Febrile Seizures Research Articles

Human herpesvirus 6 as the underestimated causative agent of seizure disorders in febrile children

Introduction and objective: The aim of the study was to analyse the clinical symptoms and laboratory abnormalities of seizure disorders in febrile children infected with pathogens from the Herpesviridae family – human herpesvirus 6 (HHV-6), human cytomegalovirus (HCMV), and Epstein–Barr virus (EBV). Materials and methods: A total of 75 children were included in the study, including 64 patients after a febrile seizure and 11 patients after an epileptic seizure triggered by infection. The control group consisted of 36 children with developmental delay. Routine inflammatory markers were analysed including C-reactive protein (CRP), procalcitonin (PCT), erythrocyte sedimentation rate (ESR), and white blood count (WBC). Pathogens were detected using standard diagnostic methods. Results: Compared to control group, median CRP and PCT were significantly higher in children with all types of febrile seizures, and ESR was significantly higher in children with simple and complex seizures. Most children with WBC below and above the normal range were children with simple febrile seizures plus and those with complex seizures, respectively. HHV-6 was detected in 33% of children. HCMV was found in 5%, and EBV in 4% of children. There was no significant correlation between children with and without primary HHV-6 infection regarding age, gender, febrile seizures type and first-time seizures, nor significant differences in inflammatory markers except for WBC. The difference between the number of children with three-day fever and those without rash was borderline significant (p = 0.06); children with primary HHV-6 infection without rash had more frequent first-time seizures (p = 0.04). Conclusions: The clinical course of seizure disorders and the intensity of the inflammatory reaction in children were mild. HHV-6 was the most common causative agent of fever and seizure disorders.

Value of combining targeted emergency nursing with psychological nursing in children with febrile convulsions.

Febrile convulsions are a common pediatric emergency that imposes significant psychological stress on children and their families. Targeted emergency care and psychological nursing are widely applied in clinical practice, but their value and impact on the management of pediatric febrile convulsions are unclear. To determine the impact of targeted emergency nursing combined with psychological nursing on satisfaction in children with febrile convulsions. Data from 111 children with febrile convulsions who received treatment at Nantong Maternal and Child Health Care Hospital between June 2021 and October 2022 were analyzed. The control group consisted of 44 children who received conventional nursing care and the research group consisted of 67 children who received targeted emergency and psychological nursing. The time to fever resolution, time to resolution of convulsions, length of hospital stays, Pittsburgh Sleep Quality Index, patient compliance, nursing satisfaction of the parents, occurrence of complications during the nursing process, and parental anxiety and depression were compared between the control and research groups. Parental anxiety and depression were assessed using the Hamilton Rating Scale for Depression (HAMD) and the Hamilton Rating Scale for Anxiety (HAMA). The fever resolution, convulsion disappearance, and hospitalization times were longer in the control group compared with the research group (P < 0.0001). The time to falling asleep, sleep time, sleep quality, sleep disturbance, sleep efficiency, and daytime status scores were significantly better in the research group compared with the control group (P < 0.0001). The HAMD and HAMA scores for parents of children in the research group were lower than the scores in the control group after nursing (P < 0.05). Compliance with treatment of children in the research group was higher than in the control group (P < 0.05). Parental satisfaction with nursing in the research group was higher than in the control group (P < 0.05). The total complication rate of children in the control group was higher than in the research group (P < 0.05). Combining psychological nursing with targeted emergency nursing improved the satisfaction of children's families and compliance with treatment and promoted early recovery of clinical symptoms and improvement of sleep quality.

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience.

Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disease that generally appears in children between 2 and 4 years old, leading to seizures and a progressive loss of language and motor functions. As the disease progresses, affected individuals typically experience blindness and ultimately pass away in late childhood. Treatment with intracerebroventricular cerliponase alfa has been shown to slow the deterioration of motor and language functions compared to the natural progression of the disease. We aim to highlight the early symptoms of CLN2 which help with early diagnosis and timely treatment initiation in children with specific medical indications, as well as identify medical contraindications for enzyme replacement therapy. We describe five Croatian patients and one Bosnia and Herzegovinian patient with CLN2 disease, analyzing the clinical characteristics, neuroimaging findings, electroencephalogram results, genetic analysis, treatment indications and contraindications, and disease progression. All six patients presented with seizures: focal seizures (n = 1), myoclonic-atonic seizures (n = 1), febrile seizures (n = 2), and tonic-clonic seizures (n = 2), along with language delay (n = 6). Despite this, one patient refused treatment, two were initially included in the clinical trial and then continued treatment, one did not indicate starting treatment, and three continued treatment. One patient, after 4.5 years of treatment, no longer had medical indications for the therapy, which was discontinued. The other two patients who received treatment had a significant slowing of disease progression. The early onset of seizures between ages 2 and 4, alongside delayed language development, is a defining characteristic of CLN2 disease. Enzyme replacement therapy using cerliponase alfa represents the initial treatment for neuronal ceroid lipofuscinosis type 2, targeting the underlying cause of the disease. It effectively delays the progression of language and motor decline in patients diagnosed with this condition.

Discontinuation of antiseizure medication in patients with epilepsy

Approximately two thirds of patients with epilepsy become seizure-free with antiseizure medication (ASM). Acentral question is whether and when ASM can be discontinued. To present an overview of the current knowledge about risks and benefits of discontinuation of ASM. Review of the current literature, discussion of data on and recommendations for discontinuation of ASM. The risk of seizure recurrence after discontinuation of ASM is approximately 40-50% and thus twice as high as continuing with ASM. Guidelines recommend considering discontinuation of ASM at earliest after aseizure-free period of 2years. Predictive variables for seizure recurrence after stopping ASM include longer duration of epilepsy and higher number of seizures until remission, ashorter seizure-free interval until stopping ASM, older age at epilepsy onset, developmental delay or IQ < 70, febrile seizures in childhood, absence of aself-limiting epilepsy syndrome, and evidence of epileptiform activity in the electroencephalograph (EEG). The individual risk of seizure recurrence after stopping ASM can be estimated using an online prediction tool. Discontinuation of ASM should be discussed with patients at the earliest after 2years of seizure freedom in ashared decision-making process weighing up the risks and benefits. The risk of aseizure recurrence depends on anumber of clinical variables. Psychosocial aspects, such as impact on driving and occupational issues must be taken into consideration as well as individual fears and concerns of patients about seizure recurrence or the long-term use of ASM.

Development of Interoperable Computable Phenotype Algorithms for Adverse Events of Special Interest to Be Used for Biologics Safety Surveillance: Validation Study.

Adverse events associated with vaccination have been evaluated by epidemiological studies and more recently have gained additional attention with the emergency use authorization of several COVID-19 vaccines. As part of its responsibility to conduct postmarket surveillance, the US Food and Drug Administration continues to monitor several adverse events of special interest (AESIs) to ensure vaccine safety, including for COVID-19. This study is part of the Biologics Effectiveness and Safety Initiative, which aims to improve the Food and Drug Administration's postmarket surveillance capabilities while minimizing public burden. This study aimed to enhance active surveillance efforts through a rules-based, computable phenotype algorithm to identify 5 AESIs being monitored by the Center for Disease Control and Prevention for COVID-19 or other vaccines: anaphylaxis, Guillain-Barré syndrome, myocarditis/pericarditis, thrombosis with thrombocytopenia syndrome, and febrile seizure. This study examined whether these phenotypes have sufficiently high positive predictive value (PPV) to ensure that the cases selected for surveillance are reasonably likely to be a postbiologic adverse event. This allows patient privacy, and security concerns for the data sharing of patients who had nonadverse events can be properly accounted for when evaluating the cost-benefit aspect of our approach. AESI phenotype algorithms were developed to apply to electronic health record data at health provider organizations across the country by querying for standard and interoperable codes. The codes queried in the rules represent symptoms, diagnoses, or treatments of the AESI sourced from published case definitions and input from clinicians. To validate the performance of the algorithms, we applied them to electronic health record data from a US academic health system and provided a sample of cases for clinicians to evaluate. Performance was assessed using PPV. With a PPV of 93.3%, our anaphylaxis algorithm performed the best. The PPVs for our febrile seizure, myocarditis/pericarditis, thrombocytopenia syndrome, and Guillain-Barré syndrome algorithms were 89%, 83.5%, 70.2%, and 47.2%, respectively. Given our algorithm design and performance, our results support continued research into using interoperable algorithms for widespread AESI postmarket detection.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABAA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype correlation analysis in a cohort of individuals with GABRB2 variants. Genetic and electroclinical data of 42 individuals harbouring 26 different GABRB2 variants were collected and accompanied by electrophysiological analysis of the effects of the variants on receptor function. Electrophysiological assessments of α1β2γ2 receptors revealed that 25/26 variants caused dysfunction to core receptor properties such as GABA sensitivity. Of these, 17 resulted in gain-of-function (GOF) while eight yielded loss-of-function traits (LOF). Genotype-phenotype correlation analysis revealed that individuals harbouring GOF variants suffered from severe developmental delay/intellectual disability (DD/ID, 74%), movement disorders such as dystonia or dyskinesia (59%), microcephaly (50%) and high risk of early mortality (26%). Conversely, LOF variants were associated with milder disease manifestations. Individuals with these variants typically exhibited fever-triggered seizures (92%), milder degrees of DD/ID (85%), and maintained ambulatory function (85%). Notably, severe movement disorders or microcephaly were not reported in individuals with loss-of-function variants. The data reveals that genetic variants in GABRB2 can lead to both gain and loss-of-function, and this divergence is correlated with distinct disease manifestations. Utilising this information, we constructed a diagnostic flowchart that aids in predicting the pathogenicity of recently identified variants by considering clinical phenotypes. This work was funded by the Australian National Health & Medical Research Council, the Novo Nordisk Foundation and The Lundbeck Foundation.

Population-Based Analysis of 6534 Seizure Emergency Cases from Emergency Medical Services Data.

Seizures are common reasons to call an ambulance, and this study aims to analyze the burden of seizures in the prehospital setting based on incidence, hospital admission rate, and costs. This was a population-based, cross-sectional analysis of prehospital emergency medical services (EMS) data on suspected seizure cases from the federal state of Hesse, Germany, in 2019. A total of 6534 suspected seizure cases were identified, of which most were those with a known seizure disorder. Incidence rate for epilepsy-related seizures (ES; pediatric epilepsy, first seizure [1stS], seizure with known seizure disorder [SEPI]) was 205.7 per 100,000 inhabitants and incidence rate for pediatric febrile seizures (PFS) was 36.7 per 100,000 inhabitants, corresponding to 171,275 ES and 28,500 PFS (99.3% < 18years) cases in Germany. A prehospital EMS physician was involved in 40.0% (SEPI) to 54.4% (PFS) of suspected seizure cases. Depending on the type of seizure, 70.7% (SEPI) to 80.9% (1stS) were admitted to hospital for inpatient stay of ≥ 24h. An additional 4% (PFS) to 16% (1stS) of cases needed immediate intervention at hospital. Prehospital EMS staff needed 8:24min:s (SD 7:24; n = 5004) after the emergency call to arrive at the scene of the ES and 10:58min:s (SD 27:39; n = 321) for PFS. ES and PFS cases caused estimated costs of 48.5 and 8.1million euros for Germany in 2019, respectively, not including hospital treatment-related costs. This study identified a high number of suspected seizure-related emergency casesand proportion of patients admitted to hospitals, as well as high associated costs in Germany.

Risk factors and predictors of recurrence of febrile seizures in children in Nantong, China: a retrospective cohort study

BackgroundAlthough most children with febrile seizures (FS) have a favorable prognosis, some experience recurrence within 1–3 years. Age, peak temperature, and family history are now recognized as important risk factors for FS recurrence, yet studies in this area are lacking in China. This study aimed to investigate the risk factors for FS recurrence in children in Nantong, China, and to develop a prediction model.MethodsThis retrospective cohort study analyzed 463 children diagnosed with febrile seizures (FS) who presented to the Affiliated Hospital of Nantong University between January 2015 and June 2020. Basic information, disease characteristics, and laboratory and imaging data were collected. A follow-up survey was conducted one year post-discharge to assess the recurrence status of FS in children. Univariate logistic regression and random forest models were used to identify and rank the predictive ability of risk factors for recurrence.ResultsOf the 463 children with FS, 70 experienced recurrences within 1 year of discharge, resulting in a one-year recurrence rate of 15%. Age (OR = 0.61, 95% CI: 0.46, 0.80, P < 0.001), duration of the first episode (OR = 1.03, 95% CI: 1.00, 1.06, P = 0.040), and peak temperature (OR = 0.68, 95% CI: 0.47, 0.98, P = 0.036) were identified as independent risk factors for FS recurrence. Age had the highest relative importance in predicting FS recurrence, followed by the duration of the first episode, with an area under the ROC curve of 0.717.ConclusionYoung age and duration of the first seizure are important independent risk factors for FS recurrence and are key considerations for predicting recurrence. Further research is needed to confirm the potential use of Neutrophil–lymphocyte ratio (NLR) as a predictor of FS recurrence.

Clinical Profile of Hospitalized Varicella Cases From Pediatric Emergency Consultations: A Retrospective Cohort Study.

Varicella is a very common childhood infectious disease. It is generally benign, but it can lead to fatal complications. Our study aimed to describe theclinical and therapeutic profile of varicella based on consultations in the pediatric emergency department, to determine the incidence of hospitalized varicellacasesin the pediatric department for complementary management,and to specify the incidence of varicella complications in hospitalized patients. We conducted a retrospective descriptive cohort study over 12 months. It took place in the pediatrics and pediatric emergency departments of the Mother-Child Hospital of the Mohammed VI University Hospital, Mohammed I University, in Oujda, Morocco. We collected 120 cases of varicella. The mean age of patients was 4.5 years. The most common age range was 4-6 years (69%). Males predominated. The reason for consulting the pediatric emergency department wasa febrile rash in 65% of cases. Treatment in pediatric emergencies was mostly symptomatic. Antibiotic treatment for superinfection of lesions was used in 11% of cases. The number of hospitalizations due to complicated and/or severe varicella was 17 cases. The median age was 6.3 years. Most of the children (82%) were immunodeficient and 18% were immunocompetent.Sixteen patients had underlying risk factors. Infectious skin and soft tissue complications were noted in most hospitalized patients (47%). They were mainly presented by cutaneous reinfections with alteration of general health (41%). Neurological complications ranked second (23%). The majority were febrile convulsions (17%). One case of bronchopulmonary complication was noted. No hematological, digestive, renal, or cardiac complications were noted. Intravenous antiviral treatment was used in 88% of hospitalized cases. The drug of choice was acyclovir. Antibiotic therapy was used in 53% of cases. No patient received corticosteroid therapy.The median length of hospitalization for our patients was 14 days. The evolution was favorable in 100% of cases. Varicella remains a benign disease in children, rarely leading to hospitalization. However, complications may develop in cases of comorbidity or children with risk factors. The introduction of the varicella vaccine into the national immunization program could considerably reduce the number of children hospitalized in the near future.

Evaluation of frequency bacterial meningitis causes with febrile seizures in children under five years at Imam Sajjad Hospital in Yasuj city from 2018 to 2020.

Evaluation of frequency bacterial meningitis causes with febrile seizures in children under five years at Imam Sajjad Hospital in Yasuj city from 2018 to 2020.

Association of Simple Febrile Seizure with Iron Deficiency Anemia in Children: A Case Control Study

Abstract: Background: Febrile seizure is an established entity in Pediatrics which characterizes with absence of any intracranial infection or metabolic disorders. Simple febrile seizure carries a favorable prognosis without any sequelae. Still, it emerges as the most common etiology of seizure till the age of five years. Iron deficiency anemia is a commonly witnessed micro-nutrient deficiency with a worldwide distribution. Objective: To establish relation of simple febrile seizure with iron deficiency anemia in paediatric population. Materials and Methods: Case-control study, conducted in Pediatric Medicine Department, King Fahad Armed Forces Hospital Southern Region, Khamis Mushayat, Kingdom of Saudi Arabia, from1st January 2022 to 30th June 2023. The 102 children, having age six months to five years, with a diagnosis of first simple febrile seizure were assessed. Likewise, the control group included 102 febrile children without convulsion. The hematological parameters evaluated for diagnosis of iron deficiency anemia included hemoglobin, mean corpuscular volume, serum ferritin, serum iron, total iron binding capacity &amp; red cell distribution width. Result: The mean age for first simple febrile seizure was 23 months. Acute respiratory infection was the most common etiology (80%). Iron deficiency anemia was identified in 17% of cases of simple febrile seizure, in contrary to 6% of cases with febrile illness without seizure, with odds ratio of 3.2. Conclusion: This study demonstrated that the children with iron deficiency anemia are at significantly higher risk of having febrile convulsions compare to control group with fever but without anemia. Keywords: Fever, Febrile seizure, Iron Deficiency anemia, Serum ferritin, Hemoglobin, Convulsion, Mean corpuscular hemoglobin.

Differential Diagnosis of Multisystem Inflammatory Syndrome, Influenza, Acute Coronavirus Infection COVID-19 with the Presence of Febrile Seizures and Generalized Meningococcal Infection in Children

Differential Diagnosis of Multisystem Inflammatory Syndrome, Influenza, Acute Coronavirus Infection COVID-19 with the Presence of Febrile Seizures and Generalized Meningococcal Infection in Children

Audiovisual Education Techniques on Mothers' Psychomotor Abilities in First Aid for Febrile Seizures in Toddlers

Background: One of the health issues that frequently affect infants is febrile seizures, which are brought on by a fever without any cerebral infection. This could cause death, paralysis, or even damage to the brain. This study aimed to analyze the effect of audio-visual techniques on the psychomotor abilities of mothers in providing first aid for simple febrile seizures in toddlers. Methods: The research design was a pre-experiment, a one-group pretest, and a post-test with a population of 90 mothers and a sample of 30 mothers with toddlers obtained by the purposive sampling technique. The inclusion criteria were mothers who were willing to be respondents, mothers with healthy toddlers, and mothers over 18 years of age. The pre-test was carried out before the intervention, and the intervention was given twice in one week with a duration of 25–30 minutes. A post-test was then carried out. Results: The Wilcoxon signed-rank test was used for statistical analysis (α = 0.05). The results of the study were obtained before the intervention; all respondents had psychomotor abilities in the lower category, and after the intervention, most of the respondents' psychomotor skills were in the higher category. Statistical results obtained a p-value of 0.000 (α = 0.05), which means that there was an effect of audiovisual education techniques on the psychomotor ability of the mother in first aid for simple febrile seizures. Conclusion: Audiovisual education techniques could stimulate the two senses of sight and hearing simultaneously, so that mothers were more focused on the material provided and the material was easier to accept, especially for psychomotor competence. Audiovisual techniques should be used as an alternative learning method for ordinary people because they are more effective in improving psychomotor abilities.

ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus.

To expand the phenotypic spectrum of ADGRL1 and explore the correlation between epilepsy and the ADGRL1 genotype. We performed whole-exome sequencing in a cohort of 115 families (including 195 males and 150 females) with familial febrile seizure or epilepsy with unexplained aetiology. The damaging effects of variants was predicted using protein modelling and multiple in silico tools. All reported patients with ADGRL1 pathogenic variants were analysed. One new ADGRL1 variant (p.Pro753Leu) was identified in one family with genetic epilepsy with febrile seizures. Further analysis of 12 ADGRL1 variants in 16 patients revealed that six patients had epilepsy. Epilepsy types ranged from early-onset epileptic encephalopathy to genetic epilepsy with febrile seizures plus (GEFS+). All four variants associated with epilepsy were located in the non-helix or sheet region of ADGRL1. Three of the four epilepsy-associated variants were missense variants. Thus, all three variants located in the G-protein-coupled receptor autoproteolytic-inducing domain exhibited epilepsy. We found one new missense variant of ADGRL1 in one family with GEFS+. ADGRL1 may be a potential candidate or susceptibility gene for epilepsy. ADGRL1-associated epilepsy ranged from benign GEFS+ to severe epileptic encephalopathy; the genotypes and variant locations may help explain the phenotypic heterogeneity of patients with the ADGRL1 variant.

SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.

To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorders (SETBP1-RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1-HD and 5 with SETBP1-RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1-HD and SETBP1-RD exhibited neurological impairments including intellectual disability/developmental delay (IDD), attention-deficit/hyperactivity disorder, autism spectrum disorder, and/or seizures, as well as speech and language delays. While restricted interests and repetitive behaviors present challenges, a relative strength was observed in social motivation within both cohorts. Individuals with SETBP1-RD reported a risk for heart issues and compared to SETBP1-HD greater risks for orthopedic and somatic issues with greater difficulty in bowel control. Higher rates for neonatal feeding difficulties and febrile seizures were reported for individuals with SETBP1-HD. Additional prominent characteristics included sleep, vision, and gastrointestinal issues, hypotonia, and high pain tolerance. This characterization of phenotypic overlap (IDD, speech challenges, autistic, and attention deficit traits) and differentiation (somatic and heart issue risks for SETBP1-RD) between the distinct neurodevelopmental disorders SETBP1-HD and SETBP1-RD is critical for medical management and diagnosis.

Analysis of Inflammatory Markers and Electroencephalogram Findings in Pediatric Patients with COVID-19: A Single-Center Study in Korea

Purpose: The Omicron variant wave spread rapidly from February 2022 in South Korea following the initial management of the coronavirus disease 2019 (COVID-19) outbreak. This study examined electroencephalogram (EEG) findings and serological inflammatory markers in pediatric patients with COVID-19 (Omicron variant).Methods: We retrospectively reviewed the medical records of 41 patients who presented at Gyeongsang National University Changwon Hospital between March and May 2022 and were diagnosed with COVID-19. All serological tests were performed within 24 hours of fever or seizure onset. Results: The median patient age was 3.6 years (range, 0.08 to 14.00), and the average hospital stay was 3.7 days (range, 1.0 to 7.0). Interleukin-6 (IL-6) levels were elevated above the normal range in all patients (median, 43.18 pg/mL; range, 7.0 to 190.0) and were higher among those who experienced seizures. Of the 41 total patients, 17 (41.5%; mean age, 5.4 years) visited the clinic for seizure. Three patients experienced prolonged seizures (lasting longer than 30 minutes) and received intravenous lorazepam, while eight presented with complex febrile seizures. Nine patients underwent EEG, of whom five exhibited abnormal initial findings. Linear regression demonstrated correlations between prolonged seizure duration and both serum IL-6 level and blood lymphocyte count.Conclusion: Numerous serological markers associated with the immune cascade were found to be elevated in children with COVID-19. Nevertheless, febrile seizures represent a relatively common neurological presentation among pediatric patients infected with Omicron variants. Consequently, COVID-19 infection exhibits both familiar and distinct characteristics regarding the mechanisms inducing seizures and fever in children.

Two-Year Follow-up Outcomes of Non-lesional Epilepsy Surgery in Iran

Background: Despite treatment with anti-epileptic drugs, 30% of epileptic patients continue to experience seizures, making surgery a viable option. Surgery has shown efficacy even in non-lesional epileptic individuals, although there is limited research on this topic. Objectives: This study aimed to investigate surgical outcomes in individuals with drug-resistant epilepsy (DRE) who undergo surgery despite having non-lesional magnetic resonance imaging (MRI) findings. Methods: This observational longitudinal study was conducted between 2017 and 2020 at a referral hospital in Tehran, Iran. Using census sampling, we screened 750 epilepsy cases and enrolled 80 patients (42 women and 38 men) with DRE and non-lesional MRI findings who underwent epilepsy surgery. We collected patients' demographics and seizure characteristics. A 2-year follow-up was conducted to assess the seizure freedom rate. We compared seizure-free and non-seizure-free patients who underwent temporal epilepsy surgery, extratemporal epilepsy surgery, corpus callosotomy, and Vagus nerve stimulation (VNS) using chi-square, Fisher exact, and binary logistic regression tests. Results: The seizure freedom rate was 62.7% for temporal surgery, 83.33% for extratemporal surgery, 26.66% for corpus callosotomy, and none for patients who underwent VNS. There was no difference between seizure-free and non-seizure-free patients in terms of their baseline characteristics, seizure semiology, lesion features, and post-operative findings (P-values &gt; 0.05), except that patients without a history of febrile convulsions tended to experience more seizure freedom after extratemporal surgery (P = 0.007). Additionally, older patients tended to experience more seizure freedom after temporal surgery (P = 0.03). Conclusions: This study underscores the potential benefits of epilepsy surgery in non-lesional DRE patients. Further research is needed to establish criteria for patient selection in this context.

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.

Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the plasma membrane. This attachment is catalyzed by GPI transamidase comprising five subunits (PIGK, PIGS, PIGT, PIGU, and GPAA1) in the endoplasmic reticulum. Loss of either subunit of GPI transamidase eliminates cell surface localization of GPI-anchored proteins. In humans, pathogenic variants in either subunit of GPI transamidase cause neurodevelopmental disorders. However, how the loss of GPI-anchored proteins triggers neurodevelopmental defects remains largely unclear. Here, we identified a novel homozygous variant of PIGK, NM_005482:c.481A > G,p. (Met161Val), in a Japanese female patient with neurodevelopmental delay, hypotonia, cerebellar atrophy, febrile seizures, hearing loss, growth impairment, dysmorphic facial features, and brachydactyly. The missense variant was found heterozygous in her father, but not in her mother. Zygosity analysis revealed that the homozygous PIGK variant in the patient was caused by paternal isodisomy. Rescue experiments using PIGK-deficient CHO cells revealed that the p.Met161Val variant of PIGK reduced GPI transamidase activity. Rescue experiments using pigk mutant zebrafish confirmed that the p.Met161Val variant compromised PIGK function in tactile-evoked motor response. We also demonstrated that axonal localization of voltage-gated sodium channels and concomitant generation of action potentials were impaired in pigk-deficient neurons in zebrafish, suggesting a link between GPI-anchored proteins and neuronal defects. Taken together, the missense p.Met161Val variant of PIGK is a novel pathogenic variant that causes the neurodevelopmental disorder.

Psychometric evaluation of the Chinese version of the febrile convulsion knowledge scale for parents/caregivers: translation and validation study

BackgroundFever is one of the most common clinical symptoms of respiratory diseases in children. Once the child has a fever, parents and caregivers are mainly concerned that the child may have a febrile convulsion. A lack of cognitive ability not only leads to anxiety but also aggravates or delays the time of children’s medical treatment and even seriously affects the prognosis because of improper management of fever patients.Therefore, it is necessary to clarify the degree of mastery of knowledge related to febrile convulsions, implement targeted guidance and health education, and ensure that parents and caregivers receive correct and reasonable first aid treatment. The purpose of this study was to translate the Febrile Convulsion Knowledge Scale for Parents/Caregivers into Chinese and to verify its reliability and validity for Chinese parents and caregivers of children.MethodsThe Brislin traditional translation model was used to translate the Febrile Convulsion Knowledge Scale for Parents/Caregivers from English to Chinese, following authorization from the original author of the scale. This involved literal translation, back translation, and cultural adaptation. A convenience sampling method was used to select 402 parents and caregivers of children in the pediatric ward and pediatric infusion clinic of a Grade III hospital in Liaoning Province. The item analysis method was employed to assess item differentiation, while the Delphi method was used to analyze content validity. Scale reliability was evaluated through the calculation of internal consistency and test-retest reliability. Exploratory and confirmatory factor analyses were conducted to explore and verify the underlying factor structure and scale validity.ResultsThe Chinese version of the Febrile Convulsion Knowledge Scale for Parents/Caregivers consists of 3 dimensions and 8 items. The Cronbach’s alpha coefficient was 0.828, with each dimension having coefficients of 0.806, 0.720, and 0.702. The split-half reliability and test-retest reliability were 0.716 and 0.790, respectively. The Chinese version has good reliability. Exploratory factor analysis revealed that the Bartlett sphericity test was 394.52 (p < 0.001) and that the KMO value was 0.802 > 0.600, indicating suitability for factor analysis. Principal component analysis and orthogonal rotation of maximum variance were performed on the data, and items with a load greater than 0.40 within a single factor were selected for inclusion. The resulting three-factor structure explained 70.78% of the total variance. All model fitting indices were within the acceptable range, indicating the good structural validity of the Chinese version. The results of both exploratory and confirmatory factor analyses support this conclusion.ConclusionsThe Chinese version of the Febrile Convulsion Knowledge Scale for Parents/Caregivers has good reliability and validity. It can be used as a tool for clinical pediatric nurses to evaluate the knowledge of parents and caregivers of children with febrile convulsion and provide the basis for the design and implementation of targeted training plans according to the results obtained from the Chinese scale.

Neurological Manifestations of Acute SARS-CoV-2 Infection in Pediatric Patients: A 3-Year Study on Differences between Pandemic Waves.

This study analyzed the neurological manifestation profiles of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection across pandemic waves in pediatric patients. The study collected data on patients aged between 0 and 18 years, diagnosed with acute SARS-CoV-2 infection, admitted to a pediatric tertiary hospital between 1 March 2020 and 28 February 2023. This study included 1677 patients. Neurological manifestations were noted in 10% (n = 168) of patients with a median age of 3.2 years (interquartile range: 1-11.92). Neurological manifestations were significantly associated with the pandemic waves (p = 0.006) and age groups (p < 0.001). Seizures were noted in 4.2% of cases and reached an increasing frequency over time (p = 0.001), but were not associated with age groups. Febrile seizures accounted for the majority of seizures. Headache was reported in 2.6% of cases and had similar frequencies across the pandemic waves and age groups. Muscular involvement was noted in 2% of cases, reached a decreasing frequency over time (p < 0.001), and showed different frequencies among the age groups. Neurological manifestations of acute SARS-CoV-2 infection exhibit distinct patterns, depending on the pandemic wave and patient age group. The Wuhan and Omicron waves involved the nervous system more often than the other waves.