Search

Introduction: Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles., Methods and Analysis: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms., Ethics and Dissemination: To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters)., Competing Interests: Competing interests: In the past 3 years, TC has served as a paid consultant to F. Hoffmann-La Roche and Servier and has received royalties from Sage Publications and Guilford Publications. DGMM has received funding for a PhD studentship from Compass, and for consulting from Jaguar Therapeutics and Hoffman Le Roche. GM receives funding for an investigator-initiated study from Compass Pathways; no financial or other conflict of interest with the present study. SB discloses that he has in the last 3 years acted as an author, consultant, or lecturer for Medice, Roche and Linus Biotechnology. SB receives royalties for textbooks and diagnostic tools from Hogrefe, UTB, Ernst Reinhardt, Kohlhammer, and Liber, and is a partner at NeuroSupportSolutions International AB. CC is a full-time employee of Genentech and owns stocks or RSUs in Roche Holdings. MA is the UK chief investigator for a trial sponsored by Roche (a phase II, randomised, double-blind, placebo-controlled, parallel group study to evaluate the safety, efficacy and pharmacodynamics of 52 weeks of treatment with basmasanil in participants aged 2–14 years old with dup15q syndrome followed by a 2-year optional open-label extension). LB served on an advisory board to Kingdom therapeutics in 2022., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Introduction: Ankle sprains are common injuries within the civilian and military populations, with lingering symptoms that include pain, swelling, giving-way, and a high likelihood for recurrence. Numerous bracing systems are available to stabilize the ankle joint following sprains, with new design iterations frequently entering the market. Currently available braces generally include sleeve, lace-up, and stirrup designs. Sleeves provide mild compression and warmth but limited stability for the ankle, while lace-ups and stirrups appear to be more effective at preventing and treating lateral ankle sprains., Areas Covered: This review summarizes the use of various brace options in practice. Their major clinical benefits, and limitations are highlighted, followed by an overview of emerging concepts in brace design. Current advancements in biomechanical simulation, multifunctional material fabrication, and wearable, field-deployed devices for human injury surveillance are discussed, providing possibilities for conceiving new design concepts for next-generation smart ankle braces., Expert Opinion: Performance of the commercially available braces are limited by their current design concepts. Suggestions on future brace design include: (1) incorporating high-performance materials suitable for extreme environments, (2) leveraging modeling and simulation techniques to predict mechanical support requirements, and (3) implementing adaptive, customizable componentry material to meet the needs of each unique patient.

Background: Physical therapy (PT) is frequently used for the management of low back pain (LBP) within the US Departments of Defense (DOD) and Veterans Affairs (VA). However, variations in PT practice patterns and use of ineffective interventions lower the quality and increase the cost of care. Although adherence to the clinical practice guidelines (CPGs) can improve the outcomes and cost-effectiveness of LBP care, PT CPG adherence remains below 50%. The Resolving the Burden of Low Back Pain in Military Service Members and Veterans (RESOLVE) trial will evaluate the effectiveness of an active PT CPG implementation strategy using an education, audit, and feedback model for reducing pain, disability, medication use, and cost of LBP care within the DOD and VA health care systems., Design: The RESOLVE trial will include 3,300 to 7,260 patients with LBP across three DOD and two VA medical facilities using a stepped-wedge study design. An education, audit, and feedback model will be used to encourage physical therapists to better adhere to the PT CPG recommendations. The Oswestry Disability Index and the Defense and Veterans Pain Rating Scale will be used as primary outcomes. Secondary outcomes will include the LBP-related medication use, medical resource utilization, and biopsychosocial predictors of outcomes. Statistical analyses will be based on the intention-to-treat principle and will use linear mixed models to compare treatment conditions and examine the interactions between treatment and subgrouping status (e.g., limb loss)., Summary: The RESOLVE trial will provide a pragmatic approach to evaluate whether better adherence to PT CPGs can reduce pain, disability, medication use, and LBP care cost within the DOD and VA health care systems., (Published by Oxford University Press on behalf of the American Academy of Pain Medicine 2020.This work is written by US Government employees and is in the public domain in the US.)

Background: Pilon fractures are high-energy fractures about the ankle observed commonly in both civilian and military trauma populations. Despite surgical management, outcomes are predictably poorly characterized by functional deficits secondary to pain and stiffness. The Intrepid Dynamic Exoskeletal Orthosis (IDEO) and Return-to-Run clinical pathway were initially designed to treat military service members after complex battlefield lower extremity injuries. The IDEO has been used to treat nonbattlefield injuries, but, to our knowledge, it has not been studied specifically among patients with pilon fractures. By studying the use of the IDEO in this patient population, we hope to learn how it might improve ambulation in the community, relieve pain, and return patients to work to better identify patients who might benefit from its use., Questions/purposes: The purpose of this study was to determine whether the IDEO would improve gait parameters including velocity, cadence, stride length, and single-leg stance duration in patients with pilon fractures. Our secondary endpoints of interest were reductions in pain and return to duty., Methods: A prospectively collected database of all active-duty IDEO users at a single institution was queried for all patients using the IDEO after a pilon fracture. Patients were included if they were using the IDEO after sustaining a surgically treated pilon fracture and had exhausted all nonoperative therapies. Exclusions were patients with an incomplete gait analysis at the two study time points. Seven patients meeting these criteria were identified. Three-dimensional gait analysis was performed two times: first wearing shoes at a self-selected speed and second after a custom-made IDEO was fabricated for the patient and completion of the Return-to-Run pathway. Patients reported their average pain while ambulating using a numeric rating scale. Gait variables of interest were velocity, cadence, stride length, and single stance time. Return to military service was assessed through the military medical record. To return to duty, a service-specific physical readiness test must be completed., Results: Median gait velocity improved from 1.1 (interquartile range [IQR], 0.9-1.2) to 1.3 m/s (IQR, 1.2-1.5; p = 0.01). All other variables did not change: cadence 98.4 (IQR, 93.0-107.2) to 104.5 steps/min (IQR, 103.0-109.0; p = 0.13), affected stride length 1.3 (IQR, 1.0-1.4 m) to 1.4 m (IQR, 1.3-1.6 m; p = 0.07), and affected single stance 0.42 (IQR, 0.41-0.47) to 0.43 (IQR, 0.42-0.44; p = 0.80). Pain did not change between time points: 3 (IQR, 2-3) to 2.5 (IQR, 1-3.5; p = 0.90). Three of seven patients returned to duty., Conclusions: At self-selected walking speeds, we observed no improvements in gait parameters or pain after application of the IDEO that would likely be considered clinically important, and so the device is unlikely to be worth the cost in this setting. It is possible that for higher demand users such as elite athletes, the IDEO could have a role after severe lower extremity trauma; however, this must be considered speculative until or unless proven in future studies., Level of Evidence: Level III, therapeutic study.