Search Results (745)

The efficacy of botulinum toxin A (BoNT) in alleviating motor symptoms of cervical dystonia (CD) has been well established, and it is the treatment of choice in this disease. Lately, the effect of BoNT on non-motor symptoms (NMS) such as cognitive function, depression, anxiety, pain, and sleep disturbance has been observed in patients with CD. A comprehensive clinical and functional assessment of motor (dystonia severity, gait) and non-motor symptoms (cognitive functions, depression, anxiety, sleep, and pain) has been performed in a total of 34 adult patients with cervical dystonia before and after BoNT treatment. Results have also been compared to a control group. Significant improvements in the scales assessing dystonia severity have been observed, which is in line with previous studies on the effect of BoNT on motor symptoms in dystonia. Interestingly, the results also clearly indicate that BoNT has a positive effect on NMS. Among the studied non-motor domains, depression and cognitive functions improved the most after the treatment procedure. The study highlights the potential of BoNT to positively influence non-motor symptoms in patients with cervical dystonia, although its effect on various NMS is not equal. Full article

Background and Objectives: Dual-task training (DTT) is an innovative therapeutic approach that involves the simultaneous application of two tasks, which can be motor, cognitive, or a combination of both. Children with cerebral palsy (CP) often exhibit impairments in balance, motor skills, and gait, conditions that may be amenable to improvement through DTT. The aim of this study was to determine the effectiveness of DTT in enhancing balance, walking speed, and gross motor function-related balance in children with CP. Materials and Methods: In accordance with PRISMA guidelines, a comprehensive systematic review with meta-analysis (SRMA) was conducted. Electronic databases like PubMed Medline, Scopus, Web of Science, CINAHL, and PEDro were searched up to March 2025, with no language or publication date restrictions. Only randomized controlled trials (RCTs) examining the effectiveness of DTT on balance, gross motor function, and walking speed in children with CP were included. The methodological quality and risk of bias of the included RCTs were assessed using the PEDro scale. Pooled effects were calculated using Cohen’s standardized mean difference (SMD) and its 95% confidence interval (95% CI) within random-effects models. Results: Eight RCTs, providing data from 216 children, were included. Meta-analyses suggested that DTT was more effective than conventional therapies for increasing functional (SMD = 0.65; 95% CI 0.18 to 1.13), dynamic (SMD = 0.61; 95% CI 0.15 to 1.1), and static balance (SMD = 0.46; 95% CI 0.02 to 0.9), as well as standing (SMD = 0.75; 95% CI 0.31 to 1.18; p = 0.001) and locomotion dimensions (SMD = 0.65; 95% CI 0.22 to 1.08) of the Gross Motor Function Measure (GMFM) and walking speed (SMD = 0.46; 95% CI 0.06 to 0.87). Subgroup analyses revealed that a motor–cognitive dual task is better than a motor single task for functional, dynamic, and static balance and standing and locomotion dimensions for the GMFM. Conclusions: This SRMA, including the major number of RCTs to date, suggests that DTT is effective in increasing balance, walking and gross motor function-related balance in children with CP. Full article

Shaken Baby Syndrome (SBS) is one of the primary causes of fatal head trauma in infants and young children, occurring in about 33 per 100,000 infants annually in the U.S., with mortality rates being between 15% and 38%. Survivors frequently endure long-term disabilities, such as cognitive deficits, visual impairments, and motor dysfunction. Diagnosing SBS remains difficult due to the lack of visible injuries and delayed symptom onset. Existing detection methods—such as neuroimaging, biomechanical modeling, and infant monitoring systems—cannot perform real-time detection and face ethical, technical, and accuracy limitations. This study proposes an inertial measurement unit (IMU)-based detection system enhanced with machine learning to identify aggressive shaking patterns. Findings indicate that wearable-based motion analysis is a promising method for recognizing high-risk shaking, offering a non-invasive, real-time solution that could minimize infant harm and support timely intervention. Full article

This study aimed to investigate the effects of mental fatigue on physical and cognitive performance (lower-limb power, isometric and handgrip strength, and psychomotor vigilance). Twenty-two physically active young adults (12 males, 10 females; M_age = 20.82 ± 1.47) were randomly assigned to either a Mental Fatigue (MF) or Control group (CON). The MF group showed a statistically significant (p = 0.019) reduction in non-dominant handgrip strength, declining by approximately 2.3 kg (about 5%), while no such change was observed in the CON group or in dominant handgrip strength across groups. Reaction time (RT) was significantly impaired following the mental fatigue protocol: RT increased by 117.82 ms, representing an approximate 46% longer response time in the MF group (p < 0.001), whereas the CON group showed a smaller, non-significant increase of 32.82 ms (~12% longer). No significant differences were found in squat jump performance, indicating that lower-limb explosive power may be less affected by acute mental fatigue. These findings demonstrate that mental fatigue selectively impairs fine motor strength and cognitive processing speed, particularly reaction time, while gross motor power remains resilient. Understanding these effects is critical for optimizing performance in contexts requiring fine motor control and sustained attention under cognitive load. Full article

In individuals exposed to relatively mild methylmercury, even if they appeared to be independent in activities of daily living (ADL), slower judgment and motor responses in daily activities were observed, suggesting potential cognitive impairment. To quantitatively assess this impairment, we measured reaction time (RT) in a visual search test, as a visual cognitive ability test. The study participants included 24 residents from contaminated areas with sensory impairments in the limbs but no visual field defects (E group), as well as 12 individuals from non-contaminated areas (Group C). The 24 participants from contaminated areas were further divided into two groups: 12 without hand motor coordination disorders (Group E-HA) and 12 with such disorders (Group E+HA). Participants were instructed to search for the target letter “Z” on a computer screen, and the visual stimuli consisted of two, six, or ten alphabet letters. An equal number of trials contained “Z” and did not contain “Z,” for a total of thirty trials, which were conducted twice. RT was significantly longer in Group E+HA, followed by Group E-HA, and then Group C. However, in the second test, RT decreased in all cases, with a greater reduction in the exposed groups compared to the control group. These results suggest that methylmercury exposure may cause cognitive impairment, yet it also possesses plasticity. Full article

Background/Objectives: Huntington’s disease (HD) is a neurodegenerative disorder involving the basal ganglia and is characterized by psychiatric, cognitive, and movement dysfunction, including gait and balance impairment. Given the limited efficacy of pharmacological treatments for HD motor symptoms, nonpharmacological approaches like rhythmic auditory stimulation are being explored. This study aims to describe walking performance in people with HD during rhythmic auditory stimulation using external musical cues and internal singing cues. Methods: Individuals in the manifest stage of HD performed walking in four conditions: (1) comfortable pace, (2) cognitive dual task, (3) musical cue (music was played aloud), and (4) singing cue (participants sang aloud). Sensors measured cadence, velocity, stride length, and variability. Relationships between change in cadence and motor and cognitive measures were explored. Results: While no direct measurements of synchronization were performed, limiting our interpretation, neither the external musical cue nor the singing cue significantly improved walking performance. Both cues increased variability, similar to what was observed during the dual task. Greater subjective balance confidence and better cognitive performance were associated with positive cadence change during cueing. Conclusions: Musical cues may be too cognitively demanding for individuals with Huntington’s disease as they worsen gait variability without increasing gait speed, cadence, or stride length. Although global cognition and perceived balance confidence were related to the ability to increase cadence, very few people were able to increase their cadence during either cue. Therefore, the results do not support the use of musical cues to improve gait for individuals with Huntington’s disease. Full article

Background/Objectives: Early experiences can significantly influence brain development, particularly when they occur during specific time windows known as sensitive or critical periods. Therefore, the early promotion of neurodevelopmental functions is crucial in children at risk for neurodevelopmental disabilities, such as those with cerebral palsy. This article introduces AMIRA (A Multidimensional and Integrated Rehabilitation Approach), a rehabilitative framework designed for infants at risk of neurodevelopmental disabilities. Methods: AMIRA is intended to guide clinical–rehabilitation reasoning rather than prescribe a rigid sequence of predetermined activities for the child. The theoretical foundation and structure of AMIRA are presented by formalizing its criteria, objectives, tools, and intervention procedures. The framework comprises four distinct sections, each supported by adaptive strategies to facilitate access to materials and to promote play-based interactions among the child, their environment, and communication partners. Particular attention is given to optimizing both micro- and macro-environments for children with, or at risk of, co-occurring visual impairment. Each rehabilitative section includes three progressive phases: an initial observation phase, a facilitation phase to support the child’s engagement, and an active experimentation phase that gradually introduces more challenging tasks. Results: The intervention pathways in AMIRA are organized according to six core developmental domains: behavioral–emotional self-regulation, visual function, postural–motor skills, praxis, interaction and communication, and cognitive function. These are outlined in structured charts that serve as flexible guidelines rather than prescriptive protocols. Each chart presents activities of increasing complexity aligned with typical developmental milestones up to 24 months of age. For each specific ability, the corresponding habilitation goals, contextual recommendations (including environmental setup, objects, and tools), and suggested activities are provided. Conclusions: This study presents a detailed intervention approach, offering both a practical framework and a structured set of activities for use in rehabilitative settings. Further studies will explore the efficacy of the proposed standardized approach. Full article

This study explores the potential of craft-based activities in the context of special education, focusing on a papier mâché sculpting workshop implemented at the Special Kindergarten of Komotini, Greece, as part of the Horizon Europe Craeft project. The initiative aimed to assess how such creative activities could enhance the learning experience of children with intellectual and motor impairments, foster socialization, and develop fine motor skills. With reference to literature in art therapy, craft education, and inclusive pedagogy, the study applied a mixed-methods approach combining observation, visual analysis, and a survey. The findings indicate that, despite varied levels of participation based on individual needs, all students engaged meaningfully with the materials and activities. School professionals observed increased student engagement, emotional comfort, and communication, while also identifying the activity as well adapted and replicable in similar contexts. The results highlight the value of crafts in special education, not only as a sensory and cognitive stimulus but also as a means of fostering inclusion and self-expression. The study concludes with a call for further research into the role of tactile materials and hand gestures in relation to specific impairments. Full article

Background/Objectives: Fatigue and cognitive impairment are common issues for People with Multiple Sclerosis (PwMS), affecting over 80% and 40–65%, respectively. The relationship between these two debilitating conditions is complex, with cognitive deficits exacerbating fatigue and vice versa. This study investigates the effects of a multimodal intervention combining cognitive rehabilitation and neuromodulation to alleviate fatigue and enhance cognitive performance in PwMS. Methods: The research employed multiple baselines across the subjects in a Single-Case Experimental Design (mbSCED) with a cohort of three PwMS diagnosed with Relapsing–Remitting MS. The intervention protocol consisted of a baseline phase followed by a four-week treatment involving transcranial direct current stimulation (tDCS) and cognitive training using RehaCom^® software (version 6.9.0). Fatigue levels were measured using the modified Fatigue Impact Scale (mFIS), while cognitive performance was evaluated through standardized neuropsychological assessments. Results: The multimodal protocol exhibited high feasibility and acceptability, with no dropouts. Individual responsiveness outcomes varied, with two PwMS showing significant decreases in fatigue and improvements in cognitive performance, particularly in the trained domains. Their motor performance and quality of life also improved, suggesting that the treatment had indirect beneficial effects. Conclusions: This study provides preliminary evidence for the potential benefits of integrating neuromodulation and cognitive rehabilitation as a personalized therapeutic strategy for managing fatigue and cognitive impairments in MS. Further research is needed to delineate the specific contributions of each intervention component and establish standardized protocols for clinical implementation. The insights gained may lead to more effective, tailored treatment options for PwMS. Full article

Background: Very preterm infants are at increased risk of impairment. The objective was to explore the effect of immediate parent–infant skin-to-skin contact at very preterm birth on cognition, motor, social, and language development during the two first years. Methods: The Immediate Parent-Infant Skin-To-Skin Study (IPISTOSS) was a clinical trial with inclusions between April 2018 to June 2021, in three Scandinavian neonatal intensive care units. Infants were randomised at gestational age 28 + 0 to 32 + 6 weeks plus days, to immediate and continuous skin-to-skin contact at birth or conventional care, during the first six hours of life. Results: At three months, 42 infants underwent a General Movement Assessment. At four and 12 months, 69 and 62 infants, respectively, were assessed with the Alberta Motor Infant Scale. At 24 months, language and cognition were tested in 62 infants with the Bayley Scales of Infant and Toddler Development, third edition. Parents completed the Modified Checklist for Autism in Toddlers for 57 infants. There were no significant differences in motor development, cognition, or autism spectrum disorders. A significant difference in language scores in favour of immediate skin-to-skin contact, was found, when adjusted for fathers’ education, mothers’ education, and infants’ sex, Beta (95% CI): 32.00 (7.57, 56.43) p = 0.01, 11.51 (8.94, 55.06) p = 0.007, and 32.00 (7.85, 56.15) p = 0.01, respectively. Conclusions: Skin-to-skin contact immediately at birth did not enhance cognition, motor, or social development during the first two years of life but may have been important for language skills. Our findings support the World Health Organisation guidelines recommending iSSC for preterm born infants in all settings. Full article

Background/Objectives: Dystonia, traditionally regarded as a purely motor disorder, is now increasingly recognized as involving clinically significant non-motor symptoms (NMSs) that can adversely affect patients’ health-related quality of life (HRQoL). This study aimed to assess HRQoL in Romanian patients with isolated dystonia and to evaluate the impact of two key NMSs, depression and cognitive impairment, on their HRQoL. We hypothesized that depression would have a greater adverse effect on HRQoL than cognitive impairment. Methods: A cross-sectional study was conducted involving 65 adult Romanian patients with isolated dystonia. HRQoL was measured using the Short Form-36 Health Survey (SF-36), including the physical component summary (PCS) and mental component summary (MCS). Depressive symptoms were assessed using the Patient Health Questionnaire-9 (PHQ-9), and cognitive impairment was assessed using the Montreal Cognitive Assessment (MoCA). Descriptive statistics, correlation analysis, and parametric and non-parametric tests were used. Multiple regression analysis was employed to evaluate associations between NMS and HRQoL. Results: The mean (SD) age was 56.6 (14.3) years, and 80% of participants were female. Depression and cognitive function were significantly associated with PCS (0.33 and −0.51, respectively) and MCS (0.26 and −0.78, respectively). Multiple regression analysis showed that the two NMS explained 38% of the variance in PCS and 58% of the variance in MCS. Depression had a greater impact on PCS and MCS than cognitive impairment (−0.47 vs. 0.33 and −0.72 vs. 0.16, respectively). Cognitive impairment (MoCA < 26) was present in 35.4% of patients, while 46.2% had at least mild depressive symptoms (PHQ-9 ≥ 5); 23.1% met criteria for moderate-to-severe depression (PHQ-9 ≥ 10). Depressive symptoms showed strong negative correlations with all SF-36 domains, while cognitive performance correlated modestly. Conclusions: Both depression and cognitive impairment have a significant negative impact on HRQoL in dystonia, with depression having a stronger effect, as we hypothesized. Routine screening for non-motor symptoms is essential to support better clinical outcomes and enhance patients’ quality of life. Full article

Iron deficiency (ID) is the most prevalent micronutrient deficiency globally, affecting approximately one in four individuals, with a particularly high burden among children, women of reproductive age, and populations in low- and middle-income countries. It contributes significantly to the global burden of disease, with consequences ranging from impaired cognitive and motor development in children to increased risks during pregnancy, including low birth weight, preterm delivery, and maternal mortality, as well as reduced physical performance and quality of life in adults. ID often precedes iron deficiency anemia (IDA), though clinical and functional impairments—such as cognitive deficits, immune dysfunction, and fatigue—can occur even in the absence of anemia. Despite its widespread nature, challenges remain in precisely defining, diagnosing, and treating ID effectively. Advances in diagnostic tools allow for earlier detection, while novel therapeutic strategies, including updated oral dosing regimens and modern intravenous iron formulations, offer improved efficacy and tolerability. These approaches are particularly valuable in minimizing gastrointestinal side effects and enhancing patient adherence. This review is based on a comprehensive literature search conducted primarily through PubMed and Scopus, emphasizing studies published within the past 10–15 years. It is thematically structured to explore the epidemiology, health consequences, diagnostic complexities, and therapeutic developments related to ID. It highlights the multifactorial nature of ID and underscores the urgent need for early identification, targeted interventions, and updated clinical guidelines to reduce the long-term health and societal impacts of this preventable and treatable condition. Full article

Pathogenic variants in the MAP1B gene have been associated with neurological impairment, including intellectual disability, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, brain malformations, cognitive hearing loss, short stature, and dysmorphic features. However, few cases with detailed clinical characterization have been reported. We describe a 12-year-old boy carrying a loss-of-function MAP1B variant, presenting with severe elimination disorders despite normal intelligence. He was referred to the genetics service due to persistent elimination issues, including daytime urinary incontinence, nocturnal enuresis, and fecal incontinence. He had normal motor and cognitive development, with an IQ of 99; however, he also presented with ADHD, short stature, microcephaly, and myopia. Brain MRI revealed bilaterial subependymal periventricular nodular heterotopia (PVNH). Audiometry showed normal bilateral hearing. Testing fragile X syndrome (FXS) and karyotype analyses yielded normal results. Whole exome sequencing (WES) revealed a nonsense pathogenic variant in MAP1B (c.895 C>T; p.Arg299*). No other family members showed a similar phenotype; however, a great-uncle and a great-aunt had a history of nocturnal enuresis until age 10. The patient’s deceased mother had short stature and psychiatric disorders, and a history of consanguinity was reported on the maternal side. This case broadens the phenotypic spectrum associated with MAP1B syndrome, suggesting that elimination disorder, frequently reported in FXS, should also be evaluated in MAP1B pathogenic variant carriers. In addition, the presence of short stature also appears to be part of the syndrome. Full article

This narrative review examines the effects of caffeine on brain health in older adults, with particular attention to its potential for dependence—an often-overlooked issue in geriatric care. Caffeine acts on central adenosine, dopamine, and glutamate systems, producing both stimulating and rewarding effects that can foster tolerance and habitual use. Age-related pharmacokinetic and pharmacodynamic changes prolong caffeine’s half-life and increase physiological sensitivity in the elderly. While moderate consumption may enhance alertness, attention, and possibly offer neuroprotective effects—especially in Parkinson’s disease and Lewy body dementia—excessive or prolonged use may lead to anxiety, sleep disturbances, and cognitive or motor impairment. Chronic exposure induces neuroadaptive changes, such as adenosine receptor down-regulation, resulting in tolerance and withdrawal symptoms, including headache, irritability, and fatigue. These symptoms, often mistaken for typical aging complaints, may reflect a substance use disorder yet remain under-recognized due to caffeine’s cultural acceptance. The review explores caffeine’s mixed role in neurological disorders, being beneficial in some and potentially harmful in others, such as restless legs syndrome and frontotemporal dementia. Given the variability in individual responses and the underestimated risk of dependence, personalized caffeine intake guidelines are warranted. Future research should focus on the long-term cognitive effects and the clinical significance of caffeine use disorder in older populations. Full article

Background/Objectives: The study aims to identify key cognitive and non-cognitive variables (e.g., clinical, neuroimaging, and genetic data) predicting cognitive decline in Parkinson’s disease (PD) patients using machine learning applied to a sample (N = 618) from the Parkinson’s Progression Markers Initiative database. Traditional research has mainly employed explanatory approaches to explore variable relationships, rather than maximizing predictive accuracy for future cognitive decline. In the present study, we implemented a predictive framework that integrates a broad range of baseline cognitive, clinical, genetic, and imaging data to accurately forecast changes in cognitive functioning in PD patients. Methods: An artificial neural network was trained on baseline data to predict general cognitive status three years later. Model performance was evaluated using 5-fold stratified cross-validation. We investigated model interpretability using explainable artificial intelligence techniques, including Shapley Additive Explanations (SHAP) values, Group-Wise Feature Masking, and Brute-Force Combinatorial Masking, to identify the most influential predictors of cognitive decline. Results: The model achieved a recall of 0.91 for identifying patients who developed cognitive decline, with an overall classification accuracy of 0.79. All applied explainability techniques consistently highlighted baseline MoCA scores, memory performance, the motor examination score (MDS-UPDRS Part III), and anxiety as the most predictive features. Conclusions: From a clinical perspective, the findings can support the early detection of PD patients who are more prone to developing cognitive decline, thereby helping to prevent cognitive impairments by designing specific treatments. This can improve the quality of life for patients and caregivers, supporting patient autonomy. Full article