Search Results (50)

Background: Global developmental delay (GDD) affects multiple domains of early childhood development, including gross motor, cognitive and communication skills. Early, intensive, family-centered rehabilitation is considered key to optimizing functional outcomes in affected children. Case Presentation: We report a female child with GDD who began rehabilitation at our institution at 15 months of age, presenting with generalized hypotonia with superimposed fluctuating episodes of hypertonia, poor postural control, absent independent sitting, markedly reduced spontaneous motor activity, and associated cognitive and communication delay. Brain MRI at 7 months showed no parenchymal abnormality, with mildly enlarged extracerebral cerebrospinal fluid spaces and ventricular system. The metabolic and genetic evaluation performed so far, including microarray/MLPA-based screening for common microdeletion syndromes and SMN1/SMN2 genotyping, has not identified a specific underlying etiology. Diagnostic work-up is ongoing. Rehabilitation was delivered as a comprehensive, multidomain program; this report focuses specifically on the child’s motor progression. Intervention: The child underwent the Early Intensive Stojčević-Polovina Rehabilitation Method (EIR-SPM), a high-intensity, continuous approach for children with cerebral palsy, at-risk infants, and other developmental disabilities, built on parental education enabling home-based continuity of therapy. Rehabilitation focus is selected according to the child’s optimal developmental stage—the milestone showing the least abnormal movement patterns and muscle tone—rather than chronological age, with positions progressively adjusted following the trajectory of typical motor development described by Vojta. Results: Gross motor function, monitored using the Gross Motor Function Measure–88 (GMFM-88) at four assessment points from 15 months to 6 years 6 months of age, improved progressively from 10.8% to 48.9%, 64.7%, and finally 73.9%. The child achieved independent kneeling, reciprocal crawling, independent sitting in all positions, independent standing and assisted stepping. Conclusions: In this child with GDD of undetermined etiology, more than five years of intensive, family-centered rehabilitation according to the EIR-SPM were accompanied by substantial and sustained gains in gross motor function and functional independence. This report suggests that meaningful progress remains achievable even when rehabilitation begins later than the period considered optimal within the EIR-SPM framework, and that a family-centered structure may be what makes therapy of this intensity and duration sustainable. Full article

Background/Objectives: To investigate the prevalence of the Motoric Cognitive Risk (MCR) Syndrome among older adults in long-term care facilities and its associated risk factors. Methods: From January to December 2024, older adults were recruited from five long-term care facilities in Southwest China via convenience sampling. All participants underwent a series of standardized assessments, including a self-designed demographic questionnaire, the 15-item Geriatric Depression Scale (GDS-15), the Timed Up and Go (TUG) test, the Fried frailty phenotype scale, sarcopenia assessment based on the SARC-F sarcopenia screening scale, the Basic Activities of Daily Living (BADL) scale, the Lawton Instrumental Activities of Daily Living (IADL, Lawton) scale, and the Mini-Mental State Examination (MMSE). The 4 m walk test was performed to measure participants’ gait speed. This cross-sectional study aimed to explore the prevalence of MCR syndrome and its associated influencing factors among institutionalized older adults. Results: The overall MCR prevalence was 8.6%. Univariate tests detected intergroup differences in BMI, depressive symptoms, hearing loss, multimorbidity, mobility impairment, frailty and several chronic diseases (all p < 0.05). Multivariate logistic regression analysis further demonstrated that, after adjustment for confounders, higher depressive symptom scores (OR = 1.169, 95% CI: 1.079–1.265, p < 0.001), mild mobility impairment (OR = 4.725, 95% CI: 1.340–16.663, p = 0.016), moderate mobility impairment (OR = 3.921, 95% CI: 1.146–13.420, p = 0.029), and more than three chronic comorbidities were independent risk factors for MCR among institutional older adults residing in long-term care facilities (OR = 2.789, 95% CI: 1.465–5.309, p = 0.002). Conclusions: Depressive symptoms, mild-to-moderate mobility impairment and multimorbidity were independent correlates of MCR among institutional older adults. Distinct risk-factor patterns existed for SG and SCCs, highlighting the separable nature of motor and subjective-cognitive dimensions. Integrated screening for emotional, physical and chronic disease risk and personalized activity interventions are warranted for long-term care residents. Full article

Background and Clinical Significance: Alien hand syndrome (AHS) is a rare disorder of agency and complex motor control characterized by involuntary, apparently purposeful limb movements experienced as outside voluntary control. Pontine hemorrhage is an uncommon substrate, and its manifestations may overlap with sensory ataxia and other post-stroke movement disorders. Case Presentation: An 86-year-old right-handed man developed right-sided alien hand phenomena after a left pontine hemorrhage. Examination showed dysarthria, limited left gaze, diplopia, preserved muscle strength, marked right-sided proprioceptive impairment, a thalamic-hand-like posture, impaired spatial control, involuntary levitation, intermanual conflict, and purposeful-appearing rubbing movements when distracted. The diagnosis was based on loss of agency and autonomous limb behavior that could not be explained by sensory ataxia alone. Serial CT demonstrated an interval reduction in the size of the pontine hemorrhage; a representative thalamic level CT showed no evident thalamic hemorrhage or gross structural lesion, although a small CT occult ischemic lesion could not be excluded. Repeat MRI was not completed because of severe claustrophobia and anesthesia risk. EEG, formal neuropsychological testing, and standardized functional scales were unavailable. The NIHSS, assessed 15 days after admission to our hospital, was 6 points. No specific pharmacological treatment was initiated. Cognitive-behavioral rehabilitation was recommended, but transportation difficulties prevented regular attendance. Approximately three months after discharge, physician relatives reported resolution of abnormal movements and improved independent gait; no formal post-discharge examination was performed. Conclusions: Pontine hemorrhage may rarely be associated with mixed AHS phenomenology. Disruption of ascending proprioceptive and sensorimotor pathways is plausible, but the absence of advanced imaging and neurophysiological assessment precludes definitive anatomical or causal conclusions. Full article

Infantile Epileptic Spasms Syndrome (IESS) is a devastating epileptic encephalopathy of infancy that carries a high risk of lifelong neurodevelopmental disability. Timely diagnosis is critical, as every week of delay in effective treatment is associated with worse cognitive outcomes. Although synchronized electroencephalogram (EEG) and surface electromyography (EMG) recordings capture both the electrophysiological and motor signatures of spasms, accurate automated detection remains challenging due to the non-stationary nature of the signals and the absence of physiologically plausible inter-modal fusion in current deep learning approaches. We introduce IESS-FusionNet, an end-to-end dual-stream framework specifically designed for accurate, real-time IESS detection from simultaneous EEG and EMG. Each modality is processed by a dedicated Unimodal Encoder that hierarchically integrates Continuous Wavelet Transform, Spatio-Temporal Convolution, and Bidirectional Mamba to efficiently extract frequency-specific, spatially structured, local and long-range temporal features within a compact module. A novel Cross Time-Mixing module, built upon the linear recurrent attention of the Receptance Weighted Key Value (RWKV) architecture, subsequently performs efficient, time-decaying, bidirectional cross-modal integration that explicitly respects the causal and physiological properties of cortico-muscular coupling during spasms. Evaluated on an in-house clinical dataset of synchronized EEG-EMG recordings from infants with confirmed IESS, IESS-FusionNet achieves 89.5% accuracy, 90.7% specificity, and 88.3% sensitivity, significantly outperforming recent unimodal and multimodal baselines. Comprehensive ablation studies validate the contribution of each component, while the proposed cross-modal fusion requires approximately 60% fewer parameters than equivalent quadratic cross-attention mechanisms, making it suitable for real-time clinical deployment. IESS-FusionNet delivers an accurate, computationally efficient solution with physiologically inspired cross-modal fusion for the automated detection of infantile epileptic spasms, offering promise for future clinical applications in reducing diagnostic delay. Full article

Background/Objectives: Apathy is an independent risk factor for dementia and motoric–cognitive risk syndrome (MCR), a predementia syndrome characterized by slow gait and subjective cognitive complaints (SCCs). Our objective is to assess the cross-sectional association of apathy with gait velocity, SCC, and MCR in a community-based cohort of older adults. Methods: A cross-sectional survey of N = 746 community-dwelling older adults (≥60 years of age) enrolled in the Kerala Einstein Study. Apathy was measured using the Apathy Evaluation Scale (AES). Participants were stratified by AES tertile to evaluate bivariate associations, and multivariate linear and logistic regression models were used to assess the relationship of apathy with gait velocity, SCC, and MCR. Results: Compared with participants in the lowest apathy tertile, those in the highest tertile were significantly older, less physically active, and had slower gait. High-apathy participants also had lower Addenbrooke’s Cognitive Examination scores (79.4 vs. 84.5, p < 0.001) and higher depression scores (9.3 vs. 5.4, p < 0.001). Apathy was associated with slower gait velocity (β = −3.465, p ≤ 0.002), but this relationship was no longer significant after adjusting for ACE score. Apathy and SCC were significantly associated in adjusted models (p < 0.001). Although participants with MCR had higher levels of apathy compared to those without MCR (34.6 vs. 31.4, p < 0.01), prevalent MCR and apathy were not significantly associated in regression models. Conclusions: Among community-dwelling older adults in Kerala, apathy is associated with slower gait and more severe subjective cognitive complaints but not cross-sectional MCR prevalence. These findings suggest that apathy may serve as an early risk factor in dementia pathogenesis across diverse patient populations, warranting further longitudinal investigation. Full article

Prolonged hospitalization contributes to a decline in physical function and immobilization. This narrative review aims to explore physical rehabilitation approaches that address the specific characteristics of physical dysfunction in patients with schizophrenia. A literature review was conducted following an electronic search of PubMed for English-language articles published between January 2014 and January 2025. Based on the findings, a framework was constructed to categorize symptoms and physical challenges into three domains: (1) movement disorders and obesity induced by antipsychotic medications, which alter motor performance and lead to compensatory movements; (2) negative symptoms and cognitive impairments, which promote sedentary behavior and result in dysphagia, dynapenia, sarcopenia, and frailty; and (3) accelerated brain aging and disuse syndrome by schizophrenia, which impair neuromotor and cognitive function and increases the risk of physical dependency. These interconnected factors emphasize the need for targeted physical rehabilitation to maintain independence and reduce the risk of hospitalization. This review proposes a multidisciplinary approach involving psychiatrists, physical therapists, and occupational therapists, along with individualized nutritional support, as essential components of comprehensive rehabilitation strategies aimed at improving physical outcomes and reducing early mortality in this population. Full article

Restless legs syndrome (RLS) is a sensorimotor disorder with evening-predominant symptoms; convergent models implicate brain iron dysregulation and alter dopaminergic/glutamatergic signaling. Because EEG provides millisecond-scale access to cortical dynamics, we synthesized waking EEG/ERP findings in RLS (sleep EEG excluded). A structured search across major databases (1980–July 2025) identified clinical EEG studies meeting prespecified criteria. Across small, mostly mid- to late-adult cohorts, four reproducible signatures emerged: (i) cortical hyperarousal at rest (fronto-central beta elevation with a dissociated vigilance profile); (ii) attentional/working memory ERPs with attenuated and delayed P300 (and reduced frontal P2), pointing to fronto-parietal dysfunction; (iii) network inefficiency (reduced theta/gamma synchrony and lower clustering/longer path length) that scales with symptom burden; and (iv) motor system abnormalities with exaggerated post-movement beta rebound and peri-movement cortical–autonomic co-activation, together with evening-vulnerable early visual processing during cognitive control. Dopamine agonist therapy partially normalizes behavior and ERP amplitudes. These converging EEG features provide candidate biomarkers for disease burden and treatment response and are consistent with models linking brain iron deficiency to thalamo-cortical timing failures. This mechanistic review did not adhere to PRISMA or PICO frameworks and did not include a formal risk-of-bias or quantitative meta-analysis; samples were small, heterogeneous, and English-only. Full article

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and phonic tics, often including attention deficit, hyperactivity, and obsessive–compulsive behaviours. The pathophysiology involves the dysfunction of cortico-striato-thalamo-cortical circuits, primarily implicating dopaminergic hyperactivity, but also involving multiple different neurotransmitter systems. Treatment of GTS is complex, highly individualized, and influenced by considerable variability in symptom presentation. Behavioural approaches, such as Habit Reversal Therapy (HRT), play a key role, especially in milder cases. Pharmacological therapy is largely empirical and varies across countries, influenced by drug availability and the perceived risks of certain classes of drugs, particularly dopamine receptor blocking agents. Drug options for managing tics include dopamine receptor antagonists, monoamine depleting agents, and alpha-2 agonists, all of which require close monitoring for metabolic, cardiovascular, and neurological side effects. Botulinum toxin injections represent an effective solution for focal tics that are resistant to systemic treatments. Cannabinoids and antiepileptics have limited efficacy, yet they may still offer relevant therapeutic potential in selected cases. Serotonergic drugs are useful for treating obsessive–compulsive symptoms. For patients with refractory tics, deep brain stimulation (DBS) represents an intervention of last-resort; however, DBS remains off-label and consensus on optimal targets is lacking. This narrative review draws on both the relevant literature and extensive personal clinical experience to explore the complexities of managing GTS, with a focus on evidence-based treatments for tics and associated neuropsychiatric symptoms. A therapeutic algorithm is proposed, emphasizing a “start low, go slow” approach, combining pharmacological interventions with cognitive behavioural and surgical therapies, when needed. We underscore the importance of tailoring treatments to individual patient profiles and symptom variability over time, highlighting the need for further research in GTS management. 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 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

Hemolytic uremic syndrome (HUS), a thrombotic microangiopathy primarily affecting the kidneys, can also involve the central nervous system (CNS), often leading to significant morbidity and mortality. Neurologic manifestations are among the most severe extra-renal complications, particularly in children and during outbreaks of Shiga toxin-producing Escherichia coli (STEC)-associated HUS (typical (tHUS)). This review explores the clinical spectrum, pathophysiology, diagnostic workup, and age-specific outcomes of neurologic involvement in both typical (tHUS) and atypical (aHUS). Neurologic complications occur in up to 11% of pediatric and over 40% of adult STEC-HUS cases in outbreak settings. Presentations include seizures, encephalopathy, focal deficits, movement disorders, and posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging (MRI) commonly reveals basal ganglia or parieto-occipital lesions, though subtle or delayed findings may occur. Laboratory workup typically confirms microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and kidney damage, with additional markers of inflammation or metabolic dysregulation. Eculizumab is the first-line treatment for aHUS with CNS involvement, while its utility in STEC-HUS remains uncertain. Although many children recover fully, those with early CNS involvement are at greater risk of developing epilepsy, cognitive delays, or fine motor deficits. Adults may experience lingering neurocognitive symptoms despite apparent clinical recovery. Differences in presentation and imaging findings between age groups emphasize the need for tailored diagnostic and therapeutic strategies. Comprehensive neurorehabilitation and long-term follow-up are crucial for identifying residual deficits. Continued research into predictive biomarkers, neuroprotective interventions, and standardized treatment protocols is needed for improving outcomes in HUS patients with neurological complications. Full article

Congenital Rubella Syndrome (CRS) results from maternal infection with the rubella virus during pregnancy, particularly in the first trimester, when the risk of vertical transmission and severe fetal damage is highest. CRS is characterized by a broad spectrum of congenital anomalies, including sensorineural hearing loss, congenital heart defects, cataracts, neurodevelopmental delay, and behavioral disorders. Despite the absence of specific antiviral therapies, active immunization remains the only effective strategy to prevent rubella infection and its congenital consequences. Global immunization efforts, particularly in the Americas, have led to the elimination of rubella and CRS in several countries. However, challenges persist in the post-elimination era, including declining vaccine coverage, vaccine hesitancy, and setbacks caused by the COVID-19 pandemic. Diagnosis relies on maternal serology, fetal imaging, postnatal antibody testing, and molecular techniques. Management requires long-term, multidisciplinary follow-up due to the complex and lifelong sequelae affecting sensory, motor, and cognitive development. This review highlights the clinical, epidemiological, and pathophysiological aspects of CRS, while emphasizing the urgent need to maintain high vaccination coverage and strengthen surveillance systems. Sustained public health commitment is essential to prevent the reemergence of rubella and protect future generations from this preventable syndrome. Full article

Background: Motoric Cognitive Risk Syndrome (MCR), defined by the co-occurrence of subjective cognitive complaints and slow gait, is recognized as a preclinical risk state for cognitive decline. However, not all individuals with MCR experience cognitive deterioration, making early and individualized prediction critical. Methods: This study included 80 participants aged 60 and older with MCR who underwent baseline assessments including plasma biomarkers (β-amyloid, tau), dual-task gait measurements, and neuropsychological tests. Participants were followed for one year to monitor cognitive changes. Support Vector Machine (SVM) classifiers with different kernel functions were trained to predict cognitive decline. Feature importance was evaluated using the weight coefficients of a linear SVM. Results: Key predictors of cognitive decline included plasma β-amyloid and tau concentrations, gait features from dual-task conditions, and memory performance scores (e.g., California Verbal Learning Test). The best-performing model used a linear kernel with 30 selected features, achieving 88.2% accuracy and an AUC of 83.7% on the test set. Cross-validation yielded an average accuracy of 95.3% and an AUC of 99.6%. Conclusions: This study demonstrates the feasibility of combining biomarker, motor, and cognitive assessments in a machine learning framework to predict short-term cognitive decline in individuals with MCR. The findings support the potential clinical utility of such models but also underscore the need for external validation. Full article

Background. Sturge–Weber syndrome (SWS) is a rare non-hereditary neurovascular disorder characterized by capillary–venous malformations on the face, ocular vascular anomalies, and leptomeningeal capillary–venous malformations. Patients with SWS often experience cerebral perfusion impairment, increasing their risk for stroke-like episodes, seizures, and motor and cognitive impairments. Methods. We report the case of a 2-year-old boy diagnosed with SWS who developed a stroke-like episode following dye laser therapy under deep sedation. Results. Despite initial diagnostic challenges and persistent seizures, appropriate management led to full neurological recovery. Conclusions. This case highlights the importance of considering stroke-like episodes in children with SWS after stressful events such as medical procedures. Full article

Sufficient levels of physical activity are fundamental for preventing cardiovascular disease, dementia, and ultimately disability in older persons, yet this protective factor is nullified when excessive hours are spent in continuous sitting. Balancing physical activity and sedentary behavior is crucial for influencing metabolic parameters and vascular patterns, both central and peripheral, thereby reducing the risk of cardiovascular diseases, vascular dementia, and cognitive impairment. The primary goal of geriatric medicine is to improve quality of life and prevent disability by promptly identifying frail older individuals, thus mitigating both cognitive and motor impairments. Achieving this objective requires not only the optimization of pharmacological treatments but also the active promotion of a healthy lifestyle. In this context, investigating preclinical stages of disability, such as Motoric Cognitive Risk (MCR) Syndrome, which integrates physical and cognitive components of decline, becomes essential. However, despite robust evidence supporting these interventions, greater efforts are needed from the geriatric medical community to bridge the gap between scientific recommendations and everyday clinical practice. Integrating these guidelines into routine care is pivotal for delivering personalized interventions that address both physical inactivity and prolonged sedentary behavior. More research should aim to strengthen this balance, providing clearer, actionable strategies for clinicians to implement, thereby fostering the formation of evidence-based public health guidelines on physical activity specifically tailored for older persons. Full article