Search Results (177)

Background/Objectives: Intracranial arachnoid cysts (Acs) are congenital, usually benign lesions that are frequently regarded as clinically silent in adulthood. Nonetheless, growing evidence indicates that Acs may be associated with subtle but measurable cognitive dysfunction. This systematic review synthesizes neuropsychological and functional neuroimaging findings in adults with intracranial Acs, with a focus on cognitive profiles, functional interactions with the adjacent cortex, and postoperative reversibility. Methods: In accordance with PRISMA 2020 guidelines, MEDLINE/PubMed and Scopus were searched for English-language studies published up to 2023 that reported neuropsychological assessments and/or functional neuroimaging in adult patients with Acs, including single-case reports, case series, and group studies with pre- and post-operative data. Results: Sixty studies met the inclusion criteria. Across anatomical locations, Acs were most consistently associated with impairments in verbal and visual memory and learning, attention, and executive functions, as well as reduced processing or psychomotor speed, whereas language deficits were less consistently observed. Several studies reported postoperative improvement in one or more cognitive domains, suggesting partial reversibility in selected patients. Functional neuroimaging findings revealed altered cortical function in regions adjacent to the cyst, including reduced regional metabolism or cerebral blood flow and task-related activation changes, supporting a functional interaction between Acs and the neighboring cortex. Conclusions: Overall, adults with Acs may exhibit subtle cognitive alterations that vary according to cyst location and appear to be moderated by compensatory mechanisms. These findings underscore the clinical relevance of systematic neuropsychological evaluation and highlight the need for prospective, standardized studies integrating cognitive and neuroimaging outcomes. Full article

Stroke often results in lasting cognitive impairments that severely reduce independence and quality of life. Traditional neuropsychological assessments rely on mean scores that provide an average estimate of overall cognitive function but neglect the fluctuations in performance. The variability in performance can be captured as inconsistency, i.e., fluctuations across multiple trials within a single task or as dispersion, i.e., fluctuations across multiple tasks. While inconsistency has been extensively studied, the impact of post-stroke cognitive impairment on cognitive dispersion is unknown. In this study, ninety-five stroke survivors (41 cognitively impaired and 54 cognitively normal) completed a neuropsychological battery that captured performance across five cognitive domains: executive function, attention, memory, language, and processing speed. We compared the stroke groups on across- and within-domain cognitive dispersion. Cognitively impaired stroke individuals showed elevated dispersion within executive function compared to cognitively normal individuals. The two groups did not differ on any other within-domain or across-domain cognitive dispersion. Post-stroke cognitive impairment increased variability within executive functioning. Incorporating cognitive dispersion into routine post-stroke assessment can advance clinical practice by identifying subtle cognitive instability, anticipate supportive needs, and tailor rehabilitation plans for improving stroke care. Full article

This systematic review evaluated the effectiveness of iterative reconstruction (IR) and deep learning reconstruction (DLR) in reducing radiation dose in computed tomography (CT) while preserving diagnostic image quality. We systematically searched PubMed, Scopus, and Web of Science (last search 22 March 2025); the protocol was registered in the OSF (DOI: 10.17605/OSF.IO/TUQDS). Eligible studies were English-language adult (≥18 years) investigations published between 2020 and 2025 that used IR or DLR and reported radiation-dose outcomes; studies on paediatric, phantom, cadaver, cone-beam, and spectral CT were excluded. In accordance with PRISMA 2020 guidelines, 4371 records were identified, and 30 met the inclusion criteria. Risk of bias was assessed using the NIH Quality Assessment Tool; most studies were deemed to be at low risk. Data were narratively synthesised and structured by a reconstruction approach and anatomical region. Across the 30 studies, IR achieved a dose reduction of 24–50% (mean ≈ 45%) and a DLR reduction of 34–89% (mean ≈ 58%); several DLR protocols enabled reductions of ≥75% without impairing diagnostic quality. Thirty studies in total were included (total N = 2581; range 24–289). It was determined that both approaches substantially reduce radiation exposure while maintaining diagnostic image quality; DLR generally demonstrates greater noise suppression and dose efficiency, especially in ultra-low-dose applications. However, heterogeneity in methods, designs, and scanner technologies limits the ability to draw uniform conclusions. Standardised protocols, multi-vendor prospective studies, and long-term evaluations are needed. Full article

Children with Down syndrome (DS) show considerable variability in social-communication and cognitive profiles, and a subset meet criteria for co-occurring autism. In the present study, we examined the associations between developmental domains and autistic trait severity in toddlers with DS. Participants included 38 toddlers (M = 4.19 years, SD = 0.99) who completed a home-based assessment, including measures of language, fine motor, and visual reception skills. Caregivers also completed standardized questionnaires on communication and executive functioning. Multiple regression analyses tested the degree of association between these developmental domains and autistic traits. Fewer words produced fewer gestures, and more impaired fine motor and visual reception scores were significantly associated with higher autism trait severity, whereas executive function domains were not significantly associated. Preliminary findings indicate that variability in language and nonverbal developmental skills contributes to the expression of autism traits in DS, underscoring the need for early, multidomain assessment approaches to support accurate identification and tailored intervention. Full article

Background/Objectives: Post-varicella arteriopathy (PVA) is a significant cause of pediatric arterial ischemic stroke (AIS) that typically involves previously healthy children within 12 months of primary varicella infection, mostly with a monophasic course. Diagnosis is based on clinical and imaging findings, and cerebrospinal fluid analysis may confirm it; treatment is empirical and heterogeneous. We describe a typical case of PVA and present a systematic review of its clinical, radiological, therapeutic, and outcome features. Methods: Following PRISMA 2020 and AMSTAR-2 guidelines, data on demographics, clinical presentation, imaging, laboratory confirmation, treatment, and outcomes were extracted across databases (PubMed, Embase, Scopus). Results: Forty-seven studies, encompassing 312 pediatric patients, were included. Mean age was 4 years with a median latency of 3.82 months from varicella to neurologic symptoms. Common presentation included hemiparesis, language impairment, and seizures. Imaging findings showed unilateral focal involvement of anterior circulation arteries, basal ganglia infarctions, and, rarely, bilateral or posterior circulation involvement. CSF VZV-DNA PCR and anti-VZV IgG were positive in 39% and 48% of tested patients. Treatment included intravenous acyclovir (34%), corticosteroids (20%), and low-dose aspirin (77%); two patients underwent acute reperfusion therapy (rt-PA or thrombectomy). Outcomes tended to be moderately favorable: 43% achieved full recovery, 45% had residual deficit, and 11% experienced recurrence. Prothrombotic state was reported, and it may influence disease severity. Conclusions: PVA is a rare distinct cause of pediatric stroke, with a generally favorable prognosis quoad vitam. Standardized guidelines and prospective studies are needed to establish evidence-based management. Clinicians should maintain a high suspicion for its diagnosis. Full article

Background: Recent research suggests that damage to right hemisphere regions homotopic to the left hemisphere language network affects language abilities to a greater extent than previously thought. However, few studies have investigated acute disruption of language after lesion to the right hemisphere. Here, we examined lesion correlates of acute speech deficits following left and right hemisphere ischemic stroke to clarify the neural architecture underlying early language dysfunction. Methods: We retrospectively analyzed 410 patients (225 left, 185 right hemisphere lesions) from the Stroke Outcome Optimization Project dataset. Presence and severity of speech deficits was measured using the National Institute of Health Stroke Scale Best Language subscore within 48 h of onset. Manual lesion masks were derived from clinical MRI scans and normalized to MNI space. Lesion-symptom mapping was conducted using voxelwise and region-of-interest analyses with permutation correction (5000 iterations; p < 0.05), controlling for total lesion volume. Results: Speech deficits were observed in 53.7% of the cohort (58.2% left, 48.1% right hemisphere lesions). In the full sample, the presence of speech deficits was associated with bilateral subcortical and perisylvian damage, including the external and internal capsules, insula, putamen, and superior fronto-occipital fasciculus. Severity of speech deficits localized predominantly to left hemisphere structures, with peak associations in the external capsule (Z = 6.39), posterior insula (Z = 5.64), and inferior fronto-occipital fasciculus (Z = 5.43). In the right hemisphere cohort, the presence and severity of speech deficits were linked to homologous regions, including the posterior insula (Z = 3.70) and external capsule (Z = 3.63), although with smaller effect sizes relative to the left hemisphere cohort. Right hemisphere lesions resulted in milder deficits despite larger lesion volumes compared with left hemisphere lesions. Conclusions: Acute speech impairment following right hemisphere stroke is associated with damage to a homotopic network encompassing perisylvian cortical and subcortical regions analogous to the dominant left hemisphere language network. These findings demonstrate that damage to the right hemisphere consistently results in acute speech deficits, challenging the traditional left-centric view of post-stroke speech impairment. These results have important implications for models of bilateral language representation and the neuroplastic mechanisms supporting language recovery. Full article

Background: Pathogenic variants in the TRIP12 gene are associated with Clark-Baraitser syndrome, a condition characterized by neurodevelopmental disorders, including intellectual disability, autism spectrum disorder (ASD), and speech delay. Phenotypic expression is variable, and facial features are not consistently present. Familial inheritance is rare. Methods: Whole-exome sequencing (WES) was performed on a proband with speech disorder and ASD, as well as on her parents. Clinical assessment included developmental, cognitive, and physical evaluations. Results: A heterozygous missense variant c.3404A>T (p. Asp1135Val) in the TRIP12 gene was identified in both the proband and her father. Both presented with speech disorder and ASD without facial features or severe intellectual disability. Conclusions: In line with recent genotype–phenotype studies, missense TRIP12 variants tend to be associated with milder neurodevelopmental presentations, typically characterized by mild to moderate intellectual impairment, variable autistic traits, limited or absent facial features, and a low incidence of epilepsy. This familial case further presents the phenotypic spectrum of TRIP12 missense variants and highlights that ASD and speech disorder may occur as isolated neurodevelopmental findings without syndromic features. The report reinforces the relevance of TRIP12 analysis in the differential diagnosis of ASD and language disorders, even in individuals lacking physical traits, supporting more accurate genetic counseling and broader awareness of inherited TRIP12-related conditions. Full article

Crashes on roadways continue to represent a major global public health concern due to high rates of death and injury, underscoring the need for predictive tools that can identify high-risk conditions and guide prevention strategies. This study develops a framework that combines structured crash records and road information with unstructured police narratives to predict injury severity using machine learning and natural language processing (NLP). The dataset is used to train, validate, and test nine models, combining three algorithms (Random Forest, AdaBoost, and XGBoost) with two NLP methods (TF-IDF and Word2Vec). Model performance is evaluated using macro-average F1-scores to address severe class imbalance. Results show that XGBoost with TF-IDF achieves the best performance (macro-F1 = 0.644), demonstrating measurable improvements from incorporating narrative features compared to structured data alone. Beyond prediction, a simulation-based sensitivity analysis is conducted on the top 100 features, identifying 11 variables with the greatest impact on severity outcomes in Kentucky. Seatbelt non-use, occupant entrapment, and impaired driver control emerge as the most influential factors, with simulated improvements leading to notable reductions in fatalities and major injuries. The study introduces a “prediction-to-prevention” framework that links injury severity prediction with simulation-based sensitivity analysis. By integrating structured and narrative crash data, the framework identifies how changes in key behavioral and roadway factors can shift injury outcomes toward less severe levels. These findings highlight the dual contribution of this study: improving predictive accuracy through narrative integration and offering actionable insights to support evidence-based traffic safety interventions. Full article

Several recent studies have utilized neuroimaging to delineate the localization and function of brain regions involved in language. However, many uncertainties persist regarding the organization of the linguistic system in the human brain. The aim of the present study was to characterize the structural changes produced in a sample of 9 patients with post-stroke aphasia (4 women; mean age = 60 years, SD = 14.86) and their relationship with performance in the entire Boston Diagnostic Aphasia Examination (BDAE). Magnetic Resonance Imaging was acquired from the brain of each patient and brain lesions were assessed. Disconnection’s severity of each white matter tract by embedding the lesion into the streamline tractography atlas of the Human Connectome Project was analyzed, and grey matter lesion load using a 7-Network Cortical parcellation template was estimated, with additional subcortical, cerebellar and brainstem parcels. Finally, all data obtained was correlated with performance in the BDAE. Somatomotor network correlated with repetition scale. The disconnection of the left acoustic radiation and inferior longitudinal fasciculus correlated with repetition sub-scale. Finally, the left U-fibers correlated with severity (a BDAE sub-scale that assesses the patient’s communicative skills), conversational speech and reading sub-scales. These findings emphasized that the disconnection of these fronto-parieto-temporal structures correlate with deficits in repetition, beyond the classical hypothesis attributing such deficits solely to the impairment of the arcuate fasciculus. Full article

Objectives: Alexander disease (AxD) is a rare neurodegenerative disorder that represents a group of leukodystrophies with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late-onset phenotypes, symptoms are often milder and difficult to diagnose. We present a diagnostic journey of a teenage male patient with a progressive gait disorder starting at the age of 13 years, with a final diagnosis of Alexander disease. Early in the course of the disease, the boy exhibited distinctive cognitive involvement and neuropsychological deterioration characterized by selective impairment of visual and long-term auditory memory, along with a decline in IQ but preserved reasoning abilities. Methods: The patient underwent an extensive neurological diagnostic workup, which included magnetic resonance imaging (MRI) of the brain, spine, and abdomen, as well as electrophysiological, metabolic, and biochemical tests. Numerous specialist consultations were conducted, including genetic, cardiology, ophthalmology, pulmonology, oncohematology, psychological, and speech–language pathology consultations. In addition, a focused literature review was performed using PubMed, Scopus, Web of Science, and Google Scholar with the search terms “Alexander disease,” “GFAP gene,” “late-onset,” “spastic paraplegia” and “GFAP variant p/Gly18Val”. Results: Whole exome sequencing revealed an extremely rare missense GFAP heterozygous variant NM_002055.5: c.54G>T (p/Gly18Val), confirming the diagnosis of AxD. Conclusions: The presented case highlights the importance of whole-exome sequencing in the diagnosis of unexplained otherwise neurological symptoms, such as progressive spastic paraplegia. Full article

Sign language recognition aims to capture and classify hand and arm motion signals to enable intuitive communication for individuals with hearing and speech impairments. This study proposes a real-time Chinese Sign Language (CSL) recognition framework that integrates a dual-stage segmentation strategy with a lightweight three-layer artificial neural network to achieve early gesture prediction before completion of motion sequences. The system was evaluated on a 21-class CSL dataset containing several highly similar gestures and achieved an accuracy of 91.5%, with low average inference latency per cycle. Furthermore, training set truncation experiments demonstrate that using only the first 50% of each gesture instance preserves model accuracy while reducing training time by half, thereby enhancing real-time efficiency and practical deployability for embedded or assistive applications. Full article

Background: Research on primary progressive aphasia (PPA) in minority languages and bilingual speakers remains limited, which can compromise accurate diagnosis and intervention. This is the case for Catalan, which lacks standardized tools for this population. Objectives: This study aimed to evaluate the Catalan version of the Comprehensive Aphasia Test (CAT-CAT) for detecting and characterizing PPA in Catalan-dominant bilingual individuals. Methods: We administered the CAT-CAT to four participants clinically diagnosed with PPA. Results: The test detected participants’ core linguistic impairments, such as anomia, and revealed distinct severity profiles consistent with PPA variant types. Moreover, it captured deficits that were not identified by routine clinical observation or informal assessment. Conclusions: This study provides the first detailed characterization of PPA in Catalan-speaking individuals and, although based on a small sample, its findings address a critical gap in neurodegenerative language research and highlight the importance of standardized tools to improve diagnosis and guide clinical interventions in bilingual speakers of minority languages. Full article

Microcephaly with early-onset, intractable seizures, and developmental delay (MCSZ) is a rare inherited neurological disorder caused by biallelic loss-of-function variants in the polynucleotide kinase/phosphatase (PNKP) gene, which encodes an enzyme critical for DNA repair. Here, we describe the clinical history of two novel patients presenting with microcephaly, epilepsy, growth deficiency, language impairment, and severe intellectual disability. Brain MRI in both cases revealed complex cerebral malformations, including lissencephaly, ventriculomegaly, dysmorphic hippocampi, and cerebellar atrophy. Next-generation sequencing (NGS) analyses identified compound heterozygous PNKP variants in both patients. In case #1, we detected the missense variant p.Gln50Glu (c.148C>G) in exon 2 (rs756746191) and a novel nonsense variant, p.Gln248Ter (c.742C>T), leading to a premature stop codon in exon 7. In case #2, we identified the frameshift variant p.Thr424GlyfsTer49, caused by a 17-nucleotide duplication (c.1253_1269dupGGGTCGCCATCGACAAC) in exon 14 (rs587784365), along with a 15-nucleotide deletion (c.1386+49_1387-33delCCTCCTCCCCTGACCCC) in intron 15 (rs752902474). Over long-term follow-up (20 and 36 years for case #1 and case #2, respectively), seizures persisted in the first patient, while full control was achieved in the second case with combined therapy of valproate and clobazam. Along with a review of the literature, these two novel cases confirm the broad phenotypic spectrum of PNKP-associated disorders and underscore the importance of including PNKP in the genetic screening of patients presenting with developmental and epileptic encephalopathy (DEE) and microcephaly. Full article

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: Increasing numbers of young people with severe neurological impairment are suffering from gastrointestinal symptoms, which may result in nutritional failure and ultimately death. Gastrointestinal dystonia is a recently described clinical diagnosis amongst patients with severe neurological impairment, and no systematic review of existing evidence currently exists. Aim: To conduct a systematic review of existing evidence for the management of gastrointestinal dystonia in children and young people with severe neurological impairment and palliative care needs. Method: A systematic review assessing pharmacological and non-pharmacological treatments was undertaken using standard Cochrane methodology. We searched Cochrane CENTRAL, MEDLINE, EMBASE, and PsycInfo. All databases were searched from inception, and no language restrictions were used. Results: 1580 references were identified. After abstract screening, 56 references were reviewed at full text, and a case report and case series were identified for inclusion. Low-quality, indirect evidence exists for the management of gastrointestinal dystonia, including symptom management, hydration and nutrition decisions, and end-of-life care. Conclusions: There is a paucity of existing evidence directly relating to gastrointestinal dystonia, but low-quality indirect evidence from studies of children with severe neurological impairment and gastrointestinal symptoms exist, which may begin to inform clinical practice. Full article