Gait Disturbance Research Articles

Osmotic demyelination syndrome: revisiting the diagnostic criteria through two fatal cases

BackgroundOsmotic Demyelination Syndrome (ODS) encompasses Central Pontine Myelinolysis and Extrapontine Myelinolysis, both of which are serious neurological conditions linked to the overly rapid correction of hyponatremia. Despite growing evidence, the exact etiology of ODS remains incompletely understood. The present paper describes two case studies, aiming to provide a comprehensive overview of the pathological findings and clinical outcomes associated with ODS.Case presentationCase #1. A 74-year-old woman was admitted to the emergency department following a head trauma caused by a loss of consciousness. Initial laboratory tests revealed severe hyponatremia (sodium level of 101 mmol/L) and hypokalemia (potassium level of 2.9 mmol/L). The patient underwent corrective therapy with saline and potassium chloride. Despite the correction of electrolyte imbalances, the patient developed a hyperintense lesion in the median portion of the pons on T2-fluid-attenuated inversion recovery (FLAIR) MRI sequence 14 days post-treatment, consistent with ODS. The patient’s condition deteriorated, leading to irreversible coma and status epilepticus, culminating in death 32 days after admission. Case #2. An 81-year-old woman with a medical history of hypothyroidism, hypertension, major depression, and stage 3 chronic kidney disease presented with mild gait disturbances. Subsequent testing revealed severe hyponatremia (sodium level of 100 mmol/L). Following an initial clinical improvement due to sodium correction, the patient’s condition worsened, with symptoms progressing to confusion, lethargy, and eventually, ODS. Dermatological manifestations, including blistering lesions and facial edema, appeared as the condition advanced. The patient succumbed to irreversible coma 47 days after admission.ConclusionODS traditionally carried a poor prognosis, with high mortality rates and diagnoses often made postmortem. However, recent advances in understanding the pathophysiology, along with improvements in diagnostic techniques such as MRI and intensive care treatments, have led to earlier identification, treatment, and recognition of milder forms of the syndrome. Despite these advancements, ODS remains a critical condition with significant risks, particularly following the rapid correction of severe hyponatremia.

Altered gait speed and brain network connectivity in Parkinson's disease.

Slow gait speed and disrupted brain network connectivity are common in patients with Parkinson's disease (PD). This study aimed to clarify the relationship between gait speed and clinical characteristics in PD, and explore the underlying brain network mechanisms. Forty-two PD patients and 20 healthy controls (HC) were recruited. Statistical independent component analysis and correlation analysis were employed to investigate underlying neural mechanisms and relationships. PD patients exhibited significantly slower gait speed, which showed a significant negative correlation with postural instability and gait disturbance scores. Network connectivity analysis revealed decreased intranetwork functional connectivity (FC) within visual network (VN) and cerebellum network (CN), but increased internetwork FC between CN and both sensorimotor network (SMN) and frontoparietal network (FPN) in PD patients compared to HC. The slow gait speed PD subgroup demonstrated increased intranetwork FC within SMN and VN, along with decreased FC between VN and both FPN and default mode network. Correlation analyses revealed negative correlation between gait speed and FC of CN and positive correlation to FC of CN-SMN. Our study identified relationships between gait speed and clinical characteristics, and corresponding network connectivity alterations in PD patients, providing insights into the neural mechanisms underlying gait impairments in PD.

New onset of ataxic dysarthria with CSF overdrainage syndrome: A case report

Cerebrospinal fluid (CSF) overdrainage syndrome occurs when excessive CSF drainage from the cranial cavity results from a spinal CSF leak or overdrainage through a ventriculoperitoneal (VP) or lumboperitoneal (LP) shunt. Symptoms include severe orthostatic headache, worsening with sitting or standing but improving when recumbent. The headache is typically dull, throbbing, and bilateral and may be exacerbated by Valsalva maneuver, coughing, or straining. Additional symptoms can include dizziness, nausea, vomiting, gait disturbances, diplopia, back pain, and seizures. We present a case of overdrainage syndrome following LP shunt placement for idiopathic intracranial hypertension in a 38-year-old woman with Ehlers–Danlos syndrome (EDS). One year post-surgery, she reported worsening headaches and nausea after prolonged upright positioning. Neurological examination revealed cerebellar dysfunction, including dysdiadochokinesia, intention tremor, and ataxic dysarthria. This condition gradually emerged 6 months post-LP shunt placement and was attributed to chronic overdrainage. After 1 day of observation, the patient underwent surgery to clamp the LP shunt outflow, resulting in overnight symptom resolution, including ataxic speech. This case underscores the importance of recognizing ataxic dysarthria in conjunction with low intracranial pressure syndromes, particularly in patients with EDS. It emphasizes the need to be aware of the diverse clinical manifestations of EDS and their relationship to altered CSF pressure syndromes.

Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders.

Progressive myoclonus epilepsy (PME) is a rare, clinically and genetically heterogeneous epilepsy syndrome, and pathogenic variants in the semaphorin 6B (SEMA6B) gene have recently been reported to be among the causes of PME. Cases with pathogenic variants in the SEMA6B gene are extremely rare, only a limited number of cases have been reported in the literature. In this systematic review, we aimed to present a summary of a PME case in which a heterozygous nonsense variant of c.2086C > T p.(Gln696*) in the SEMA6B gene was detected in the etiology and other cases with SEMA6B pathogenic variant in the literature. Except for our case, 35 cases from 12 studies were included. The main clinical findings in these patients were cognitive problems, seizures, gait and speech disturbances, and cognitive and/or motor regression, and they had a wide spectrum of severity. Response to antiseizure medications was also highly variable, almost half of the patients had pharmacoresistant seizures. Patients were divided into four different phenotypic groups according to their clinical presentations: PME (18/36), developmental and epileptic encephalopathy (13/36), neurodevelopmental disorder (4/36), and epilepsy (1/36), respectively. In conclusion, although SEMA6B has been associated with PME, it may actually cause a much broader phenotypic spectrum. Due to their extreme rarity, our knowledge of SEMA6B-related disorders is limited. As with all other rare diseases, each new SEMA6B-related disorder case could contribute to a better understanding of the disease. A better understanding of the disease may allow the development of specific treatment options in the future.

Quadrigeminal plate lipoma presenting with seizures and hydrocephalus in a child – A case report

Background: Intracranial lipomas are rare, benign lesions with no neoplastic origin. Most affected patients are asymptomatic and are typically pediatric or young adults. We describe a case of a child with a quadrigeminal plate lipoma presenting with seizures and hydrocephalus. Case Description: A 6-year-old boy presented with dysarthria, spasticity, gait disturbances, headaches, and seizures. Magnetic resonance imaging revealed a lipomatous lesion in the quadrigeminal cistern with ventriculomegaly. An endoscopic third ventriculocisternostomy was performed for obstructive hydrocephalus, and a biopsy confirmed a lipoma. Over 6 years of follow-up, the patient’s seizures remained controlled, and the lesion remained stable. Conclusion: Conservative management with symptomatic control is recommended, given the typically benign progression of lipomas. Seizures are generally well managed with antiepileptic medications. Surgical resection should be reserved for cases where expansive lesions cause significant symptoms or hydrocephalus.

Gait and Balance Disturbances by Porencephalic Cyst in Adulthood

Gait and Balance Disturbances by Porencephalic Cyst in Adulthood

Pathological study of progressive supranuclear palsy the cases with mutations in Bassoon.

Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.Pro3866Ala in the Bassoon (BSN) gene in a Japanese family with PSP-like syndrome. We newly detected BSN mutations in two autopsied PSP cases carrying p.Thr2542Met and p.Glu2759Gly, respectively. The case with p.Thr2542Met mutation showed neurological symptoms including behavioral abnormalities, cognitive dysfunction, and parkinsonism. Brain magnetic resonance imaging (MRI) showed atrophy of the midbrain tegmentum and hippocampus. Pathologically, moderate to severe loss of neurons with gliosis was also found in the substantia nigra, and there was an almost complete loss of neurons with gliosis in the transitional zone of the cornu ammonis (CA) 1 region to the subiculum. NFTs were observed in the globus pallidus, subthalamic nucleus, substantia nigra, and CA1. 4R tau-dominant tauopathy was detected. The case with p.Glu2759Gly mutation showed neurological symptoms, including right-dominant motor impairment, right limping gait, postural instability, and cognitive dysfunction. Brain MRI showed mild atrophy of the midbrain tegmentum and left-dominant parietal lobe atrophy. Pathologically, NFTs were detected in the globus pallidus, subthalamic nucleus, substantia nigra, thalamus, putamen, and brainstem tegmentum. Most neurons were immunopositive for four-repeat tau, whereas only a few of them harbored three-repeat tau-positive NFTs in the hippocampus. We showed the results of a pathological study of PSP cases with BSN mutations; these were two new cases. The clinical phenotypes were similar to the first case in the point of neurological symptoms. Accumulation of four-repeat tau was dominant. Further autopsies of BSN mutation cases and further elucidation of the molecular biological mechanism are desirable.

Case Report: Unmasked: Deceptive pediatric spinal meningioma

Introduction Pediatric meningiomas are rare tumors originating from the meninges’ arachnoid cap cells, representing a small fraction of all meningiomas. The clinical presentation of pediatric meningiomas varies widely depending on their location within the central nervous system. We report a case of pediatric spinal meningioma revealed by gait disturbance. We emphasize clinical and imaging features, as well as therapeutic management of spinal meningiomas. Case presentation We present the case of a 15-year-old boy with a one-year history of chronic thoracic back pain, worsening gait disturbances, and difficulty walking. Neurological examination revealed a spastic gait with increased muscle tone and bilateral pyramidal syndrome. Magnetic resonance imaging (MRI) demonstrated a posterior intradural extramedullary mass at the T6-T7 level, causing dorsal spinal cord compression. The patient underwent complete resection of the tumor, and histological examination confirmed the diagnosis of a WHO grade I psammomatous spinal meningioma. Conclusion This case highlights the clinical and imaging characteristics of spinal meningiomas in pediatric patients. MRI remains the gold standard for diagnostic imaging, effectively narrowing down differential diagnoses. However, a definitive diagnosis requires histological examination. The primary therapeutic approach for pediatric meningiomas is surgical resection.

Examining the effects of non-immersive virtual reality game-based training on knee hyperextension control and balance in chronic stroke patients: a single-blind randomized controlled study.

Post-stroke hemiparesis can lead to decreased mobility, gait disturbances, impaired balance, postural instability, limitations in activities of daily living (ADL), and long-term disability. The aim of this study was to examine the effect of non-immersive virtual reality game-based training (nIVRGT) in addition to conventional rehabilitation in stroke patients on dynamic balance, knee hyperextension control, and ADL. Twenty-five chronic stroke patients aged between 51 and 70 were included in the study. Stroke patients were randomized to a control group (n = 12) and a study group (n = 13). Individuals in control group participated conventional physiotherapy and rehabilitation program for 60min, 3 days a week for 6 weeks. individuals in the study group received 40min of conventional physiotherapy and rehabilitation program plus 20min nIVRGT. Functional Reach Test, Timed Up and Go Test, Computerized Gait Evaluation System and Barthel Index were used in the evaluation. The study group improved significantly in dynamic balance, knee control, and ADL (p < 0.05). In the control group, significant improvements were observed in dynamic balance and knee control (p < 0.05), except ADL (p > 0.05). The study group improved in dynamic balance compared with the control group (p < 0.05). Knee control and ADL improved similarly in both groups (p > 0.05). Our results showed that conventional and additional nIVRGT rehabilitation improved dynamic balance and knee hyperextension control in chronic stroke. However, it was observed that the non-immersive virtual reality (nIVR) approach was more effective in improving dynamic balance in stroke patients than conventional rehabilitation alone. NCT05907473.

Effects of puerarin on gait disturbance in a 6-hydroxydopamine mouse model of Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder caused by dopamine (DA) neuronal dysfunction. Although DA agonists and N-methyl-D-aspartate receptor (NMDAR) antagonists are used to treat PD, chronic use causes severe side effects. Puerarin (PUE) is a natural bioactive compound that affects the DA system; however, its effect on PD-associated motor functions is unknown. Therefore, we investigated whether PUE treatment in a 6-hydroxydopamine (6-OHDA) PD mouse model affects motor dysfunction. Adult male ICR mice received unilateral 6-OHDA microinfusion into the right medial forebrain bundle. After a 2-week recovery period, PUE (20 or 50mg/kg) or the vehicle (saline, VEH) was administered intraperitoneally once daily for 21 days. Motor dysfunction was assessed using the locomotion, gait cycle, and rotation tests. Local field potentials (LFPs) were measured in the substantia nigra compacta (SNc), striatum (STR), subthalamic nucleus (STN), and primary motor cortex. 6-OHDA-lesioned PD mice showed increased gait cycle disturbance and unidirectional rotation. PUE treatment ameliorated the gait cycle disturbance, but not unidirectional rotation of PD mice. These effects differed with DA agonist treatment (which improved PD symptoms) and NMDAR antagonist treatment (which aggravated PD symptoms). Moreover, locomotion was increased only in NMDAR antagonist treatment. PUE treatment induced no changes in the attenuated LFP of the beta wave in the STR and STN, and SNc-STN delta-wave coherence was shown in PD animals. This study suggests that PUE is a beneficial co-therapeutic agent for alleviating gait cycle disturbance in PD symptoms.

Potential biomarkers for lameness and claw lesions in dairy cows: A scoping review.

One of the major challenges in lameness management is prompt detection, especially before visible gait disturbance. This scoping review describes the potential biomarkers for lameness in dairy cows reported in the literature, their relevance in lameness diagnosis, identifying cows at risk of developing claw lesions and monitoring recovery after treatment. Using specific keywords, a comprehensive literature search was performed in three databases: PubMed, Google Scholar and ScienceDirect to retrieve relevant articles published between 2010 and 2022. A total of 31 articles fulfilling the inclusion criteria were analysed. The categories of potential markers for lameness reported in the literature included acute phase proteins (APPs), nociceptive neuropeptides, stress hormones, proteomes, inflammatory cytokines and metabolites in serum, urine and milk. Cortisol, APPs (serum amyloid A and haptoglobin) and serum, urinary and milk metabolites were the most studied biomarkers for lameness in dairy cows. While APPs, nociceptive neuropeptides and blood cortisol analyses assisted in elucidating the pain and stress experienced by lame cows during diagnosis and after treatment, evidence-based data are lacking to support their use in identifying susceptible animals. Meanwhile, metabolomic techniques revealed promising results in assessing metabolic alterations occurring before, during and after lameness onset. Several metabolites in serum, urinary and milk were reported that could be used to identify susceptible cows even before the onset of clinical signs. Nevertheless, further research is required employing metabolomic techniques to advance our knowledge of claw horn lesions and the discovery of novel biomarkers for identifying susceptible cows. The applicability of these biomarkers is challenging, particularly in the field, as they often require invasive procedures.

Spinal Upper Thoracic Extradural Meningioma: A Case Report and Literature Review

The most common extradural spinal lesions are metastatic tumors. However, approximately 2.5% to 3.5% of spinal meningiomas are extradural meningiomas. This article describes a rare case of a thoracic extradural meningioma. A 58-year-old woman was admitted following two months of gait disturbance. Magnetic resonance imaging suggested an extradural meningioma at the T1-5 level. Radical surgical resection was performed, and the lesion was pathologically identified as meningothelial meningioma. Additionally, we reviewed and summarized 12 cases of spinal extradural masses since 2018. Based on the literature, we discuss the location, pathology, and clinical outcomes of these uncommon lesions.

Assessing the Efficacy of Lokomat Training in Pediatric Physiotherapy for Cerebral Palsy: A Progress Evaluation

Background: Gait disturbances in children with cerebral palsy can increase the hindrance caused by loss of independence and social engagement. The Lokomat, developed by Hocoma, shows promise as a supplementary tool for gait rehabilitation. This study investigates the impact of Lokomat training on gait parameters and trends observed during training. Methods: A total of 26 children (13 male individuals) with a diagnosis of cerebral palsy (CP), aged 4 to 23 years, were enrolled in the study. Patients participated in a standard comprehensive rehabilitation program with additional Lokomat training sessions. Gait function was assessed using the Timed Up and Go Test (TUG) and the 10 m walking test (10mWT) at the beginning and end of the rehabilitation period. Changes in Lokomat parameters (step number, session duration, speed, body weight support, and guidance force) were also analysed. Results: The median duration of the 10mWT and TUG significantly decreased across the groups after the treatment program. The highest increases were observed for the number of steps taken. Across the entire cohort, the linear trend curves for distance and number of steps exhibited near-perpendicular alignment with the horizontal axis, suggesting significant improvement in these parameters. A consistent trend was noted for speed, with the trend line aligned parallel with the horizontal axis. Decreasing trends were observed for body weight support and guidance force. Conclusions: Therapy with the Lokomat functioning as the active gait orthosis can be used as a form of support to the standard rehabilitation protocol for patients with CP.

Comparison of gait deviation index (GDI) and gait variability index (GVI) measured by marker-based and markerless motion capture systems in children with cerebral palsy (CP)

BackgroundThe Gait Deviation Index (GDI) is a metric clinicians use to assess overall gait pathology in children with cerebral palsy (CP) by comparing kinematic data to a normative sample. The Gait Variability Index (GVI) is a related metric that quantifies the variability in spatio-temporal variables during gait. The GDI and GVI have been verified using marker-based motion capture approaches, but video-based markerless motion capture has not been compared using these tools in children with CP. Research questionDo GDI and GVI scores differ when measured using markerlessTheia3D and a marker-based approach between the more and less affected legs in children with CP? MethodsFifteen children with CP (GMFCS levels I-IV) and 24 typically developing children aged 6–18 years were recruited for this study. Overground walking was performed at a self-selected pace while the pelvis and lower limb kinematics were simultaneously recorded using both motion capture systems. Differences in GDI and GVI scores when considering the effect of system and limb impairment were analyzed using two-way repeated-measures ANOVAs. ResultsGDI scores were 6.9 points lower (p < 0.05) when measured using Theia3D compared to the marker-based approach and 6.8 points lower (p < 0.05) in the more affected limbs than in the less affected limbs. These GDI score differences are considered clinically significant. No differences were identified in GVI scores between systems or limb impairment. Differences in kinematic measurements were found in children with CP, including pelvic tilt, hip flexion/extension, hip rotation, and foot progression angle, where root mean square differences between systems exceeded 10°. SignificanceTheia3D can adequately measure variability in spatio-temporal gait parameters for quantifying GVI scores in children with CP compared to the marker-based approach. However, caution is needed when quantifying lower limb kinematics and interpreting GDI and GVI scores using Theia3D in children with CP.

Alzheimer’s Disease: Understanding Motor Impairments

Alzheimer’s disease (AD), the most prevalent neurodegenerative disorder and the leading cause of dementia worldwide, profoundly impacts health and quality of life. While cognitive impairments—such as memory loss, attention deficits, and disorientation—predominate in AD, motor symptoms, though common, remain underexplored. These motor symptoms, including gait disturbances, reduced cardiorespiratory fitness, muscle weakness, sarcopenia, and impaired balance, are often associated with advanced stages of AD and contribute to increased mortality. Emerging evidence, however, suggests that motor symptoms may be present in earlier stages and can serve as predictive markers for AD in older adults. Despite a limited understanding of the underlying mechanisms driving these motor symptoms, several key pathways have been identified, offering avenues for further investigation. This review provides an in-depth analysis of motor symptoms in AD, discussing its progression, potential mechanisms, and therapeutic strategies. Addressing motor symptoms alongside cognitive decline may enhance patient functionality, improve quality of life, and support more comprehensive disease management strategies.

Best supportive care for patients with primary progressive multiple sclerosis (PPMS) in Germany prior to ocrelizumab treatment: Final results from the RETRO PPMS study.

Best supportive care (BSC) measures are an essential component for the management of primary progressive multiple sclerosis (PPMS). RETRO PPMS (ML39631) is the first study to systematically analyze the therapeutic journey and standard of BSC of patients with PPMS in Germany. This multicenter, non-interventional study retrospectively analyzed patient charts. Methods: Data were recorded up until the first infusion of ocrelizumab (July 2018 to October 2021). Medical history, disease status, disease activity and treatments were assessed from 12 months before PPMS diagnosis until study start. Acute interventions, BSC parameters and rehabilitation measures from the past 27 months were assessed. The core analysis population (N = 462) had a mean age (range) of 57.4 (27-85) years and mean disease duration of 13.7 (0.3-55.2) years. The most frequently reported symptoms were muscle spasticity, bladder disorder, ataxia, gait disturbance and fatigue. The most commonly used treatment was physical/occupational therapy (66.5% of patients); 47.2% received off-label treatment with corticosteroids/disease-modifying therapies. BSC measures for many symptoms were strikingly rare - especially for fatigue and cognitive impairment. This analysis uncovers severe BSC deficits for many debilitating PPMS symptoms. There is still a large unmet need for innovative multidisciplinary care concepts and improvements in neurological primary and secondary care.

The Development of Postoperative Hydrocephalus following Midline Posterior Cranial Fossa Tumors with Hydrocephalus Surgery with Preoperative Ventriculoperitoneal (V-P) shunt in Pediatric Patients

Background: Posterior cranial fossa tumors are the most common tumors in children and constitute about two-thirds of pediatric brain tumors. Such pediatric patient presents with symptoms and signs of raised intracranial pressure. All pediatric patients were diagnosed with midline posterior cranial fossa tumors with hydrocephalus. The ventriculoperitoneal shunt was done before definitive surgery for all patients. Definitive surgery was done later on. These patients were followed up to the 7th postoperative day following definitive surgery. We assessed the development of postoperative hydrocephalus. Objectives: The objective of the study was to assess the development of postoperative hydrocephalus of midline posterior cranial fossa tumors with hydrocephalus after definitive surgery following ventriculoperitoneal (V-P) shunt in pediatric patients. Methods: This cross-sectional experimental study was conducted in the Department of Neurosurgery, Bangabandhu Sheikh Mujib Medical University, and the Department of Pediatrics Neurosurgery, National Institute of Neurosciences &amp; Hospital, Dhaka from March 2018 to September 2019. A total of 43 pediatric patients were included in this study. All pediatric patients were diagnosed with midline posterior cranial fossa tumors with hydrocephalus. The ventriculoperitoneal shunt was done before definitive surgery. Later on, definitive surgery was performed. Follow-up of these patients was done up to the 7th postoperative day. The development of postoperative hydrocephalus was observed. Data were processed and then analyzed. Demographic data were expressed in numbers and percentages. The development of postoperative hydrocephalus was expressed in number and percentage. Logistic regression was done to predict the relationship between the dependent variable (development of hydrocephalus) and independent variables (age, sex, and the extent of tumor removal). The odds ratio (OR) was calculated by using the Chi-square test. The chi-square test gave a Wald statistic by observing at the 95% CI of the odds ratio. Statistical significance was set to p-value &lt;0.05. Results: A total of 43 pediatric patients were included in the study from March 2018 to September 2019. In the study, the maximum patients were in the age group 11-15 years. The mean age of the patients was 8.25 years ± 4.14. The male-to-female ratio was 1.26:1. The study showed preoperative clinical features which includes headache 40 (93%), vomiting 37 (86%), visual disturbance 24 (55.8%), altered level of consciousness 3 (7.0%), gait disturbance 30 (69.8%), swallowing disturbance 9 (20.9%), papilledema 38 (88.4%), lower cranial nerves palsy 8 (18.6%). Among them, 25 patients developed postoperative complications after definitive surgery. Development of postoperative hydrocephalus was found in 2 (4.65%) patients. Logistic regression was found to be statistically non-significant in this study. Conclusion: The development of postoperative hydrocephalus of midline posterior cranial fossa tumors with hydrocephalus after definitive surgery following ventriculoperitoneal (V-P) shunt in pediatric patients was not the major complication among others. Bang. J Neurosurgery 2024; 13(2): 86-95

Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

Background. Early identification of pediatric central nervous system (CNS) tumors is important in relation to disease prognosis, as well as long-term treatment outcomes, which determine subsequent quality of life. The predominance of embryonal tumors (ETs) in early childhood actualizes the problem of timely verification of the diagnosis. Factors contributing to the extension of diagnostic time in the presented patient’s cohort include the inability to adequately verbalize complaints in young children, a wide range of clinical presentations, including nonspecific ones, the relatively low incidence of ET in the population and the low level of oncological alertness among specialists. This determines the need for a more careful assessment of the clinical manifestations and disease-associated symptoms by doctors of all specialties and, especially, primary care specialists. Aim. Analysis of clinical symptoms at the disease’s onset in pediatric CNS ET in order to determine their associations with the tumor’s characteristics (site, hystologic type) and the patient’s features. Materials and methods. A retrospective analysis of data from 124 pediatric patients with CNS ET who received treatment from 2010 to 2023 in the departments of pediatric oncology of the Almazov National Medical Research Center and the St. Petersburg Scientific Research Center for Medical Sciences (o) named after. N. P. Napalkov. The analyzed parameters were the age of manifestation, initial symptoms, duration of the anamnesis and the period before verification of the diagnosis, localization and histological type of tumors. For statistical analysis, Fisher’s exact test, modified Pearson test, Kruskal-Wallis and Mann-Whitney tests, as well as (to assess the duration of anamnesis) the Cox model were used. Results. The most common type of CNS ET in the study group was medulloblastoma (MB; 66.1%). The average age of patients, in general, was 61 months, boys predominated (58%). The median age varied depending on the histological tumor type: the maximum was 72 months in patients with medulloblastoma and the minimum was 9 months in children with atypical teratoid rhabdoid tumor (ATRT). Both medians are significantly different from the total median (29 months) of all other tumors (p = 6.53 ∙ 10-4 and p = 0.029, respectively). The most frequent symptoms in patients with ET were nausea and vomiting (68%), headache (50%), and gait disturbances (25.6%). Increased head circumference/bulging fontanel (p = 0.0016) and torticollis (p = 0.0057) were the most common symptoms associated with younger age. Headache (p = 1.30 ∙ 10-9), nausea and vomiting (p = 0.019), diplopia (p = 0.0057), weight loss (p = 0.017) and dizziness (p = 0.013) were associated with older age. Headache was predominated symptom in medulloblastoma (p = 2.60 ∙ 10-4) compared to other ETs, and less common in ATRT (p = 1.51 ∙ 10-4), which may be due to the patient’s age. Fontanel bulging in medulloblastoma, unlike other ET, was not observed, which is also associated with age. Seizures were observed in all cases of CNS neuroblastoma - significantly more often (p = 0.034) than in other ETs. The most common tumor location was the posterior cranial fossa (PCF) (83.6%). PCF localization was associated with headache (p = 0.05, borderline significance) and nausea/vomiting (p = 0.040). Parietal localization was associated with seizures (p = 0.041). Four patients in the cohort had asymptomatic disease’s manifestations. The diagnosis was established by a routine screening examination. The absence of symptoms was associated with location outside the PCF (p = 0.011) and with younger age (p = 0.053, borderline significance). The diagnosis was established in a significantly shorter time if children had symptoms such as nausea and vomiting (p=0.0017), paresis and paralysis (p=0.0059). Conclusion. In patients with CNS ETs, statistically significant relationships are revealed between age, histological type, tumor site and certain symptoms. Nevertheless, the absence of strictly specific clinical manifestation determines the indications for a careful assessment of the pediatric somatic and neurological status and timely neuroimaging in children when even potential symptoms typical for CNS tumors are identified.

Clinical features of vascular cognitive impairment

Vascular cognitive impairment (VCI) can occur in cerebrovascular disease of varying degree of severity, which requires further investigation.Objective: to identify specific features of attention deficit and executive function (EF) impairment in VCI and to determine the relationship between cognitive, neurological and radiological signs of the disease.Material and methods. The study involved 80 patients (51 with VCI – the main group and 29 healthy volunteers – the control group). All participants underwent clinical and neuropsychological examination and MRI of the brain. VCI was diagnosed according to 2014 VASCOG criteria. The neuropsychological examination included an assessment of the general cognitive function (MoCA test, MMSE); general EF (FAB, EXIT-25); episodic memory (12-word memory test and Benton Visual Retention Test); semantic memory (categorical association method); initiation and productivity of cognitive activity (literal associations); attention [TMT-A, Symbol-Digit Modalities Test (SDMT)]; cognitive flexibility (TMT-B); cognitive control (Stroop test).Results. As a result of the study, three subgroups of patients with VCI were identified: 1) predominantly attention deficit (AD); 2) AD and significant decrease in cognitive flexibility (CFD); 3) AD in combination with a significant cognitive control deficiency (CCD). The TMT-A and SDMT tests were significantly worse in all subgroups of VCI compared to the control group, with the worst SDMT score in subgroup 2. Subgroup 2 also had the longest time to complete the TMT-B test. Subgroup 3 was characterized by the worst Stroop test results, and uncontrolled arterial hypertension was more common in this group. Gait disturbances were significantly more frequent in subgroup 2, and increased reflexes of oral automatism and grasp reflex were observed in subgroup 3. White matter hyperintensity (WMH) was more pronounced in subgroup 2, and lacunar infarcts (LI) were more frequent in subgroup 3. Prevalence of LI and severity of WMH were lowest in subgroup 1.Conclusion. The main features of VCI are attention deficit and EF impairment, characteristics of EF disorders depend on the severity and type of vascular lesions of the brain. Progression of WMH is associated with more pronounced CFD and an increase in the number of LI is associated with CCD. There is a correlation between CFD and gait disturbances and between CCD and lack of primitive reflexes inhibition.

Artificial intelligence-assisted oculo-gait measurements for cognitive impairment in cerebral small vessel disease.

Oculomotor and gait dysfunctions are closely associated with cognition. However, oculo-gait patterns and their correlation with cognition in cerebral small vessel disease (CSVD) remain unclear. Patients with CSVD from a hospital-based cohort (n = 194) and individuals with presumed early CSVD from a community-based cohort (n = 319) were included. Oculo-gait patterns were measured using the artificial intelligence (AI) -assisted 'EyeKnow' eye-tracking and 'ReadyGo' motor evaluation systems. Multivariable linear and logistic regression models were employed to investigate the association between the oculo-gait parameters and cognition. Anti-saccade accuracy, stride velocity, and swing velocity were significantly associated with cognition in both patients and community dwellers with CSVD, and could identify cognitive impairment in CSVD with moderate accuracy (area under the curve [AUC]: hospital cohort, 0.787; community cohort, 0.810) after adjusting for age and education. The evaluation of oculo-gait features (anti-saccade accuracy, stride velocity, and swing velocity) may help screen cognitive impairment in CSVD. Oculo-gait features (lower anti-saccade accuracy, stride velocity, and swing velocity) were associated with cognitive impairment in cerebral small vessel disease (CSVD). Logistic model integrating the oculo-gait features, age, and education level moderately distinguished cognitive status in CSVD. Artificial intelligence-assisted oculomotor and gait measurements provide quick and accurate evaluation in hospital and community settings.