD (Nms-1 kg-1) and MTS (Nm kg-1) values were presented as means and 95% confidence intervals. Correlations and multiple regression analyses were calculated to identify factors (age, sex, height, weight, OARSI-recommended performance-based measures, Knee Injury and Osteoarthritis Outcome Score, vertical jump, long jump, grip strength, basic gait-related knee biomechanics) independently associated with RTD or MTS. RESULTS: Age- and sex-stratified normative RTD and MTS reference values were generated. Male subjects exhibited higher RTD but poorer MTS (less steady) than female subjects across all age groups. Better performance in OARSI-recommended performance-based measures, vertical jump, long jump, and grip strength were associated with greater RTD but poorer MTS. Thirty-second chair stand test, stair climb test, vertical jump, long jump, and grip strength were independent determinants of RTD and MTS. CONCLUSIONS: The RTD and MTS demonstrated associations with clinical variables relevant to knee osteoarthritis. The normative reference values generated may help identify the presence and extent of impairments in RTD and MTS associated with knee osteoarthritis and assist in developing responsive outcome measures for therapeutic trials.

L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.

Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. The aim of this study is to examine whether daily L-carnitine supplementation is safe and feasible, and will improve muscle strength and reduce fatigue in children with NF1. A 12-week Phase 2a trial was conducted using 1000 mg daily oral levocarnitine tartrate supplementation. Recruited children were between 8 and 12 years old with a clinical diagnosis of NF1, history of muscle weakness and fatigue, and naïve to L-carnitine. Primary outcomes were safety (self-reporting, biochemical testing) and compliance. Secondary outcomes included plasma acylcarnitine profiles, functional measures (muscle strength, long jump, handwriting speed, 6-minute-walk test [6MWT]), and parent-reported questionnaires (PedsQL™, CBCL/6-18). Six children completed the trial with no self-reported adverse events. Biochemical tests for kidney and liver function were normal, and the average compliance was 95%. Plasma acylcarnitine levels were low, but within a range not clinically linked to carnitine deficiency. For strength measures, there was a mean 53% increase in dorsiflexion strength (95% confidence interval [CI] 8.89-60.75; p = 0.02) and mean 66% increase in plantarflexion strength (95% CI 12.99-134.1; p = 0.03). In terms of muscle performance, there was a mean 10% increase in long jump distance (95% CI 2.97-16.03; p = 0.01) and 6MWT distance (95% CI 5.88-75.45; p = 0.03). Comparison with the 1000 Norms Project data showed a significant improvement in Z-score for all of these measures. Parent reports showed no negative impact on quality of life, and the perceived benefits led to the majority of individuals remaining on L-carnitine after the study. Twelve weeks of L-carnitine supplementation is safe and feasible in children with NF1, and a Phase 3 trial should confirm the efficacy of treatment.

Correlates of night-time and exercise-associated lower limb cramps in healthy adults.

INTRODUCTION/AIMS: We explored correlates of night-time and exercise-associated lower limb cramps in participants of the 1000 Norms Project. METHODS: A volunteer community sample of healthy people aged ≥18 y underwent assessment of motor function and physical performance, and were questioned about muscle cramps in the previous 3 mo. RESULTS: Of 491 (221 female) participants age 18-101 y (mean: 59.12; SD: 18.03), about 1 in 3 experienced night-time lower limb cramps, and about 1 in 4 experienced exercise-associated lower limb cramps. For night-cramps, a one unit increase in Beighton score (greater whole-body flexibility) was associated with a 31% reduced odds of cramps (odds ratio [OR] = 0.69, 95% confidence interval [CI]:0.45, 0.99) and passing all three lesser-toe strength tests was associated with 50% reduced odds of cramps (OR = 0.50, 95% CI: 0.32, 0.78). For exercise-associated cramps, participants in the fourth (lowest arch) quartile of Foot Posture Index were 2.1 times (95% CI: 1.11, 3.95) more likely to experience cramps than participants in the first (highest arch) quartile. Odds of experiencing both types of cramps versus no cramps were lower with passing all three lesser-toe strength tests (OR = 0.40, 95% CI: 0.19, 0.85) and better performance in the six-minute walk test (OR = 0.997, 95% CI: 0.996, 0.998). DISCUSSION: People who experienced both exercise-associated and night-time cramps were less functional. The association between night-time cramps with less whole-body flexibility and reduced lesser-toe flexor strength should be explored to determine causation. Planovalgus (low-arched) foot type was independently associated with exercise-associated cramps. The effectiveness of foot orthoses for secondary prevention of exercise-associated cramps in people with low-arched feet should be explored.

12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.

BACKGROUND: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-mo performance was an improvement in 6MWT in children 3-6 y old (P = .008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 y. Participants with CTG repeat lengths <500 did not perform differently than those with repeat lengths >1000. CONCLUSIONS: The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 y old and <3 y is warranted, but this new information will assist planning of clinical trials in the CDM population.

Limitations of 6-minute walk test reference values for spinal muscular atrophy.

INTRODUCTION: The 6-minute walk test (6MWT) is a well-established clinical assessment of functional endurance, validated as a measure of walking ability in spinal muscular atrophy (SMA). The current availability of disease-modifying therapies for SMA indicates a growing need for normative reference data to compare SMA patients with healthy controls. METHODS: The literature was searched in two scientific databases. Studies were evaluated and selected based on adherence to American Thoracic Society guidelines for administering the 6MWT. Reference equations from the selected studies were applied to 6MWT data collected from SMA patients to calculate and compare % predicted values. RESULTS: Three pediatric and six adult studies were selected for comparison. The % predicted values using the pediatric and adult equations ranged from 47.7 ± 18.2% to 67.6 ± 26.2% and 43.0 ± 17.9% to 59.5 ± 26.2%, respectively, and were significantly different (P < 0.001). DISCUSSION: Results suggest significant variability between % predicted values derived from published reference equations in children and adults, despite adherence to 6MWT standardization.

Normative reference values and physical factors associated with work ability: a cross-sectional observational study.

OBJECTIVES: To establish normative reference values for work ability in healthy Australian adults using the Work Ability Score and investigate the association of physical performance factors. METHODS: The Work Ability Score was collected from 720 participants aged 18-101 years from the 1000 Norms Project. Physical performance was evaluated by assessing isometric strength of 13 muscle groups; flexibility of six joints; and 11 functional measures categorised as gross motor, fine motor and balance tasks. Correlations and multiple regression analyses were performed to identify physical performance factors independently associated with work ability. RESULTS: Age-stratified reference values were generated for work ability. Work ability increased during young adulthood (18-44 years) and declined from middle adulthood (45-64 years) into older adulthood (≥65 years), with no sex differences. Greater gross motor function and balance correlated with work ability (r=-0.498 to -0.285; p<0.001). Multiple regression identified younger age, being employed and a faster timed up and down stairs test as significant independent factors associated with work ability (r2=0.333, p<0.001). CONCLUSIONS: Reference data can be used to identify individuals with low work ability. This study has identified physical factors associated with work ability that can potentially be targeted to maintain longevity in work. Physical tests such as the timed up and down stairs test may assist in the development of objective job-specific screening tools to assess work ability, supplementing subjective evaluation.

Beighton scores and cut-offs across the lifespan: cross-sectional study of an Australian population.

Objectives: The primary aim of this study was to evaluate generalized joint hypermobility (GJH) according to the Beighton scoring system in an Australian population. Secondary aims were to identify whether the commonly used Beighton score cut-off of ⩾4 is appropriate, and to suggest age- and sex-specific Beighton score cut-offs across the lifespan. Methods: A thousand individuals aged 3-101 years were assessed for GJH with the Beighton scoring system. Differences between age, sex and ethnicity were investigated. The appropriateness of the ⩾4 cut-off was investigated with use of a binary logistic regression. Each Beighton score cut-off was established as the nearest Beighton score that delineated the uppermost 5% of the population. Results: Overall, females and non-Caucasians had higher Beighton scores across the lifespan (P < 0.001). Based on a binary logistic regression model, if a cut-off of ⩾4 was utilized, the Beighton scoring system demonstrated a sensitivity of 0.8% and a specificity of 99.3% (P < 0.001). A cut-off of ⩾4 was only found to be appropriate for females aged 40-59 years and males aged 8-39 years. Conclusion: Beighton scores varied across the lifespan and were significantly influenced by age, sex and ethnicity. Assessing GJH using the Beighton scoring system required age- and sex-specific cut-off scores based on the uppermost 5% values. This was confirmed by the low sensitivity, high specificity and 60% false-positive rate if a cut-off of ⩾4 was used for both sexes across the lifespan. To lower the risk of a false-positive diagnosis of GJH, further tests of hypermobility need to be utilized.

Repeatability, consistency, and accuracy of hand-held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults.

INTRODUCTION: Hand-held dynamometry (HHD) is commonly used to measure ankle plantarflexion strength but has variable reliability measuring higher forces. Fixed HHD is suggested to improve reliability. We, therefore, compared the reliability, consistency, and accuracy of measuring plantarflexion strength. METHODS: Plantarflexion strength was measured in 25 healthy individuals with fixed HHD and HHD alone. Intraclass correlation coefficients (ICC2,2 ), SEM, minimal detectable change, and Spearman correlation coefficients were calculated to assess inter-trial repeatability, consistency, agreement, and accuracy. RESULTS: Both methods were repeatable (ICC2,2 0.96 to 0.98) and highly correlated (Spearman rho = 0.815; P < 0.01). Fixed HHD produced significantly higher force outputs. HHD alone provided more consistent force values. CONCLUSIONS: Both methods of measuring ankle plantarflexion force were reliable. Force measured with fixed HHD will likely be more accurate for adults and individuals with greater strength, while HHD alone will be more consistent for individuals with lower strength. Muscle Nerve 56: 896-900, 2017.

Correlates of Perceived Ankle Instability in Healthy Individuals Aged 8 to 101 Years.

OBJECTIVES: To provide reference data for the Cumberland Ankle Instability Tool (CAIT) and to investigate the prevalence and correlates of perceived ankle instability in a large healthy population. DESIGN: Cross-sectional observational study. SETTING: University laboratory. PARTICIPANTS: Self-reported healthy individuals (N=900; age range, 8-101y, stratified by age and sex) from the 1000 Norms Project. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Participants completed the CAIT (age range, 18-101y) or CAIT-Youth (age range, 8-17y). Sociodemographic factors, anthropometric measures, hypermobility, foot alignment, toes strength, lower limb alignment, and ankle strength and range of motion were analyzed. RESULTS: Of the 900 individuals aged 8 to 101 years, 203 (23%) had bilateral and 73 (8%) had unilateral perceived ankle instability. The odds of bilateral ankle instability were 2.6 (95% confidence interval [CI], 1.7-3.8; P<.001) times higher for female individuals, decreased by 2% (95% CI, 1%-3%; P=.001) for each year of increasing age, increased by 3% (95% CI, 0%-6%; P=.041) for each degree of ankle dorsiflexion tightness, and increased by 4% (95% CI, 2%-6%, P<.001) for each centimeter of increased waist circumference. CONCLUSIONS: Perceived ankle instability was common, with almost a quarter of the sample reporting bilateral instability. Female sex, younger age, increased abdominal adiposity, and decreased ankle dorsiflexion range of motion were independently associated with perceived ankle instability.

The association between musculoskeletal pain during pregnancy and pregnancy outcomes: A systematic review and meta-analyses.

OBJECTIVE: To systematically investigate the association between musculoskeletal pain during pregnancy and birth outcomes including caesarean section, newborn birthweight, newborn birth length, and gestational age at birth. METHODS: Medline, Embase, Web of Science, Cinahl and Scopus were systematically searched to identify eligible studies. Odds ratios, mean differences, and confidence intervals were used to describe results. Risk of Bias was assessed using the Newcastle-Ottawa Scale for observational studies. GRADE (The Grading of Recommendation Assessment, Development, and Evaluation) was used to assess the quality of each outcome. RESULTS: Seven studies were included with a total population of 85,991 participants. There is low- quality evidence that pregnant women with musculoskeletal pain had 1.59 greater odds to experience delivery by caesarean section compared to those without musculoskeletal pain ([OR] 1.59, 95 % confidence interval [CI] 1.09 to 2.31). Both newborn birth weight (Mean Difference [MD] 77.79 g, 95 % [CI] -23.09 to 178.67) and newborn birth length ([MD] 0.55 cm, 95 % [CI] -0.47 to 1.56) were not affected by musculoskeletal pain, with very low-quality and low-quality evidence, respectively. There was moderate evidence that pregnant women with musculoskeletal pain had shorter gestational age (weeks), although the effect was small and possibly not clinically relevant ([MD] -0.41, 95 % [CI] -0.41 to -0.07). CONCLUSION: Pregnant women experiencing musculoskeletal pain are at greater odds of delivering their babies via caesarean than those without musculoskeletal pain, however, musculoskeletal pain during pregnancy does not appear to affect newborn birth weight, length, or gestational age at birth.

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

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

Development of a patient decision aid for children and adolescents following anterior cruciate ligament rupture: an international mixed-methods study.

AIM: To develop and user test an evidence-based patient decision aid for children and adolescents who are considering anterior cruciate ligament (ACL) reconstruction. DESIGN: Mixed-methods study describing the development of a patient decision aid. SETTING: A draft decision aid was developed by a multidisciplinary steering group (including various types of health professionals and researchers, and consumers) informed by the best available evidence and existing patient decision aids. PARTICIPANTS: People who ruptured their ACL when they were under 18 years old (ie, adolescents), their parents, and health professionals who manage these patients. Participants were recruited through social media and the network outreach of the steering group. PRIMARY AND SECONDARY OUTCOMES: Semistructured interviews and questionnaires were used to gather feedback on the decision aid. The feedback was used to refine the decision aid and assess acceptability. An iterative cycle of interviews, refining the aid according to feedback and further interviews, was used. Interviews were analysed using reflexive thematic analysis. RESULTS: We conducted 32 interviews; 16 health professionals (12 physiotherapists, 4 orthopaedic surgeons) and 16 people who ruptured their ACL when they were under 18 years old (7 were adolescents and 9 were adults at the time of the interview). Parents participated in 8 interviews. Most health professionals, patients and parents rated the aid's acceptability as good-to-excellent. Health professionals and patients agreed on most aspects of the decision aid, but some health professionals had differing views on non-surgical management, risk of harms, treatment protocols and evidence on benefits and harms. CONCLUSION: Our patient decision aid is an acceptable tool to help children and adolescents choose an appropriate management option following ACL rupture with their parents and health professionals. A clinical trial evaluating the potential benefit of this tool for children and adolescents considering ACL reconstruction is warranted.

Insurance cost and injury characteristics of anterior cruciate ligament injuries in sub-elite football: A population analysis involving 3 years of Australian insurance data.

OBJECTIVES: To investigate the injury characteristics and insurance cost of anterior cruciate ligament injuries in sub-elite football players in New South Wales, Australia. DESIGN: Descriptive epidemiological study. METHODS: Three years of insurance records (2018-2020) was used to describe anterior cruciate ligament injury costs and characteristics. Concomitant injuries and the mechanism of injury were determined by analysing the injury descriptions. Claim characteristics and costs are presented by age group (junior = 7-17 years, senior = 18-34 years, and veteran = 35 + years) and sex. Categorical data (including age-groups and sex) are presented as counts and percentages and analysed using a Chi squared or Fisher's exact test. Cost data are reported as means ±â€¯standard deviation with 95 % confidence intervals. RESULTS: Over the course of three football seasons (2018-2020), 786 anterior cruciate ligament injuries were reported to the injury insurance company. The total insurance cost was AU$3,614,742 with direct injury insurance costs accounting for 36.3 % of the total costs. The mean indirect insurance costs were six-fold higher than direct insurance costs (AU$11,458 vs AU$1914). Isolated injuries had an average cost of $4466 whilst concomitant injuries had an average cost of $4951. Surgical costs are excluded from direct cost calculations. The peak injury count occurred in the first month of all three football seasons, immediately after the pre-season. CONCLUSIONS: Anterior cruciate ligament injuries represent a substantial economic burden to the insurer and individual. The cost data provided can be used for future economic and modelling studies.