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Background: PHF21A, along with EXT2 and ALX4, is one of the causative genes of Potocki-Shaffer syndrome (PSS), a rare contiguous disorder involving chromosome region11p11.2. PHF21A has been associated with intellectual developmental disorders and craniofacial anomalies and suggested as a candidate for more extended phenotypes. However, variants in PHF21A and its associated phenotypes are yet to be fully explored, since reports on cases with variants affecting this gene are few worldwide. We present a novel heterogeneous variant in PHF21A in a 26-year-old Korean female. Methods: The patient’s clinical manifestations were recorded and physical examination, cognitive assessment, brain imaging, metabolic screening, and cytogenetic testing including whole exome sequencing were pursued. Results: Whole exome sequencing identified a de novo nonsense variant c.1171A>T (p.Lys391Ter), affecting the AT-hook domain. The patient showed an extended phenotypic spectrum along with intellectual developmental disorders and craniofacial anomalies, such as attention-deficit hyperactivity disorder, epilepsy, overgrowth, and hypotonia. Variants affecting the AT-hook domain are few in PSS, however, the phenotypic spectrum of the patient was in line with previously reported cases. Conclusion: This case further reinforced and adds to the extended data on the phenotypes associated with PHF21A haploinsufficiency.

A series of evidences harnessing the importance of early childhood development (ECD) has transformed the child health monitoring and screening tools. The development of Korean Developmental Screening Test for Infants and Children (K-DST) has expanded the applications of child health screening in a large of number of infants and children in Korea and is contributing to the early detection of neurodevelopmental disorders and timely intervention. Previous screening tool (K-ASQ) has raised some concerns, as its lack of considerations of cultural background of Korean population can lead to inaccurate or imprecise diagnosis. K-DST, which is a tailored tool to Korean infants and children, provides a simple and cost-efficient solution for child health monitoring and screening. This review focuses on the development of K-DST and the role of K-DST in ensuring ECD. We review the application of K-DST in ECD screening and consider the best strategy to transfer K-DST in other countries.

Purpose The aim of the treatment of epileptic seizures is to achieve a seizure-free state without adverse effects. The mainstays of seizure treatment are anticonvulsant medication, diet therapy, and surgery. Antiepileptic drugs and a ketogenic diet are associated with various types of medical adverse effects, including chronic kidney disease (CKD). We aimed to identify the characteristics of pediatric epilepsy patients who developed CKD and to determine the possible mechanisms. Methods We included 816 patients who underwent medical treatment for epilepsy and were followed-up for at least 3 years at a tertiary hospital. The patients were divided into CKD and non-CKD groups. The data were assessed using a multivariate Cox proportional hazards model to identify the factors associated with CKD among patients undergoing epilepsy treatment. Results Initial high serum creatinine levels (hazard ratio [HR], 13.927; P=0.010), microscopic hematuria on initial urinalysis (HR, 10.047; P=0.001), developmental delay (HR, 11.929; P=0.000), and interictal epileptiform discharges on initial electroencephalography (generalized interictal epileptiform discharges: HR, 38.395, P=0.003; focal interictal epileptiform discharges: HR, 19.252, P=0.006) were associated with increased CKD risk. Conclusion CKD was more likely to develop in patients who presented with initial kidney dysfunction and developmental delay, and was related to epilepsy itself. The abovementioned factors may increase CKD risk through decreased brain function, which may lead to decreased activity and, hence, to relatively poor hygiene and voiding function. Moreover, patients with pre-existing kidney disease were more vulnerable to CKD development.

Background The diagnostic yield of whole-exome sequencing (WES) varies from 30%–50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients has increased the total diagnostic yield by 10–15%. Here, we performed proband-only WES of 1065 patients with NDD/ID and applied a prospective, daily reanalysis automated pipeline to patients without clinically significant variants to facilitate diagnoses. Methods The study included 1065 consecutive patients from 1056 nonconsanguineous unrelated families from 10 multimedical centers in South Korea between April 2018 and August 2021. WES data were analyzed daily using automatically updated databases with variant classification and symptom similarity scoring systems. Results At the initial analysis, 402 patients from 1056 unrelated families (38.0%, 402/1,056 families) had a positive genetic diagnosis. Daily prospective, automated reanalysis resulted in the identification of 34 additional diagnostic variants in 31 patients (3%), which increased our molecular diagnostic yield to 41% (433/1056 families). Among these 31 patients, 26 were diagnosed with 23 different diseases that were newly discovered after 2019. The time interval between the first analysis and the molecular diagnosis by reanalysis was 1.2 ± 0.9 years, which was shorter in the patients enrolled during the latter part of the study period. Conclusion Daily updated databases and reanalysis systems enhance the diagnostic performance in patients with NDD/ID, contributing to the rapid diagnosis of undiagnosed patients by applying the latest molecular genetic information.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.

Background Based on the reports of low prevalence and severity of pediatric severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections, the Korean government has released new SARS-CoV-2 infection response and treatment guidelines for children under the age of 12 years. The government has further directed school reopening under strict preventive measures. However, there is still considerable concern on the impact of school reopening on community transmission of Coronavirus disease 2019 (COVID-19). In the present study, we aimed to evaluate the appropriateness of these directives and the severity of SARS-CoV-2 infections in children as compared to adults using sufficient national sample data. Methods In the present study, we evaluated the severity of SARS-CoV-2 infection in pediatric patients as compared to adults by analyzing the length of hospital stays (LOS), medical expenses, and hospital and intensive care unit (ICU) admission rates. A multivariate linear regression analysis was carried out to examine the effects of COVID-19 patients that the characteristics on the LOS and medical expenses, and multivariate logistic regression analysis were performed to identify COVID-19 characteristics that affect hospital and ICU admission rates and to prove the low SARS-CoV-2 infection severity in pediatric patients. Results The hospitalization period for children aged 0–9 was 37% shorter and that of patients aged 10–19 years was 31% shorter than those of older age groups (P < 0.001). The analysis of the medical expenses by age showed that on average, medical expenses for children were approximately 4,900 USD lower for children than for patients over 80 years of age. The linear regression analysis also showed that patients who were 0–9 years old spent 87% and those aged 10–19 118% less on medical expenses than those aged 70 and over, even after the correction of other variables (P < 0.001). The probability of hospitalization was the lowest at 10–19 years old (odds ratio [OR], 0.05; 95% confidence interval [CI], 0.03–0.09), and their ICU admission rate was also the lowest at 0.14 (OR, 0.14; 95% CI, 0.08–0.24). On the other hand, the likelihood of hospitalization and ICU admission was the highest in children aged 0–9 years, and among patients under the age of 50 years in general. Conclusion This study demonstrated the low severity of SARS-CoV-2 infection in younger patients (0–19 years) by analyzing the LOS, medical expenses, hospital, and intensive care unit admission rates as outcome variables. As the possibility to develop severe infection of coronavirus at the age of 10–19 was the lowest, a mitigation policy is also required for middle and high school students. In addition, children with underlying diseases need to be protected from high-risk infection environments., Graphical Abstract

The artificial intelligence (AI)-based genetic diagnostic program has been applied to genome sequencing to facilitate the diagnostic process. The objective of the current study was to evaluate the experience and level of satisfaction of participants using an AI-based diagnostic program for rare pediatric genetic diseases. The patients with neurodevelopmental disorders or hearing impairments, their guardians, and their physicians from 16 tertiary general hospitals were enrolled. The study period was from April 2020 to March 2021. A survey was designed to assess their experience and level of satisfaction. A total of 30 physicians and 243 patients and guardians (199 neurodevelopmental disorders and 44 hearing impairments) completed the survey. DNA samples of the subjects were collected through buccal swabs or blood collection: 211 subjects (86.8%) through buccal swab and 29 subjects (11.9%) through blood collection. Average turnaround time for result receipt was 57.54 ± 32.42 days. For the sampling method, 193 patients and guardians (81.1%) and 28 physicians (93.3%) preferred buccal swab. The level of satisfaction of the 2 groups participating in the AI-based diagnostic program was 8.31 ± 1.71 out of 10 in the patient and guardian group and 8.42 ± 1.23 in the physician group. Clinicians, patients, and guardians are satisfied with the AI-based diagnostic program in general. With an increase in AI-based precision medicine solutions, the evaluation of the user's satisfaction with appropriate provision will help improve personal health care.

Aim: To evaluate the long-term effects of nutritional improvement following percutaneous endoscopic gastrostomy (PEG) tube feeding stratified by previous feeding method and to assess the impact of underlying muscle tone on the outcomes of the nutritional intervention. Methods: Neurologically impaired children who underwent PEG tube insertion and nutritional intervention provided by a pediatric nutritional support team were enrolled. We measured anthropometric variables, laboratory parameters, and nutritional intake at baseline, 6 months after PEG insertion, and the last visit. We evaluated the percent ideal body weight (PIBW), body mass index (BMI)-for-age z-score, and percentiles and calculated the ratios of calorie intake compared to required requirement (CIR) and protein intake compared to recommended requirement (PIR). Results: The PIBW and BMI-for-age z-score improved during the first 6 months (p = 0.003 and p = 0.005, respectively). The CIR (p = 0.015) and PIR (p = 0.004) increased during the study period. The baseline BMI and PIBW of the previous nasogastric tube feeding group were better than those of the oral feeding group (p = 0.02 and p = 0.03, respectively). The BMI-for-age z-score, PIBW, CIR, and PIR improved in the hypertonic group (p = 0.03, 0.02, 0.03, and 0.01, respectively). Conclusion: PEG tube feeding and active nutritional intervention improved the nutritional status of neurologically impaired children immediately after PEG insertion. The nutritional requirements might vary by the muscle tonicity.

Background and purpose Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. Methods The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton's questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child-parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. Results The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach's alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. Conclusions The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0‐68 years) with suspected genetic disorders were subjected to whole exome sequencing. Candidate variants were identified by EVIDENCE and confirmed by testing family members and/or clinical reassessments. EVIDENCE reported a total 228 variants in 200 (60.6%) of the 330 probands. The average number of organs involved per patient was 4.5 ± 5.0. After clinical reassessment and/or family member testing, 167 variants were identified in 141 probands (42.7%), including 105 novel variants. These variants were confirmed as being responsible for 121 genetic disorders. A total of 103 (61.7%) of the 167 variants in 95 patients were classified as pathogenic or probably to be pathogenic before, and 161 (96.4%) variants in 137 patients (41.5%) after, clinical assessment and/or family member testing. Factor associated with a variant being regarded as causative includes similar symptom scores of a gene variant to the phenotype of the patient. This new, automated variant interpretation system facilitated the diagnosis of various genetic diseases with a 42.7% diagnostic yield., Schematic diagram showing the number of patients with and without variant identification and family member testing and the proportion of variant classification.

목적: 열성 경련은 생후 6개월부터 만 5세 사이 발생하는 가장 흔한 유형의 경련으로 직계 가족에서 가족력이 존재할 때 더 발생률이 높다. 열성 경련의 발생률과 외부 환경과의 영향에 대하여 아직 정확히 알려진 바가 없다. 본 연구는 열성 경련의 발생과 날씨의 연관성을 파악하기 위해 시행되었다. 방법: 본 연구는 건강보험심사평가원 자료를 바탕으로...

Purpose: Several studies have shown that magnesium plays an important role in modulating N-methyl-D-aspartate (NMDA)-related seizures by blocking NMDA...

Background: EVIDENCE, an automated variant prioritisation system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. Methods: DNA from 330 probands (age range, 0–68 years) with suspected genetic disorders were subjected to whole exome sequencing. Candidate variants were identified by EVIDENCE and confirmed by testing family members and/or clinical reassessments. Findings: EVIDENCE reported a total 245 variants in 216 (65·5%) of the 330 probands. The average number of organs involved per patient was 4·5 ± 5·0. After clinical reassessment and/or family member testing, 197 variants were identified in 172 probands (52·1%), including 116 novel variants. These variants were confirmed as being responsible for 147 genetic disorders. A total of 109 (55·3%) of the 197 variants were classified as pathogenic or likely to be pathogenic before, and 147 (74·6%) after, clinical assessment and/or family member testing. Factors associated with a variant being regarded as causative include rules, such as PVS1, PS1, PM1, PM5, and PP5, and similar symptom scores of a gene variant to the phenotype of the patient. Interpretation: This new, automated variant interpretation system facilitated the diagnosis of various genetic diseases with a 52·1% diagnostic yield. Funding: Institute for Information and Communications Technology Promotion (IITP) grant funded by the Korean government (MSIT) (2018-0-00861, Intelligent SW Technology Development for Medical Data Analysis). Competing Interest Declaration: The authors declare no conflicts of interest. Ethical Approval: The study was approved by the Institutional Review Board for Human Research of the Asan Medical Center (IRB numbers: 2018-0574 and 2018-0180).

PurposeEVIDENCE, an automated interpretation system, has been developed to facilitate the entire process of whole exome sequencing (WES) analyses. This study investigated the diagnostic yield of EVIDENCE in patients suspected genetic disorders.MethodsDNA from 330 probands (age range, 0–68 years) with suspected genetic disorders were subjected to WES. Candidate variants were identified by EVIDENCE and confirmed by testing family members and/or clinical reassessments.ResultsThe average number of overlapping organ categories per patient was 4.5 ± 5.0. EVIDENCE reported a total 244 variants in 215 (65.1%) of the 330 probands. After clinical reassessment and/or family member testing, 196 variants were identified in 171 probands (51.8%), including 115 novel variants. These variants were confirmed as being responsible for 146 genetic disorders. One hundred-seven (54.6%) of the 196 variants were categorized as pathogenic or likely pathogenic before, and 146 (74.6%) after, clinical assessment and/or family member testing. Factors associated with a variant being confirmed as causative include rules, such as PVS1, PS1, PM1, PM5, and PP5, and similar symptom scores between that variant and a patient’s phenotype.ConclusionThis new, automated variant interpretation system facilitated the diagnosis of various genetic diseases with a 51% improvement in diagnostic yield.

Purpose We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. Methods For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months. The results of the K-DST were categorized into 4 groups as follows: further evaluation (1SD). Results The test participants' population and follow-up population were concentrated before the age of 24 months (2,532, 62.3%). The children most commonly referred for further evaluation were those in the 30- to 41-month age group. A mismatch was found between the results of the K-DST and the additional questions. Most of the infants and children with suspicious developmental delays showed catch-up development in their follow-up tests (43 of 55, 78.2%). Conclusion The use of K-DST should be encouraged, especially among children aged over 24 months. Multiple-choice question format for the additional questions is recommended to avoid confusion. We suggest a nationwide study to evaluate and revise the K-DST.

Purpose Foreign body (FB) ingestion is common in children, and button battery (BB) ingestion has been increasing in recent years. This study was to identify factors related to outcomes of FB ingestion, particularly BBs in the stomach. We evaluated whether the current recommendations are appropriate and aimed to suggest indications for endoscopic removal of BB in the stomach in young children. Methods We investigated patient age, shape, size, location of FBs, spontaneous passage time and resulting complications among 76 children. We observed types, size, location of BB and outcomes, and analyzed their associations with complications. Results Coins and BB were the two most common FBs. Their shapes and sizes were not associated with the spontaneous passage time. Size, spontaneous passage time, and age were also not associated with any specific complications. For BB ingestion, all 5 cases with lithium batteries (≥1.5 cm, 3 V) presented moderate to major complications in the esophagus and stomach without any symptoms, even when the batteries were in the stomach and beyond the duodenum, while no complications were noted in 7 cases with alkaline batteries (

Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD and PD, we performed gene mutation and sulfatide analyses by using dried blood spots (DBSs) from seven Korean individuals who underwent an analysis of ARSA activity. DNA was extracted from DBSs, and PCR-direct sequencing of ARSA was performed. The cDNA obtained was analyzed to confirm a novel mutation. Of the seven subjects, three were confirmed as having MLD, one was confirmed as having MLD-PD, one was confirmed as having PD, and the remaining two were obligate heterozygotes. We verified the novel pathogenic variant c.1107+1delG by performing familial and cDNA analyses. Sulfatide concentrations in DBSs were analyzed and were quantified by using ultra-performance liquid chromatography and tandem mass spectrometry, respectively. Total sulfatide concentration was inversely correlated with ARSA activity (Spearman's coefficient of rank correlation, P=0.929, P=0.0025). The results of this mutational and biochemical study on MLD will increase our understanding of the genetic characteristics of MLD in Koreans.

OBJECTIVE: Perinatal hypoxic-ischemic encephalopathy (HIE) and prolonged febrile seizures (pFS) are common neurologic problems that occur during childhood. However, there is insufficient evidence from experimental studies to conclude that pFS directly induces hippocampal injury. We studied cognitive function and histological changes in a rat model and investigated which among pFS, HIE, or a dual pathologic effect is most detrimental to the health of children. METHODS: A rat model of HIE at postnatal day (PD) 7 and a pFS model at PD10 were used. Behavioral and cognitive functions were investigated by means of weekly open field tests from postnatal week (PW) 3 to PW7, and by daily testing with the Morris water maze test at PW8. Pathological changes in the hippocampus were observed in the control, pFS, HIE, and HIE+pFS groups at PW9. RESULTS: The HIE priming group showed a seizure-prone state. The Morris water maze test revealed a decline in cognitive function in the HIE and HIE+pFS groups compared with the pFS and control groups. Additionally, the HIE and HIE+pFS groups showed significant hippocampal neuronal damage, astrogliosis, and volume loss, after maturation. The pFS alone induced minimal hippocampal neuronal damage without astrogliosis or volume loss. CONCLUSION: Our findings suggest that pFS alone causes no considerable memory or behavioral impairment, or cellular change. In contrast, HIE results in lasting memory impairment and neuronal damage, gliosis, and tissue loss. These findings may contribute to the understanding of the developing brain concerning conditions caused by HIE or pFS.

Respiratory syncytial virus (RSV) is a common pathogen causing acute respiratory infection in children. Herein, we describe the incidence and clinical and magnetic resonance imaging (MRI) findings of RSV-related encephalitis, a major neurological complication of RSV infection.We retrospectively reviewed the medical records and imaging findings of the patients over the past 7 years who are admitted to our medical center and are tested positive for RSV-RNA by reverse transcriptase PCR. In total, 3,856 patients were diagnosed with RSV bronchiolitis, and 28 of them underwent brain MRI for the evaluation of neurologic symptoms; 8 of these 28 patients had positive imaging findings. Five of these 8 patients were excluded because of non-RSV-related pathologies, such as subdural hemorrhage, brain volume loss due to status epilepticus, periventricular leukomalacia, preexisting ventriculomegaly, and hypoxic brain injury.The incidence of RSV-related encephalitis was as follows: 3/3,856 (0.08 %) of the patients are positive for RSV RNA, 3/28 (10.7 %) of the patient underwent brain MRI for neurological symptom, and 3/8 (37.5 %) of patients revealed abnormal MR findings. The imaging findings were suggestive of patterns of rhombenmesencephalitis, encephalitis with acute disseminated encephalomyelitis, and limbic encephalitis. They demonstrated no diffusion abnormality on diffusion-weighted image and symptom improvement on the follow-up study.Encephalitis with RSV bronchiolitis occurs rarely. However, on brain MRI performed upon suspicion of neurologic involvement, RSV encephalitis is not infrequently observed among the abnormal MR findings and may mimic other viral and limbic encephalitis. Physicians should be aware of this entity to ensure proper diagnosis and neurologic care of RSV-positive patients.

We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immediately before and again at three times after the hypoxia-ischemia (pre-treatment group), and immediately after and three times again after hypoxia-ischemia (post-treatment group), the rats were intraperitoneally injected with HPE (0.1, 0.25, or 0.5 mL/10 g/dose). No-treatment rats received saline only. On postnatal day 12, brains were removed and gross morphological damage was evaluated. To quantify the severity of brain injury, bilateral cross-sectional areas of the anterior commissural and posterior hippocampal levels were analyzed with NIH Image. Assessments of the open field activity levels at 2, 4, 6 and 8 week and, the Morris water maze test at 8 weeks after hypoxia-ischemia were carried out according to standard methods. HPE pre-treatment decreased the incidence of liquefactive cerebral infarction, at an optimally neuroprotective dose of 0.5 mL/10 g/dose (P

Background Benign convulsions with gastroenteritis (CwG) are defined as afebrile convulsions accompanying symptoms of gastroenteritis without evidence of laboratory derangement. Although the main pathogen has been known as rotavirus, since the introduction of rotavirus vaccine, associated viruses with CwG may have changed. Thus, we evaluated the viral association of CwG for patients admitting for recent 2.5 years. Methods All patients hospitalized for CwG between November 2012 and May 2015 were included in our study. Stool specimens were tested with reverse transcription polymerase chain reaction for detecting norovirus and astrovirus and with enzyme immunoassay for rotavirus and enteric adenovirus. Clinical data was gathered via chart review. Results Fifty patients were included. Except four patients who failed to collect stool samples, 46 patients were tested. Causative diarrheal viruses were detected in 38 patients and they were 29 norovirus, four rotavirus, four adenovirus, and one astrovirus. Norovirus was commonly identified during the months of November and December. No difference of the clinical characteristics and laboratory value was noted according to the number of seizure episodes. Conclusions Norovirus is a common pathogen in CwG. Understanding the viral associations can facilitate recognition of CwG.

Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days. During video-monitored EEG and echocardiography (ECG), she showed multiple myoclonic seizures simultaneously or independently, as well as frequent sinus pauses. After treatment with valproic acid, myoclonus and generalized tonic seizures were well controlled and only 2 sinus pauses were seen on 24-hour Holter ECG monitoring. Sinus dysfunction should be recognized on EEG, and it can sometimes be treated successfully with only antiepileptic medication.

Objectives Recently, conflicting results have been reported regarding the necessity of routine lumbar puncture in children less than 12 months of age with simple febrile seizure. The aims of this study were to evaluate the results of lumbar puncture in children younger than 60 months of age with febrile seizure and to reassess the need for lumbar puncture in children younger than 12 months with simple febrile seizure. Methods A retrospective chart review was performed in patients younger than 60 months who presented with febrile seizure and underwent lumbar puncture from January 2005 to January 2015. Results A total of 1249 patients presenting with febrile seizure were admitted. Of these, 816 met inclusion criteria for presenting with simple febrile seizure. Lumbar puncture was performed in 75 patients (9.2%; age, mean ± SD, 12.05 ± 9.13 months; male/female, 31/44), who were reviewed. Sixty-six (88.0%) of 75 patients were younger than 12 months. Five patients (6.7%) showed pleocytosis in cerebrospinal fluid, and 4 of them were younger than 1 year of age. Three patients (4.0%) had bacterial meningitis and were 4, 8, and 12 months. Streptococcus pneumoniae (2 patients) and Klebsiella pneumoniae (1 patient) were isolated in cerebrospinal fluid. Nobody had neurologic signs suggesting bacterial meningitis, and all of them completed scheduled immunizations and were up-to-date. Conclusion Lumbar puncture should be considered in every child younger than 12 months of age with a simple febrile seizure owing to lack of abnormal neurologic sign even if immunization is up-to-date.

PurposeWe conducted a prospective, multicenter, open label trial to evaluate the effectiveness of oxcarbazepine (OXC) oral suspension as monotherapy for children newly diagnosed with partial seizures.MethodsThis trial included a two- to eight-week titration and stabilization period to achieve effective target doses and a 24-week maintenance phase. The primary outcome measure was the seizure-free rate over six months, while a secondary measure was the change in cognition and behavior from screening to the end of the maintenance phase. The effectiveness of OXC was compared in intellectually normal versus intellectually impaired children (intelligence quotient

It is well-known that the prevalence of attention deficit hyperactivity disorder (ADHD) is higher in epileptic children than in the general pediatric population. The aim of this study was to compare the accompaniment of ADHD in epileptic children with well-controlled seizures and no significant intellectual disability with that in healthy controls. We included epileptic children between the ages of 6 and 12 yr visiting our clinic for six consecutive months and controls without significant medical or psychiatric illnesses. We excluded patients with intellectual disability or persistent seizures during the recent three months. The diagnosis of ADHD was based on the criteria of the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV). After exclusion of 84 patients, we enrolled 102 (54.8%) children (mean age, 9.4 ± 2.0 yr). Seven (7 of 102, 6.9%) were diagnosed with ADHD. As compared to control group (4 of 110, 3.6%), there was no difference in ADHD accompaniment (P = 0.29). No difference was observed in ADHD accompaniment according to seizure type and epilepsy syndrome. In conclusion, the accompaniment of ADHD in epileptic children with well-controlled seizures and no intellectual disability may not differ from that of the general pediatric population.

Objectives.— To determine the 1-year prevalence of headache and clinical characteristics of primary headaches among school children in South Korea. Background.— Many population-based studies have estimated the 1-year prevalence of headache, migraine, and tension-type headache (TTH). The results of those studies vary in terms of race and region. There have been few epidemiological population-based studies of headache in children and adolescents in Korea. Methods.— We conducted a cross-sectional school-based study of a randomized and proportional sample of 5360 boys and girls. All 180 sampled schools participated in this study. The questionnaires collected demographic data in addition to specific questions about headache according to the International Classification of Headache Disorder criteria, 2nd Edition. Valid questionnaires were returned by 94.1% of the sample population. Modified criteria changed the “duration” of migraine (>1 hour instead of 4 hours). Results.— The prevalence of headache among school children was 29.1% (1465/5039) in South Korea. The prevalence of headache in girls (33.4%) was significantly higher than in boys (24.4%) (P