Effects of immune modulatory treatment on language and psychiatric profile in patients with electrical status epilepticus in sleep (ESES).

Electrical status epilepticus in sleep (ESES) is an electrographic pattern associated with cognitive impairment. Our study aimed to prospectively evaluate the psychiatric findings and language skills in patients diagnosed with ESES and to determine the immune modulatory treatment-responsive subgroups. We assessed the patients for psychiatric features and language skills at the baseline and 12 months after.

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

Associations of risk factors and the number of risk factors with the classification, GMFCS level and comorbidities with cerebral palsy: a retrospective study.

Objective: The objective was to explore the characteristics of risk factors in children with cerebral palsy (CP), focusing on the effects of single risk factors and the number of risk factors on the classification, GMFCS level, and comorbidities of children with CP.

Methods: The medical records of children with CP hospitalized from 2015 to 2023 were reviewed. The effects of nine risk factors, such as hyperbilirubinemia, asphyxia, and HIE, on the classification, GMFCS level and comorbidities of children with CP were studied.

Early life stress influences epilepsy outcomes in mice.

Stress is a common seizure trigger that has been implicated in worsening epilepsy outcomes, which encompasses psychiatric and cognitive comorbidities and sudden unexpected death in epilepsy (SUDEP) risk. The neuroendocrine response to stress is mediated by the hypothalamic-pituitary-adrenal (HPA) axis and HPA axis dysfunction worsens epilepsy outcomes, increasing seizure burden, behavioral comorbidities, and risk for SUDEP in mice. Early life stress (ELS) reprograms the HPA axis into adulthood, impacting both the basal and stress-induced activity.

Changes in Hippocampal Volume after Traumatic Brain Injury (TBI).

Objective: To investigate hippocampal volume changes in moderate to severe traumatic brain injury (TBI) patients compared to healthy controls and assess their association with post-traumatic epilepsy (PTE), focusing on age-related effects.

Methods: Imaging and demographic data for TBI patients were obtained from the Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx) database; healthy controls matched by age and sex were sourced from Alzheimer's Disease Neuroimaging Initiative (ADNI), the National Institute of Mental Health (NIMH) Intramural Healthy Volunteer Dataset, the Parkinson's Progression Markers Initiative (PPMI), and the Autism Brain Imaging Data Exchange (ABIDE). MRI images for TBI subjects were obtained within 14-32 days post-injury.

A Neuronal Signal Sorting and Amplifying Nanosensor for EEG-Concordant Imaging-Guided Precision Epilepsy Ablation.

Surgery remains an essential treatment for managing drug-resistant focal epilepsy, but its accessibility and efficacy are limited in patients without distinct structural abnormalities on magnetic resonance imaging (MRI). Potassium ion (K), a critical marker for seizure-associated neuronal signaling, shows significant promise for designing sensors targeting hidden epileptic foci. However, existing sensors cannot cross the blood-brain barrier and lack the ability to specifically enrich and amplify K signals in the brain with high temporal and spatial resolution.

Prevalence and correlates of alexithymia in drug-resistant epilepsies.

Introduction: Alexithymia, characterized by difficulty identifying and expressing emotions, is commonly observed in individuals with psychiatric and neurological disorders. However, its prevalence in patients with epilepsy (PWE), particularly in those with drug-resistant epilepsy (DRE), remains under-researched. This study investigates the prevalence of alexithymia in patients with DRE and explores its associated factors.

Genotype-Phenotype Correlations in SYNGAP1-Related Mental Retardation Type 5.

Variants in the SYNGAP1 gene leading to decreased SynGAP protein expression are critical for the pathogenesis of mental retardation type 5 (MRD5). This study aims to explore the relationship between SYNGAP1 genotype and clinical phenotype through an expanded sample size, thereby enhancing the understanding of the specific mechanisms underlying MRD5. Data from previously published cases of patients with SYNGAP1 mutations were collected, and the relationship between genotype and clinical phenotype was analyzed.

[Epilepsy and psychiatric disorders (epi-psy)].

EPILEPSY AND PSYCHIATRIC DISORDERS (EPI-PSY). Epilepsy is not only a brain pathology characterized by a lasting predisposition to generate seizures, it is also associated with cognitive, behavioral, psychological, and social disorders. The interaction between psychiatric pathologies and epilepsy is bidirectional and complex.

Acute cannabidiol treatment reverses behavioral impairments induced by embryonic valproic acid exposure in male mice.

Cannabidiol (CBD), the major non-psychotomimetic compound of the Cannabis sativa plant, has shown promising effects in addressing various symptoms associated with autism spectrum disorder (ASD). This neurodevelopmental disorder typically impacts cognitive, behavioral, social communication, and motor skills domains. However, effective treatments for the wide range of symptoms associated with the disorder are limited and may trigger undesirable effects.

Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder.

This report presents results of parent-implemented behavioral treatments for a child with cortical visual impairment (CVI), intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD) associated with a pathogenic variant in the SCN2A gene (i.e., SCN2A-Related Disorder).

Frontal neurodegeneration associated with Frontal Assessment Battery in early Alzheimer's disease.

Background: The Frontal Assessment Battery (FAB) is widely used to assess executive dysfunction in patients with amnestic mild cognitive impairments due to Alzheimer's disease (aMCI-AD), but its neurobiological meaning is unclear. To elucidate this, we examined the relationship between the FAB score and three key imaging biomarkers: gray matter volume, amyloid-beta (Aβ) deposition, and glucose metabolism.

Methods: Twenty Aβ- and tau-positive aMCI-AD patients and age-matched controls underwent structural magnetic resonance imaging and positron emission tomography with [C]PiB and [F]FDG.

The Effect of the Optogenetic Stimulation of Astrocytes on Neural Network Activity in an In Vitro Model of Alzheimer's Disease.

Optogenetics is a combination of optical and genetic technologies used to activate or, conversely, inhibit specific cells in living tissues. The possibilities of using optogenetics approaches for the treatment of epilepsy, Parkinson's and Alzheimer's disease (AD) are being actively researched. In recent years, it has become clear that one of the most important players in the development of AD is astrocytes.

Psychiatric Comorbidities in Persons With Epilepsy Compared With Persons Without Epilepsy: A Systematic Review and Meta-Analysis.

Importance: Several psychiatric disorders have been found to occur more frequently in persons with epilepsy (PWE) than in persons without epilepsy.

Objective: To summarize the prevalence of 20 psychiatric disorders in PWE compared with persons without epilepsy.

Data Sources: The search included records from inception to February 2024 in Ovid, MEDLINE, Embase, and PsycINFO.

Documentation of prodromal features and risk factors of dementia disease in primary care practice.

Background: Documented risk factors and prodromal features of dementia in primary care practices may support dementia prevention and early detection in routine care.

Objective: To identify documented prodromal features and risk factors of dementia before the incident dementia diagnosis in German primary care practices.

Methods: This case-control study used documented diagnoses (risk factors, prodromal features) and prescriptions of primary care practices for 73,717 patients with dementia disease and 73,717 matched controls (ratio 1:1).

Clinical applications of small-molecule GABAR modulators for neurological disorders.

Gamma-aminobutyric acid type A receptor (GABAR) modulators are crucial in treating neurological and psychiatric disorders, including epilepsy, anxiety, insomnia, and depression. This review examines the synthetic approaches and clinical applications of representative small-molecule GABAR modulators. Benzodiazepines, such as Diazepam, are well-known positive allosteric modulators (PAMs) that enhance GABAR function, providing therapeutic effects but also associated with side effects like sedation and dependence.

Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene.

Autism spectrum disorders are a group of the most common disorders of neuropsychiatric development, characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns. This group of conditions frequently co-occurs with intellectual disability, epilepsy, attention-deficit hyperactivity disorder, connective tissue disorders and others. Among the most common molecular-genetic causes of autism spectrum disorders are pathogenic variants in the CHD8 gene.