Search Results (282)

Background/Objectives: CLIFAHDD syndrome (OMIM # 616266) is a rare neurodevelopmental disorder caused by mutations in the NALCN gene. It is characterized by hypotonia, developmental delay, and congenital contractures of the limbs and face. We report a 33-year-old Italian woman with a mild form of CLIFAHDD who exhibited early-onset language difficulties and mild intellectual disability and later developed gait and balance impairments in adulthood. Methods and Results: Whole Exome Sequencing (WES) identified a novel missense variant c.1514A>T; p.(Lys505Met) in the NALCN gene. The allele frequency of this variant is not detected (MAF = 0.0), the variant is classified as likely pathogenic according to ACMG criteria, and predicted to be probably damaging by PolyPhen-2. It affects a critical residue within the second pore-forming domain of the NALCN channel, potentially altering lipid interactions and channel regulation. Sanger sequencing and segregation analysis confirmed the variant to be heterozygous and de novo. Conclusions: The patient’s milder symptoms and later onset, compared to severe pediatric cases, suggest that the clinical spectrum of CLIFAHDD syndrome may be broader than previously recognized. These findings underscore the potential influence of mutation location on disease presentation and severity. Full article

Background/Objectives: Children with myelomeningocele (MMC) often experience lower extremity muscular contractures, which can impact their functional mobility. While standing programs have demonstrated benefits for children with other neuromuscular conditions, there is limited evidence on their use in ambulatory children with MMC who have joint deformities. This single-subject design study examined the impact of a home-based standing program on two ambulatory children with MMC, focusing on lower extremity muscle flexibility, functional movement quality, gait velocity, and participation in daily activities. Methods: Two children participated in a multi-phase single-subject (ABABA) withdrawal design beginning with the baseline phase and then alternating between the intervention and withdrawal phases. The intervention consisted of 60-minute standing sessions, five days a week, using a sit-to-stand stander (STSS) with support and supervision from a physical therapist (PT) and the parent. Primary outcomes included goniometric passive range of motion (PROM) and 10-Meter Walk Test (10 MWT). Secondary outcomes included the Pediatric Neuromuscular Recovery Scale (Peds NRS) and the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). Results: Improvements in hip and knee muscle flexibility were observed during the intervention phases, with some loss during the withdrawal phase. Functional movement quality improved in both children. Gait velocity and participation in daily activity scores remained stable during intervention phases. Parental feedback reflected increased independence and high engagement with the home program. One child discontinued due to a heel injury, highlighting the need for individualized support. Conclusions: Personalized standing programs may improve muscle flexibility and functional movement quality in ambulatory children with MMC. Further research is warranted to determine the optimal dosing regimen, ensure safety, and assess long-term functional outcomes. Full article

Hemiparesis is a disabling consequence of stroke, causing abnormal gait patterns with biomechanical asymmetries. Gait mechanics for stroke survivors appear resistant to conventional rehabilitation. Auditory rhythmical cueing (ARC) represents an emerging intervention option. To determine effective gait interventions, objective measures of gait collected from real-world environments may be required in addition to standard clinical outcomes to aid understanding of gait mechanics. This study reports on the ability of wearable activity monitors to quantify an ARC intervention for fifty-nine stroke survivors randomised into an ARC gait and balance training programme or an equivalent training programme without ARC. Gait assessments were undertaken at baseline and at 6 weeks for 4-metre walks and continuously for 7 days following each home assessment using a wearable activity monitor. The success rates of data collection using the wearable activity monitors ranged from 64 to 95%. Forty-eight Digital Mobility Outcomes representing a broad range of gait mechanics were calculated. Visualisation of all DMOs using radar plots indicated changes from baseline in both groups, with individual data indicating large variability in response to the intervention and control programme. Including wearable activity monitors to evaluate gait interventions for stroke survivors provides additional value to traditional methods and aids understanding of individual responses; as such, they should be used for future intervention-based research. Full article

Background: Pain is a disabling issue in athletes, with significant impact on performance and career longevity. Many randomized clinical trials (RCTs) have explored interventions to reduce pain, leading to multiple systematic reviews with meta-analysis, but their methodological rigor and clinical applicability remain unclear. Objective: To provide an overview of systematic reviews with meta-analysis on interventions aimed at alleviating pain intensity in athletes, identifying knowledge gaps and appraising methodological quality. Methods: CINAHL, Embase, Epistemonikos, PubMed, Scopus, SPORTDiscus, and Cochrane Library were searched from inception to February 2025. Systematic reviews with meta-analysis of RCTs evaluating interventions to manage pain in athletes were considered. Athletes without restrictions in terms of sports, clinical, and sociodemographic characteristics were included. Overlap between reviews was calculated using the corrected covered area. Results: Twelve systematic reviews met inclusion criteria. Physical exercise modalities (e.g., gait retraining, hip strengthening), acupuncture, photo biomodulation, and topical medication showed potential benefits in reducing pain intensity. Other interventions, such as certain manual therapy techniques, platelet-rich plasma, or motor imagery, did not show consistent effects. All reviews focused solely on pain intensity, with minimal stratification by sport or clinical condition which may affect the extrapolation of meta-analyzed findings to the clinical practice. Methodological quality was often low, with flaws in reporting funding sources, lists of excluded studies, and certainty of evidence (was mostly rated as low/very low). Overlap was variable across the interventions. Conclusions: Given low/sparse certainty and minimal sport-specific analyses, no strong clinical recommendations can be made; preliminary signals favor proximal hip strengthening, gait retraining, photo biomodulation (acute soreness), and topical NSAIDs pending higher-quality syntheses. Future reviews should consider mandatory GRADE; pre-registered protocols; sport- and condition-specific analyses; and core outcome sets including multi-dimensional pain. Full article

Background: Muscle health is an emerging concept linked to physical performance and functional independence. However, the term lacks a standardized definition and is often used as a broad muscle-related outcome descriptor. Clinical communication and research would benefit from a conceptual model of muscle health grounded in an established framework. Methods: We conducted systematic search and narrative synthesis to identify multifactorial measurement approaches explicitly described under ‘muscle health’. PubMed and CINAHL were searched for clinical and randomized controlled trials published in the past 5 years (final search: March 2025) that used the term “muscle health.” Studies were reviewed for explicit definitions of “muscle health,” and all identified outcomes (e.g., strength, mass) and measurement tools (e.g., grip strength, ultrasound) were synthesized. This review was retrospectively registered (INPLASY202580069). Results: Of the 65 clinical or randomized controlled trials that met inclusion criteria, 29 provided an operational definition of ‘muscle health’, while 36 inferred measurements without a clear definition. The identified measurements spanned four primary categories, with body composition/muscle mass being the most common (92.3%), followed by muscle performance (78.5%), physical function (63.1%), and tissue composition (30.8%). Most studies included more than one muscle health metric (93.9%). Common assessment methods included DXA (44.6%), grip strength (64.6%), and gait speed (27.7%). Conclusions: While there are common measurement approaches, the definition of muscle health varies widely in the cited works. The framework of the International Classification of Functioning, Disability and Health, was used to identify domains aligned with muscle health components of muscle morphology/morphometry (e.g., mass and composition), functional status (performance-based tasks), and physical capacity (muscle performance). This framework provides a structured basis for evaluating muscle health in research and clinical practice. Consistent use of these domains could enhance assessment and support efforts to standardize testing and interpretation across settings. Full article

Background: Cerebral palsy (CP) is a static, non-progressive brain pathology that affects mobility and musculoskeletal health. Objective: This review aims to describe the pediatric orthopedic management strategy at one specialty center with focus on optimal lifelong mobility function for ambulatory CP. Methods: Beginning in the 1990s, a protocol was developed to proactively monitor children with surgical or conservative interventions. After three decades, we undertook a prospective institutional review, board-approved 25–45-year-old adults callback study. Inclusion criteria were all children treated through childhood who could be located and were willing to return for a full evaluation. Results: Pediatric orthopedic interventions focused on regular surveillance with proactive treatment of progressive deformities. When function was impacted, we utilized multi-level orthopedic surgery guided by instrumented gait analysis. Childhood outcomes of this approach were evaluated through retrospective studies. Results show high correction rates were achieved for planovalgus foot deformity, knee flexion contracture, torsional malalignments, and stiff-knee gait. Our prospective adult callback study evaluated 136 adults with CP, gross motor function classification system levels I (21%), II (51%), III (22%), and IV (7%), with average ages of 16 ± 3 years (adolescent visit) compared with 29 ± 3 years (adult visit). Adults in the study had an average of 2.5 multi-level orthopedic surgery events and 10.4 surgical procedures. Compared with adults without disability, daily walking ability was lower in adults with CP. Adults with CP had limitations in physical function but no increased depression. A higher frequency of chronic pain compared with normal adults was present, but pain interference in daily life was not different. Adults demonstrated similar levels of education but higher rates of unemployment, caregiver needs, and utilization of Social Security disability insurance. Conclusions: The experience from our center suggests that consistent, proactive musculoskeletal management at regular intervals during childhood and adolescence may help maintain in gait and mobility function from adolescence to young adulthood in individuals with CP. Full article

Background: Functional Neurological Disorders (FNDs) encompass a spectrum of disabling conditions, including functional limb weakness, tremor, gait disorders, seizures, and cognitive impairments. While previously diagnosed by exclusion, a growing consensus now supports the use of positive clinical signs as a basis for diagnosis. Despite this paradigm shift, frontline clinicians lack an integrated, accessible clinical tool for guiding diagnostic reasoning across FND subtypes. Objectives: This study aims to (1) synthesize the contemporary evidence on positive clinical signs across major FND subtypes and (2) develop a structured Clinical Decision Tool to support early and confident diagnosis in routine clinical settings. Methods: A focused narrative review was conducted using peer-reviewed publications and neurology reference texts, identifying reproducible positive clinical signs relevant to FND diagnosis. Signs were extracted, tabulated by subtype, and integrated into a modular decision-making framework designed for usability across outpatient, emergency, and specialist contexts. Results: The review identified 60+ positive signs across seven FND subtypes. These include Hoover’s sign for limb weakness, entrainment for tremor, variable responsiveness in NESs, and paradoxical memory performance in Functional Cognitive Disorder. A Clinical Decision Tool was developed, featuring subtype-specific checklists, diagnostic confidence indicators, and red flag alerts, and it is currently available in printable format. Conclusions: This study offers a novel, evidence-based decision tool to facilitate the positive diagnosis of FND. By consolidating observable signs into a practical format, it aims to reduce diagnostic delays, avoid unnecessary investigations, and enhance patient–clinician communication. Future efforts will focus on clinical validation and digital implementation. Full article

Background: Cerebral small vessel disease (cSVD) is a major contributor to intracerebral hemorrhage (ICH). Its presence carries significant implications for stroke prevention, acute management, post-stroke recovery, and socioeconomic burden. Despite its clinical significance, the impact of cSVD on functional outcomes after ICH, particularly concerning aging, remains uncertain. Objective: This study evaluated how cSVD influences post-ICH functional recovery, using age stratification (<65 and ≥65 years) and a multidomain functional assessment approach. Methods: We retrospectively analyzed data from 356 patients with primary spontaneous ICH. Functional status was evaluated at baseline and at three months post-ICH across multiple domains, including global disability, activities of daily living, gait, upper-extremity function, and swallowing ability, using validated assessment tools. Patients were categorized based on age and the presence or absence of cSVD. Results: Patients without cSVD consistently exhibited better functional status than those with cSVD at both baseline and three-month evaluations across age groups. Although all groups showed statistically significant functional improvement over time, the degree of improvement was significantly lower in patients with cSVD, particularly among those aged 65 years or older. Multivariable logistic regression analysis confirmed that cSVD was a strong and independent predictor of poor functional outcomes at three months after ICH. Conclusions: Our findings emphasize that cSVD is not merely a passive comorbidity but an active and independent determinant of poor prognosis and limited recovery following ICH. The clinical importance of early detection of cSVD supports the need for more intensive, individualized rehabilitation strategies in ICH survivors. Full article

Stroke remains one of the leading causes of disability worldwide, often resulting in persistent impairments in gait and balance. Traditional rehabilitation methods—though beneficial—are limited by factors such as therapist dependency, low patient adherence, and restricted access. In recent years, sensor-supported technologies, including virtual reality (VR), robotic-assisted gait training (RAGT), and wearable feedback systems, have emerged as promising adjuncts to conventional therapy. This systematic review evaluates the effectiveness of wearable and immersive technologies for gait and balance rehabilitation in adult stroke survivors. Following PRISMA guidelines, a systematic search of the PubMed and ScienceDirect databases retrieved 697 articles. After screening, eight studies published between 2015 and 2025 were included, encompassing 186 participants. The interventions included VR-based gait training, electromechanical devices (e.g., HAL, RAGT), auditory rhythmic cueing, and smart insoles, compared against conventional rehabilitation or baseline function. Most studies reported significant improvements in motor function, dynamic balance, or gait speed, particularly when interventions were intensive, task-specific, and personalized. Patient engagement, adherence, and feasibility were generally high. However, heterogeneity in study design, small sample sizes, and limited long-term data reduced the strength of the evidence. Technologies were typically implemented as complementary tools rather than standalone treatments. In conclusion, wearable and immersive systems represent promising adjuncts to conventional stroke rehabilitation, with potential to enhance motor outcomes and patient engagement. However, the heterogeneity in protocols, small sample sizes, and methodological limitations underscore the need for more robust, large-scale trials to validate their clinical effectiveness and guide implementation. Full article

Background/Objectives: Multiple sclerosis (MS) often leads to gait impairments, even in early stages, and can affect autonomy and quality of life. Traditional assessment methods, while widely used, have been criticized because they lack sensitivity to subtle gait changes. This scoping review aims to map the landscape of advanced gait analysis technologies—both wearable and non-wearable—and evaluate their application in detecting, characterizing, and monitoring possible gait dysfunction in individuals with MS. Methods: A systematic search was conducted across PubMed and Scopus databases for peer-reviewed studies published in the last decade. Inclusion criteria focused on original human research using technological tools for gait assessment in individuals with MS. Data from 113 eligible studies were extracted and categorized based on gait parameters, technologies used, study design, and clinical relevance. Results: Findings highlight a growing integration of advanced technologies such as inertial measurement units, 3D motion capture, pressure insoles, and smartphone-based tools. Studies primarily focused on spatiotemporal parameters, joint kinematics, gait variability, and coordination, with many reporting strong correlations to MS subtype, disability level, fatigue, fall risk, and cognitive load. Real-world and dual-task assessments emerged as key methodologies for detecting subtle motor and cognitive-motor impairments. Digital gait biomarkers, such as stride regularity, asymmetry, and dynamic stability demonstrated high potential for early detection and monitoring. Conclusions: Advanced gait analysis technologies can provide a multidimensional, sensitive, and ecologically valid approach to evaluating and detecting motor function in MS. Their clinical integration supports personalized rehabilitation, early diagnosis, and long-term disease monitoring. Future research should focus on standardizing metrics, validating digital biomarkers, and leveraging AI-driven analytics for real-time, patient-centered care. Full article

Background: After ischemic heart disease, stroke is globally the second leading cause of death and the second most common cause of disability. The rehabilitation of patients with chronic stroke increasingly uses advanced technologies, such as treadmill perturbation-based training (TPBT). While the results of studies with TPBT are promising, they are inconclusive due to the limited number of works and inconsistent research methodologies. Therefore, more randomized clinical trials (RCTs) are needed to evaluate TPBT’s efficacy and applicability in post-stroke rehabilitation. This prospective RCT was designed to assess whether and to what extent TPBT can improve postural balance and gait quality and reduce fear of falling in patients with chronic stroke. Methods: Fifty individuals who were at least six months post-stroke were enrolled in the trial and randomly assigned to the experimental group (EG; n = 25) to receive the TPBT or the control group (CG; n = 25) to receive overground gait and balance training. Both groups exercised six times per day for three weeks. Results: The Berg Balance Scale showed post-intervention that the postural balance improved significantly in both groups (EG, p = 0.001 and CG, p = 0.009), but the change did not statistically significantly differentiate the EG from the CG (p = 0.256). The significant improvements in walking speed over the distance of 10 m (p = 0.015) and fear of falling (p = 0.002) in the CG were not significantly different from those in the EG (p = 0.543). Conclusions: TPBT applied to patients with chronic stroke improves their postural control comparably to conventional gait and balance training but does not enhance their gait quality. Full article

Rheumatoid arthritis (RA) is a highly prevalent chronic inflammatory rheumatic disorder leading to functional impairment and sequels. The search for new biomarkers helping in detecting RA subjects of high risk of functional disability is required. Studies showing high follistatin levels in RA have been described; however, none of them have placed focus on the role of follistatin as marker of deteriorated functionality. We aim to identify whether follistatin concentrations could be a potential biomarker of physical disability and disease activity in RA patients. Fifty-seven female RA subjects and 20 age–gender-matched controls were included in a cross-sectional evaluation. An assessment of clinical characteristics, grip strength, gait speed, and muscle mass was conducted. In RA subjects, disability was assessed using HAQ-DI and active disease using the DAS28-ESR. Follistatin levels were measured by ELISA. We compared (a) RA + functional disability and (b) RA + preserved physical function. Serum follistatin levels were increased in RA subjects compared to controls (175 ± 119 vs. 133 ± 47; p = 0.030). Follistatin levels correlated with deteriorated physical function levels (r = 0.491; p < 0.001) and severe activity (r = 0.344; p = 0.009). The RA + functional disability group, as compared to the RA + preserved physical function group, had higher serum follistatin levels (218 ± 159 vs. 141 ± 59; p = 0.030), lower grip strength (7.9 ± 4.6 vs. 14.5 ± 5.1; p < 0.001), reduced gait speed (0.77 ± 0.20 vs. 0.92 ± 0.20; p = 0.010), as well as higher proportions of tender joints ≥4 (48% vs. 16%; p = 0.008), and higher disease activity scores (3.8 ± 1.5 vs. 2.8 ± 1.2; p = 0.008). We concluded that higher follistatin levels are associated with physical functional impairment and the severity of disease activity in women with RA. Future studies are required to evaluate whether these follistatin levels can be related to other outcomes such as labor disability, hospitalization, and falls. Full article

Background: Functional Neurological Disorder (FND) encompasses conditions with neurological symptoms inconsistent with structural pathology, arising instead from complex interactions between psychological, biological, and social factors. Despite growing research, the etiological and risk factor landscape remains only partially understood, complicating diagnosis and treatment. Objective: This systematic review maps risk factors for major FND subtypes such as functional seizures (psychogenic non-epileptic seizures or PNES), functional cognitive disorder (FCD), functional movement disorders (FMD), functional weakness and sensory disturbances, functional visual symptoms, and functional gait abnormalities by categorizing predisposing, precipitating, and perpetuating influences. Methods: A systematic search of PubMed, PsycINFO, Scopus, and Web of Science initially identified 245 records. After removal of 64 duplicates, 181 studies were screened by title and abstract. Of these, 96 full texts were examined in detail, and finally 23 studies met the predefined inclusion criteria. Data were extracted and analyzed thematically within a biopsychosocial framework, with results summarized in subtype-specific profiles. Results: Childhood adversity, especially emotional, physical, or sexual abuse, emerged as a robust and consistent predisposing factor across PNES cohorts. Psychiatric history (notably anxiety, depression, and PTSD), neurodevelopmental traits (more frequent in FCD), and personality patterns such as alexithymia and somatization also contributed to vulnerability. Precipitating influences included acute psychological stress, intrapersonal conflict, or concurrent medical illness. Perpetuating factors comprise maladaptive illness beliefs, avoidance behaviors, insufficient explanation or validation by healthcare providers, and secondary gains related to disability. While several risk factors were shared across subtypes, others appeared subtype-specific (trauma was especially associated with PNES, whereas neurodevelopmental traits were more characteristic of FCD). Conclusions: FND arises from a dynamic interplay of predisposing, precipitating, and perpetuating factors, with both shared and subtype-specific influences. Recognizing this heterogeneity can enhance diagnostic precision, guide tailored intervention, and inform future research into the neurobiological and psychosocial mechanisms underlying FND. Full article

Introduction: Chronic primary low back pain (CPLBP) is a prevalent condition in primary care and a leading cause of disability and absenteeism worldwide. Multidimensional approaches may be necessary to achieve physical and mental health benefits in individuals with CPLBP. Objective: The BACKFIT randomized controlled trial aims to evaluate the effectiveness of a multidimensional intervention—combining supervised exercise and mindfulness—on pain, physical fitness, mental health, and functional outcomes in individuals with CPLBP. Hypothesis: Both the supervised exercise program focused on motor control and trunk muscle strength (IG1) and the multidimensional intervention combining supervised exercise with mindfulness training (IG2) are expected to produce significant health improvements in individuals with CPLBP. It is further hypothesized that IG2 will yield greater improvements compared to IG1, both immediately post-intervention and at the two-month follow-up. Design: Randomized controlled trial. Setting: Virgen de las Nieves University Hospital, Granada (Spain). Participants: 105 individuals. Inclusion criteria: Previously diagnosed with CPLBP, aged ≥18 and ≤65 years, able to read and understand the informed consent, and able to walk, move, and communicate without external assistance. Exclusion criteria: serious lumbar structural disorders, acute or terminal illness, physical injury, mental illness, and medical prescriptions that prevent participation in the study. Intervention: Individuals will be randomly assigned to a supervised physical exercise group (2 days per week, 45 min per session), a multidimensional intervention group (same as supervised physical exercise group, and mindfulness 1 day per week, 2.5 h per session) or an active control group (usual care, 2 days per week, 45 min per session). The intervention will last 8 weeks. Main Outcome Measures: Primary outcome: pain threshold, perceived acute pain, and disability due to pain. Secondary measures: body composition, muscular fitness, gait parameters, device-measured physical activity and sedentary behavior, self-reported sedentary behavior, quality of life, pain catastrophizing, mental health, sleep duration and quality, and central sensitization. The groups will undergo pre-intervention, post-intervention, and a 2-month follow-up after a detraining period. Statistical Analysis: Both per-protocol and intention-to-treat approaches (≥70% attendance) will be used. Program effects will be assessed via one-way ANCOVA for between-group changes in primary and secondary outcomes. Conclusions: Given the complex nature of CPLBP, multidimensional approaches are recommended. If effective, this intervention may provide low-cost alternatives for health professionals. Full article

Background: Stroke remains a leading cause of long-term disability globally, frequently resulting in persistent motor and cognitive impairments. Rehabilitation is critical for promoting recovery, and dance-based interventions have emerged as a promising complementary approach. Objective: This scoping review aimed to examine the recent literature on the application of dance in stroke rehabilitation, with a particular focus on its effects on motor function (including balance and gait), cognitive performance, and quality of life. Methods: A comprehensive literature search was conducted across four electronic databases, PubMed, Embase, Web of Science, and Scopus, between January and March 2025. Studies were eligible for inclusion if they involved adult participants with a history of stroke, implemented dance-based rehabilitation interventions, and reported outcomes related to motor function, cognition, or psychosocial well-being. The review process adhered to the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines. Results: Of the 778 records initially identified, four studies met the inclusion criteria: two randomized controlled trials, one interventional study, and one feasibility study. Overall, dance-based interventions were associated with improvements in dynamic balance, gait coordination, and general mobility. Furthermore, the interventions demonstrated high levels of adherence and participant satisfaction. Conclusions: Dance-based rehabilitation may offer meaningful motor benefits for individuals recovering from stroke, particularly in improving balance, gait, and overall mobility. However, the heterogeneity of intervention protocols and the limited assessment of cognitive and psychosocial outcomes underscore significant gaps in the current literature. To establish the efficacy and underlying mechanisms of dance-based approaches, future research should prioritize high-quality randomized controlled trials employing standardized intervention designs and comprehensive outcome measures, including cognitive and quality-of-life domains. Full article