Walking Ability Research Articles

Should you hold onto the treadmill handrails or not? Cortical evidence at different walking speeds

BackgroundTreadmill-based gait training is part of rehabilitation programs focused on walking abilities. The use of handrails embedded in treadmill systems is debated, and current literature only explores the issue from a behavioral perspective.MethodsWe examined the cortical correlates of treadmill walking in healthy participants using functional near-infrared spectroscopy. We investigated whether the utilization of treadmill handrails at varying walking speeds could affect cortical activation associated with the task, and we evaluated potential differences in task-based functional connectivity across the various walking conditions.ResultsSignificant differences in cortical activation were found between the two walking speeds (3 and 5 km/h) in the unsupported condition; these differences were reduced when using the handrails. Specifically, cortical activation was significantly higher when the participants swung their arms freely while walking at a speed of 5 compared to 3 km/h in several Brodmann’s Areas (BA): left BA10, BA3 and BA39, and right BA10, BA9, BA8, BA3, and BA40. No significant differences were found when participants were holding onto the handrails. A significant difference was found in the left BA40 between the two speeds, regardless of whether the participants were holding onto the handrails. Furthermore, at the higher speed and without the use of handrails, a wider pattern of task-based functional connectivity was observed, with significantly stronger connectivity between the left BA10 and BA40.ConclusionsWe suggest that speed and handrails use play a role in walking cortical activity patterns, therefore they are key ingredients to take into account when planning a rehabilitation program.

Assessing walking speed in persons with a lower-limb amputation: Test-retest reliability of the 10-m walk test.

Preferred walking speed (PWS), maximal walking speed (MWS), and walking speed reserve (WSR)-the difference between MWS and PWS-can be easily obtained from the 10-m walk test (10MWT) to assess walking ability and function. However, their test-retest reliability has not been determined in persons with unilateral lower-limb amputation (LLA). To determine the reliability of the PWS, MWS, and WSR obtained from the 10MWT in persons with LLA. Test-retest with a 48- to 120-h interval between test days. Test-retest relative and absolute reliability was assessed by the intraclass correlation coefficient (ICC) and the %change in mean (%CM) and coefficient of variation (CV), respectively. Preferred walking speed showed excellent reliability between day 1 (familiarization day) and day 2 (ICC = 0.97; %CM = -1.8; CV = 7.7) and a significant speed increase from day 2 to day 3 (ICC = 0.96; %CM = 8.5, p < 0.003; CV = 7.4). Maximal walking speed showed excellent reliability between day 1 and day 2 (ICC = 0.94; %CM = 2.9; CV = 8.3) and between day 2 and day 3 (ICC = 0.94; %CM = 1.8; CV = 8.6). Overall, WSR was poorly reliable between day 1 and day 2 (ICC = 0.65; %CM = 39.2; CV = 39.2) and between day 2 and day 3 (ICC = 0.74; %CM = 30.0; CV = 30.0). Preferred walking speed obtained from a single 10MWT and MWS obtained after a 10MWT familiarization day are reliable walking speed measures for persons with LLA with similar characteristics to those of our sample. Nonetheless, it is critical that both PWS and MWS are obtained after a 10MWT familiarization to obtain a reliable WSR.

Effects of Aquatic Exercise in Older People with Osteoarthritis: Systematic Review of Randomized Controlled Trials

Objective: In this study, the objective is to analyze the efficacy of different aquatic physical exercise programs in the treatment of osteoarthritis in older people. Material and Methods: The systematic review was conducted until April 2024 and updated in November 2024 in five electronic databases. Randomized controlled studies in people over 60 years of age with a diagnosis of osteoarthritis were included. Water-based exercise interventions were assessed for their impact on osteoarthritis symptoms, walking ability, muscle strength, depressive symptoms, range of motion, body composition, fear of falling, fall risk, quality of life, range of motion, and dual task function. The methodological quality of included studies was assessed using the Physiotherapy Evidence Database. Results: A total of 12 studies were included, with sample sizes ranging from 35 to 312 participants. The presence of osteoarthritis in the sample was manifested in different joints. The methodological quality of the included studies varied from fair to good. Based on the results of this review, aquatic exercise significantly improved balance, stiffness, pain, and walking ability compared to non-exercise controls (p &lt; 0.05). Compared with land-based exercise groups, only one study found significant differences between the two groups. Conclusions: Water-based exercise programs do not provide significantly superior benefits compared to other exercise modalities and appear to have limited effectiveness in the management of OA. However, the feasibility and high adherence make these programs a recommendable option for older people with OA. Future studies should investigate the impact of exercise intensity on the short- and long-term efficacy of aquatic therapy.

Annotations on Lower-Limb Exoskeleton in Different Parts and Successful Commercial Rehabilitation Robots

The exoskeleton is always a famous topic for robot-human relations. In the novel and movie, exoskeleton robots function as additional bodies or arms for human users. However, because of the restrictions of materials and some detection skills, people cannot achieve such a goal. The research on exoskeletons nowadays mainly focuses on rehabilitation and military use. Because of the low cost of exoskeletons in rehabilitation and their safety, exoskeletons become a common and good choice for hospitals and nursing homes, especially lower-limb exoskeletons for paralysis or spinal cord injury patients who need to do rehabilitation for walking ability. This overview will first examine the algorithms for hip exoskeletons, followed by an analysis of using the new type of component in knee exoskeleton and then the annotation system of ankle exoskeletons, and last, talk about the algorithm for one successfully commercialized lower-limb exoskeleton. This comprehensive review aims to contribute to the field by providing valuable insights for researchers and practitioners in lower-limb exoskeleton development.

Altered cortical activation patterns in post-stroke patients during walking with two-channel functional electrical stimulation: a functional near-infrared spectroscopy observational study

Restoration of independent walking ability is the primary objective of stroke rehabilitation; however, not all patients achieve this goal due to diverse impairments in the paretic lower limb and compensatory mechanisms that lead to an asymmetrical and mechanically inefficient gait. This investigation aimed to examine alterations in cortical activation in post-stroke patients while walking with a wearable two-channel functional electrical stimulation (FES) in comparison to walking without FES. This observational study was conducted to discern distinct activation patterns in 19 stroke patients during sessions with and without FES, while using functional near-infrared spectroscopy (fNIRS) to monitor changes in blood oxygen levels. Our findings revealed only a significant reduction in ΔOxy-Hb in the contralesional pre-motor cortex (z = −2.803, p = 0.005) during the FES-on walking sessions compared to the FES-off sessions. Furthermore, all regions in the FES-on session exhibited lower ΔOxy-Hb. Conversely, no significant differences were observed in ΔDeoxy-Hb. Moreover, a significant correlation was found between decrease in cPMC and the reduced cost time of walking under FES-on condition. The fNIRS analysis revealed diminished activation in the contralesional pre-motor cortex when walking with FES, implying that FES may facilitate a more automatic gait pattern while reducing a patient’s reliance on contralesional cortical resources. The findings of this study lay the groundwork for long-term neural rehabilitation.

The Feasibility of non-motorized Treadmill Training on Lower Extremity Muscle Strength, Balance, and Gait in Patients with Stroke: A Pilot Study

Background Non-motorized treadmills have been used for health improvement in healthy individuals and for enhancing physical fitness in athletes. However, there is a lack of research focusing on their use with patients with stroke. Objective This study aims to assess the impact of non-motorized treadmill training on lower limb strength, balance, and gait in patients with stroke, and compare it with flat ground walking training. Methods The participants included 22 patients with stroke, divided into two groups: non-motorized treadmill training group ( n = 11) and flat ground walking training group ( n = 11). All participants underwent 20 training sessions, 30 min each, five times a week for four weeks. Outcome measures included the digital dynamometer, Medical Research Council scale (MRC), Berg Balance Scale (BBS), Four Square Step Test (FSST), 6-Minute Walk Test (6MWT), and GAITRite. Results The non-motorized treadmill training group showed significant improvements compared to the flat ground walking group in hip abductor and extensor muscle strength, knee flexor and extensor muscle strength, MRC, BBS, FSST, 6MW and gait parameters ( p &lt; 0.05). Conclusions Non-motorized treadmill training may be considered an effective gait rehabilitation method in clinical settings for patients experiencing stroke with reduced lower limb strength, balance, and walking ability.

Effects of high-intensity interval walking training on muscle strength, walking ability, and health-related quality of life in people with diabetes accompanied by lower extremity weakness: A randomized controlled trial.

This study examined the effects of high-intensity interval walking training (IWT) compared to moderate-intensity continuous walking training (CWT) on muscle strength, walking ability, and health-related quality of life (QOL) in people with diabetes accompanied by lower extremity weakness. People with diabetes accompanied by low isometric knee extensor strength using a simple manual dynamometer (n = 50) were screened and randomly divided into 2 groups: CWT (n = 25) and IWT (n = 25). Both groups were instructed by a physical therapist to perform walking training with the goal of 120 min/week over a 5-month period. The primary outcome, mean change of isometric knee extensor strength, and secondary outcomes, such as gait speed and health-related QOL, were measured at baseline and the end of the intervention. At the end of the intervention, there was no significant difference in the degree of change in isometric knee extension strength between the two groups. However, there was a significant increase in changes in gait speed and physical QOL in the IWT group (gait speed, P < 0.01; physical QOL, P < 0.05). The present study showed that IWT for people with diabetes accompanied by lower extremity weakness did not improve knee extension muscle strength compared to CWT but did improve walking ability and physical QOL.

Effects of aerobic and resistance training on walking and balance abilities in older adults with Parkinson's disease: A systematic review and meta-analysis.

To explore the impact of aerobic and resistance training on walking and balance abilities (UPDRS-III, Gait Velocity, Mini-BESTest, and TUG) in individuals with Parkinson's disease (PD). All articles published between the year of inception and July 2024 were obtained from PubMed, Embase, and Web of Science. Meta-analysis was conducted with RevMan 5.4. Research from 15 randomized controlled trials, comprising 792 older patients with a diagnosis of PD, was included in the analysis. Aerobic training (AT) and Resistance training (RT) significantly improved UPDRS-III (AT, SMD = -5.69, 95% CI: -8.67 to -2.71, p = 0.0002, I2 = 82%; RT, SMD = -3.01, 95% CI: -4.89 to -1.12, p = 0.002, I2 = 0%) and Gait Velocity(AT, SMD = 0.88, 95% CI: 0.58 to 1.18, p < 0.00001, I2 = 42%; RT, SMD = 0.52, 95% CI: 0.10 to 0.94, p = 0.01, I2 = 55%). AT showed no difference in Mini-BESTest (AT, SMD = 2.12, 95% CI: -0.70 to 4.94, p = 0.14, I2 = 90%). RT showed no change in TUG (RT, SMD = -0.03, 95% CI: -1.60 to 1.54, p = 0.97, I2 = 63%). Resistance training stood out as the most effective approach to boost performance on the mini-BESTest. Conversely, aerobic exercise proved to be superior for improving the UPDRS-III, gait velocity and TUG scores.

Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy.

Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear. This study aimed to investigate the relationship between urinary titin levels and the clinical data in patients with BMD. Urine samples were collected from 123 patients with BMD, and urinary titin levels were measured. The association of urinary titin with clinical data, including age, physical measurements, physical activity, blood tests, and cardiopulmonary test results, was examined. A total of 257 urine samples were obtained from patients of 5-79years of age. The median urinary titin level was 72.6pmol/mg Cr (range 0.2-4325.0pmol/mg Cr). No strong correlation was found between urinary titin levels and age, physical measurements, physical function, blood test results, or cardiopulmonary function. However, on comparing clinical data between the age-matched high urinary titin (N=94) and normal (N=29) groups, the high urinary titin group had a significantly greater number of non-ambulatory cases (23.9% vs. 3.6%), weaker grip strength (16.3 vs. 32.0kg), and higher serum creatine kinase (1072 vs. 398 U/L) and cardiac troponin I (10.6 vs. 2.5pg/mL) levels. Urinary titin was identified as a biomarker reflecting walking ability, muscle strength, and skeletal and cardiac damage in patients with BMD.

Residual Effects of Physical Exercise After Periods of Training Cessation in Older Adults: A Systematic Review With Meta-Analysis and Meta-Regression.

We aimed to determine the persisting effects of various exercise modalities and intensities on functional capacity after periods of training cessation in older adults. A comprehensive search was conducted across the Cochrane Library, PubMed/MEDLINE, Scopus, and Web of Science Core Collection up to March 2024 for randomized controlled trials examining residual effects of physical exercise on functional capacity in older adults ≥ 60 years. The analysis encompassed 15 studies and 21 intervention arms, involving 787 participants. The exercise and training cessation periods ranged from 8 to 43 weeks and 4 to 36 weeks, respectively. Meta-analyses were performed using change scores from before the physical exercise to after the training cessation. The effect sizes (ES) were calculated as the standardized mean differences between the intervention and control groups' change scores. Subgroup analyses and meta-regressions explored the influence of participant characteristics, the magnitude of the effect produced by the initial training program, various exercise modalities (resistance and multicomponent training) and intensities (high and low), and subdomains of functional capacity (agility, balance, standing ability, walking ability, and stair walking). The findings revealed that exercise interventions had a significant effect on preserving functional capacity after training cessation (ES = 0.87; p < 0.01). This protective effect was consistent across various exercise modalities and intensities (ES ≥ 0.67; p ≤ 0.04). The benefits obtained during the training program were positively associated with the residual effects observed after training cessation (β = 0.73; p < 0.01), while age negatively influenced the persisting adaptations (β = -0.07; p < 0.01). Current evidence suggests that exercise-based interventions, irrespective of modality and intensity, are highly effective in preventing functional declines after training cessation among older adults.

Effects of stretching exercise on walking performance and balance in older adults: A systematic review and meta-analysis.

This systematic review aimed to analyse the literature on the effects of stretching exercise as a strategy to improve walking performance and balance in older adults. A literature search was performed in five databases up to October 2023 for randomized clinical trials addressing the effects of stretching exercise programs in older adults. The methodological quality was evaluated through the PEDro scale. A total of 29 studies were included. Methodological quality was good in 16 publications and fair in 13 investigations. Improvements on balance and walking ability following stretching programs were reported in different studies. The meta-analysis pooling 139 participants from 6 studies showed that stretching interventions increased gait speed in comparison with control groups that were not assigned to any exercise programs (standardized mean difference=0.56; 95 % confidence interval: 0.21, 0.90; I-squared = 0 %, p=0.520). These findings indicate potential benefits of stretching exercises to enhance walking ability in older adult population.

Relationship between postoperative dietary intake and walking ability among older adults with hip fractures: A retrospective study

Objective This study aimed to determine whether total dietary intake assessed in the acute phase after hip fracture surgery is associated with walking ability. Design The retrospective observational study. Setting A single institution. Participants Patients with hip fractures aged ≥65 years. Main measures Dietary intake was recorded daily on an 11-point scale using visual plate waste. The primary outcome was walking ability, which was assessed using functional ambulation categories at discharge. We categorised the patients into those with improved walking ability (functional ambulation categories score ≥3) and those without (&lt;3). Cox proportional hazard models were used to estimate hazard ratios and 95% confidence intervals for functional ambulation categories according to total dietary intake during acute hospitalisation. Results In total, 182 patients were included with a median age of 85 years; 73.6% were women. The median dietary intake during the first week after surgery, the second postoperative week, and throughout the postoperative period were 24.5, 28.4, and 27.1 kcal, respectively. After adjusting for potential confounders, high total dietary intake (hazard ratio, 1.05; 95% confidence intervals, 1.02–1.09; P = .006) and high dietary intake after the second week (hazard ratio, 1.04; 95% confidence intervals, 1.01–1.08; P = .017) were associated with walking ability. Conclusions Total dietary intake was associated with walking ability at discharge during the acute postoperative period after hip fracture. Dietary intake following the second postoperative week may play a significant role in the recovery of walking ability.

Repetitive transcranial magnetic stimulation improves cognition, depression, and walking ability in patients with Parkinson's disease: a meta-analysis.

To evaluate the efficacy of repetitive transcranial magnetic stimulation (rTMS) on cognitive function, depression, and walking ability in patients with Parkinson's disease. A comprehensive search was conducted in PubMed, Web of Science, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), Chinese Biomedical Literature Database (CBM), VIP Database, and Wanfang Database. Randomized controlled trials (RCTs) on rTMS treatment in Parkinson's disease patients were retrieved, covering the period from the inception of each database to July 2024. The quality of the included studies was assessed using the Cochrane risk of bias tool. Two researchers independently screened the literature, extracted data, and assessed the risk of bias in the studies. Data synthesis and analysis were performed using RevMan 5.4 and Stata 17.0 software. A total of 15 studies were included. The meta-analysis revealed that rTMS significantly improved the MOCA score (MD = 2.98, 95% CI 2.08, 3.88, P = 0.000), TUGT score (SMD=-0.72, 95% CI -1.43, 0.00, P = 0.048), FOG-Q score (SMD=-0.54, 95% CI -0.97, -0.11, P = 0.01), and UPDRS-III score (SMD=-0.66, 95% CI -0.84, -0.47, P = 0.000) in Parkinson's disease patients, and also alleviated depressive symptoms as measured by the HAMD (SMD=-0.43, 95% CI -0.72, -0.13, P = 0.004). rTMS can improve cognitive function, depressive symptoms, and walking ability in patients with Parkinson's disease.

Does sex influence the impact of dietary vitD3 and UVB light on performance parameters and welfare indicators of broilers?

Abstract Investigations were carried out to determine whether sex could influence the impacts of dietary vitamin D3 in IU/kg at either 4,000 alone (HD) or at 1,000 combined with ultraviolet B (UVB) light (LDU) and UVB light only on broiler performance and welfare. Three-hundred 1-day (d)-old Ross 308 broiler chicks were wing-tagged and allocated to 6 treatment groups, each with 5 replicated pens containing 10 broilers per pen in a 3 (HD, LDU, UVB) × 2 (males and females) factorial design. Output lamps (24 W 12% UVB D3, 55 cm) were installed in the centre of the pen 50 cm above the centre of the pen to provide UVB light (intensity: 28.12 µW/cm2; wavelength: 280–315 nm) for the broilers in all the treatment groups but the lamps were filtered in the HD and LDU groups. The birds were monitored for growth performance and welfare, as indicated by their feather and gait scores. At 42 days of age, selected birds were individually weighed and dissected for determining meat yield, GIT and bone morphometrics and vitamin D status. The dietary vitD3 and sex interacted (P &lt; 0.05) for carcass yield, whereas sex influenced all the parameters measured. The UVB and female birds had lower BW (P &lt; 0.05), lighter meat yields (P &lt; 0.05), better feathering and walking ability (P &lt; 0.05) and inferior bone traits (P &lt; 0.05) compared to their counterparts. Although none of the treatments improved growth alongside welfare indicators of broilers, the results suggest some beneficial effects of UVB light on welfare and the potential to support early life feeding and grow-out periods of commercial broilers when housed indoors.

Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture

BackgroundAutism Spectrum Disorder (ASD) is a neurodevelopmental disorder, characterized by impairments in social interaction and communication with restricted and repetitive behavior. Postural and motor disturbances occur more often in ASD, in comparison to typically developing subjects, affecting the quality of life. Linear and non-linear indexes derived from the trajectory of the center of pressure (COP) while subjects stand on force platforms are commonly used to assess postural stability. The aim of the present feasibility study was to investigate whether combining linear and non-linear parameters of the COP during stance in subjects with ASD, could provide insight on specific features of motor dysfunction possibly linked to ASD cognition and clinical characteristics.MethodsTwenty-two males, aged 10–15 years, including subjects with ASD and healthy controls (N = 11, respectively), were studied. They all had normal cognitive level and independent walking ability. A piezoelectric force platform was used to evaluate posture over three feet positions, with eyes open, closed and during visually-guided saccades. Linear (sway path, total area and root mean square) and non-linear parameters (fractal dimension and sample entropy) of the COP were measured to determine postural stability and the complexity and regularity of the COP signals. GLMM analyses were performed to assess COP parameter changes across experimental conditions and subject groups. Finally, Spearman correlations evaluated the significance of potential relationships between linear and non-linear measures as well as between non-linear parameters and clinical data in patients with ASD.ResultsCompared to controls, subjects with ASD showed reduced postural stability and complexity, with higher regularity of COP trajectories, particularly in the most unstable feet positions, during visually-guided saccades and in the medial-lateral direction. Spearman correlations indicated that, in the patients’ group, postural instability was associated with a decrease in the geometric complexity and an increase in the regularity of the COP trajectory. Moreover, the increase in regularity of the COP trajectory was associated to the severity of restricted and repetitive behavior.ConclusionsThe results of this study highlight the importance of combining linear and non-linear measures in evaluating postural control in patients with ASD, also with respect to the outcome of interventions on these patients targeting postural balance.

Relationships between trunk tissue distribution, metabolic risk factors and physical performance in young people-A pilot study.

The present study examined the relationships between trunk tissue distribution, metabolic risk factors, and physical performance in young Japanese individuals using cross-sectional and longitudinal analyses. Thirty-six healthy Japanese men (n = 20, body mass index [BMI]: 20.8 ± 2.0 kg/m2) and women (n = 16, BMI: 19.6 ± 2.0 kg/m2) aged 20-26 years old visited our laboratory twice with an interval of 1 year. The thicknesses of skeletal muscle (MT), subcutaneous adipose tissue (SCAT), and the intra-abdominal cavity (IAT) were assessed by ultrasound imaging and adjusted by body mass1/3 (BM1/3). Blood properties related to hepatic function or metabolic syndrome, brachial-ankle pulse wave velocity, hand grip strength, two-step-length/height scores, and sit-and-reach test scores were also measured. As a result of the cross-sectional analysis, significant relationships were observed between SCAT/BM1/3 and indices of glucose metabolism (HOMA-IR and QUICKI) in men (r = 0.513 and -0.583), and between IAT/BM1/3 and fasting blood glucose in women (r = 0.524). Longitudinal analyses of women showed that changes (%) in IAT and MT/IAT correlated with % changes in the indices of hepatic function (AST) and glucose metabolism (HOMA-IR and HOMA-β) (r = -0.673 to 0.686). Significant correlations were also observed between MT/IAT and walking ability (two-step-length/height) in cross-sectional and longitudinal analyses of men (r = 0.463 and 0.525). In conclusion, the trunk tissue distribution could be used to detect the early symptoms of metabolic risks and declines in physical performance in young men and women.

Multi-Modal Compliant Quadruped Robot Based on CPG Control Network

Quadruped robots, with their biomimetic structure, are capable of stable locomotion in complex terrains and are vital in rescue, exploration, and military applications. However, developing multi-modal robots that feature simple motion control while adapting to diverse amphibious environments remains a significant challenge. These robots need to excel at obstacle-crossing, waterproofing, and maintaining stability across various locomotion modes. To address these challenges, this paper introduces a novel leg–fin integrated propulsion mechanism for a bionic quadruped robot, utilizing rapidly advancing soft materials and integrated molding technologies. The robot’s motion is modeled and decomposed using an improved central pattern generator (CPG) control network. By leveraging the control characteristics of the CPG model, global control of the single-degree-of-freedom drive mechanism is achieved, allowing smooth transitions between different motion modes. The design is verified through simulations conducted in the Webots environment. Finally, a physical prototype of the quadruped compliant robot is constructed, and experiments are carried out to test its walking, turning, and obstacle-crossing abilities in various environments. The experimental results demonstrate that the robot shows a significant speed advantage in regions where land and water meet, reaching a maximum speed of 1.03 body lengths per second (bl/s).

Spinal muscular atrophy is also a disorder of spermatogenesis

BackgroundSpinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients’ spermatogenesis.MethodsThis descriptive, cross-sectional study was conducted from June 2022 to July 2023. The study involved adult male patients with genetically confirmed SMA type 2 (SMA2) or SMA3 from 13 French neuromuscular centers. The patients’ general data, motor severity, urological history, exposure to certain factors, parenthood, and spermogram results were obtained. All patients were enrolled prior to exposure to risdiplam.FindingsSixty-eight patients were enrolled ( 36 SMA2 and 32 SMA3 patients). Forty-one patients had fertility data (parenthood history and spermogram analyses) and underwent 33 spermograms. Fertility disorders were identified in 27 of the 41 patients (65·9%, 95%CI 51·3–80·4%) in particular SMA2 patients: 19 cases (90.5%, CI 77·9–100%) (SMA3: 8 cases (40%, CI 18·5–61·5%). Among the patients with available spermograms, 81% (27/33) had abnormal sperm concentration; 30% presented azoospermia. These abnormalities were significantly associated with SMA type (more prevalent in SMA2 patients, p < 0·001), disease motor severity, which included age at the loss of walking ability and wheelchair use duration (p < 0·001). The Motor Function Measure (MFM) determined that the sperm counts were also correlated with disease severity (p < 0·01).InterpretationThe fertility disorders were correlated with SMA severity and were particularly evident in SMA2 patients. In the latter, sperm concentration positively correlated with MFM. This study is the first one to link fertility disorders with spermogram abnormalities in SMA males. Understanding spermatogenesis in SMA is crucial, especially with new therapies such as risdiplam. Consequently, conducting systematic spermogram studies prior to SMA treatment is recommended.

A research protocol to study the critical time window for rehabilitation after incomplete spinal cord injury: early vs. late locomotor training

Spinal cord injury (SCI) often results in severe motor and sensory deficits, leading to significant disability. Preclinical studies and retrospective studies suggest that a critical window of enhanced neuroplasticity may exist immediately after SCI, during which therapeutic interventions could yield greater functional improvements. The impact of time interval since SCI on efficacy of rehabilitation has not been directly assessed and is the focus of this clinical trial. This study will compare the efficacy of high-intensity gait training, initiated at different time intervals post-injury, on walking performance in individuals with SCI. We hypothesize that early intervention will yield the greatest improvements in walking ability and community ambulation, compared to training initiated at 3 or 6 months after SCI, or standard of care. This randomized, multi-site clinical trial will enroll 108 participants with acute, traumatic SCI. Participants will be randomized to receive 20 h of high-intensity gait training that will be initiated either early (< 60 days post-SCI), sub-acute (3 months), chronic (6 months), or to a control group receiving standard of care. Primary outcomes include gait speed (10 m Walk Test) and walking endurance (6-Minute Walk Test). Secondary outcomes include daily step count via wearable sensors, lower extremity strength, and quality of life measures. Assessments will occur at baseline, pre/post-intervention, and at 3, 6, 9, and 12 months post-SCI. This study will provide insights into the optimal timing of rehabilitation post-SCI and could have profound effects on our approach to training individuals with SCI in the healthcare setting as well as long term recovery outcomes.Trial registration ClinicalTrials.gov NCT06176833 was completed on 12/11/2023.

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood. Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models. Psychiatric features were evaluated cross-sectionally in the Spanish cohort. Thirty-eight patients (21 males, 17 females) were evaluated at a mean age (SD) of 10 years (4 years 7 months; range 2-21 years) and 14 years 2 months (4 years 8 months; range 4-25 years). We observed a significant worsening of action myoclonus, global dystonia, and dystonia during writing (mean annual increases of 1.356, 0.226, and 0.518 in the Unified Myoclonus, Burke-Fahn-Marsden, and Writer's Cramp Rating Scales respectively). Accordingly, participants perceived a significant worsening in their speech, writing, and walking abilities. Twenty-six of 32 participants suffered from anxiety (n = 13), obsessive-compulsive disorder (n = 9), and attention-deficit/hyperactivity disorder (n = 8). This study demonstrates that, unlike in the adult population, myoclonus dystonia syndrome in childhood and adolescence follows a progressive course that can be debilitating in the early stages of life. These findings, along with a high prevalence of psychiatric symptoms, highlight the need for early therapeutic interventions to prevent long-term motor and psychological sequelae.