Background and aimThe Coronavirus Disease 2019 (COVID-19) pandemic has significantly impacted pediatric health. Although numerous studies in China have reviewed childhood diseases, specific patterns in certain regions still require more detailed analysis. This was a single-center retrospective study conducted at the Fifth People's Hospital of Wujiang District, Suzhou, Jiangsu, China. It aims to compare the characteristics of pediatric outpatient visits from 2016 to 2019 (pre-pandemic) and 2020 (pandemic), providing insights into how childhood disease patterns have evolved during and after the pandemic.MethodsWe conducted a retrospective analysis to collect routine administrative data on children from outpatient departmentsResultsA total of 236,977 visits in outpatient children were recorded, with the highest proportion of visits occurring in 2017 (24.5%) and the lowest in 2020 (11.3%). Changes in visit numbers were mainly associated with fluctuations in respiratory diseases (59.1%). The proportions of respiratory and infectious diseases varied across different years, with the highest proportions observed in 2019 (25.5% and 59.4%, respectively). There was a consistent higher prevalence of male children compared to their female counterparts in terms of demographic characteristics, with a ratio ranging from 1.2 to 1.3. The largest proportion of outpatient visits was observed among preschool-aged children (32.5%), followed by toddlers (26.0%) and school-age children (20.2%). Notably, the fourth quarter consistently had the highest number of visits (30.5%), while the third quarter exhibited the lowest visit numbers (20.0%). Fever (68.6%) was the most frequently reported symptom in outpatient visits with abnormal symptoms and signs.ConclusionsThis study highlights the impact of the COVID-19 pandemic on outpatient visits among children in Wujiang District, Suhzou, revealing a downward trend in 2020 compared to previous years. Notably, respiratory diseases remained the most common reason for outpatient visits, with distinct demographic patterns observed. These findings may help inform local healthcare planning and resource allocation in similar settings.

Importance: Epilepsy is a chronic neurological condition affecting individuals across all ages, with the highest incidence observed in children younger than 1 year. Recurrent seizures and their associated physical and psychological consequences can result in significant morbidity and mortality. Objective: To examine global trends in the incidence, mortality, and disability-adjusted life-years (DALYs) associated with idiopathic childhood epilepsy across four age groups (<1 year, 1–4 years, 5–9 years, and 10–14 years), using data from the 2021 Global Burden of Disease (GBD) study. Design, Setting, and Participants: This cross-sectional study analyzed data from the GBD 2021 dataset, which included information from 204 countries and territories. The study focused on children aged 0 to 14 years diagnosed with idiopathic epilepsy. Data were analyzed from October 16, 2024, to December 18, 2024. Exposure: Age groups (<1 year, 1–4 years, 5–9 years, and 10–14 years) and childhood epilepsy trends from 1990 to 2021. Main Outcomes and Measures: Incidence, mortality, DALYs, and corresponding estimated annual percentage changes (EAPCs), stratified by age, sex, region, country, and Sociodemographic Index (SDI). Results: A total of 6,095,770 children (3255634 male [53.41%]) were included in the analysis. The global incidence of idiopathic childhood epilepsy increased from 971,368 cases in 1990 to 1,227,191 cases in 2021. Over three decades, the incidence rate rose from 55.85 (95% uncertainty interval [UI], 35.89–78.70) to 61.00 (95% UI, 39.09–86.21) per 100,000 population, with the highest rates among children younger than 1 year. Despite the increased incidence, epilepsy-associated death rates declined from 1.48 (95% UI, 1.01–1.78) to 0.90 (95% UI, 0.69–1.06), and DALYs rates decreased from 240.82 (95% UI, 178.96–310.79) to 177.17 (95% UI, 134.25–236.27). Regionally, the highest incidence of childhood epilepsy was observed in Andean Latin America (93.64; 95% UI, 45.06–150.38), while East Asia had the lowest incidence (38.50; 95% UI, 23.17–57.98). Eastern Sub-Saharan Africa reported the highest epilepsy-associated mortality rate (2.06; 95% UI, 1.56–2.59) and DALYs rate (306.53; 95% UI, 228.15–407.97). East Asia experienced the largest reduction in the DALYs rate (EAPC, −3.18; 95% CI, −3.27 to −3.10). Among 204 countries, Equatorial Guinea had the highest national incidence of childhood epilepsy in 2021 (116.66; 95% UI, 30.93–209.57), Tajikistan had the highest epilepsy-associated mortality rate (2.77; 95% UI, 1.84–4.08), and Zambia had the highest DALYs rate (403.33; 95% UI, 235.24–637.11). In 2021, the low SDI region had the highest epilepsy-associated mortality rate (1.46; 95% UI, 1.07–1.80) and DALYs rate (244.53; 95% UI, 179.90–327.46). Conclusions and Relevance: Childhood epilepsy remains a growing global health concern, particularly among children younger than 1 year, with increasing incidence rates. Although global declines in mortality and DALYs were observed, the burden remains disproportionately high in low SDI regions. Enhanced understanding of childhood epilepsy's epidemiology may inform strategies for prevention and management.

This was a prospective, randomized, double-blind, single-center placebo-controlled trial to assess the efficacy and safety of melatonin as an add-on treatment for infantile epileptic spasms syndrome (IESS). Participants aged 3 months to 2 years with a primary diagnosis of IESS were recruited and assigned to two groups in a 1:1 ratio. Both treatment groups received a combination of adrenocorticotrophic hormone (ACTH) and magnesium sulfate (MgSO4 ) for 2 weeks, and the treatment group also received melatonin (3 mg) between 20:00 and 21:00 daily, 0.5-1 h before bedtime. The study's primary endpoint was the average reduction rate in spasm frequency assessed by seizure diaries. Secondary endpoints included assessment of the response rate, EEG hypsarrhythmia (Kramer score), and psychomotor development (Denver Developmental Screening Test, DDST). Sleep quality was assessed by using the Brief Infant Sleep Questionnaire (BISQ), the Infant Sleep Assessment Scale (ISAS), and actigraphy. Safety parameters were also evaluated. Statistical analyses were conducted on intention-to-treat and per-protocol populations. The trial is registered at Clinicaltrials.gov (ChiCTR2000036208). Out of 119 screened patients, 70 were randomized and 66 completed treatments. In the intention-to-treat population, there were no significant differences in the average percentage reduction of spasm frequency (median [interquartile range, IQR: Q3-Q1], 100% [46.7%] vs. 66.7% [55.3%], p = .288), the 3-day response rate (51.4% vs. 37.1%, p = .229), the 28-day response rate (42.9% vs. 28.6%, p = .212), EEG Kramer scores (2 [3.5] vs. 2 [3], p = .853), or DDST comprehensive months (5 [2.5] vs. 6 [6], p = .239) between the melatonin (n = 35) and placebo (n = 35) groups. However, caregivers reported improved sleep quality after melatonin treatment, with 85.7% reporting regular sleep compared to 42.9% with placebo (42.9%, p < .001). The melatonin group had lower ISAS scores in 4-11-month-old patients compared to the placebo (mean ± SD, 29.3 ± 4.4 vs. 35.2 ± 5.9, p < .001). Moreover, the median (IQR) value of sleep-onset latency was shortened by 6.0 (24.5) min after melatonin treatment, while that in the placebo group was extended by 3.0 (22.0) min (p = .030). The serum melatonin (6:00 h) level (pg/mL) of the children in the melatonin group after treatment was significantly higher than in the placebo group (median [IQR], 84.8 [142] vs. 17.5 [37.6], p < .001). No adverse effects related to melatonin were observed in the study, and there were no significant differences in adverse effects between the melatonin and placebo groups. Although not statistically significant, the results of this randomized clinical trial proved that melatonin supplementation, as an add-on treatment, can improve spasm control rate in the treatment of IESS. For IESS children treated with ACTH, the addition of melatonin was found to improve sleep quality, shorten sleep onset latency, and increase blood melatonin levels. Moreover, it was observed to be a safe treatment option.

Infantile epileptic spasms syndrome (IESS) is an age-specific and severe epileptic encephalopathy. Although adrenocorticotropic hormone (ACTH) is currently considered the preferred first-line treatment, it is not always effective and may cause side effects. Therefore, seeking a reliable biomarker to predict the treatment response could benefit clinicians in modifying treatment options. In this study, the complexities of electroencephalogram (EEG) recordings from 15 control subjects and 40 patients with IESS before and after ACTH therapy were retrospectively reviewed using multiscale entropy (MSE). These 40 patients were divided into responders and nonresponders according to their responses to ACTH. The EEG complexities of the patients with IESS were significantly lower than those of the healthy controls. A favorable response to treatment showed increasing complexity in the γ band but exhibited a reduction in the β/α-frequency band, and again significantly elevated in the δ band, wherein the latter was prominent in the parieto-occipital regions in particular. Greater reduction in complexity was significantly linked with poorer prognosis in general. Occipital EEG complexities in the γ band revealed optimized performance in recognizing response to the treatment, corresponding to the area under the receiver operating characteristic curves as 0.8621, while complexities of the δ band served as a fair predictor of unfavorable outcomes globally. We suggest that optimizing frequency-specific complexities over critical brain regions may be a promising strategy to facilitate predicting treatment response in IESS.

患者女,8岁,因"间断抽搐2年余,语言倒退17个月余"于2019年9月17日收入解放军总医院第一医学中心.患儿于2017年9月初无明显诱因出现夜间睡眠时(多在凌晨3时后)抽搐,表现为双眼向左斜视和左侧口角抽搐,无肢体抽搐,无大小便失禁,持续1～2 min后缓解,发作后思睡;有时睡醒后头痛,无呕吐.就诊于开封市中心医院(未见门诊病历,具体不详),2017年9月4日脑电脑报告异常脑电图,诊断"癫痫"(epilepsy,EP),2017年9月7日予丙戊酸钠片半片(0.1g),口服2次/d,此后每月发作1～2次,表现同前.

Objective:To explore new methods to assist the diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1-DS).Methods:Sixteen children with epilepsy and/or movement disorder carrying the SLC2A1 mutation who admitted to Department of Pediatrics, the First Medical Center, Chinese People′s Liberation Army General Hospital and Department of Nutrition, Shanghai Deji Hospital from October 2019 to October 2020 were retrospectively analyzed.GLUT1-DS was diagnosed based on clinical phenotype, glucose level in CSF and/or genetic testing results.Forty-four healthy children who underwent physical examination in the First Medical Center, Chinese People′s Liberation Army General Hospital during the same period were selected as healthy control group.Glucose transporter 1 (GLUT1) level on the membrane surface of peripheral red blood cells and erythrocyte glucose uptake rate were measured by flow cytometry and glucose oxidase method, respectively.Their differences between groups were compared by the rank sum test.The receiver operating cha-racteristic (ROC) curve was plotted to assess their diagnostic value. Results:Sixteen children were diagnosed as GLUT1-DS.GLUT1 levels of 16 children with GLUT1-DS were significantly lower than those of healthy control group [17.96% (13.43%, 22.12%) vs.27.93% (24.76%, 34.30%), Z=5.249, P<0.001]. Area under curve (AUC) was 0.946, and weighted Kappa was 0.791 ( P<0.001). The erythrocyte glucose uptake was measured in 12 children with GLUT1-DS, which was significantly lower than that of healthy control group [23.14% (14.80%, 26.45%) vs.27.40% (24.61%, 32.82%), Z=2.366, P=0.018]. AUC and weighted Kappa were 0.724 and 0.344, respectively ( P<0.001), showing a poor consistency. Conclusions:GLUT1 level on the surface of human erythrocyte membrane measured by flow cytometry may be a new method to assist the diagnosis of GLUT1-DS.The erythrocyte glucose uptake rate test requires stricter experimental conditions and needs further investigation.

Introduction Infantile spasms (IS) is a type of severe epileptic encephalopathy that occurs in infancy and early childhood. IS is characterised clinically by epileptic spasms, often accompanied by sleep disorder and abnormal circadian rhythm. The endogenous circadian rhythm disorder, in turn, can make spasms worse. Melatonin has also been found to have anticonvulsant and neuroprotective properties by adjusting the circadian rhythm. However, there are lack of relevant studies on controlling IS by using melatonin. This study aims to analyse the therapeutic effect of melatonin supplementation for the treatment of IS. Methods and analysis This is a triple-blinded (trial participant, outcome assessor and the data analyst), prospective, randomised controlled trial to be conducted in the Department of Paediatrics, The First Medical Center of Chinese PLA General Hospital, Beijing, China from November 2020. Patients (n=70) aged 3 months to 2 years with IS will be recruited in this study after receiving written consent from their parents or guardians. Patients will be randomly divided into two equal groups and treated with a combination of adrenocorticotropic hormone, magnesium sulfate and either melatonin or placebo. Clinical data from the patients in the two groups before and after the treatment will be collected and compared. The primary outcome will be assessed 2 weeks later by seizure diaries and reported as the average reduced rate of spasms frequency. Secondary outcomes include the response rate (the rate of spasms-free), electroencephalogram hypsarrhythmia assessment and the psychomotor development assessment (Denver Developmental Screening Test). Sleep quality and safety will also be assessed. Ethics and dissemination The protocol for this study was approved by the Ethics Committee of Chinese PLA General Hospital (reference number S2020-337-01) and was reported according to the Standard Protocol Items: Recommendations for Interventional Trials statement. Findings of this research will be disseminated through national and international meetings, conferences and peer-reviewed journals. Trial registration number ChiCTR2000036208.

Objective To investigate the genotypic and phenotypic characteristics of children with inosine triphosphate pyrophosphatase（ITPA）-related developmental and epileptic encephalopathy type 35 and review the related literatures and previous studies.Methods The clinical data, auxiliary examination, treatment and follow-up results of one child with ITPA-related developmental and epileptic encephalopathy type 35 were retrospectively analyzed.Literatures were reviewed.Results The child in this study was a 2-month-old girl.Her main clinical manifestations included convulsive seizures in the neonatal period.Electroencephalogram（EGG） showed interictal epileptiform discharges in the bilateral middle temporal region and left occipital region.Trio-whole-exome sequencing revealed that her ITPA was a compound heterozygous ITPA variant which was a newly reported variant.During the follow-up period, the girl gradually exhibited global developmental delay, microcephaly, thinning of the corpus callosum, brain atrophy and cataract, etc.The girl was diagnosed as developmental and epileptic encephalopathy type 35.Including this case, a total of 14 patients with ITPA-related epilepsy have been reported so far, among which, 8 males and 6 females.There were 2 patients with compound heterozygous mutation and 12 patients with homozygous mutation.Most of the children have onset in infancy, and they all showed global developmental delay, epileptic seizures, microcephaly, etc.Additionally, they were accompanied by specific brain imaging changes.Most of them had intractable epilepsy, and almost all patients were dead in infancy or early childhood.Conclusion ITPA-related developmental and epileptic encephalopathy type 35 has early seizure onset and poor prognosis.Except for drug refractory epilepsy, it is often accompanied by global developmental delay and specific brain imaging abnormalities.It is worthy of clinical attention.

背景 视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)是一种主要累及视神经和脊髓的中枢神经系统炎性脱髓鞘疾病谱,其病因主要与水通道蛋白4抗体(aquaporin-4 immunoglobulin-G,AQP4-IgG)及髓鞘少突胶质糖蛋白抗体(myelin oligodendrocyte glycoprotein immunoglobulin-G,MOG-IgG)有关.儿童NMOSD的发病率远远低于成人,且从临床特点不同,当前关于儿童NMOSD的相关研究较少.目的 比较AQP4-IgG阳性与MOG-IgG阳性的儿童NMOSD的临床表现、影像学特点及预后,为儿童NMOSD提供诊疗思路.方法 选取2008年1月-2021年7月在解放军总医院第一医学中心就诊的18例AQP4-IgG阳性患儿和17例MOG-IgG阳性患儿为研究样本(起病年龄2～18岁),总结分析患儿临床资料、扩展残疾状态量表(expanded disability status scale,EDSS)、年复发率(annualized relapse rate,ARR)、影像学特点.结果 AQP4-IgG阳性患儿的女性占比较MOG-IgG阳性患儿高(14/18 vs 8/17),但差异无统计学意义(P>0.05).MOG-IgG组较AQP4-IgG组更容易表现为双眼视力下降(14/17 vs 7/18,P=0.015),而AQP4-IgG组更容易出现单眼或双眼无光感的情况(9/18 vs 0/17,P=0.01).AQP4-IgG组更容易合并抗核抗体阳性(5/18 vs 0,P=0.045).MOG-IgG组较AQP4-IgG组颅内病灶更多(17/17 vs 8/18,P<0.001).在病程最严重时两组患儿的EDSS中位数[3.0(4.0,5.0)vs 3.0(4.0,5.0)]差异无统计学意义,但末次随访时MOG-IgG组EDSS评分明显低于AQP4-IgG组[1.0(1.0,2.0)vs 5.0(4.0,5.0),P<0.001].结论 MOG-IgG阳性的NMOSD患儿更易出现双侧视力下降、颅脑病灶和大脑综合征,但预后相对较好.

Background The intestinal flora (IF) regulates brain function via the neuroendocrine and neuroimmune systems and influences the development of several neuropsychiatric diseases, including epilepsy. Here, we investigated the specific relationship between the IF and infantile spasms (IS), a specific form of epilepsy. Methods Twenty-three children suffering from IS were recruited from the Chinese PLA General Hospital. According to patient response to adrenocorticotropic hormone (ACTH) treatment, the cohort was subdivided into 2 groups: an ACTH-response group and an ACTH-no response (NR) group. A total of 21 healthy children were recruited as a control group (healthy controls: HCs) during the same time period. Fecal samples were collected from infants in the IS and HC groups, and the population of fecal microorganisms was analyzed by 16s ribosomal DNA sequencing. The α and β diversity of the fecal microflora was determined, and the relative abundance of each species was classified. Tax4Fun2 was used to analyze the metabolic pathways utilized by the microflora, and the Kyoto Encyclopedia of Genes and Genomes database was used to analyze differentially expressed genes and pathways. Results No significant differences existed in α or β diversity when compared between the IS and HC groups, nor between the ACTH-response and ACTH-NR groups which were separated before and after ACTH treatment. Although there was no significant difference between the ACTH-response and ACTH-NR groups with respect to α diversity, there was a significant difference in β diversity. Compared with that of the HCs, the IF of the IS group featured lower proportions of Lactobacillus, Roseburia, and Lachnospira, and a higher proportion of Clostridium. In the IS group, the proportion of Staphylococcus in the IF was higher before treatment than after treatment. Compared with the ACTH-NR group, the ACTH-response group had reduced populations of Odoribacter, Phascolarctobacterium, Anaerotruncus, Mitsuakella, and Robinsoniella. However, an increase was observed in the population of Bifidobacterium. A significant difference was also identified between the IS and HC groups with regard to the expression levels of genes associated with lipoic acid synthesis. Conclusions Our analysis demonstrated that imbalance of the IF may be involved in the pathogenesis of IS and is related to response to ACTH. Regulating the composition of the IF may pave the way to developing a potential adjuvant therapy for patients with IS.

BackgroundVagus nerve stimulation (VNS) has been demonstrated to be safe and effective for patients with refractory epilepsy, but there are few reports on the use of VNS for postencephalitic epilepsy (PEE). This retrospective study aimed to evaluate the efficacy of VNS for refractory PEE.MethodsWe retrospectively studied 20 patients with refractory PEE who underwent VNS between August 2017 and October 2019 in Chinese PLA General Hospital and Beijing Children’s Hospital. VNS efficacy was evaluated based on seizure reduction, effective rate (percentage of cases with seizure reduction ≥ 50%), McHugh classification, modified Early Childhood Epilepsy Severity Scale (E-Chess) score, and Grand Total EEG (GTE) score. The follow-up time points were 3, 6, and 12 months after VNS. Pre- and postoperative data were compared and analyzed.ResultsThe median [interquartile range (IQR)] seizure reduction rates at 3, 6, and 12 months after VNS were 23.72% (0, 55%), 46.61% (0, 79.04%), and 67.99% (0, 93.78%), respectively. The effective rates were 30% at 3 months, 45% at 6 months, and 70% at 12 months. E-chess scores before the operation and at 3, 6, and 12 months after the operation were 10 (10, 10.75), 9 (9, 10), 9 (9, 9.75), and 9 (8.25, 9) (P < 0.05), respectively. GTE scores before surgery and at 12 months after the operation were 11 (9, 13) and 9 (7, 11) (P < 0.05), respectively. The mean intensity of VNS current was 1.76 ± 0.39 (range: 1.0–2.5) mA. No intraoperative complications or severe post-operative adverse effects were reported.ConclusionsOur study shows that VNS can reduce the frequency and severity of seizure in patients with refractory PEE. VNS has a good application prospect in patients with refractory PEE.

PURPOSE:Viral encephalitis (VE) or bacterial meningoencephalitis (BME) in early childhood may cause brain injury and neurological sequelae, including epilepsy. Postencephalitic epilepsy (PEE) characterized by epileptic spasms (ES) is a rare but serious condition; there is an urgent need to develop new methods to evaluate the characteristics of these children and select appropriate treatments.METHODS:We conducted an observational study of 20 patients (11 males, 9 females) who experienced ES after VE or BME at the Chinese PLA General Hospital. Patients were followed up for over 12 months, and outcomes were analyzed.RESULTS:The median ages at the onset of encephalitis and ES were 5.5 and 11.5 months, respectively. The median age at follow-up was 35.5 months. Sixteen (80 %) patients developed drug-resistant epilepsy (DRE), including all 12 patients with VE and 4 of 8 patients with BME. Epileptiform discharges were detected on electroencephalography, including 15 patients with hypsarrhythmia and 5 without. Fifteen of the patients were treated with a 14-day intravenous infusion of adrenocorticotropic hormone (ACTH) at a dose 2.5 U/kg (≤25 U); 12 showed a short-term response but 10 experienced recurrence. Three patients received vigabatrin, and none of these patients responded to treatment. Six patients started a ketogenic diet (KD); five failed to respond and the outcome was not known in one. Four patients were treated by vagus nerve stimulation (VNS), and all showed a partial response.CONCLUSION:Children with PEE characterized by ES are more likely to develop DRE. The prognosis was worse for patients with VE compared to those with BME. Clarifying the efficacies of treatments involving ACTH (low-dose), KD, vigabatrin, and VNS will require further investigation.

The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and infantile spasms (IS). The association between phenotype and genotype of NPRL2 variants has not been widely explored. This study aimed to explore the phenotype and genotype spectrum of NPRL2-related epilepsy. Here, we presented two clinical cases with NPRL2-related epilepsy, and discussed the characteristics, diagnosis, and treatment processes in the context of existing literature. Two novel NPRL2 likely pathogenic variants were identified by next-generation sequencing, including one splicing mutation (c.933-1G>A), and one frameshift mutation (c.257delG). The results of literature review showed that there were a total of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary. These findings indicate that the possibility of NPRL2 gene mutations in focal epilepsy should be considered for patients with family history, and that patients carrying different NPRL2 variants have different clinical manifestations. Our study expanded the genotype spectrum of NPRL2 and suggested that the type of NPRL2 variants might provide important information for the prognosis evaluation.

Infantile spasm is the most common epileptic encephalopathy in infancy.Without early diagnosis and effective treatment, serious consequences and economic burden maybe caused.One of the main characteristics of infantile spasm is the hypsarrhythmia on electroencephalography (EEG). It is important to analyze EEG accurately and reliably by scoring EEG.In order to further improve the EEG scoring system and better play the role of EEG in the diagnosis, treatment and prognosis implications of infantile spasm, in this paper, the advantages and disadvantages of various EEG scoring systems were analyzed, so as to provide clues by summarizing current EEG scoring systems and their applications in clinical practices.

Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS to enhance the understanding of clinical manifestations and genetic alterations associated with MCHS. Method: Seven patients (6 females and 1 male, aged between 2 years 5 months and 6 years) who had MEF2C mutations, and their parents underwent trio-based whole-exome sequencing; subsequently, their clinical features were assessed. A literature review of patients with MCHS was performed by searching the PubMed and Online Mendelian Inheritance in Man databases. Results: Seven mutations were identified, of which six were unreported in the past; of the reported cases, five patients had de novo mutations but two had an undefined inheritance pattern. All patients presented delays in developmental milestones, severe intellectual disabilities and lack of speech. Six patients exhibited infantile hypotonia, five patients experienced stereotypic movements and were unable to walk, four patients exhibited poor eye contact indicative of autism and two showed poor performance. While six patients experienced seizure, five among them became seizure free after receiving anti-seizure medicine. Three patients showed a regression in their development, whereas the mothers of two patients exhibited mosaicism but were healthy without any abovementioned symptoms. Interpretation: Regression was not a common phenomenon but occurred in MCHS. The prognosis of MCHS patients with epilepsy was good, but most patients can achieve a seizure-free status. Healthy people may have low-level mosaicism and carry a pathogenic MEF2C mutation.

1 病例资料 4例MEF2C单倍剂量不足综合征患儿的主要临床资料见表1. 例1,女,2岁9月龄,因"自幼精神运动发育落后、间断抽搐1年余"就诊.患儿自幼精神运动发育落后,自生后即肌张力减低,6月龄抱起无法竖头,1岁2月龄时有刻板行为,喜摇头、玩手、磨牙,对外界反应较差,与人对视差,头颅MR提示异常.

Infantile spasms (IS) is a serious epileptic syndrome that frequently occurs in infancy. Adrenocorticotropic hormone (ACTH) is generally the first-line treatment for IS; however, side effects limit its application. Melatonin (MT) has been used in clinical treatment for sleep disorders with only minor side effects. Further, MT was shown to be a powerful anticonvulsant in an animal model of epilepsy. In this research, we aimed to compare the anticonvulsant efficacy of ACTH and/or MT for treatment of IS and explore the mechanisms underlying the anticonvulsant activity of MT, using an N-methyl-d-aspartate (NMDA)-induced IS model in neonatal rats following exposure to prenatal stress. Latency to the onset of spasms and the total number of spasms were recorded to assess spasm severity. Treatment with ACTH and/or MT significantly reduced the number of spasms and prolonged the latency period. Additionally, expression of GR-α, HDAC2, BNDF, TrkB, and C-Cbl were significantly increased by induction with NMDA, and this effect was reversed by ACTH and/or MT treatment. Hence, our data suggest that combined ACTH and MT treatment is effective for reducing the number of spasms and increasing the latency period in NMDA rats, by restoring dysregulation of the HPA axis. These findings have the potential to provide a new strategy for the treatment of IS.

目的 探索注意缺陷多动障碍(ADHD)患儿肠道菌群分布特征,以及肠道菌群在其发病过程中的可能作用及其机制.方法 采用病例对照研究方法,2019年1月至2019年6月选取6～12岁ADHD患儿17例,并征集同年龄健康儿童17例为对照,进行粪便菌群的宏基因组测序及分析,比较组间菌群α多样性及物种分类(属、种)的相对丰度等差异.结果 ADHD患儿与对照组肠道菌群的α多样性差异无统计学意义(P>0.05).在菌属水平上,ADHD患儿的粪肠杆菌属Facelibacterium及韦荣球菌属Veillonellaceae丰度降低,气味杆菌属Odoribacter丰度增高,差异均有统计学意义(P<0.05).肠球菌属Enterococcus增高,差异有统计学意义(LDA>2).在菌种水平上,ADHD患儿普氏栖粪杆菌Faecalibacterium prausnitzii、毛螺科菌Lachnospiraceae bacterium以及活泼瘤胃球菌Ruminococcus gnavus丰度降低,而粪拟杆菌Bacteroides caccae、内脏拟杆菌Odoribacter splanchnicus、木假单胞菌Paraprevotella xylaniphila以及小韦荣球菌Veillonella parvula丰度增高,差异有统计学意义(P<0.05).结论 ADHD患儿的肠道菌群构成存在异常.

目的 探讨儿童单纯疱疹病毒性脑炎后并发痉挛发作的临床特征及治疗.方法 回顾分析3例单纯疱疹病毒性脑炎后并发痉挛发作患儿的临床资料,并复习相关文献.结果 1例女性、2例男性患儿,14～27月龄,均有婴儿期单纯疱疹病毒性脑炎病史,出现痉挛发作时年龄均<1岁.头颅磁共振均可见明显异常,例1双颞顶叶多发异常信号,左颞顶叶脑实质血肿;例2双侧顶叶及脑室旁多发异常信号;例3双侧颞叶、颞叶皮质区、嗅三角区、岛叶、左枕颞内侧回、双侧枕叶、顶叶、右侧丘脑、右侧侧脑室体旁多发异常信号.例1和例2给予促皮质素(ACTH)治疗,例3行迷走神经刺激术并结合抗癫痫药物治疗.例2短期缓解后复发,另2例均未缓解,治疗效果欠佳.以"单纯疱疹病毒性脑炎、癫痫、痉挛发作"为关键词,在中国知网、万方数据库以及PubMed中进行搜索,共获得英文文献3篇,20例患儿,在长期随访中均发展为药物难治性癫痫,预后不佳.结论 单纯疱疹病毒性脑炎后并发痉挛发作,药物治疗效果较差,预后不佳.

目的 总结ATP1A3基因相关发作性疾病的临床特征,探讨表型与基因型的关联.方法 回顾性分析2018年9月至2019年12月收治的4例ATP1A3基因变异相关发作性疾病患儿的临床资料及基因检测结果.结果 4例患儿均为男性,中位起病年龄5个月(20日龄～9月龄);临床诊断分别为儿童交替性偏瘫(AHC),AHC并癫痫,癫痫和小脑性共济失调、反射消失、高弓足、视神经萎缩和感觉神经性听力减退(CAPOS).患儿首发症状和临床表现各不相同,又有重叠相似之处.所有患儿均存在ATP1A3基因杂合变异,共发现4种错义变异;3例为新发变异,1例来源于其母亲.除外c.2423C>T,p.P808L未见报道,其余3种(c.2839 G>C,p.G 947 R;c.2401 G>A,p.D 801 N;c.2452 G>A,p.E818K)均为已报道的致病性变异.结论 ATP1A3基因变异可引起AHC、CAPOS综合征、癫痫等不同临床表型,c.2423 C>T,p.P808L为新发现的致病性变异.