Benign Childhood Research Articles

Structure-function interrelationships and associated neurotransmitter profiles in drug-naïve benign childhood epilepsy with central-temporal spikes patients.

To explore the interrelationships between structural and functional changes as well as the potential neurotransmitter profile alterations in drug-naïve benign childhood epilepsy with central-temporal spikes (BECTS) patients. Structural magnetic resonance imaging (sMRI) and resting-state functional MRI data from 20 drug-naïve BECTS patients and 33 healthy controls (HCs) were acquired. Parallel independent component analysis (P-ICA) was used to identify covarying components among gray matter volume (GMV) maps and fractional amplitude of low-frequency fluctuations (fALFF) maps. Furthermore, we explored the spatial correlations between GMV/fALFF changes derived from P-ICA and neurotransmitter maps in JuSpace toolbox. A significantly positive correlation (p < 0.001) was identified between one structural component (GMV_IC6) and one functional component (fALFF_IC4), which showed significant group differences between drug-naïve BECTS patients and HCs (GMV_IC6: p < 0.01; fALFF_IC4: p < 0.001). GMV_IC6 showed increased GMV in the frontal lobe, temporal lobe, thalamus, and precentral gyrus as well as fALFF_IC4 had enhanced fALFF in the cerebellum in drug-naïve BECTS patients compared to HCs. Moreover, significant correlations between GMV alterations in GMV_IC6 and the serotonin (5HT1a: p < 0.001; 5HT2a: p < 0.001), norepinephrine (NAT: p < 0.001) and glutamate systems (mGluR5: p < 0.001) as well as between fALFF alterations in fALFF_IC4 and the norepinephrine system (NAT: p < 0.001) were detected. The current findings suggest co-altered structural/functional components that reflect the correlation of language and motor networks as well as associated with the serotonergic, noradrenergic, and glutamatergic neurotransmitter systems. The relationship between anatomical brain structure and intrinsic neural activity was evaluated using a multimodal fusion analysis and neurotransmitters which might provide an important window into the multimodal neural and underlying molecular mechanisms of benign childhood epilepsy with central-temporal spikes. Structure-function relationships in drug-naïve benign childhood epilepsy with central-temporal spikes (BECTS) patients were explored. The interrelated structure-function components were found and correlated with the serotonin, norepinephrine, and glutamate systems. Co-altered structural/functional components reflect the correlation of language and motor networks and correlate with the specific neurotransmitter systems.

A novel splicing variant in MICAL-1 gene is associated with epilepsy

Germline MICAL1 defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.4 years. EEG showed abnormal δ-wave activity in the right central and middle temporal lobe. Trio WES showed a novel heterozygous variant c.-43-1G > A in the MICAL1 gene in the patient and her normal mother. Minigene verified two abnormal transcripts due to the mutation, which was predicted to interrupt 5′UTR structures of MICAL1. The patient was clinically diagnosed with benign childhood epilepsy with centrotemporal spike (BECTS). As far as we know, this is the first BECTS case with documented MICAL1 mutation. Novel MICAL1 variant c.-43-1G > A putatively interrupted MICAL1 translation by changing 5′UTR structures and, however, further functioning study is needed.

Clinical features and use of renal replacement therapy in children who visit the emergency department with benign acute childhood myositis or rhabdomyolysis who visit the emergency department

Purpose: This study was performed to analyze clinical features and use of renal replacement therapy (RRT) for children who visit the pediatric emergency department with benign acute childhood myositis (BACM) or rhabdomyolysis.Methods: We retrospectively reviewed medical records of 289 children who visited the emergency department with BACM or rhabdomyolysis from January 2013 through December 2022. Clinical features, laboratory and microbiological findings, and outcomes were compared between children with the two diagnoses. Subsequently, multivariable logistic regressions were performed to identify factors associated with applying RRT.Results: Of the 289 children, a total of 212 were analyzed, including 93 with BACM and 119 with rhabdomyolysis. Influenza (70 of the 145 children [48.3%]) was the most common cause, followed by exercise (36 of 212 [17.0%]). Compared with the children with BACM, those with rhabdomyolysis showed significantly higher frequencies of being boys and hematuria, and higher concentrations of hemoglobin, creatinine, creatine kinase, and myoglobin. Continuous venovenous hemofiltration, a modality of RRT, was applied to 8 children (6.7%) with rhabdomyolysis, of whom 1 died. Creatine kinase was independently associated with the application of RRT (adjusted odds ratio, 1.06; 95% confidence interval, 1.00-1.12; P = 0.036).Conclusion: Rhabdomyolysis in children who require RRT may be associated with a higher concentration of creatine kinase.

Risk factors of electrical status epilepticus during sleep in children with benign childhood epilepsy with centro-temporal spikes.

To explore risk factors of electrical status epilepticus during sleep in children with benign childhood epilepsy with centro-temporal spikes (BECT). This is a clinical comparative study. The subjects of study were 67 children with BECT from the Outpatient Department of Pediatric Neurology in Xingtai People's Hospital from January 2019 to January 2022. According to the occurrence of ESES, the enrolled children were divided into control group which included BECT children without ESES and the observation group which included BECT children with ESES. Compared differences of the two groups in the age of first seizure, the frequency of seizures before treatment, the classification of treatment drugs, cranial MRI, and discharge side of electroencephalogram (EEG). There was no statistical difference between the two groups in the frequency of seizures before treatment, the classification of treatment drugs, cranial MRI, and the distribution of EEG discharges in the left and right cerebral areas(P>0.05). Statistical differences were observed in the age of the first seizure, whether the seizures occurred after treatment, and EEG discharges in unilateral/bilateral cerebral areas (P<0.05). Furthermore, the collinearity test and Logistic regression analysis showed that the age of the first seizure, the frequency of seizures before treatment, and whether the seizures occurred after treatment were independent risk factors for the occurrence of ESES in BECT (P<0.05). Clinically, the occurrence of ESES in children with BECT may be related to the younger age of the first seizure, higher frequency of seizures before treatment, and the occurrence of seizures after treatment.

Myositis: A Comeback Complication of Viral Endemics

Acute benign childhood myositis (ABCM) is an uncommon presentation of viral upper respiratory tract infection. Multiple etiologies exist, with the common association of influenzas A and B. The patient usually presents with lower limb pain with associated gait abnormalities in much more severe cases. The diagnosis is made through certain laboratory investigations, with an important aspect of excluding more serious differential diagnoses. This case report follows a 6-year-old male presenting with a complaint of bilateral calf pain and weakness, The Patient tested positive for influenza A leading to the diagnosis of ABCM.

Varicella Zoster Virus (VZV) Infection: A Comprehensive Review of Chickenpox

Varicella, commonly known as chickenpox, is a contagious infectious disease caused by the varicella zoster virus (VZV). Although often considered a benign childhood illness, chickenpox can lead to severe complications, particularly in susceptible populations. This article provides a comprehensive review of chickenpox, delving into its etiology, pathogenesis, clinical manifestations, and the evolving landscape of prevention and treatment. Additionally, we explore the implications of chickenpox in the context of public health and emerging trends in vaccination strategies.

Development of a new gene therapy drug as a treatment for hypophosphatasia

Development of a new gene therapy drug as a treatment for hypophosphatasia The current primary treatment for hypophosphatasia is enzyme replacement therapy however the development of a new gene therapy drug, ARU-2801, may change the landscape forever. Hypophosphatasia (HPP) is a rare bone disease caused by mutations in the ALPL gene, which encodes tissue- nonspecific alkaline phosphatase (TNALP). Symptoms range from mild to severe depending on the patient and are classified into six types according to the age of onset: perinatal lethal form, perinatal benign form, infantile form, childhood form, adult form, and odontohypophosphatasia. If untreated, almost all patients with the perinatal lethal form and about half of those with the infantile form will die.

KNOWLEDGE, ATTITUDE AND VACCINATION STATUS OF VARICELLA AMONG STUDENTS OF HEALTH SCIENCES UNIVERSITY

Introduction: Varicella although a common benign childhood disease can be lethal particularly in neonates, geriatric people and immunocompromised people due to its rare but severe complications. Knowledge of this disease and its complications is an integral part of the curriculum for healthcare students. This study was implemented to determine the level of knowledge of varicella and the benets of vaccination among undergraduate students of different healthcare courses. Materials and Methods: The study was conducted in RAK Medical and Health Sciences University (RAKMHSU) with due approval from the research and ethics committee. A Pre designed pre validated 20-point questionnaire was prepared using various related articles obtained from indexed, peer reviewed journals. Convenience sampling was done across the student population at RAKMHSU to assess levels of awareness regarding their knowledge of etiology, pathogenesis, clinical manifestations, prevention and treatment of Chicken Pox. A total 213 students of both gender and different courses were involved the study. Results: All students had reasonable knowledge regarding the clinical symptoms and transmissibility of the disease. Medical students had the highest knowledge about the vaccine and its dosage. Discussion and Conclusion: The study concluded that awareness regarding the vaccine and its potential against Varicella was moderate to low among health sciences students and that there is a denite need for strategic measures to promote knowledge on the subject.

Development of gene therapy for hypophosphatasia

Hypophosphatasia (HPP) is a disease caused by an inborn defect in the production of alkaline phosphatase that affects bones and teeth. The six types are perinatal lethal form, perinatal benign form, infantile form, childhood form, adulthood form and odontohypophosphatasia. Treatments have historically been limited but, in 2015, an enzyme replacement therapy known as Asfotase Alfa was approved. This has improved life expectancy and quality of life but drawbacks such as requires 3-6 injections per week for life, injection pain and swelling at injection sites remain. Professor Koichi Miyake and his team at the Department of Gene Therapy at Nippon Medical School (NMS), Japan, are working to improve treatments for HPP. The researchers are developing novel therapeutic agents to potentially treat HPP by only single injection, one of which is ARU-2801. The hope is that this will not only prolong the life of HPP patients and improve their symptoms, but also improve their quality of life and will also improve the symptoms of patients with disease types that currently cannot be treated with enzyme replacement therapy. Miyake and the team have evaluated the efficacy and safety of ARU-2801 using non-human primates (NHPs). In their studies, ARU-2801 was able to maintain tissue nonspecific alkaline phosphatase (TNALP) expression in NHPs and mice for a long period, with no side effects. In future clinical trials the effectiveness of ARU-2801 will need to be confirmed in patients.

An improved BECT spike detection method with functional brain network features based on PLV.

Children with benign childhood epilepsy with centro-temporal spikes (BECT) have spikes, sharps, and composite waves on their electroencephalogram (EEG). It is necessary to detect spikes to diagnose BECT clinically. The template matching method can identify spikes effectively. However, due to the individual specificity, finding representative templates to detect spikes in actual applications is often challenging. This paper proposes a spike detection method using functional brain networks based on phase locking value (FBN-PLV) and deep learning. To obtain high detection effect, this method uses a specific template matching method and the 'peak-to-peak' phenomenon of montages to obtain a set of candidate spikes. With the set of candidate spikes, functional brain networks (FBN) are constructed based on phase locking value (PLV) to extract the features of the network structure during spike discharge with phase synchronization. Finally, the time domain features of the candidate spikes and the structural features of the FBN-PLV are input into the artificial neural network (ANN) to identify the spikes. Based on FBN-PLV and ANN, the EEG data sets of four BECT cases from the Children's Hospital, Zhejiang University School of Medicine are tested with the AC of 97.6%, SE of 98.3%, and SP 96.8%.

GENETIC EPILEPTIC AND DEVELOPMENTAL ENCEPHALOPATHIES OF THE EARLY AGE: FROM SYMPTOMS GENETIC TESTING TO DIAGNOSIS

Introduction. The problem of early diagnostics of orphan diseases is relevant for most countries of the world. The challenge for healthcare is to prevent new cases of orphan diseases by providing medical genetic testing and counseling at the stage of family planning. Department of psychoneurology of the State Intstitution "Institute of Pediatrics, Obstetrics and Gynecology named after Academician O.M. Lukyanova National Academy of Medical Sciences of Ukraine" has been dealing with the problem of orphan diseases since 2012 and has significant experience in their diagnosis and treatment in children.The aim of paper: to develop an algorithm for the genetic diagnosis of epileptic and developmental encephalopathies in children with developmental delay and dimorphic features based on modern data on the application and interpretation of genetic methods. A case which demonstrate the complexity of interpreting the results and algorithms for early diagnosis of patients and the importance of medical and genetic counseling is presentedMaterial and methods: clinical and neurological examination, sleep video-EEG monitoring during night sleep, brain magnetic resonance imaging (3.0T), whole-exome sequencing (WES).Results. The article presents the algorithm of genetic diagnosis of orphan diseases in children with developmental and epileptic encephalopathies, developmental delay, and dimorphic features. A clinical case of a boy with general developmental delay and atonic epileptic seizures is presented. Sleep EEG-monitoring showed epileptiform activity in the stage of slow-wave sleep localized in the central-parietal and left temporal areas in the form of benign childhood epileptiform patterns.Whole-exome sequencing detected a variant of uncertain significance (VUS) c.5887C&gt;T(p.Arg1963Cys) of SON gene in a heterozygous state, which leads to the replacement of arginine to cysteine. Mutations in the SON gene in the heterozygous state have been described in patients with Zhu-Tokita-Takenouchi-Kim syndrome (OMIM: 617140).Conclusions: It is important for pediatricians and neurologists to be aware of orphan diseases in children with developmental and epileptic encephalopaties and developmental delay. Genetic tests are wide available but they require competent interpretation by clinicists. After obtaining the results, it is important to compare the obtained result with the phenotype of patient. In case the phenotype of patient match and the results of genetic test, (detected VUS) this mutation could be etiological factor of the disease. In our case, the clinical signs coincided with those described in 2015 by the authors of the first description of Zhu-Tokita-Takenuchi-Kim syndrome, and therefore genetic testing helped to verify the final diagnosis. Therefore genetic counseling is extremely important for detection of etiology and prognosis of early developmental and epileptic encephalopathies/

Alternations of neuromagnetic activity across neurocognitive core networks among benign childhood epilepsy with centrotemporal spikes: A multi-frequency MEG study.

We aimed to investigate the alternations of neuromagnetic activity across neurocognitive core networks among early untreated children having benign childhood epilepsy with centrotemporal spikes (BECTS). We recorded the Magnetoencephalography (MEG) resting-state data from 48 untreated children having BECTS and 24 healthy children. The fourth edition of the Wechsler Intelligence Scale for Children (WISC-IV) was utilized to divide the children with BECTS into two groups: the cognitive impairment (CI) group with a full-scale intelligence quotient (FSIQ) of < 90 and the cognitive non-impairment (CNI) group with an FSIQ of > 90. We selected 26 bilateral cognitive-related regions of interest based on the triple network model. The neurocognitive core network spectral power was estimated using a minimum norm estimate (MNE). In the CNI group, the spectral power inside the bilateral anterior cingulate cortex (ACC) and the bilateral caudal middle frontal cortex (CMF) enhanced within the delta band and reduced within the alpha band. Both the CI and the CNI group demonstrated enhanced spectral power inside the bilateral posterior cingulate cortex (PCC), bilateral precuneus (PCu) region, bilateral superior and middle temporal cortex, bilateral inferior parietal lobe (IPL), and bilateral supramarginal cortex (SM) region in the delta band. Moreover, there was decreased spectral power in the alpha band. In addition, there were consistent changes in the high-frequency spectrum (> 90 Hz). The spectral power density within the insula cortex (IC), superior temporal cortex (ST), middle temporal cortex (MT), and parahippocampal cortex (PaH) also decreased. Therefore, studying high-frequency activity could lead to a new understanding of the pathogenesis of BECTS. The alternations of spectral power among neurocognitive core networks could account for CI among early untreated children having BECTS. The dynamic properties of spectral power in different frequency bands could behave as biomarkers for diagnosing new BECTS.

Altered Language-Related Effective Connectivity in Patients with Benign Childhood Epilepsy with Centrotemporal Spikes

Benign childhood epilepsy with centrotemporal spikes (BECTS) is one of the most common childhood epilepsy syndromes and may be associated with language deficits. Resting-state functional magnetic resonance imaging (fMRI) data were collected from a total of 78 children: 52 patients with BECTS (28 drug-naïve and 24 medicated) and 26 healthy controls (HC). Granger causality analysis (GCA) was used to investigate alterations in effective connectivity (EC) between the language network core node (Broca's area) and the whole brain. EC from Broca's area to the left Heschl's gyrus (HG), right putamen, and anterior cingulate cortex (ACC) was significantly increased, while EC from the bilateral putamen and left ACC to Broca's area was significantly decreased in BECTS. Moreover, altered EC of Broca's area to the right putamen was significantly positively correlated with verbal IQ (VIQ), while altered EC of Broca's area to the ACC showed significantly negative correlations with the frequency of seizures. Altered EC from the left putamen to Broca's area was also significantly negatively correlated with performance IQ (PIQ) and full-scale IQ (FSIQ) in the drug-naïve group. In addition, there was a significant positive correlation between the EC of Broca's area to the left HG and the number of seizures, as well as between the EC of Broca's area to the right putamen and the age at onset in the medicated group. These findings suggest abnormal causal effects on the language network related to Broca's area in children with BECTS. Longitudinal investigation of language network development and further follow-up may be needed to illuminate the changes in organization and rebalancing over time.

Association of Epilepsy in Children Experiencing Febrile Seizure: Findings from National Institute of Neuroscience, Bangladesh

Background: Febrile seizure-(FS) remains the commonest benign convulsive childhood event. Prolonged-FS may have long-term consequences, including increased risk of subsequent-epilepsy. Objective: To assess if there is any association among epilepsy and epilepsy syndrome with FS. Methodology: This cross-sectional study was conducted in Epilepsy Clinic, National Institute of Neurosciences, Bangladesh, from January-June, 2021 involving one hundred 1-18 years-old-children diagnosed as epilepsy without secondary causes (intracranial space occupying lesion, head-trauma, CNS-infection, stroke). Patients were clinically evaluated thoroughly and were divided into two groups (Gp): Gp-A having a history of (H/O) FS and Gp-B, without FS. Demographically, clinical profile and electrophysiological-parameters were compared between the two groups for association with H/O FS. Pre-checked/cleaned-data were analyzed using SPSS.V.22.0 for proportional differences, taken p&lt;.05 as significant (95%-CI). It was distributed nearly equally among both sexes, irrespective of FS. Although generalized epilepsy was common in both 12/14 (85.71%) Gp-A Vs. 54/86 (62.79%) Gp-B; epilepsy syndrome (infantile spasm, LGS, JME, JAE) revealed significantly more among non-FS-children than genetic epilepsy FS+ was more in FS group (p = 0.04). On EEG, generalized slowing [2/14 (14.28%)], generalized discharge [3/14 (21.42%) and features of encephalopathy [3/14 (21.42)] was observed more in patients with H/O FS, than non-FS. Conclusion: In contrast to other types of epilepsy, our study revealed that genetic epilepsy febrile seizures + was associated with epileptic children who had H/O FS. The Journal of Ad-din Women's Medical College; Vol. 11 (1), Jan 2023; p 38-43

Samoograničavajuća epilepsija sa centrotemporalnim šiljcima - stari znanac u novom ruhu

Summary: The International League Against Epilepsy (ILAE) in 2017, in its latest classification, lists Selflimited epilepsy with centrotemporal spikes (SeLECTS) among childhood focal epilepsies. The cardinal feature of rolandic epilepsy is focal epileptic seizures. Seizures can manifest in various ways, usually classified into groups of symptoms: 1) unilateral facial sensory-motor symptoms (30% of patients); 2) oro-pharyngo-laryngeal symptoms (53% of patients); 3) speech impairment (40%); 4) hypersalivation (30%). There is a clear influence of sleep, drowsiness, and sleep deprivation on seizure frequency. Threequarters of seizures occur during nonREM sleep, mostly at the beginning of sleep or just before waking up. Febrile convulsions are often encountered in personal history (5-15%). A positive family history is often found in SeLECTS, indicating a genetic etiology. EEG findings: High-voltage spike-wave complexes activated during drowsiness and sleep are a striking feature of this entity (essential for diagnosis). The initial part of the graph element is usually described as a spike, although precise measurements often show it to be a sharp wave. The site of occurrence is typical, and most earlier names for this syndrome referred to that site. Furthermore, it has been shown that the frequency of spike-wave complexes depends on the state of wakefulness, i.e., they occur more often during sleep. Moreover, in repeated EEG registrations, the site of occurrence can change, so the epileptic focus often appeared in a different location compared to previous registrations ("spike migration"). This also involved a change of hemisphere, which was strong evidence against a structural lesion, i.e., indirect evidence that this is the entity in question. With the expansion of knowledge about benign childhood epilepsy with centrotemporal spikes, it is generally accepted that there are small but statistically significant abnormalities in the cognitive, behavioral, and emotional fields of children with this type of epilepsy.

Structural and functional changes in drug-naïve benign childhood epilepsy with centrotemporal spikes and their associated gene expression profiles.

Benign epilepsy with centrotemporal spikes (BECTS) is a common pediatric epilepsy syndrome that has been widely reported to show abnormal brain structure and function. However, the genetic mechanisms underlying structural and functional changes remain largely unknown. Based on the structural and resting-state functional magnetic resonance imaging data of 22 drug-naïve children with BECTS and 33 healthy controls, we conducted voxel-based morphology (VBM) and fractional amplitude of low-frequency fluctuation (fALFF) analyses to compare cortical morphology and spontaneous brain activity between the 2 groups. In combination with the Allen Human Brain Atlas, transcriptome-neuroimaging spatial correlation analyses were applied to explore gene expression profiles associated with gray matter volume (GMV) and fALFF changes in BECTS. VBM analysis demonstrated significantly increased GMV in the right brainstem and right middle cingulate gyrus in BECTS. Moreover, children with BECTS exhibited significantly increased fALFF in left temporal pole, while decreased fALFF in right thalamus and left precuneus. These brain structural and functional alterations were closely related to behavioral and cognitive deficits, and the fALFF-linked gene expression profiles were enriched in voltage-gated ion channel and synaptic activity as well as neuron projection. Our findings suggest that brain morphological and functional abnormalities in children with BECTS involve complex polygenic genetic mechanisms.

129. Standardization of cancer terminology in the Mondo Disease Ontology

Biomedical ontologies provide a standard computable representation of knowledge that can be used to integrate and navigate large amounts of heterogeneous data for downstream computational analysis and knowledge discovery. The Mondo Disease Ontology (Mondo) is a semantic resource that integrates several existing disease terminologies, provides precise, curated semantic mappings between them, and unifies them into one coherent classification of diseases. Cancer concepts in Mondo are formally classified into a hierarchical representation, which can be used to annotate data at different levels of granularity. Neoplasm is the top-level class and subtypes (subclasses) are largely aligned with the NCIt neoplasm branch, with malignant neoplasms (cancers) being classified as subtypes. Classes are grouped in multiple ways, such as by anatomical entities affected (such as cardiovascular or digestive system neoplasms), by malignancy (benign, pre-malignant, or malignant, or onset (childhood neoplasm). In addition, Mondo has representations of susceptibilities to cancers and hereditary neoplastic syndromes such as Lynch Syndrome and Li-Fraumeni syndrome. Mondo provides mappings to other disease resources such as the National Cancer Institute Thesaurus (NCIt), as well as cancer terminology from Orphanet, OMIM, Disease Ontology, and others. Mondo precisely annotates each mapping using strict semantics, so that we know when two diseases are precisely equivalent or merely closely related. Mondo is iteratively developed and revised and we invite the community to contribute to Mondo; visit github.com/monarch-initiative/mondo for details.

Disrupted functional connectivity patterns of the left inferior frontal gyrus subregions in benign childhood epilepsy with centrotemporal spikes.

BackgroundBenign epilepsy with centrotemporal spikes (BECTS) is one of the most common pediatric epileptic syndromes. Recent studies have shown that BECTS can lead to significant language dysfunction. Although research supports the role of the left inferior frontal gyrus (LIFG) in BECTS, it is unclear whether the subregions of the LIFG show different change patterns in patients with this syndrome.MethodsUsing resting-state functional magnetic resonance imaging (fMRI) data in a group of 49 BECTS patients and 49 healthy controls, we investigated whether the BECTS patients show abnormal connectivity patterns of the LIFG subregions.ResultsCompared with healthy controls, the BECTS patients exhibited higher connectivity between the following: the inferior frontal sulcus (IFS) and the right anterior cingulate cortex (ACC), and the ventral area 44 (A44v) region and the left hippocampus/parahippocampus. Also, a decreased connectivity was found between the IFS and the left inferior temporal gyrus (ITG). No other significant differences in functional connectivity were found in the other 4 functional subregions of the LIFG in the BECTS.ConclusionsThese findings provide evidence for BECTS-related functional connectivity patterns of the LIFG subregions and suggest that different subregions may be involved in different neural circuits associated with language function in the BECTS.

Efficacy and adverse reactions of perampanel in the treatment of epilepsy in children.

ObjectiveTo observe the clinical effect and adverse reactions of perampanel in the treatment of epilepsy in children.MethodsA retrospective analysis was performed on 83 children with epilepsy who were treated with perampanel in the Department of Pediatric Neurology, Second Affiliated Hospital of Xi'an Jiaotong University from April to August 2021. The treatment status, prognosis and adverse reactions were followed up. The effective rates of different age groups, different seizure types and epilepsy syndromes, and different treatment methods were statistically analyzed. The effective rate and adverse reactions of all patients were statistically analyzed.ResultsThe overall effective rate of perampanel in the treatment of epilepsy was 62.03%, and there was no significant difference in the effective rate of perampanel in the treatment of epilepsy in patients of different ages (P > 0.05). The effective rates of perampanel in the treatment of focal seizures and generalized seizures were 60.38% and 65.38%, and the effective rates of benign childhood epilepsy with centrotemporal spikes (BECT), BECT combined with electrical status epilepticus during sleep (ESES) and frontal lobe epilepsy (FLE) were 88.89, 72.73, and 66.67%. The effective rates of monotherapy and combination therapy were 88.88 and 58.57%, respectively. The above statistical differences were not statistically significant (P > 0.05). In addition, the adverse reaction rate of perampanel treatment was 16.45%, including irritability, drowsiness, dizziness, nausea, vomiting and abnormal liver function.ConclusionPerampanel has a high efficiency and controllable adverse reactions in the treatment of childhood epilepsy. This drug can be used as a reliable choice for long-term use in the treatment of epilepsy in children.

Writing and Reading Skills in Children with Benign Childhood Epilepsy with Centrotemporal Spikes: Systematic Review

AbstractIn this study, we present the results from a systematic literature review that aimed to gather information about the writing and reading capacities of children with benign childhood epilepsy with centrotemporal spikes. This research comprises studies published between 2005 and 2016 in PubMed, Science Direct, and PsycInfo that included the keywords “benign childhood epilepsy with centrotemporal spikes”/ “rolandic epilepsy” with “written language”/ “reading” / “writing” / “literacy”/ “learning disabilities.” The study selection criteria were: (i) conducted with children with this epileptic syndrome aged between 5:11 and 16; (ii) involving children with active epilepsy or in remission; (iii) assessing written language or learning skills involving reading and writing; and (iv) published in journals with scientific refereeing. From the articles that met all the criteria defined, we compiled and synthesized the information about written language abilities. Reading problems appear to have higher incidence in this population, mostly with regard to the speed and reading accuracy and the ability to comprehend a written text. Fewer limitations were found in writing skills, but some studies showed difficulties in words writing, punctuation/ accentuation, and spontaneous writing coherence and cohesion. We also found disparities in the results regarding the relationship between writing skills and the clinical variables associated with epilepsy. Despite the heterogeneity of this population, it was possible to synthesize and define more precisely the written language variations presented. However, more concrete information is needed about written language disorders in this population, to present valid data to support clinical and pedagogical practices.