Deficits in movement patterns during cutting while running might place soccer players at risk of injury. The objective was to compare joint angles and intersegment coordination between sexes and ages during an unanticipated side-step cutting task in soccer players. This cross-sectional study recruited 11 male (four adolescents and seven adults) and 10 female (six adolescents and four adults) soccer players. Three-dimensional motion capture was used to measure lower-extremity joint and segment angles as participants performed an unanticipated cutting task. Hierarchical linear models examined relationships between joint angle characteristics with age and sex. Continuous relative phase was used to quantify intersegment coordination amplitude and variability. These values were compared between age and sex groups using analysis of covariance. Adult males had greater hip flexion angle excursions than adolescent males, while adult females had smaller excursions than adolescent females (p = .011). Females had smaller changes in hip flexion angles (p = .045), greater hip adduction angles (p = .043), and greater ankle eversion angles (p = .009) than males. Adolescents had greater hip internal rotation (p = .044) and knee flexion (p = .033) angles than adults, but smaller changes in knee flexion angles at precontact compared with stance/foot off (p < .001). For intersegment coordination, females were more out-of-phase than males in the foot/shank segment in the sagittal plane. There were no differences in intersegment coordination variability between groups. Differences in joint motion during an unanticipated cutting task were present between age groups and sexes. Injury prevention programs or training programs may be able target specific deficits to lower injury risk and improve performance.

The cause of downbeat nystagmus (DBN) remains unknown in approximately 30% of patients (idiopathic DBN). Here, we hypothesized that: (i) FGF14 (GAA) ≥250 repeat expansions represent a frequent genetic cause of idiopathic DBN syndromes, (ii) are treatable with 4-aminopyridine (4-AP), and (iii) FGF14 (GAA) 200-249 alleles are potentially pathogenic. We conducted a multi-modal cohort study of 170 patients with idiopathic DBN that comprised: in-depth ocular motor, neurological, and disease evolution phenotyping; assessment of 4-AP treatment response, including re-analysis of placebo-controlled video-oculography treatment response data from a previous randomized double-blind 4-AP trial; and genotyping of the FGF14 repeat. Frequency of FGF14 (GAA) ≥250 expansions was 48% (82/170) in the entire idiopathic DBN cohort. Additional cerebellar ocular motor signs were observed in 100% (82/82), cerebellar ataxia in 43% (35/82), and extracerebellar features in 21% (17/82) of (GAA) ≥250 - FGF14 patients. Alleles of 200 to 249 GAA repeats were enriched in patients with DBN (12%; 20/170) compared to controls (0.87%; 19/2,191; OR, 15.20; 95% CI, 7.52-30.80; p =9.876e-14). The phenotype of (GAA) 200-249 - FGF14 patients closely mirrored that of (GAA) ≥250 - FGF14 patients. (GAA) ≥250 - FGF14 and (GAA) 200-249 - FGF14 patients had a significantly greater clinician-reported (80% vs 31%; p =0.0011) and self-reported (59% vs 11%; p =0.0003) response rate to 4-AP treatment compared to (GAA) <200 - FGF14 patients. This included a treatment response with high relevance to everyday living, as exemplified by an improvement of 2 FARS stages in some cases. Placebo-controlled video-oculography data of four (GAA) ≥250 - FGF14 patients previously enrolled in a 4-AP randomized double-blind trial showed a significant decrease in slow phase velocity of DBN with 4-AP, but not placebo. This study shows that FGF14 GAA repeat expansions are a highly frequent genetic cause of DBN syndromes, especially when associated with additional cerebellar features. Moreover, they genetically stratify a subgroup of patients with DBN that appear to be highly responsive to 4-AP, thus paving the way for a "theranostics" approach in DBN syndromes.

BackgroundIdentifying the most relevant HRQOL domains for LBP from the perspective of individuals with lived experience with LBP is necessary to prioritize domains that will be most informative for evaluating the impact of pain and interventions while overcoming the burden of using long-form assessment tools. This study aimed to identify which domains of HRQOL are most important from the perspective of individuals with chronic LBP.MethodsSemi-structured interviews were conducted with 26 individuals with LBP. Participants first responded to questions related to the impact of their LBP on their HRQOL. Then, using a card sorting method, they were asked to select and indicate HRQOL domains that were most relevant to them from a list of 18 cards that represented different HRQOL domains. Participants were asked to explain the reasoning for their selection.ResultsParticipants identified physical activity restriction (50%), severity of pain (31%), social activity restriction (23%), and work performance restriction (23%) as the most important domains. The most frequently selected HRQOL domains during card sorting were social function (69%), pain intensity (62%), physical function (58%), fatigue (58%), and pain interference (42%).ConclusionThe most important domains of HRQOL perceived by participants were pain intensity, social function, physical function, fatigue, and pain interference. Identifying these domains will inform clinical decision-making and guide treatment choices for health care providers.

BackgroundIntronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14) have recently been identified as a common cause of ataxia with potential phenotypic overlap with RFC1-related cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Our objective was to report on the frequency of intronic FGF14 GAA repeat expansions in patients with an unexplained CANVAS-like phenotype.MethodsWe recruited 45 patients negative for biallelic RFC1 repeat expansions with a combination of cerebellar ataxia plus peripheral neuropathy and/or bilateral vestibulopathy (BVP), and genotyped the FGF14 repeat locus. Phenotypic features of GAA-FGF14-positive versus GAA-FGF14-negative patients were compared.ResultsFrequency of FGF14 GAA repeat expansions was 38% (17/45) in the entire cohort, 38% (5/13) in the subgroup with cerebellar ataxia plus polyneuropathy, 43% (9/21) in the subgroup with cerebellar ataxia plus BVP and 27% (3/11) in patients with all three features. BVP was observed in 75% (12/16) of GAA-FGF14-positive patients. Polyneuropathy was at most mild and of mixed sensorimotor type in six of eight GAA-FGF14-positive patients. Family history of ataxia (59% vs 15%; p=0.007) was significantly more frequent and permanent cerebellar dysarthria (12% vs 54%; p=0.009) significantly less frequent in GAA-FGF14-positive than in GAA-FGF14-negative patients. Age at onset was inversely correlated to the size of the repeat expansion (Pearson’s r, −0.67; R2=0.45; p=0.0031).ConclusionsGAA-FGF14-related disease is a common cause of cerebellar ataxia with polyneuropathy and/or BVP, and should be included in the differential diagnosis of RFC1 CANVAS and disease spectrum.

Background Acquired brain injury (ABI) often leads to deficits in executive functioning (EF) which is responsible for severe and longstanding disabilities in activities of daily living. The “Cooking Task” (CT), an ecological test of EF involving multi-tasking, was developed in France and exhibits excellent psychometric properties but has not yet been adapted and validated for the French-Canadian context. Objectives Conduct a cross-cultural adaptation and validation of the CT for the French-Canadian context. Methods The CT was translated and adapted by a committee of experts and was validated. Results Adaptation-changes were made to the language (e.g., cartable vs classeur), the materials (e.g., measuring cup vs scale), and the measuring units (e.g., ml/cups vs grams). Validation-Preliminary analyses were conducted on 24 participants with an ABI and 17 controls. Construct convergent validity: The French-Canadian-CT discriminates between ABI and control total score on the CT and on most error type categories. Construct known-group validity: French-Canadian-CT scores correlated with another measure of EF deficits (Dysexecutive Questionnaire and Six Elements Task). Inter-rater reliability score for the total error was high (ICC= .84) and results were similar to those obtained for the France-CT. Contributions This study will provide a new ecologically valid tool for clinicians in Canada.

IntroductionStroke is a leading cause of morbidity and mortality worldwide, placing an immense burden on patients and the health system. Timely access to rehabilitation services can improve stroke survivors’ quality of life. The use of standardised outcome measures is endorsed for optimising patient rehabilitation outcomes and improving clinical decision-making. This project results from a provincially mandated recommendation to use the fourth version of the Mayo-Portland Adaptability Inventory (MPAI-4) to measure changes in social participation of stroke survivors and to maintain commitment to evidence-informed practices in stroke care. This protocol outlines the implementation process of the MPAI-4 for three rehabilitation centres. The objectives are to: (a) describe the context of MPAI-4 implementation; (b) determine clinical teams’ readiness for change; (c) identify barriers and enablers to implementing the MPAI-4 and match the implementation strategies; (d) evaluate the MPAI-4 implementation outcomes including the degree of integration of the MPAI-4 into clinical practice and (e) explore participants’ experiences using the MPAI-4.Methods and analysisWe will use a multiple case study design within an integrated knowledge translation (iKT) approach with active engagement from key informants. Each case is a rehabilitation centre implementing MPAI-4. We will collect data from clinicians and programme managers using mixed methods guided by several theoretical frameworks. Data sources include surveys, focus groups and patient charts. We will conduct descriptive, correlational and content analyses. Ultimately, we will analyse, integrate data from qualitative and quantitative components and report them within and across participating sites. Results will provide insights about iKT within stroke rehabilitation settings that could be applied to future research projects.Ethics and disseminationThe project received Institutional Review Board approval from the Centre for Interdisciplinary Research in Rehabilitation of Greater Montreal. We will disseminate results in peer-reviewed publications and at local, national and international scientific conferences.

The objective was to explore the care experiences and service design related to rehabilitation for mobility and participation in the community among individuals with acquired brain injury (ABI), as perceived by clinicians and patients. Five focus groups were held: three with clinicians and two with individuals with ABI. Focus group discussions were transcribed and analyzed using an inductive and deductive thematic content approach. Five themes were identified: Enabling continuity of care; System design; Accessibility and services in the community; Transportation services; and Uncertainty about the provided services. The results of participants' experiences contributed to developing recommendations of service provision for mobility, leading to a patient-centered continuum of rehabilitation services. Accessibility to rehabilitation to improve the quality of care by addressing needs during transitions and mobility-related deficits, providing needed information, coordinated care, and self-management support in the community.

Older adults are at a higher risk of loneliness, compared to other demographics. The use of Internet Communication and Technologies (ICTs) among older adults is steadily increasing and given ICTs provide a means of enhancing social connectedness suggests they may have positive effects on reducing loneliness. Therefore, the aim of this scoping review was to examine the research that explores how ICTs may be implicated in mitigating loneliness and increasing social connectedness among older adults. After the examination of 54 articles, we identified three major themes within the literature: (1) ICTs were associated with a reduction in loneliness and increase in wellbeing. (2) ICTs promoted social connectedness by facilitating conversations. (3) Factors such as training, self-efficacy, self-esteem, autonomy, and the design/features, or affordances, of ICTs contribute toward the associations between ICT use and wellbeing. The heterogeneity of methodologies, statistical reporting, the small sample sizes of interventional and observational studies, and the diversity of the experimental contexts underline the challenges of quantitative research in this field and highlights the necessity of tailoring ICT interventions to the needs and contexts of the older users.

Informed consent is essential in research involving people with disabilities to protect their rights and ensure ethical conduct. Individuals with communicative vulnerability, such as those living with deafblindness, face difficulties when the research process is not accessible. Our team has developed methodological expertise where this vulnerable population is concerned. To formalize recommendations that can improve their inclusion, we utilized an observational, retrospective design to address three questions: What are procedures that facilitate recruitment in a lab specializing on working with individuals living with deafblindness? What are optimal procedural adaptations to obtaining informed consent? and What training can best prepare researchers working with individuals living with deafblindness? First, we conducted a textual narrative synthesis of our eight most recent protocols and procedures that required in-person interaction with adults living with deafblindness. Second, we conducted semi-structured discussions among our team members, and third, we engaged in a validation procedure of the synthesized recommendations with our external partners. Procedural adaptations require flexibility in all aspects of recruitment and consent to accommodate communication needs. These include additional time, and accessible formats. Adaptations should consider vision (e.g., large-print, braille) and hearing (e.g., sign language, communication strategies) as well as aspects unique to deafblindness (e.g., intervener support, tactile communication). Consent can be documented in hand-written, electronic, audio or video-recorded format, and may be facilitated by third parties. Team training should include proficiency in plain language, basic knowledge about deafblindness, and awareness of accessibility features for mainstream devices. We present simple steps that can improve inclusion and increase accessibility for participants living with deafblindness, and that can improve the capacity of the research team by developing flexibility, patience, respect, and trust. This information can further inform institutional ethics review boards that are unfamiliar with the logistics of obtaining informed consent when working with participants living with deafblindness.

Purpose To describe the current practices in rehabilitation for the evaluation and treatment of children with arthrogryposis multiplex congenita (AMC). Materials and methods Rehabilitation practitioners worldwide with at least 2 years of experience with AMC were invited to complete an electronic survey on the evaluations and treatments used with children with AMC within five areas: muscle and joint function, self-care, mobility, pain, participation and psychosocial wellbeing. Results Sixty five participants from nine countries completed the survey. Participants completed the sections applicable to their practice. Number of participants within each area varied between 24 and 53. Over 80% of participants used non-standardized evaluations across areas while <50% used patient-reported or standardized measures. Stretching of upper and lower limbs was reported by >80% across ages and clinical presentation severity. Strengthening reported by >70% was mainly used among children >3 years old with less severe contractures. Other interventions used across areas included orthotics (>70%), positioning (>80%), activity-based training (>80%), assistive devices for self-care (>50%) and mobility (>80%), and energy conservation (>70%). Over 70% of participants were involved in perioperative rehabilitation. Conclusion Knowledge of current pediatric rehabilitation practice in AMC, together with empirical evidence, may guide clinical decision-making and identify avenues for future research.