Spectrul autist și particularitățile asociate.
223 de articoleThis research focuses on developing language and speech-based biomarkers for early detection of neurocognitive and affective disorders using automated analysis. The LANGaware project aims to improve diagnostic accuracy and early intervention through objective linguistic and acoustic markers.
This integrative review examines CCR5's role as a regulator of neuroinflammation and cognitive function across multiple neurodegenerative and acquired neurological conditions including Alzheimer's disease, Parkinson's disease, MS, TBI, and stroke. Both genetic and pharmacologic CCR5 inhibition show potential to reduce neuroinflammation and preserve cognitive function, though some evidence suggests context-dependent protective roles in certain conditions, highlighting therapeutic complexity.
This empirical study examined regulatory control across autism, Down syndrome, Williams syndrome, and neurotypical development in 233 children aged 5–13 using parent-report questionnaires assessing cognitive, emotional, social, and sensory regulation. Findings revealed both shared regulatory challenges across neurodiverse groups and condition-specific differences, with cluster analyses suggesting that regulatory profiles rather than diagnostic labels better predict support needs.
A cohort study of 54 adults with Down syndrome (age ≥40) evaluated the NTG-EDSD screening tool for dementia/mild cognitive impairment, testing various scoring thresholds for sensitivity and specificity. While the tool shows promise for initiating clinical conversations and identifying need for further evaluation, it lacks sufficient standalone diagnostic accuracy for reliable dementia screening in this population.
This clinical review examines the prevalence and mechanisms underlying comorbidity between autism spectrum disorder, eating disorders, and PTSD when occurring alongside personality disorders, noting that such combinations typically increase symptom severity and suicide risk. Evidence-based treatments exist but novel approaches are needed, with future research prioritizing ASD-personality disorder trajectories and trauma-informed interventions addressing emotion dysregulation and patient engagement.
This neuroimaging study of 82 temporal lobe epilepsy patients and 50 controls examined whether disrupted functional connectivity between limbic and executive brain networks explains the bidirectional relationship between drug-resistant seizures and depression. Using resting-state fMRI combined with receptor mapping and gene expression analysis, the researchers identified specific patterns of brain network integration that statistically link drug resistance severity and depression symptoms.
A 16-year-old female with trauma history and mood disorder presented with recurrent psychogenic non-epileptic seizures (PNES) during hospitalization, characterized by unresponsiveness, irregular movements, and sympathetic activation including pupillary dilation. Video-EEG monitoring ruled out epileptic activity, confirming PNES diagnosis; treatment with sertraline and behavioral strategies including mindfulness resulted in symptom reduction and improved psychiatric outcomes by discharge.
A 23-year-old woman presented with bilateral shoulder pain and dislocation with fractures following an unwitnessed seizure, with no external trauma involved. Surgical fixation via cannulated screws and plate osteosynthesis resulted in favorable outcomes, highlighting the importance of systematic orthopedic evaluation in post-seizure patients and the potential for severe musculoskeletal injury from seizure-induced muscle contractions.
This narrative review synthesizes current evidence on epigenetic modifications (DNA methylation, histone changes, and non-coding RNAs) as potential biomarkers for diagnosing and predicting outcomes in neurological diseases including neurodegenerative disorders, multiple sclerosis, and stroke. The authors identified 65 studies demonstrating that disease-associated epigenetic signatures can distinguish patients from controls and correlate with disease severity and clinical progression across multiple neurological conditions.
This prospective study tracked 520 individuals with first-episode psychosis over 478 days and found that 2.6 per 100 person-years developed problem gambling, with risk factors including white ethnicity, stimulant use disorder, lower education, and aripiprazole treatment. The findings highlight problem gambling as an underrecognized comorbidity in early psychosis that warrants clinical attention and monitoring.
This cross-sectional study examined the prevalence of Internet Gaming Disorder (IGD) in 276 parents of children with ASD in Riyadh, using the validated Internet Gaming Disorder Scale. IGD prevalence was 44.56% overall, with significant variations by age (27.27% in ages 6–12, 62.22% in ages 12–18, and 42.20% in ages >18) and sex differences noted between males and females.
This cross-sectional study investigates whether disruptions in 24-hour rest-activity rhythms are associated with cognitive impairment and Alzheimer disease status in adults with Down syndrome using wrist actigraphy and validated cognitive assessments. The research employs rigorous statistical methods and controls for confounding variables including age, sex, intellectual disability level, and sleep apnea severity.
This study surveyed clinicians across specialties to identify barriers in diagnosing autism spectrum disorder in individuals with Down syndrome, where dual diagnosis (DS+ASD) occurs in 16-18% of cases but is often delayed. Results show most clinicians recognize that ASD diagnosis significantly impacts management, but challenges include limited access to specialized diagnostic evaluations and communication/behavioral difficulties that complicate assessment.
This large-scale cross-sectional study analyzed Centers for Medicare and Medicaid Services data from over 847,000 adults with intellectual disability (ages 30-64) and compared them to over 1 million general population controls to examine prevalence of epilepsy and young-onset Alzheimer's disease and related dementias. Results showed significantly higher prevalence of both conditions and their comorbidity in the ID population, with autism spectrum disorder associated with greatest epilepsy risk and Down syndrome with greatest dementia risk.
This study examined fecal microbiota composition and plasma Alzheimer's biomarkers in 58 adults with Down syndrome compared to controls, finding that DS individuals show reduced abundance of beneficial Roseburia bacteria and altered microbial profiles resembling those in Alzheimer's patients. The findings suggest a potential link between microbiota changes and cognitive decline in Down syndrome, contributing to understanding of why people with DS have higher Alzheimer's risk.
This case-control study examined retinal layer thickness in autistic and neurotypical adults using OCT imaging, analyzing 80 autistic and 160 control eyes. The research investigated associations between retinal structure, cognitive function, and brain volumes using standardized cognitive assessments and neuroimaging data from the UK Biobank.
This research examines how dementia presents behaviorally and psychologically in individuals who also have autism spectrum disorder. The study addresses diagnostic and clinical challenges in identifying and managing dementia symptoms in autistic populations.
This cross-sectional study examines how four different definitions of developmental disability produce varying population estimates and service utilization patterns using US national survey data and residential facility records. Understanding these definitional differences is essential for accurate prevalence estimation and effective policy analysis in planning developmental disability services.