Febrile Seizures Research Articles

Adverse events following Measles-Mumps-Rubella and varicella immunization: A safety profile analysis and comparison of different vaccination schedules based on the Italian Pharmacovigilance Network in the Veneto Region

ObjectiveThe vaccines for measles, mumps, rubella and varicella (MMR and V) have been mandatory in Italy since 2017. Two different vaccination strategies are suggested for the first dose: trivalent MMR and a separate V vaccine or the tetravalent MMRV vaccine. Our aim is to compare the safety profile of MMRV and MMR-V vaccines through the passive adverse event reporting system in the Veneto region and to perform a case-by-case review of a few conditions of interest (febrile and afebrile seizures, ataxia, encephalitis, Guillain-Barré Syndrome, thrombocytopenia, neutropenia and Henoch-Schönlein Purpura). Age and sex differences were also explored. MethodsWe identified all reports following MMRV or MMR-V vaccination in the Veneto Region and received into the National Pharmacovigilance Network between 2007 and April 30, 2022. Results9,510 reports were retrieved, of which 5,662 (59.5 %) were related to MMRV and 3,848 (40.5 %) to MMR-V. No safety signals were detected supporting the evidence that MMRV and MMR-V vaccinations have a good safety profile. The reporting rate (RR) for serious events between 2007 and 2022 resulted in 13.67 per 10,000 administered doses for MMRV and 10.90 for MMR-V. ConclusionPassive surveillance data show a significantly higher rate of serious events for males 0–2 years old, both overall and stratified per vaccination strategy. Further studies are needed to confirm this observation. The analyses suggest that retrieved differences do not have a significant impact on the overall safety of both formulations.

The Role of Phase-Contrast MRI in Diagnosing Cerebrospinal Fluid Flow Abnormalities.

Background Cerebrospinal fluid (CSF) dynamics play a crucial role in maintaining the homeostasis of the central nervous system (CNS). Any disruption in CSF flow can lead to various congenital and acquired conditions, impacting neurological function and overall health. This study aims to analyze the significance of phase-contrast MRI in evaluating abnormalities in CSF flow and its diagnostic utility in various CSF-related disorders. Phase contrast MRIhas emerged as a valuable tool for evaluating CSF dynamics non-invasively by examining CSF flow characteristics such as pulsatile flow patterns, hyperdynamic or hypodynamic flow, and disruptions in CSF circulation. Alterations in CSF pulsatility and stroke volume can indicate changes in intracranial compliance, vascular resistance, or CSF production and absorption rates. The findings of this study will advance our understanding of CSF physiology and its relevance in neurological pathologies, potentially leading to improved patient outcomes and management approaches. Materials and methods The study involved 36 patients and was conducted as an observational, prospective study over 18 months (October 2020 to March 2022) at the Department of Radiology, Saveetha Medical College and Hospital, Chennai. We utilized a 1.5 T Philips Multiva MRI scanner by Philips Healthcare in Amsterdam, Netherlands.The study included patients with suspected CSF flow abnormalities and abnormal MRI findings (normal pressure hydrocephalus (NPH), age-related brain atrophy, aqueduct stenosis (AS), Chiari malformation type 1, syringomyelia, or arachnoid cyst), alongside control exhibiting normal neurological symptoms and MRI results. Exclusions involved individuals with febrile seizures, neurological diseases, cerebrovascular accidents, anti-convulsive medication use, cardiac arrhythmia, or MRI contraindications. Post-processing involved analyzing stroke volume (SV), peak systolic velocity (PSV), end diastolic velocity (EDV), and mean flux. Statistical analysis was conducted using the StatisticalPackage for the Social Sciences (IBMSPSSStatisticsforWindows,IBMCorp., Version 24.0, Armonk,NY), employing the χ2-test for categorical variables and nonparametric tests like Mann-Whitney U and Kruskal-Wallis H-tests for quantitative variables. A p-value < 0.05 was considered significant. Results The 36 patients, aged 1 to 80 years, were referred by the neurology department and categorized into four subgroups based on clinical history and conventional MRI findings: NPH, AS, age-related brain atrophy, and a normal control group. MRI CSF flowmetry evaluation focused on PSV, PDV, and SV. We found peak diastolic velocity (PDV), PSV, and average blood velocity (ABV) to be significantly higher in NPH compared to the control group (PSV, EDV, and SV: 9.96 +/- 1.73, 4.72 +/- 0.62, and 63 +/- 12.88 for NPH versus 4.8 +/- 0.39, 3.21 +/- 0.55, and 20.72 +/- 5.7 for control, respectively; p = 0.000). Conversely, patients with age-related brain atrophy and AS exhibited lower values (1.6 +/- 0.44, 1.13 +/- 0.09, and 6.33 +/- 2.08 for AS, and 2.07 +/- 0.09, 1.62 +/- 0.33, and 6.8 +/- 2.16 for age-related brain atrophy versus control; p = 0.002). Conclusion MRI CSF flowmetry emerges as a rapid, accurate, and non-invasive diagnostic tool for various neurological disorders associated with abnormal CSF flow. Additionally, this technique may aid in selecting appropriate treatment strategies.

Clinical profile, etiological factors and outcome of children with status epilepticus admitted in tertiary hospital: a prospective study

Background: Status epilepticus (SE) is a medical emergency, and its neurological outcome is a concern to every pediatrician in developing countries. The incidence of convulsive SE in children is approximately 10–27/100,000 per year, with the highest incidence in children less than one year of age. Approximately 30% of patients presenting with status epilepticus are having their first seizure. The objective of the study is to evaluate the clinical and etiological pattern of SE and its outcome in children admitted to PICU. Methods: This was a prospective study conducted among 50 patients aged 1 month to 12 years presenting with status epilepticus. The study was conducted over a period of one year from April 2022 to April 2023. Results: A majority of the patients were in the age group of 1-5 years (64%) and higher incidence of male children was observed (74%). Generalized tonic clonic seizure (GTCS) was predominant in 76% of the children and seizure duration was 10-20 minutes in 44% of the children. The most common etiologies were Meningoencephalitis (44%) and febrile seizures (20%). Nearly 70% of the children showed complete recovery with no neurological symptoms and 5 (10%) children died. Conclusions: Status epilepticus is a life-threatening emergency and timely management is essential to prevent morbidity and mortality. CNS infection is a major etiology and majority of the children showed good response with AED treatment.

Xiaoer niuhuang qingxin powder alleviates influenza a virus infection by inhibiting the activation of the TLR4/MyD88/NF-κB signaling pathway

Ethnopharmacological relevanceXiaoer Niuhuang Qingxin Powder (XNQP) is a classic traditional Chinese medicine formula with significant clinical efficacy for treating febrile convulsions and influenza. Aim of the studyThis study aims to explore the potential mechanisms of XNQP in combating combating the influenza A virus, providing a theoretical basis for its clinical application. Materials and methodsThe present investigation employed network pharmacology and bioinformatics analysis to determine the TLR4/MyD88/NF-κB signaling pathway as a viable target for XNQP intervention in IAV infection.Subsequently, a mouse model of influenza A virus infection was established, and different doses of XNQP were used for intervention. The protein expression levels of TLR4/MyD88/NF-κB were detected using HE staining, Elisa, immunohistochemistry, immunofluorescence, and western blot. ResultsThe results showed that treatment with XNQP after IAV infection reduced the mortality and prolonged the survival time of infected mice. It reduced the release of TNF-α and IFN-γ in the serum and alleviated pathological damage in the lung tissue following infection. Additionally, the levels of TLR4, MyD88, NF-κB, and p–NF–κB P65 proteins were significantly reduced in lung tissue by XNQP. The inhibitory effect of XNQP on the expression of MyD88 and NF-κB was antagonized when TLR4 signaling was overexpressed. Consequently, the expression levels of MyD88, NF-κB, and p–NF–κB P65 were increased in lung tissue. Conversely, the expression levels of the proteins MyD88, NF-κB, and p–NF–κB P65 were downregulated when TLR4 signaling was inhibited. ConclusionsXNQP alleviated lung pathological changes, reduced serum levels of inflammatory factors, reduced mortality, and prolonged survival time in mice by inhibiting the overexpression of the TLR4/MyD88/NF-κB signaling pathway in lung tissues after IAV infection.

“A Study to Assess the Effectiveness of Educational Package On Knowledge Regarding Prevention and Management of Febrile Seizure Among the mother of Children Admitted in Shri Vinoba Bhave Civil Hospital, Silvassa, DNH.”

Background: Febrile seizure is condition that, occurring in children associated with fever. Febrile seizures are the most common seizures in children younger than 5 years. They are defined as a seizure accompanied by a fever of at least 100.4°F (38°C) without central nervous system infection. However, the misconception and poor knowledge of this condition could result in certain harmful home management of the condition. children within the age for febrile seizure spend most of their daytime hours with their mothers, this implies that a seizure of child may likely be first attended to by the mother, thus adequate knowledge by the mothers is important. Aim: This study aimed to assess the effectiveness of educational package on the level of knowledge among mother of children with febrile seizure. Methodology: A Quasi experimental design used to assess the effectiveness of educational package regarding prevention and management of febrile seizure. Non-probability convenience sampling technique was adopted to select 60 samples which was equally divided into control (30) and experimental (30) group. Pretest was conducted to both groups followed by implementation of educational package to experimental group along with routine nursing care and only routine nursing care to control group. Level of knowledge was assessed after 5 days. Result: The analysis of the study reveals that the majority of samples belonged to the age of the mother (16) (53.3%) between 20 and 30 years in the experimental group. The majority of samples from the experiment belong to middle education (43.3%). In both groups, the majority of samples were housewives (63.3%). Regarding religion, Hindu belong to 24 (80%) of the sample. The monthly income ratios for families range from 10,000 to 15,000/- (50%). In the experimental group, the age of the child is 1-3 years (46.7%). In the experimental group, the pretest and posttest levels of knowledge mean score with standard deviation were 3.27±2.83, 14.4±2.42. In the control group, the pretest and posttest mean score with standard deviation were 3.13±2.89, 23±2.85. The obtained t-value of experimental and control group of posttest knowledge scores was t- 16.37, at p &lt; 0.001, which were highly significant at the 0.05 level of significance. Age of mother and religion were associated with knowledge scores of mothers at 0.05 level of significance. Conclusion: The result showed that there was a significant increase in the level of knowledge among the mothers in the experimental group after the administration of the educational package intervention. Key words: febrile seizure, educational package, level of knowledge

Predicting factors for acute encephalopathy in febrile seizure children with SARS-CoV-2 omicron variant: a retrospective study

BackgroundSARS-CoV-2 posed a threat to children during the early phase of Omicron wave because many patients presented with febrile seizures. The study aimed to investigate predicting factors for acute encephalopathy of children infected by SARS-CoV-2 Omicron variant presenting with febrile seizures.MethodsThe retrospective study analyzed data from pediatric patients who visited the emergency department of Chang Gung Memorial Hospital in Taiwan between April and July 2022. We specifically focused on children with COVID-19 who presented with febrile seizures, collecting demographic, clinical, and laboratory data at the pediatric emergency department, as well as final discharge diagnoses. Subsequently, we conducted a comparative analysis of the clinical and laboratory characteristics between patients diagnosed with acute encephalopathy and those with other causes of febrile seizures.ResultsOverall, 10,878 children were included, of which 260 patients presented with febrile seizures. Among them, 116 individuals tested positive for SARS-CoV-2 and of them, 14 subsequently developed acute encephalopathy (12%). Those with acute encephalopathy displayed distinctive features, including older age (5.1 vs. 2.6 years old), longer fever duration preceding the first seizure (1.6 vs. 0.9 days), cluster seizure (50% vs. 16.7%), status epilepticus (50% vs. 13.7%) and occurrences of bradycardia (26.8% vs. 0%) and hypotension (14.3% vs. 0%) in the encephalopathy group. Besides, the laboratory findings in the encephalopathy group are characterized by hyperglycemia (mean (95% CI) 146 mg/dL (95% CI 109–157) vs. 108 mg/dL (95% CI 103–114) and metabolic acidosis (mean (95% CI) pH 7.29(95% CI 7.22–7.36) vs. 7.39 (95%CI 7.37–7.41)).ConclusionsIn pediatric patients with COVID-19-related febrile seizures, the occurrence of seizures beyond the first day of fever, bradycardia, clustered seizures, status epilepticus, hyperglycemia, and metabolic acidosis should raise concerns about acute encephalitis/encephalopathy. However, the highest body temperature and the severity of leukocytosis or C-reactive protein levels were not associated with poor outcomes.

Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency

Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed. Results: All of the 6 cases were male, with onset ages ranging from 1 month to 1 year and 4 months. All of the 6 cases had cognitive and motor developmental delay, with 3 cases starting with developmental delay, 3 cases starting with convulsions and later experiencing developmental arrest or even regression. All of 6 cases had epilepsy, in whom 2 cases with severe microcephaly developed epileptic encephalopathy in the early stages of infancy with spasms as the main form of convulsions, 4 cases with mild or no microcephaly gradually evolved into convulsions with no fever after multiple febrile convulsions with focal seizures, tonic clonic seizures and tonic seizure as the main forms of convulsions. Three cases of 4 gradually developed into stagnation or even regression of development and ataxia after multiple convulsions with no fever. There were normal cranial imaging in 2 cases, dysplasia of the brains in 1 cases, frontal lobe apex accompanied by abnormal white matter signal in the frontal lobe and thin corpus callosum in 1 case, thin corpus callosum and abnormal lateral ventricular morphology in 1 case, and normal in early stage, but gradually developing into cerebellar atrophy at the age of 5 years and 9 months in 1 case. Two cases underwent visual evoked potential tests, the results of which were both abnormal. Three cases underwent auditory evoked potential examination, with 1 being normal and 2 being abnormal. All of 6 cases had variations in the asparagine synthase gene, with 2 deletion variations and 7 missense variations. The variations of 2 cases had not been reported so far, including c.1341_1343del and c.1283A>G, c.1165_1167del and c.1075G>A. The follow-up time ranged from 3 months to 53 months. Two cases who had severe microcephaly died in infancy, while the other 4 cases with mild or no microcephaly were in survival states until the follow-up days but the control of epilepsy was poor. Conclusions: Asparagine synthase deficiency has a certain degree of heterogeneity in clinical phenotype. Children with obvious microcephaly often present as severe cases, while children with mild or no microcephaly have relatively mild clinical manifestations. The variation of asparagine synthetase gene is mainly missense variation.

Associative Patterns Between Iron Deficiency Anemia and Febrile Seizures in the Five to 60 Months Age Group: A Comprehensive Systematic Review.

Febrile seizures (FS) are commonly seen in younger age groups. The cause of seizures is multifactorial, including viral illnesses, certain vaccines such as MMR (measles, mumps, rubella), family history of FS, and certain mineral deficiencies like zinc. Iron deficiency anemia (IDA) is the most common cause of anemia in children of the same age group. The systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. This review aimed to investigate the correlation between IDA and fever convulsions. A systematic literature search was conducted using PubMed and Google Scholar databases for studies published between January 2013 and September 2023. The following keywords were used to search the articles: "children", "febrile seizures", and "iron deficiency anemia", using all possible combinations and using the word "and" between them. Following the inclusion and exclusion criteria application, we included 23 case-control studies written in the English language in this study. Quality assessment of studies was done using the Newcastle Ottawa Scale.

Neurofilament Light Chain Concentration in Cerebrospinal Fluid in Children with Acute Nontraumatic Neurological Disorders.

(1) Introduction: This pilot study aimed to analyze neurofilament light chain levels in cerebrospinal fluid (cNfL) in a cohort of children with different acute nontraumatic neurological conditions. (2) Methods: This prospective observational cohort study consisted of 35 children aged 3 months to 17 years and was performed from November 2017 to December 2019. Patients' clinical data were reviewed, and patients were assigned to the following groups: n = 10 (28.6%) meningitis, 5 (14.3%) Bell's palsy, 7 (20.0%) febrile non-CNS infection, 3 (8.6%) complex febrile seizure, 4 (11.4%) idiopathic intracranial hypertension, and 6 (17.1%) others. cNfL levels were measured using a sensitive single-molecule array assay. (3) Results: The cNfL levels [median (range)] in children with meningitis were 120.5 pg/mL (58.1-205.4), in Bell's palsy 88.6 pg/mL (48.8-144.5), in febrile non-CNS infection 103.9 pg/mL (60.1-210.8), in complex febrile seizure 56 pg/mL (53.2-58.3), and in idiopathic intracranial hypertension 97.1 pg/mL (60.1-124.6). Within the meningitis group, children with Lyme neuroborreliosis (LNB) had significantly higher cNfL concentrations (median 147.9 pg/mL; range 87.8-205.4 pg/mL) than children with enterovirus meningitis (72.5 pg/mL; 58.1-95.6 pg/mL; p = 0.048) and non-significantly higher cNfL levels when compared to Bell's palsy (88.6 pg/mL; 48.8-144.5 pg/mL; p = 0.082). There was no correlation between cNfL levels and age. (4) Conclusions: Although the number of patients in this pilot study cohort is limited, higher cNfL levels in children with LNB compared to those with viral meningitis (significant) and Bell's palsy (trend) may indicate the potential of cNfL as a biomarker in the differential diagnosis of pediatric meningitis and facial palsy.

Characteristics and Risk Factors of Central Nervous System Infection in Children With Febrile Seizures.

The aim of the present study is to evaluate the necessity of performing lumbar puncture in patients experiencing febrile seizures, considering the epidemiology specific to Brazil. A retrospective cross-sectional study was performed from January 2017 to December 2021. A total of 469 children with seizure and fever were analyzed. The identified event was the first in 65.9% (n = 309). A total of 54.2% (n = 254) of patients had a simple febrile seizure. Infectious focus, excluding previous central nervous system (CNS) infection, was identified in 35.6% (n = 167) patients. Meningitis was identified in 7.7% (n = 36) patients, all of them were viral. Patients with CNS infection had a higher frequency of symptoms such as nausea and vomiting, drowsiness, headache, and higher level of leukocytosis. A longer duration of fever was found to be more strongly associated with CNS infection. When considering the use of lumbar puncture in febrile seizure, it is important to conduct a comprehensive evaluation that considers multiple factors, including clinical signs, symptoms, and the overall clinical context. Meningeal signs may be less prominent, and other symptoms such as lethargy, irritability, and vomiting may serve as more reliable indicators. Although clinical examination suggestive of meningitis remains an important factor, the recurrence of febrile seizures and a longer length of fever can provide additional insights and aid in decision-making regarding lumbar puncture.

Signatures of neurological adverse events after vaccination

There have been reports associated with the development of neurological adverse events (AEs) post-vaccination. Here, we retrospectively examine the Vaccine Adverse Events Reporting System (VAERS) database for neurological AEs reported following vaccination. Since VAERS is a passive reporting system, to minimize reporting bias and to reduce background events, this retrospective study examines both age-stratified AE reports made with onset within 24 h of immunization, and age-stratified AE reports regardless of timeframe from immunization. Immediate temporal onset data patterns for febrile convulsion, seizure, and syncope AEs were observed for multiple vaccines. For age-stratified AEs in infants up to 3 years of age, the following patterns of high association were observed: (i) Aphasia, autism spectrum disorder, and speech disorder were found to be highly associated with the measles, mumps, and rubella and hepatitis B (HepB) vaccines; (ii) febrile convulsion and syncope were found to be highly associated with the meningococcal group B vaccine; and (iii) seizures were found to be highly associated with diphtheria and tetanus toxoids and whole-cell pertussis (DTP) vaccines.

Analysis of related factors for neuropsychiatric comorbidities in children with epilepsy

ObjectiveTo analyze the risk factors affecting psychiatric behavior and study the psychobehavioral conditions of children with epilepsy.MethodWe randomly selected and enrolled 294 children with epilepsy who visited and were hospitalized in the pediatric clinic of Hebei General Hospital between January 2017 and January 2022, as the study participants. We comprehensively assessed their cognitive functions using the Gesell development schedule or Wechsler Intelligence Scales. The participants were divided into the study group (n = 123) with cognitive impairment and the control group (n = 171) with normal cognitive functions, for analysis.ResultsThere were statistically significant differences between the two groups in disease course, frequency of epilepsy, status epilepticus, and the number of antiseizure medications (ASMs) used (P < 0.05), while there were no statistically significant differences in age, gender, age of onset, form of onset, interictal epileptiform discharge, history of febrile convulsion, and the time from onset to initial visit (P > 0.05). Based on multivariate logistic regression analysis, the course of disease, frequency of onset, status epilepticus and number of ASMs used were identified as high-risk factors for cognitive impairment in children with epilepsy. Similarly, early onset, long course of disease, known etiology, and combination of multiple drugs have a negative impact on behavioral problems, school education, and social adaptability.ConclusionThe course of disease, the frequency of onset, status epilepticus, and the number of ASMs used are high-risk factors for cognitive impairment in children with epilepsy, which can be prevented and controlled early. When selecting ASMs, their advantages and disadvantages should be weighed. Moreover, the availability of alternative treatment options must be considered. With the help of genomic technology, the causes of epilepsy should be identified as early as possible, and precision medicine and gene therapy for children with epilepsy should be actively developed.

Ascorbic acid mitigates the impact of oxidative stress in a human model of febrile seizure and mesial temporal lobe epilepsy

Prolonged febrile seizures (FS) in children are linked to the development of temporal lobe epilepsy (MTLE). The association between these two pathologies may be ascribed to the long-term effects that FS exert on neural stem cells, negatively affecting the generation of new neurons. Among the insults associated with FS, oxidative stress is noteworthy. Here, we investigated the consequences of exposure to hydrogen peroxide (H2O2) in an induced pluripotent stem cell-derived neural stem cells (iNSCs) model of a patient affected by FS and MTLE. In our study, we compare the findings from the MTLE patient with those derived from iNSCs of a sibling exhibiting a milder phenotype defined only by FS, as well as a healthy individual. In response to H2O2 treatment, iNSCs derived from MTLE patients demonstrated an elevated production of reactive oxygen species and increased apoptosis, despite the higher expression levels of antioxidant genes and proteins compared to other cell lines analysed. Among the potential causative mechanisms of enhanced vulnerability of MTLE patient iNSCs to oxidative stress, we found that these cells express low levels of the heat shock protein HSPB1 and of the autophagy adaptor SQSTM1/p62. Pre-treatment of diseased iNSCs with the antioxidant molecule ascorbic acid restored HSBP1 and p62 expression and simultaneously reduced the levels of ROS and apoptosis. Our findings suggest the potential for rescuing the impaired oxidative stress response in diseased iNSCs through antioxidant treatment, offering a promising mechanism to prevent FS degeneration in MTLE.

Non-dravet syndrome epilepsy in 4 polish patients with SCN1A de novo mutations

Background: The spectrum of neurological disorders associated with mutations in SCN1A, which encodes the type 1 subunit of the neuronal voltage-gated sodium channel, is broad and can manifest as both epileptic (a heterogeneous group of epileptic syndromes) and non-epileptic conditions. Dravet syndrome (DRVT) and Genetic Epilepsy with Febrile Seizures plus (GEFS+) are the most frequent. However, there exist less common phenotypes with varying severity of clinical course that authors would like to highlight.

Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene

To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+). Three GEFS+ probands and their pedigree members presented at the Children's Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants. Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c.1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c.2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c.1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+PM2_Supporting+PP1+PP3+PP4). The c.1613T>C, c.2804A>G and c.1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.

The protective effect of breastfeeding on febrile seizures: a systematic review with meta-analysis.

Several potential risk factors have been identified in the etiopathogenesis of febrile seizures (FS), including the type and extent of breastfeeding (BF). Given the lack of conclusive data, this study aims to systematically evaluate the evidence on the association between BF and FS. We conducted a systematic review and meta-analysis according to PRISMA guidelines. The search was conducted using descriptors for FS, BF, and formula feeding in MEDLINE, Embase, and Web of Science databases. We included observational studies that compared the incidence of FS between those who had ever breastfed and those who were formula fed. The study protocol was registered on the PROSPERO platform under the number CRD42023474906. A total of 1,893,079 participants from 8 datasets were included. Our main analysis showed no significant association of any type of BF on the incidence of FS compared with formula-fed children (OR: 0.84; CI: 0.67-1.04; I2 = 78%; Cochran's Q = 0.0001), although meta-regression showed that BF was associated with a lower incidence of FS in preterm infants. Our secondary outcome showed a significantly reduced incidence of FS in children who received BF exclusively (OR: 0.80; CI: 0.65-0.99; I2 = 70%; Cochran's Q = 0.02). Conclusion: There was no significant reduction in the incidence of FS in those who were breastfed compared to formula feeding. However, our meta-regression analysis indicated an association between BF and a lower incidence of FS in preterm infants. Additionally, children who exclusively received BF had a significantly reduced incidence of FS. These findings should be further investigated in prospective cohorts. What is Known: • Breastfeeding can modify risk factors for febrile seizures, such as susceptibility to viral and bacterial infections, micronutrient deficiencies, and low birth weight. •However, studies have shown conflicting results regarding the impact of breastfeeding on febrile seizures. What is New: •When comparing any breastfeeding pattern with no breastfeeding, there is no significant difference in the incidence of febrile seizures. •When comparing exclusive breastfeeding with no breastfeeding, there may be a decrease in the occurrence of febrile seizures.

Clinical and laboratory parameters associated with febrile seizure recurrence within the first 24 h: a ten-year cohort study.

We assessed clinical and laboratory parameters associated with early recurrence of febrile seizure in patients presenting at the Emergency Department with a first episode. Case series of patients admitted to the emergency department with the first episode of febrile seizure for ten consecutive years. Exclusion criteria were focal features and prolonged duration (>15 min). We included 693 patients, 284 (41%) female. Median age of 20 (IQR 15-27) months. Fifty-two (8%) patients had a recurrence within 24 h. At univariate analysis, patients with recurrent seizures had higher use of antipyretics (88% vs. 74%, P = 0.03, OR 2.6, 95% CI: 1.1-7.7), higher median maximal body temperature (39.3 °C, IQR 38.9-39.9, vs. 38.9, IQR 38.4-39.3, P < 0.001, OR 2.3, 95% CI: 1.5-2.6) and presented with a lower proportion of respiratory tract infections (54% vs. 70%, P = 0.02) compared to patients without recurrence. A maximal body temperature equal to or higher than 39 °C was associated with a higher recurrence (11% vs. 4%, P < 0.001, OR 2.9, 95% CI: 1.6-5.6). Hyponatremia was not associated with a risk of recurrence. The multivariate analysis confirmed a direct association with body temperature (OR 2.3, 95% CI: 1.5-3.7, P < 0.001), and an inverse association with respiratory tract infections (OR 0.4, 95% CI: 0.2-0.9, P = 0.01), while antipyretic use was not correlated (OR 1.9, 95% CI: 0.8-5.2, P = 0.2). High body temperature and respiratory tract infections were (directly and inversely) associated with recurrences. Consideration of these conditions might help for anticipating the probability of recurrence.

Neurological manifestations and risk factors associated with poor prognosis in hospitalized children with Omicron variant infection.

There are increasing reports of neurological manifestation in children with coronavirus disease 2019 (COVID-19). However, the frequency and clinical outcomes of in hospitalized children infected with the Omicron variant are unknown. The aim of this study was to describe the clinical characteristics, neurological manifestations, and risk factor associated with poor prognosis of hospitalized children suffering from COVID-19 due to the Omicron variant. Participants included children older than 28days and younger than 18years. Patients were recruited from December 10, 2022 through January 5, 2023. They were followed up for 30days. A total of 509 pediatric patients hospitalized with the Omicron variant infection were recruited into the study. Among them, 167 (32.81%) patients had neurological manifestations. The most common manifestations were febrile convulsions (n = 90, 53.89%), viral encephalitis (n = 34, 20.36%), epilepsy (n = 23, 13.77%), hypoxic-ischemic encephalopathy (n = 9, 5.39%), and acute necrotizing encephalopathy (n = 6, 3.59%). At discharge, 92.81% of patients had a good prognosis according to the Glasgow Outcome Scale (scores ≥ 4). However, 7.19% had a poor prognosis. Eight patients died during the follow-up period with a cumulative 30-day mortality rate of 4.8% (95% confidence interval (CI) 1.5-8.1). Multivariate analysis revealed that albumin (odds ratio 0.711, 95% CI 0.556-0.910) and creatine kinase MB (CK-MB) levels (odds ratio 1.033, 95% CI 1.004-1.063) were independent risk factors of poor prognosis due to neurological manifestations. The area under the curve for the prediction of poor prognosis with albumin and CK-MB was 0.915 (95%CI 0.799-1.000), indicating that these factors can accurately predict a poor prognosis. Conclusion: In this study, 32.8% of hospitalized children suffering from COVID-19 due to the Omicron variant infection experienced neurological manifestations. Baseline albumin and CK-MB levels could accurately predict poor prognosis in this patient population. What is Known: • Neurological injury has been reported in SARS-CoV-2 infection; compared with other strains, the Omicron strain is more likely to cause neurological manifestations in adults. • Neurologic injury in adults such as cerebral hemorrhage and epilepsy has been reported in patients with Omicron variant infection. What is New: • One-third hospitalized children with Omicron infection experience neurological manifestations, including central nervous system manifestations and peripheral nervous system manifestations. • Albumin and CK-MB combined can accurately predict poor prognosis (AUC 0.915), and the 30-day mortality rate of children with Omicron variant infection and neurological manifestations was 4.8%.

Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study

Genetic factors contribute to the aetiology of epilepsy in >50% of cases, and information on the use of antiseizure medications in people with specific aetiologies will help guide treatment decisions. The PERMIT Extension study pooled data from two real-world studies (PERMIT and PROVE) to investigate the effectiveness and safety/tolerability of perampanel (PER) when used to treat people with focal and generalised epilepsy in everyday clinical practice. This post-hoc analysis of PERMIT Extension explored the use of PER when used to treat individuals presumed to have epilepsy with a genetic aetiology. Assessments included retention rate (evaluated at 3, 6 and 12 months), effectiveness (responder and seizure freedom rates; evaluated at 3, 6, 12 months and the last visit [last observation carried forward) and tolerability (adverse events [AEs]). Of the 6822 people with epilepsy included in PERMIT Extension, 1012 were presumed to have a genetic aetiology. The most common genetic aetiologies were idiopathic generalised epilepsy (IGE; 58.2%), tuberous sclerosis (1.1%), Dravet syndrome (0.8%) and genetic epilepsy with febrile seizures plus (GEFS+; 0.5%). Retention rates at 3, 6 and 12 months in the total genetic aetiology population were 89.3%, 79.7% and 65.9%, respectively. In the total genetic aetiology population, responder rates at 12 months and the last visit were 74.8% and 68.3%, respectively, and corresponding seizure freedom rates were 48.9% and 46.5%, respectively. For the specific aetiology subgroups, responder rates at 12 months and the last visit were, respectively: 90.4% and 84.4% (IGE), 100% and 57.1% (tuberous sclerosis), 100% and 71.4% (Dravet syndrome), and 33.3% and 20.0% (GEFS+). Corresponding seizure freedom rates were, respectively: 73.1% and 64.6% (IGE), 33.3% and 22.2% (tuberous sclerosis), 20.0% and 28.6% (Dravet syndrome), and 0% and 0% (GEFS+). The incidence of AEs was 46.5% for the total genetic aetiology population, 48.8% for IGE, 27.3% for tuberous sclerosis, 62.5% for Dravet syndrome, and 20% for GEFS+. Tolerability findings were consistent with PER’s known safety profile. PER was effective and generally well tolerated when used in individuals with a presumed genetic epilepsy aetiology in clinical practice. PER was effective across a wide range of genetic aetiologies.

Parents' Knowledge and Management of Fever: "Parents Versus Fever!"

Parents' lack of knowledge about fever causes fear and incorrect practices. This study aims to investigate the fever knowledge level, concerns, and practices of parents of preschool children. In this descriptive, cross-sectional study, conducted between July 2021 and July 2022, a survey was conducted among parents of children aged 6 months to 5 years who did not have a history of febrile seizure and/or chronic disease, either in themselves or their siblings. A total of 386 parents, with a mean age of 33.6 ± 6.38 years and a mean number of children of 1.85 ± 0.9, participated in the study. Approximately one-third of parents started giving antipyretics to their child before the body temperature reached 38°C (32.4%) and/or used them alternately (34.5%). Moreover, approximately two-thirds (67.1%) tended to seek medical help within the first 12 hours. Parents who could not define fever correctly (66.6%) were more likely to start giving antipyretics before the child's body temperature reached 38°C [odds ratio (OR) 2.83 (1.70-4.71), P .001] and seek medical help within the first 12 hours [OR 1.81 (1.16-2.82), P = .008]. As the number of children or length of parenting increased, parents started giving antipyretics before the body temperature reached 38°C [OR 1.61 (1.26-2.06), P < .001; OR 1.04 (1.01-1.08), P = .048] and used them alternately [OR 1.07 (1.03-1.11), P = .001; OR 1.28 (1.02-1.62), P = .031]. This study demonstrates that a substantial proportion of parents still cannot define fever correctly, and inappropriate antipyretic use is more prevalent among experienced parents with multiple children and/or longer lengths of parenting.