Epilepsy Status Research Articles

Epidemiology and real-world management of childhood epilepsy in Japan: A descriptive study using a health claim database

IntroductionThe purpose of this epidemiological study was to assess the prevalence, comorbidities, and real-world management of childhood epilepsy to provide insights for enhancing epilepsy management and medical resource planning. Materials and methodsThe study encompassed insured individuals aged 0–17 years as of December 2018 who were registered at any point in 2018, for at least part of the year, in a Japanese health claims database spanning January—December 2018. Epilepsy was defined as a diagnosis of epilepsy based on the International Classification of Diseases, 10th Revision codes, and a claimed management fee for epilepsy or an anti-seizure medication (ASM) prescription for longer than 4 weeks. The prevalence of epilepsy, patient characteristics, including comorbidities, and management status, such as prescription of ASMs, were evaluated. ResultsAmong 1528,905 registered children, 9279 were identified as having epilepsy. The prevalence of epilepsy was the lowest at 1.97 per 1000 population (95 % confidence interval [CI] 1.80–2.15) in the 0–2-year age group and increased with age to 9.34 per 1000 population (95 % CI 8.98–9.72) in the 15–17-year age group, with a significantly higher prevalence in boys than in girls in the ≥12-year age group. ASMs were prescribed to 88.3 %–91.9 % of the patients. Moreover, 27 (0.29 %) patients underwent epilepsy surgery. The frequency of claiming intravenous ASMs and long-term electroencephalogram fees increased with a decrease in age. ConclusionsOur findings indicate that young children receive more medical resources than adolescents and that epilepsy surgery is underutilized. Further investigations will help improve the management of and develop measures against epilepsy.

Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.

Objective: To determine whether there is a correlation of genetic diagnosis/result with long-term seizure freedom in pediatric epilepsy patients. Methods: This was a prospective and retrospective cohort study of children with epilepsy referred for genetic testing at a single center. The primary outcomes were presence and type of genetic diagnosis (pathogenic, benign, or variant of uncertain significance) and patient epilepsy status (seizure free, treatment failure, uncertain). Epilepsy gene panels were the primary method of genetic testing. Results: The prospective cohort had 22 patients followed for >11 years and for whom genetic testing was then performed; the retrospective cohort had 78 patients with previous genetic testing followed for >8 years. In the prospective cohort, one patient each of the seizure free or treatment failure groups had a pathogenic genetic variant; mean Combined Annotation Dependent Depletion (CADD) scores 22 and 24, respectively (P = .62). In the retrospective cohort, there was no difference in the number of variants (P = .97), the variant interpretations (P = .29 ClinVar, P = .39 lab interpretation) or mean CADD scores (P = .29) between the seizure-free, treatment failure, and uncertain epilepsy patients. Whole exome and genome sequencing identified pathogenic variants in 70% of patients with treatment failure but were not performed in seizure-free patients. Significance: Our findings show no correlation of the presence or type of epilepsy gene panel result with long-term seizure freedom in pediatric patients. The yield and specificity of pathogenic variants may be higher using whole exome and whole genome sequencing in patients with treatment-resistant epilepsy. Whole exome and whole genome sequencing, or more targeted understanding of specific variants, may be needed to improve the utility of pediatric epilepsy genetic testing.

Effects of Modified Atkins Diet on Neurocognitive Function in Refractory Epilepsy

ABSTRACT Background: Diet therapy is an effective intervention to manage a wide range of seizures and has a wide range of acceptance. This anti-epileptic effect of the ketogenic diet and fasting has been linked with increased ketone levels and may lead to hypoproteinemia or growth issues. The modified Atkin diet is safe and can be taken without fluid or caloric restriction. Furthermore, the patient can use unlimited protein and fat. Objective: The study finds out the effects of the modified Atkins diet on fatigue and cognitive functional status in refractory epilepsy. Materials and Methods: Twenty-seven subjects (17 males, 10 females) suffering from refractory epilepsy were recruited. The mean age range was 09–15 years. The modified Atkins diet prescribed by diet specialists was introduced. The Visual Analog Scale was used for measuring fatigue levels, and the Quality of Life in Childhood Epilepsy was used to examine the effects on life quality in epileptic patients after 16 weeks. Results: The subject’s mean age was 11.7 ± 2.02 years. They had epilepsy for about 7.8 ± 3.1 years. The seizer frequency was about 2–5 days per week. The muscle fatigue level, seizer frequency, and quality of life were improved after 16 weeks (<0.05). Conclusion: The modified Atkins diet exhibits some encouraging results in refractory epilepsy patients.

Frequency of CD4+CD25 + (High) Foxp3+ Regulatory T cells (Tregs) in Peripheral Blood of Pediatric Patients with Autism

Abstract Background Immune system dysfunctions have been observed in autistic spectrum of disorders (ASD). Autoimmunity may have a role in ASD. In addition, skewed cytokine responses, differences in total numbers and frequencies of immune cells and their subsets, neuroinflammation, both adaptive and innate immune dysfunction, altered levels of immunoglobulins and the presence of autoantibodies in some autistic children were reported. Objective To measure the frequency of CD4+CD25 + (High) Foxp3+ Tregs in peripheral blood of children with autism in relation to the disease severity. Patients and Methods This cross-sectional study involved 30 ASD patients were enrolled from the Psychiatry and Development clinic, Children’s Hospital, Ain Shams University, after excluding children with concomitant allergic diseases or infections. Another 30 healthy children were included as a control group. Severity of ASD and associated convulsions or impaired intelligence were demonstrated. The frequency of CD4+CD25 + (High) Foxp3+ Tregs was assessed using flow cytometry. Data collected were coded, tabulated and analyzed using Microsoft Excel software Statistical analysis (SPSS) (version 21, Chicago, IL, USA). Results Thirty patients with primary ASD were recruited, including 24 males (80%) and 6 females (20%) with mean age of 6.62 ± 2.11 years. Mild illness was diagnosed in 20 patients (66.7%) and severe illness was defined in 10 patients (33.3%)%). CD4+CD25 + (High) Foxp3+ Tregs were significantly lower among autistic children compared to healthy control (mean percentage in patients 15.41 ± 32.1%, mean percentage in control 49.2 ± 42.6%, P-value <0.001). The markers were not correlated with disease severity, epilepsy status or IQ level (P = 0.716, 0.729, 0.472, respectively). However,CD4+CD25 + (High) Foxp3+ Tregs were significantly lower among male patients compared to females(Median in males 1.25 (0-96), Median in females 2.25 (1.5-84.2). CD4+CD25 + (High) lymphocytes less than 3.15 cells were found to be 80% sensitive and 73.5% specific for ASD probability (AUC was 0.816). Whereas percentage of FOXP3 less than 2.55% showed 73.3% and 76.7% sensitivity and specificity, respectively (AUC was 0.753). Conclusion CD4+CD25 + (High) FOXP3, the master promotor of Tregs, was detected in lower levels in ASD Egyptian children. A level of expression lower than 2.5% is both sensitive and specific for ASD diagnosis. We recommend considering CD4+CD25 + (High) FOXP3 as a future therapeutic target in children with ASD to achieve early, efficient management.

Related factors of acute symptomatic seizures and epilepsy in children with myelin oligodendrocyte glycoprotein antibody-associated disease

Objective: To investigate the risk factors of acute symptomatic seizures (ASS) and epilepsy in children with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Methods: A ambispective cohort study was used including 74 children with MOGAD who were admitted to the Department of Pediatrics of Peking University First Hospital from January 2013 to June 2023 and were followed up. Demographic information, clinical information, treatment status, ASS and epilepsy status were collected. The clinical phenotypes were classified. According to the presence or absence of ASS in the course of disease, the children and the course of disease were divided into groups with and without ASS. Chi-square test, Fisher exact test and Mann Whitney U test were used to analyze the correlation between symptoms and auxiliary examination characteristics and the occurrence of ASS in the two groups of children. Multivariate Logistic regression analysis was used for multivariate analysis. Results: The onset age of the 74 children with MOGAD was 6.58 (3.80, 9.67) years, including 38 females (51.4%) and 36 males (48.6%). The duration of the final follow-up was 2.67 (1.10, 4.12) years, with a total of 239 times acute clinical episodes. ASS occurred in 39.2% (29/74) children during the course of disease and in 29.3% (70/239) of attacks. The common phenotypes were ADEM (67 times (28.0%)), optic neuritis (37 times (15.4%)) and cerebral cortical encephalitis (31 times (13.0%)) in 239 times acute clinical episodes. The incidence of ASS in ADEM and cerebral cortical encephalitis phenotype was 28.4%(19/67) and 100.0% (31/31), respectively. Multivariate analysis showed that cortical involvement on magnetic resonance imaging during clinical attacks was an independent risk factor for ASS (β=-1.49, OR=0.23) after excluding attacks involving only optic nerve or spinal cord (49 episodes). During the follow-up, 5 children (6.8%) had epilepsy, and all children with epilepsy had multiple clinical attacks of MOGAD and previous ASS. Conclusions: Cortical involvement on magnetic resonance imaging during clinical episodes is an independent risk factor for ASS in children with MOGAD. All MOGAD children with epilepsy had ASS and multiple MOGAD clinical episodes in the past.

Development and validation of a nomogram for predicting intellectual disability in children with cerebral palsy

ObjectiveIntellectual disability (ID) is a prevalent comorbidity in children with cerebral palsy (CP), presenting significant challenges to individuals, families and society. This study aims to develop a predictive model to assess the risk of ID in children with CP. MethodsWe analyzed data from 885 children diagnosed with CP, among whom 377 had ID. Using least absolute shrinkage and selection operator regression, along with univariate and multivariate logistic regression, we identified key predictors for ID. Model performance was evaluated through receiver operating characteristic curves, calibration plots, and decision curve analysis (DCA). Bootstrapping validation was also employed. ResultsThe predictive nomogram included variables such as preterm birth, CP subtypes, Gross Motor Function Classification System level, MRI classification category, epilepsy status and hearing loss. The model demonstrated strong discrimination with an area under the receiver operating characteristic curve (AUC) of 0.781 (95% CI: 0.7504-0.8116) and a bootstrapped AUC of 0.7624 (95% CI: 0.7216-0.8032). Calibration plots and the Hosmer-Lemeshow test indicated a good fit (χ2= 7.9061, p = 0.4427). DCA confirmed the model's clinical utility. The cases were randomly divided into test group and validation group at a 7:3 ratio, demonstrating strong discrimination, good fit and clinical utility; similar results were found when stratified by sex. ConclusionsThis predictive model effectively identifies children with CP at a high risk for ID, facilitating early intervention strategies. Stratified risk categories provide precise guidance for clinical management, aiming to optimize outcomes for children with CP by leveraging neuroplasticity during early childhood.

Physical fitness in Indian women with epilepsy on anti-seizure medications and its association with reproductive status, quality of life and stigma: A cross-sectional study

PurposeTo determine the status of physical fitness, reproductive abnormalities, QOL and epilepsy associated stigma in women with epilepsy (WWE) and their association with ASM therapy and seizure frequency. MethodsThis cross-sectional study included WWE of reproductive age (18–50 years) on antiseizure medications (ASMs) for at least three months before enrolment. Physical fitness was assessed using International Physical Activity Questionnaires (IPAQ) and Body composition analysis. Subjects were interviewed for menstrual abnormalities [menstrual disturbance or Polycystic Ovary Syndrome (PCOS)/hirsutism]. Validated questionnaires were used for assessment of, QOL (QOLIE-10) and Stigma in epilepsy (Epilepsy Stigma Scale). Sub-group analysis was done to compare the above parameters on the basis of a) type of therapy (mono or polytherapy), b) type of ASMs treatment (conventional, newer, or conventional + newer ASMs), and c) seizure type and (d) seizure frequency. Correlation and regression analysis were done to find out the association among different variables with physical fitness. ResultsThe overall prevalence of poor physical fitness, reproductive abnormalities, worsened QOL and stigma in the enrolled WWE (n = 203) were 21.18 %, 20.19 %, 52.7 %, and 21.67 %, respectively. Sub-group analysis revealed that WWE on monotherapy (n = 99) had higher median IPAQ score (p = 0.002), comparatively less reproductive abnormalities (24.03 %, p = 0.008), and higher stigma (24.03 %, p = 0.04) than polytherapy group. WWE on conventional ASMs had significantly higher IPAQ scores compared to newer and conventional + newer ASMs groups (p = 0.02). The prevalence of poor physical fitness and stigma was significantly higher in WWE with higher number of seizures (p = 0.007, <0.001, respectively). No significant difference in QOL was observed on the basis of ASM type and therapy; however, WWE with generalized onset seizures had worsened QOL compared to those with focal onset seizures (p = 0.04). A significant negative correlation was found among seizure frequency and IPAQ score in WWE (p = 0.04). ConclusionWWE on polytherapy were physically less active, higher occurrence of reproductive abnormalities, and stigma compared to the monotherapy group. WWE with higher seizure frequency had poor physical fitness, and higher stigma compared to those with lesser number of seizures. These findings may aid value in optimization of ASM treatment in WWE of reproductive age.

Risk factors and a predictive model for the occurrence of adverse outcomes in patients with new-onset refractory status epilepsy.

To determine risk factors for the occurrence of adverse outcomes in patients with new-onset refractory status epilepsy (NORSE) and to construct a concomitant nomogram. Seventy-six adult patients with NORSE who were admitted to the Department of Neurology, First Affiliated Hospital of Sun Yat-sen University between January 2016 and December 2022 were enrolled for the study. Participants were divided into two-those with good and poor functional outcomes-and their pertinent data was obtained from the hospital medical recording system. Univariate analysis was used to identify potential causes of poor outcomes in both groups and a multivariate logistic regression model was used to identify risk factors for the occurrence of poor outcomes. Using the R programming language RMS package, a nomogram was created to predict the occurrence of poor outcomes. The NORSE risk of adverse outcome nomogram model included four predictors, namely duration of mechanical ventilation (OR = 4.370, 95% CI 1.221-15.640, p = 0.023), antiviral therapy (OR = 0.045, 95% CI 0.005-0.399, p = 0.005), number of anesthetics (OR = 13.428, 95% CI 2.16-83.48, p = 0.005) and neutrophil count/lymphocyte count ratio (NLR) (OR = 5.248, 95% CI 1.509-18.252, p = 0.009). The nomogram had good consistency and discrimination in predicting risk and can thus assist clinical care providers to assess outcomes for NORSE patients. Through ordinary bootstrap analyses, the results of the original set prediction were confirmed as consistent with those of the test set. The nomogram model of risk of adverse outcomes in NORSE adult patients developed in this study can facilitate clinicians to predict the risk of adverse outcomes in NORSE patients and make timely and reasonable interventions for patients at high risk of adverse outcomes.

Clinical outcomes among initial survivors of cryptogenic new-onset refractory status epilepsy (NORSE).

New-onset refractory status epilepticus (NORSE) is a rare but severe clinical syndrome. Despite rigorous evaluation, the underlying cause is unknown in 30%-50% of patients and treatment strategies are largely empirical. The aim of this study was to describe clinical outcomes in a cohort of well-phenotyped, thoroughly investigated patients who survived the initial phase of cryptogenic NORSE managed in specialist centers. Well-characterized cases of cryptogenic NORSE were identified through the EPIGEN and Critical Care EEG Monitoring Research Consortia (CCEMRC) during the period 2005-2019. Treating epileptologists reported on post-NORSE survival rates and sequelae in patients after discharge from hospital. Among survivors >6 months post-discharge, we report the rates and severity of active epilepsy, global disability, vocational, and global cognitive and mental health outcomes. We attempt to identify determinants of outcome. Among 48 patients who survived the acute phase of NORSE to the point of discharge from hospital, 9 had died at last follow-up, of whom 7 died within 6 months of discharge from the tertiary care center. The remaining 39 patients had high rates of active epilepsy as well as vocational, cognitive, and psychiatric comorbidities. The epilepsy was usually multifocal and typically drug resistant. Only a minority of patients had a good functional outcome. Therapeutic interventions were heterogenous during the acute phase of the illness. There was no clear relationship between the nature of treatment and clinical outcomes. Among survivors of cryptogenic NORSE, longer-term outcomes in most patients were life altering and often catastrophic. Treatment remains empirical and variable. There is a pressing need to understand the etiology of cryptogenic NORSE and to develop tailored treatment strategies.

Epidemiology of engagement in physical activity behaviors in people with epilepsy from National Health Interview Survey 2017

ObjectivePhysical activity (PA) participation may be beneficial for people with epilepsy (PWE) but has been discouraged due to a fear that it may induce seizures. Using data from the 2017 National Health Interview Survey, we aimed to describe current rates of PA sufficient to meet US PA Aerobic and Strength Training Guidelines (Aim #1), compare the average time PWE spend on aerobic activity and strength training activity (Aim #2), and compare rates of engagement with various types of PA (e.g., moderate, vigorous, strength training, and mind–body activities) among PWE to the general population (Aim #3). MethodsCross-sectional data (n = 26,728) were analyzed via logistic and zero-inflated Poisson regression models. PA participation was analyzed based on the US PA Guidelines (neither, strength training [≥2 times/wk], moderate to vigorous physical activity [MVPA; ≥ 150 min/wk], or both; Aim #1), time spent on activity/week (Aim #2), and activity participation (yes/no; Aim #3). Epilepsy status was coded as active epilepsy (doctor-diagnosed and either taking antiepileptic medication or had at least one seizure in 12 months; n = 335), inactive epilepsy (doctor-diagnosed, not taking antiepileptic medication nor had a seizure in 12 months; n = 213), and no history of epilepsy (n = 26,180). ResultsPeople with active epilepsy were more likely to report meeting neither (68 %, 95 % CI = 63–74 %) of the PA Guidelines compared to people with no history of epilepsy (59 %, 58–60 %). The mean duration of time reported on vigorous activity for people with inactive epilepsy was significantly higher than people with no history of epilepsy (p = 0.01). People with active epilepsy were 32–39 % less likely to report participating in any moderate or vigorous activity compared to people with no history of epilepsy. SignificanceThis study highlights activity disparities among PWE and the general population, indicating substantially lower activity and higher likelihood of inactivity in PWE, particularly active epilepsy.

Behavioral Outcomes and Neurodevelopmental Disorders Among Children of Women With Epilepsy

The association of fetal exposure to antiseizure medications (ASMs) with outcomes in childhood are not well delineated. To examine the association of fetal ASM exposure with subsequent adaptive, behavioral or emotional, and neurodevelopmental disorder outcomes at 2, 3, and 4.5 years of age. The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study is a prospective, observational cohort study conducted at 20 epilepsy centers in the US. A total of 456 pregnant women with epilepsy or without epilepsy were enrolled from December 19, 2012, to January 13, 2016. Children of enrolled women were followed up with formal assessments at 2, 3, 4.5, and 6 years of age. Statistical analysis took place from August 2022 to May 2023. Exposures included mother's epilepsy status as well as mother's ASM blood concentration in the third trimester (for children of women with epilepsy). Women with epilepsy were enrolled regardless of ASM regimen. The primary outcome was the Adaptive Behavior Assessment System, Third Edition (ABAS-3) General Adaptive Composite (GAC) score among children at 4.5 years of age. Children of women with epilepsy and children of women without epilepsy were compared, and the associations of ASM exposures with outcomes among exposed children were assessed. Secondary outcomes involved similar analyses of other related measures. Primary analysis included 302 children of women with epilepsy (143 boys [47.4%]) and 84 children of women without epilepsy (45 boys [53.6%]). Overall adaptive functioning (ABAS-3 GAC score at 4.5 years) did not significantly differ between children of women with epilepsy and children of women without epilepsy (parameter estimate [PE], 0.4 [95% CI, -2.5 to 3.4]; P = .77). However, in adjusted analyses, a significant decrease in functioning was seen with increasing third-trimester maximum ASM blood concentrations (PE, -7.8 [95% CI, -12.6 to -3.1]; P = .001). This decrease in functioning was evident for levetiracetam (PE, -18.9 [95% CI, -26.8 to -10.9]; P < .001) and lamotrigine (PE, -12.0 [95% CI, -23.7 to -0.3]; P = .04), the ASMs with sample sizes large enough for analysis. Results were similar with third-trimester maximum daily dose. This study suggests that adaptive functioning of children of women with epilepsy taking commonly used ASMs did not significantly differ from that of children of women without epilepsy, but there was an exposure-dependent association of ASMs with functioning. Thus, psychiatric or psychological screening and referral of women with epilepsy and their offspring are recommended when appropriate. Additional research is needed to confirm these findings.

Differential Regulation of Wnt/β-catenin Signaling in Acute and Chronic Epilepsy in Repeated Low Dose Lithium-Pilocarpine Rat Model of Status Epilepticus

Epilepsy is a chronic neurological complication characterized by unprovoked seizure episodes due to the imbalance between excitatory and inhibitory neurons. The epileptogenesis process has been reported to be involved in chronic epilepsy however, the mechanism underlying epileptogenesis remains unclear. Recent studies have shown the possible involvement of Wnt/β-catenin signaling in the neurogenesis and neuronal reorganization in epileptogenesis. In this study, we used repeated low dose lithium-pilocarpine model of status epilepsy (SE) to study the involvement of Wnt/β-catenin signaling at acute and chronic stages post SE induction. The acute study ranged from day 0 to day 28 post SE induction and the chronic study ranged from day 0 to day 56 post SE induction. Several neurobehavioral parameters and seizure score and seizure frequency was analysed until the end of the study. The proteins involved in the regulation of Wnt/β-catenin signaling and downstream cascading were analysed using western blot and quantitative real-time PCR analysis. The Wnt/β-catenin pathway was found inactive in acute SE, while the same was found activated at the chronic stage. Our findings suggest that the activated Wnt/β-catenin signaling in chronic epilepsy might be the possible mechanism underlying epileptogenesis as indicated by increased neuronal count, increased synaptic density, astrogliosis and apoptosis in chronic epilepsy. These findings can help target the Wnt/β-catenin pathway differentially depending upon the type of epilepsy. The acute stage characterized by SE can be improved by targeting GSK-3β levels and the chronic stage characterized by temporal lobe epilepsy can be improved by targeting β-catenin and disheveled proteins.

Premature mortality risk in individuals with convulsive epilepsy: Results from a longitudinal, prospective, population-based study

ObjectiveTo assess premature mortality and identify associated risk factors among individuals with convulsive epilepsy in resource-poor settings using a longitudinal, prospective, population-based approach. MethodThe study recruited people with convulsive epilepsy who underwent assessment and management of epilepsy at primary healthcare centers in rural Northwest China, including newly diagnosed individuals and previously identified prevalent cases. All participants were confirmed to have epilepsy by neurologists according to strict criteria and were followed up monthly by primary care physicians. Demographic data and cause of death (COD) were obtained from death certificates or verbal autopsies conducted by neurologists, following the International Classification of Diseases, 10th Edition. The standardized mortality ratio (SMR) and proportionate mortality ratio (PMR) for each cause of death were estimated using the Cause-Of-Death Surveillance Dataset of China (2020). Survival analysis was used to identify risk factors associated with all-cause mortality and death directly due to epilepsy. ResultsDuring 5.9 years of follow-up with 40,947 person-years, there were 781 (11.2%) deaths among 6967 participants. The risk of premature death in people with convulsive epilepsy was 2.7-fold higher than that in the general population. Young participants had a significantly higher risk (standardized mortality ratio 26.5–52.5) of premature death. The proportionate mortality ratio was higher for cerebrovascular disease (15%), sudden unexpected death in epilepsy (SUDEP) (13.4%), cardiovascular disease (11.7%), status epilepsy (SE) (11.3%), and epilepsy-related accidents (14.0%) than other premature mortality cause of deaths. Additionally, the highest standardized proportional mortality ratio (SPMR) was observed from drowning in all cause of death (10.4, 95% confidence interval [CI]: 7.6–13.8), followed by burning (9.0, 95% CI: 3.7–18.9). Factors that increased the risk of all-cause mortality included male sex, late age of onset, short disease duration, high body mass index, monotherapy, and the frequency of generalized tonic-clonic seizures (GTCS). High frequency of generalized tonic-clonic seizures (> 3 attacks in the last year) was an independent risk factor for premature death directly due to epilepsy (including sudden unexpected death in epilepsy, status epilepsy, and epilepsy-related accidents), while early age of onset (≤ 14 years) and long duration of epilepsy (> 20 years) were independent risk factors for sudden unexpected death in epilepsy. In addition, short duration of epilepsy (≤ 20 years) was an independent risk factor for status epilepsy. ConclusionsThis study demonstrated that individuals with poorly controlled seizures are more likely to experience premature death, with most deaths being epilepsy-related and preventable. These findings underline the importance of effective seizure treatment and the potential impact on reducing premature mortality among people with convulsive epilepsy.

B-078 Prevelance of Autoimmune Factors in Patients with Seizures of Unknown Etiology in Western China

Abstract Objective To delineate the features of autoantibody in patients with seizure of unknown etiology in Western China and to analyze other potential risk factors of an epileptic seizure. Methods From January 2017 to June 2022, 639 patients with unexplained seizure were assessed retrospectively. Neuronal autoantibodies were assessed in 471 individuals, including 12 common neural-specific autoantibodies, antibodies against four common pathogens associated with central nervous system infections, or neurophagocytosis, and two thyroid-related autoantibodies. Results Sixty-nine patients were positive for neural-specific autoantibodies in CSF and serum. Among the patients, 32 (46.38%) expressed NMDAR-Ab, 14 (20.29%) expressed GABABR-Ab, 10 (14.49%) expressed LGI1-Ab, 7 (10.14%) expressed GFAP-Ab, 3 (4.34%) expressed Yo-Ab, 2 (2.90%) expressed CASP2-Ab, and 1 (1.45%) expressed Hu-Ab. Compared to patients with non-autoimmune epileptic seizure, the positive rates of thyroid-related antibody expression and the neurophagocytosis pathogen levels of HSV-IgG and T. gondii-IgG were significantly different in patients with autoimmune epileptic seizure. Conclusion This study elucidated the antibody status of autoimmune epilepsy in western China, allowing for better identification and diagnosis of autoimmune epilepsy in the future.

Quality of Life of Developmentally Normal Children With Epilepsy and Their Siblings.

Quality of life (QOL) is a fundamental and multidimensional concept that should be considered with health problems, specifically chronic diseases, such as epilepsy. There have been limited studies on how pediatric epilepsy impacts the QOL of siblings of affected individuals. Hence, we studied the impact of epilepsy on the QOL of affected children and their siblings. This study aimed to assess the QOL of developmentally normal children with epilepsy and their siblings and the association of QOL scores with the clinicodemographic profile. This study was conducted at the University College of Medical Sciences and Guru Tegh Bahadur Hospital, New Delhi, India, a tertiary care hospital. The QOL of children (4-12 years) with epilepsy was assessed using epilepsy-specific questionnaires, i.e., Quality of Life in Childhood Epilepsy Questionnaire-55 (QOLCE-55), which covers the cognitive, emotional, social, and physical domains, and Pediatric Quality of Life Epilepsy Module (Peds QL EM), which covers the impact, cognitive, sleep,executive, and mood/ behavior domains. QOL in siblings was assessed using the Peds QL Inventory, which covers the following domains: physical, emotional, social, and school. The principal investigator administered these questionnaires to parents in Hindi/ English. Scoring was done as per standard instructions of the questionnaire. Clinical and demographic data were recorded in a pro forma. The median QOLCE-55 score was 81.12, with a range of 74.65-86.34, and the median Peds QL EM score was 89.31, with a range of 75.58-94.48. Overall, Cronbach's alpha of QOLCE-55 and Peds QL EM was >0.8. Breakthrough seizures (≥10) affected the overall QOL (p=0.001)and all domains of QOLCE-55 (except emotional function (p=0.44)) and Peds QL EM (except sleep/fatigue domain (p=0.59)). Age, sex, parental education, socioeconomic status, and type of epilepsy did not affect the overall QOL (p>0.05). The QOL of siblings was not affected as per the Peds QL Inventory score (median score 100) and self-made questionnaire. Our results suggest that the QOL of children with epilepsy was compromised, whereas the QOL of their siblings was not affected.

Health-related quality of life and medication adherence of people living with epilepsy in Pakistan: A cross-sectional study.

The primary purpose of this study was to determine adherence and health-related quality of life (HRQoL) in PWE. Secondary aims were to assess association between adherence and HRQoL and determine predictors of HRQoL in PWE in Pakistan. A descriptive cross-sectional study was conducted among PWE receiving treatment from two tertiary care hospitals of Pakistan. The HRQoL and adherence were assessed with Urdu versions of Quality of Life in Epilepsy-31 (QOLIE-31), and Medication Adherence Rating Scale (MARS). Relationship between HRQoL and adherence was assessed by Pearson's product-moment correlation coefficient. Forced entry multiple linear models were used to determine relationship of independent variables with HRQoL. 219 PWE with a mean (±standard deviation) age, 34.18 (±13.710) years, participated in this study. The overall weighted mean HRQoL score was (51.60±17.10), and mean score for adherence was 6.17 (±2.31). There was significant association between adherence and HRQoL in PWE (Pearson's correlation=0.820-0.930; p≤.0001). Multiple linear regression found adherence (B=16.8; p≤.0001), male gender (B=10.0; p=.001), employment status (employed: B=7.50; p=.030), level of education (Tertiary: B=0.910; p=.010), duration of epilepsy (>10 years: B=-0.700; p≤.0001), and age (≥46 years: B=-0.680; p≤.0001), and ASM therapy (polypharmacy: B=0.430; p=.010) as independent predictors of HRQoL in PWE from Pakistan. The findings suggest PWE from our center have suboptimal adherence which affects HRQoL. Independent factors such as male gender, employment status and duration of epilepsy are predictors of HRQoL.

The Effect of the Age at Seizure Onset on Seizure Resistance in Tuberosclerosis Patients

Objective: To evaluate the clinical status of epilepsy, which is extremely widespread in tuberosclerosis patients and the findings and characteristics of a paediatric case series. Methods: The study included paediatric patients diagnosed with tuberosclerosis from clinical or genetic examination who were followed up between 2015 and 2022 in the Paediatric Neurology and Paediatric Genetics Clinics of Necmettin Erbakan University Meram Medical Faculty Hospital. A retrospective examination was made of the clinical characteristics of the patients, the electroencepahalography (EEG) reports, and radiological findings (magnetic resonance imaging [MRI], ultrasonography, echocardiography). The patients were separated into two groups of monotherapy and polytherapy according to the number of drugs used, and the groups were compared in respect of the time of onset of epilepsy. The patients were also categorised according to the presence of cortical tuber and subependymal nodule and these groups were compared in respect of the presence of epilepsy. Results: The 27 patients comprised 18 (66.6%) males and 9 (33.4%) females. Complaints on presentation were seizure and skin patches in 25 (92.5%) cases and only skin patches in 2 (7.5%). The most common finding determined on MRI was the combination of subependymal nodule and cortical tuber (51.8%). Autism spectrum disorder was present in 5 (18.5%) patients and mental retardation in 16 (59%). The age at onset of epilepsy was earlier in the polytherapy group [5±4.75 (1-18) months] than in the monotherapy group [8.0±16 (4-36) months] (p=0.032). The rates of presence of cortical tuber and subependymal nodule were similar in respect of the time of onset of epilepsy (p&gt;0.05). Conclusion: The early onset of epilepsy in tubersclerosis patients indicates that it may have a resistant course and there may be a need for polytherapy. There may also be accompanying neuropsychiatric retardation in these patients. The clinical status of epilepsy in tuberosclerosis was found to be similar in the cortical tuber and subependymal nodule groups.

Nodding syndrome, a case-control study in Mahenge, Tanzania: Onchocerca volvulus and not Mansonella perstans as a risk factor.

Nodding syndrome (NS) has been consistently associated with onchocerciasis. Nevertheless, a positive association between NS and a Mansonella perstans infection was found in South Sudan. We aimed to determine whether the latter parasite could be a risk factor for NS in Mahenge. Cases of epilepsy were identified in villages affected by NS in Mahenge, Tanzania, and matched with controls without epilepsy of the same sex, age and village. We examined blood films of cases and controls to identify M. perstans infections. The participants were also asked for sociodemographic and epilepsy information, examined for palpable onchocercal nodules and onchocerciasis-related skin lesions and tested for anti-Onchocerca volvulus antibodies (Ov16 IgG4) by ELISA. Clinical characteristics of cases and controls, O. volvulus exposure status and relevant sociodemographic variables were assessed by a conditional logistic regression model for NS and epilepsy status matched for age, sex and village. A total of 113 epilepsy cases and 132 controls were enrolled, of which, respectively, 56 (49.6%) and 64 (48.5%) were men. The median age in cases and controls was 28.0 (IQR: 22.0-35.0) and 27.0 (IQR: 21.0-33.3) years. Of the persons with epilepsy, 43 (38.1%) met the probable NS criteria and 106 (93.8%) had onchocerciasis-associated epilepsy (OAE). M. perstans infection was absent in all participants, while Ov16 seroprevalence was positively associated with probable NS (odds ratio (OR): 5.05, 95%CI: 1.79-14.27) and overall epilepsy (OR: 2.03, 95%CI: 1-07-3.86). Moreover, onchocerciasis-related skin manifestations were only found in the cases (n = 7, p = 0.0040), including persons with probable NS (n = 4, p = 0.0033). Residing longer in the village and having a family history of seizures were positively correlated with Ov16 status and made persons at higher odds for epilepsy, including probable NS. In contrast to O. volvulus, M. perstans is most likely not endemic to Mahenge and, therefore, cannot be a co-factor for NS in the area. Hence, this filaria is unlikely to be the primary and sole causal factor in the development of NS. The main risk factor for NS remains onchocerciasis.

SPECT and PET in nonlesional epilepsy

AbstractBackgroundPositron emission tomography (PET) and single-photon emission computed tomography (SPECT) are applied in epilepsy mostly during presurgical assessment. Nonlesional focal epilepsy is very challenging for presurgical evaluation in cases of refractory epilepsy.ObjectivesWe aimed to investigate the contribution of PET and SPECT to focus localization in nonlesional epilepsy.MethodsThe basic principles of SPECT and PET including different tracers were reviewed. The literature and the most recent publications are discussed in view of findings in nonlesional epilepsy.ResultsIctal SPECT shows a high sensitivity of over 80% for ictal onset zone in nonlesional epilepsy. Postprocessing with subtraction ictal SPECT co-registered with MRI (SISCOM) or statistical parametric mapping are the gold standard. Histopathological findings in nonlesional epilepsies with concordant ictal SPECT imaging show focal cortical dysplasia in up to 75% of cases. Ictal injection is unsuccessful in approximately 20% of cases and the procedure is very time consuming and labor intensive. Fluorodeoxyglucose (FDG)-PET in nonlesional epilepsy shows variable sensitivity of 46–76%. As with ictal SPECT, it benefits from postprocessing of co-registration with magnetic resonance imaging (MRI) or even statistical parametric mapping. Hybrid PET/magnetic resonance imaging (MRI) scanners provide additional benefits for identifying lesions. Other PET tracers (11C‑Flumazenil (FMZ), α-11C‑methyl-L-tryptophane (AMT)) are clinically applied in special cases only. Both procedures contribute complementary information in multimodal imaging diagnostics.ConclusionsIctal SPECT and PET are optional diagnostic tools for presurgical assessment in nonlesional epilepsies. They may reverse nonlesional to lesional epilepsy status and identify nonlesional epileptic foci with a fair chance of seizure freedom after epilepsy surgery.

Assessment of Cognitive Function with Sleep Spindle Characteristics in Adults with Epilepsy.

Epilepsy may cause chronic cognitive impairment by disturbing sleep plasticity. Sleep spindles play a crucial role in sleep maintenance and brain plasticity. This study explored the relationship between cognition and spindle characteristics in adult epilepsy. Participants underwent one-night sleep electroencephalogram recording and neuropsychological tests on the same day. Spindle characteristics during N2 sleep were extracted using a learning-based system for sleep staging and an automated spindle detection algorithm. We investigated the difference between cognitive subgroups in spindle characteristics. Multiple linear regressions were applied to analyze associations between cognition and spindle characteristics. Compared with no/mild cognitive impairment, epilepsy patients who developed severe cognitive impairment had lower sleep spindle density, the differences mainly distributed in central, occipital, parietal, middle temporal, and posterior temporal (P < 0.05), and had relatively long spindle duration in occipital and posterior temporal (P < 0.05). Mini-Mental State Examination (MMSE) was associated with spindle density (pars triangularis of the inferior frontal gyrus (IFGtri): β = 0.253, P = 0.015, and P.adjust = 0.074) and spindle duration (IFGtri: β = -0.262, P = 0.004, and P.adjust = 0.030). Montreal Cognitive Assessment (MoCA) was associated with spindle duration (IFGtri: β = -0.246, P = 0.010, and P.adjust = 0.055). Executive Index Score (MoCA-EIS) was associated with spindle density (IFGtri: β = 0.238, P = 0.019, and P.adjust = 0.087; parietal: β = 0.227, P = 0.017, and P.adjust = 0.082) and spindle duration (parietal: β = -0.230, P = 0.013, and P.adjust = 0.065). Attention Index Score (MoCA-AIS) was associated with spindle duration (IFGtri: β = -0.233, P = 0.017, and P.adjust = 0.081). The findings suggested that the altered spindle activity in epilepsy with severe cognitive impairment, the associations between the global cognitive status of adult epilepsy and spindle characteristics, and specific cognitive domains may relate to spindle characteristics in particular brain regions.