Objective: Serum globulin is associated with inflammatory or immune disorders. However, it has not been established whether it is associated with myasthenia gravis (MG). We investigated the association between globulin with relapse and prognosis in children with MG. Methods: A cohort of 148 MG cases and 150 healthy children were retrospectively enrolled from January 2015 to December 2021. Multivariate logistic and Cox regression models were used to analyze the treatment outcomes and recurrence of case group, exploring the influence of globulin. Results: Compared with the control group, globulin levels in the MG group were slightly increased (t = 7.244, p < 0.001). After a mean follow-up of 2.25 +/- 1.05 years, 35 cases relapsed, with a relapse rate of 23.65%. Logistic regression analysis showed that globulin levels at admission [adjusted odds ratio (OR) = 1.233, 95% confidence interval (CI) 1.028-1.472, p = 0.018] were independent risk factors for relapse. Cox regression analysis confirmed that globulin levels at admission affects relapse-free time [adjusted hazard ratio (HR) = 0.552, 95% CI 0.357-0.852, p = 0.007]. Receiver operating characteristic curve determined 25.10 as the optimal cutoff value for globulin. Cox regression showed that high globulin levels (>25.10) at admission (adjusted HR = 0.607, 95% CI 0.383-0.961, p = 0.033) were independent risk factors for poor therapeutic outcomes at follow-up. Ordinal logistic regression showed that globulin affects the treatment plan (OR = 1.445, 95% CI 1.223-1.847, p = 0.014). Conclusions: Elevated globulin levels in children with MG on admission predicts a high relapse rate and poor long-term therapeutic efficacies.

IntroductionAnti-IgLON5 antibody-related encephalitis is a rare autoimmune disorder of the central nervous system, predominantly occurring in middle-aged elderly individuals, with paediatric cases being exceptionally rare. This study aims to enhance the understanding of paediatric anti-IgLON5 antibody-related encephalitis by summarising its clinical and therapeutic characteristics.MethodA retrospective analysis was conducted on two paediatric patients diagnosed with anti-IgLON5 antibody-related encephalitis at Hunan Children’s Hospital from August 2022 to November 2023. This involved reviewing their medical records and follow-up data, in addition to a literature review.ResultsThe study involved two patients, one male and one female, aged between 2.5 and 9.6 years, both presenting with an acute/subacute course of illness. Clinically, both exhibited movement disorders (including dystonia, involuntary movements, and ataxia), cognitive impairments, sleep disturbances, and psychiatric symptoms. Patient 1 experienced epileptic seizures, while Patient 2 exhibited brainstem symptoms and abnormal eye movements. Neither patient showed autonomic dysfunction. Patient 1 had normal cerebrospinal fluid (CSF) and Brain MRI findings, whereas Patient 2 showed moderate leukocytosis and mild protein elevation in the CSF, and Brain MRI revealed symmetrical lesions in the basal ganglia and cerebellum. Oligoclonal bands in the CSF were positive in both cases. Both patients tested negative for HLA-DQB*05:01 and HLA-DRB*10:01. They received both first-line and second-line immunotherapies, with Patient 2 showing a poor response to treatment.DiscussionPaediatric cases of anti-IgLON5 antibody-related encephalitis similarly present sleep disturbances as a core symptom, alongside various forms of movement disorders. Immunotherapy is partially effective. Compared to adult patients, these paediatric cases tend to exhibit more pronounced psychiatric symptoms, a more rapid onset, and more evident inflammatory changes in the CSF. The condition appears to have a limited association with HLA-DQB*05:01 and HLA-DRB*10:01 polymorphisms.

Alopecia intellectual disability syndromes 4 (APMR4) caused by Lanosterol synthase (LSS) gene variants is a very rare autosomal recessive neuroectodermal syndrome. It is characterized by congenital alopecia and variable degrees of intellectual disability (ID), frequently associated with developmental delay (DD) and epilepsy. Currently, only three studies regarding LSS-related APMR4 have been reported, the pathogenesis of APMR4 is poorly understood. We studied one patient with LSS-related APMR4 who presented with severe intellectual disability, alopecia, early-onset epilepsy and developmental delay. She is absence of hair on the eyebrows, eyelashes, and scalp. Two novel LSS variants (c.401 T > G and c.369C > G) were detected with whole-exome sequencing (WES). Analysis via WB experiment indicated that c.369 > G reduced the protein expression level of LSS. Analysis of protein stability prediction showed a destabilizing for LSS caused by the variant c.401 T > G. This study is the first study in Asia to date. These findings expanded the variantal spectrum of LSS-related APMR4 and revealed the potential pathogenic mechanism of LSS gene variants.

目的:探讨Landau Kleffner综合征(LKS)的临床特征.方法:回顾分析1例LKS患者的临床资料,并复习相关文献.结果:患儿,女,4岁10月,慢性病程,病程1年余,病程初期表现为反复局灶运动性抽搐发作,后期出现语言功能倒退,同时伴行为异常及性格改变.最终诊断为LKS.文献检索国内外目前报道均较少,大多为病例报道及综述.目前具体发病机制不详,考虑与基因及免疫因素相关,激素治疗效果尚可,但目前仍无权威的诊疗指南及专家共识.结论:LKS在临床上诊断并不困难,但需排除其他疾病,激素对于失语及ESES有效.

Abstract Background Duchenne muscular dystrophy (DMD) is a rare hereditary muscular disease. The role of eosinophils in DMD has not been clarified. This study aims to evaluate the association between peripheral blood eosinophil count and severity and prognosis of DMD. Methods A retrospective cohort study was performed for 145 DMD patients between January 2012 and December 2020. Clinical data of 150 healthy children were collected as a control group. Logistic regression and Cox regression analyses were used to explore the influences of eosinophil count on DMD severity and prognosis. Results Eosinophil count in DMD group was lower than the control group (Z = 2.163, P = 0.031). It was negatively correlated with Vignos scale score, Spearman correlation coefficient was p = 0.245, P = 0.040 (at admission),p = 0.137, P = 0.032 (at follow-up); was a protective factor for high Vignos scale score at admission [odds ratio (OR) = 0.038, 95%CI: 0.002–0.752, P = 0.032] and follow-up (OR = 0.033,95%CI: 0.001–0.121, P = 0.039). The Cox regression analysis indicated that elevated eosinophil count was correlated with better therapeutic efficacy for DMD patients [hazard ratio (HR) = 2.218, 95%CI: 1.154–3.924, P = 0.016]. Conclusion Eosinophil count in peripheral blood was correlated with the severity of DMD. It could indicate the therapeutic efficacy and prognosis of DMD patients to a certain extent. Eosinophils may be a potentially valuable biomarker or therapeutic target for DMD.

OBJECTIVE:To explore the clinical phenotype and genetic basis of a child with early onset neurodevelopmental disorder with involuntary movement (NEDIM).METHODS:A child who presented at Department of Neurology of Hunan Children's Hospital on October 8, 2020 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was searched from the CNKI, PubMed and Google Scholar databases to summarize the clinical phenotypes and genetic variants of the patients.RESULTS:This child was a 3-year-and-3-month boy with involuntary trembling of limbs and motor and language delay. WES revealed that the child has harbored a c.626G>A (p.Arg209His) variant of the GNAO1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant had been reported in HGMD and ClinVar databases, but not in the dbSNP, ExAC and 1000 Genomes databases. Prediction with SIFT, PolyPhen-2, and Mutation Taster online software suggested that the variant may be deleterious to the protein function. By UniProt database analysis, the encode amino acid is highly conserved among various species. Prediction with Modeller and PyMOL software indicated that the variant may affect the function of GαO protein. Based on the guideline of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic.CONCLUSION:The GNAO1 gene c.626G>A (p.Arg209His) variant probably underlay the NEDIM in this child. Above finding has expanded the phenotypic spectrum of GNAO1 gene c.626G>A (p.Arg209His) variant and provided a reference for clinical diagnosis and genetic counseling.

Clinical data of a child with high blood ammonia and suspected argininosuccinate synthetase deficiency (ASSD) in Hunan Children′s Hospital were retrospectively analyzed, including data of mass spectra for blood amino acids and acyl carnitine, urine organic acid analysis and whole exome sequencing.After the exact diagnosis of ASSD and being approved by the Administrative Regulation for Import Medical Devices Urgently Needed in Boao Lecheng International Medical Tourism Pilot Zone of Hainan Free Trade Port, the patient was medicated with Glyceryl phenylbutyrate (GPB) and followed up.The patient was a boy aged 7 years and 8 months, who presented at the Neurology Department of Hunan Children′s Hospital for sleepiness, abnormal mental behavior and personality change for 1 week on December 2, 2021.Before GPB treatment, the highest blood ammonia, alanine aminotransferase and aspartate transaminase were 325.2 μmol/L, 465.7 IU/L and 277.3 IU/L, respectively.Genetic metabolism assay of blood and urine showed a significantly increased citrulline at 697.42 μmol/L; urine organic acid analysis showed increased urinary orotic acid at 144.2 μmol/L, and increased uracil at 65.1 μmol/L.A pure heterozygous variant of the ASS1 gene (c.1087C>T, p.R363W) was detected.After GPB treatment, the blood ammonia levels were 21.3 μmol/L, 54.6 μmol/L and 62.4 μmol/L on the 41 st, 90 th and 146 th days, respectively.Until July 20, 2022 follow-up visit, the patient recovered well without adverse events.This was the first ASSD child in China who was treated with GPB.This case report provided therapeutic experience of ASSD in our country.ASSD has a high mortality rate and unexplained abnormal mental behavior.It is necessary to timely measure blood ammonia, and a series of urea cycle disorders should be well concerned.The diagnosis and management of ASSD rely on the data of metabolism examination and genetic testing.

OBJECTIVE To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease. METHODS A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents. RESULTS WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software. CONCLUSION Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.

Abstract Objective To investigate the effect of peripheral blood eosinophil count on the severity and prognosis of Duchenne Muscular Dystrophy（DMD).Method The clinical data of 145 patients with DMD and 150 normal healthy children in the same period were collected retrospectively. The results of the two groups were analysed and compared. Logistic regression and Cox regression analysis were used to explore the influence of eosinophils on DMD. The relationship between eosinophils and the long-term efficacy and prognosis of DMD were followed up.Result Compared with the control group, the eosinophil count of children in DMD group was slightly lower(Z=2.163,p=0.031).Eosino-phil count at visit and follow-up was slightly negatively correlated with muscle strength score to visit and follow-up, and the correlati-on coefficients were as follows: ρ=-0.245，p=0.040，ρ=-0.137，p=0.032.Eosinophils were the protective factor for high muscle strength score of visit,OR=0.007,95%CI(0.001-0.276)，p=0.008,OR=0.038,95%CI(0.002-0.752), p=0.032 after adjusting for age and other factors. Eosinophils were also the protective factor for elevated muscle stre-ngth score at follow-up visit,(OR=0.012,95%CI0.001-0.645,p=0.029), after adjusting for age and other factors (OR=0.033,95%CI0.001-0.121,p=0.039). Univariate analysis found that eosinophils affected the curative effect during follow-up visit, HR=2.739,95%CI(1.294-5.979)p=0.008. Further adjustment for age and other factors multivariate Cox regression analysis found that eosinophils affected the curative effect(HR=1.127,95% CI 1.109-1.246,p=0.020）.Conclusion The eosinophil count in peripheral blood was related to the severity of DMD, and can predict the curative effect and prognosis to a certain extent. Eosinophil count may be a potentially useful predictor.

Biallelic NARS2 mutations can cause various neurodegenerative diseases, leading to growth retardation, intractable epilepsy, and hearing loss in early infancy and further progressing to spastic paraplegia, neurodegeneration, and even death. NARS2 mutations are associated with mitochondrial dysfunction and cause combined oxidative phosphorylation deficiency 24 (COXPD24). Relatively few cases have been reported worldwide; therefore, the pathogenesis of COXPD24 is poorly understood. We studied two unrelated patients with COXPD24 with similar phenotypes who presented with intractable refractory epilepsia partialis continua, hearing loss, and growth retardation. One patient died from epilepsy. Three novel NARS2 variants (case 1: c.185T > C and c.251 + 2T > G; case 2: c.185T > C and c.509T > G) were detected with whole-exome sequencing. c.251 + 2T > G is located at the donor splicing site in the non-coding sequence of the gene. The minigene experiment further verified that c.251 + 2T > G caused variable splicing abnormalities and produced truncated proteins. Molecular dynamics studies showed that c.185T > C and c.509T > G reduced the binding free energy of the NARS2 protein dimer. The literature review revealed fewer than 30 NARS2 variants. These findings improved our understanding of the disease phenotype and the variation spectrum and revealed the potential pathogenic mechanism of non-coding sequence mutations in COXPD24.

Abstract Background Nabais Sa‐de Vries syndrome (NSDVS) is a newly identified neurodevelopmental disorder (NDD), characterized by mutations in the SPOP gene, which encodes the speckle‐type BTB/POZ protein. It is divided into two disease subtypes, according to patient facial features, which could be related to altered SPOP protein function. Few studies have documented this syndrome and little is known about its pathophysiology. Herein, we present an unexplained infant case of NDD, possibly the first Asian NSDVS case report. Methods A 7‐month‐old boy presented with an enlarged head circumference, widened eye distance, and a protruding nose. Trio‐whole exome sequencing of the patient's family was performed, and a variant was identified by bioinformatics analysis and further verified by Sanger sequencing. This variant was then identified by molecular dynamics analysis. Finally, a plasmid was constructed in vitro to transfect the human 293 T cells. qPCR and western blotting (WB) experiments were subsequently performed. These analyses verified the variant's transcription and protein expression. Results Trio‐whole exome sequencing was used to identify the SPOP mutation c.67 T > C (p.Cys23Arg). Crystal structure simulations suggest that this single‐residue substitution alters hydrogen bonding with nearby residues. Analysis via qPCR and WB experiments indicated decreased mutant mRNA and protein expression levels. Conclusion Our findings suggest that genetic testing should be performed as soon as possible for children with NDD showing low phenotypic specificity. Prompt testing will provide more accurate diagnoses, which in turn offers evidence to assist in the formulation of rehabilitation training plans, and genetic counseling for patients' families.

目的 探讨儿童颈部肌阵挛伴失神发作的临床特征.方法 回顾分析2例以颈部肌阵挛伴失神为发作类型的儿童癫痫的临床和脑电图特征,并复习相关文献.结果 2例均为男孩,起病年龄分别为7岁9个月、9岁10个月,出生史及生长发育史无异常,无遗传性疾病及癫痫家族史.头颅影像无异常.视频脑电图(VEEG)显示背景节律无异常,发作间期睡眠期记录到前头部或广泛性棘波、棘慢波,发作均表现为节律性摇头运动伴头颈向一侧偏转,伴意识障碍,持续约6～13 s;发作期脑电图为广泛性极高波幅3 Hz左右棘慢波节律爆发,一侧胸锁乳突肌伴有与棘波同步的约50 ms节律性肌电爆发且伴有强直电位,过度换气能诱发发作,无光敏感.基因检测无异常.患儿经丙戊酸钠治疗后发作控制.文献检索国外共报道经VEEG证实为颈部肌阵挛伴失神发作患儿4例,起病年龄为4岁9月～12岁,1种或2种抗癫痫药物治疗4个月～3年后发作控制.结论 颈部肌阵挛伴失神发作是一种具有独立脑电-临床特征的全面性癫痫发作类型.

OBJECTIVES:This study aimed to investigate the influence of neutrophil-to-lymphocyte ratio (NLR) on the severity and short-time curative effect of myasthenia gravis (MG) in children. METHODS:Data of 132 MG children were retrospectively analyzed, and data of 140 healthy controls (HC group) in the same period were collected. The data of both groups were compared and analyzed. RESULTS:NLR of MG group was significantly higher than that of HC group (Z = 2.644, p = 0.008). According to NLR level, patients were divided into 3 groups: N1 (NLR < 1.03), N2 (NLR 1.03-2.17), and N3 (NLR > 2.17). Significant differences in white blood cell counts, course of disease, uric acid, albumin and the time of hospital stay among the 3 groups were observed (p < 0.05, 0.01). The results of logistic regression revealed that NLR (adjusted OR = 3.874, 95% CI 1.359-11.045, p = 0.011) was the risk factor of MG, and it was risk factor of higher QMG during admission (adjusted OR = 2.989, 95% CI 1.247-7.160, p = 0.014) as well. Using the NLR level for the MG diagnostic test, the area under the receiver operating characteristic (ROC) curve was 0.765 [95%CI (0.710-0.820), p = 0.000], with a cut-off value of 1.39, sensitivity of 0.833, and specificity of 0.479. Cox regression analysis suggested that NLR (N1: Wald = 9.262, p = 0.010, N2: HR = 12.267, 95%CI 2.432-61.863, p = 0.000, and N3: HR = 8.142, 95%CI 1.209-77.754, p = 0.032) was associated with poor efficacy at discharge. Elevated NLR was considered as an independent risk factor of poor outcomes during discharge. CONCLUSION:NLR could reflect disease severity and short time curative effect in children with MG to some extent. It may also be a potential marker in indicating diagnosis and severity of MG in children.

目的 探讨Nicolaides-Baraitser综合征的临床和基因突变特点.方法 回顾分析1例Nicolaides-Baraitser综合征患儿的临床资料,并复习相关文献.结果 男性患儿,2岁.1岁2个月起病,病初表现为双眼凝视、反应减低,无明显四肢抖动,持续时间数十秒后缓解,发作后疲惫入睡,间歇期如常,间隔10天左右发作1次,予卡马西平口服无效.1个月前出现全身快速抖动,有时伴发作性全身无力,数秒钟缓解,但发作频繁.患儿头围44 cm,特殊面容,三角脸、人中宽且长、上唇薄而下唇增厚、头部毛发少,右手通贯掌,步态正常;盖泽尔智力量表发育商57.脑电图示背景节律慢化,枕、颞区尖波、尖慢波大量发放,广泛性棘慢波多量发放,全导棘慢波爆发伴肌阵挛发作,监测到右侧枕区及颞区起源的局灶性发作各1次.基因检测发现患儿9号染色体SMARCA2基因c.3293(exon24)G>A新生突变.文献检索国外共报道75例,其中61例有基因检测,2例为框内缺失突变、59例为错义突变.结论 患儿为国内首次报道的Nicolaides-Baraitser综合征.

目的 探讨儿童抗-NMDA受体脑炎的临床特征和预后因素.方法 收集和分析2015年1月—2017年12月确诊为抗-NMDA受体脑炎的51例患儿的临床资料,以及出院6个月的短期预后评估结果 .结果 51例患儿中男21例、女30例,平均年龄(7.36±3.24)岁.最常见临床症状为运动障碍45例、人格改变43例、癫痫42例、认知障碍16例.2例自行转院.在49例接受治疗的患儿中,静脉注射免疫球蛋白45例,同时给予甲基泼尼松龙41例;血浆置换8例;接受利妥西单抗二线治疗8例,其中6例为静脉注射免疫球蛋白和甲基泼尼松龙治疗无效后、2例在接受血浆置换治疗无效后予利妥西单抗治疗.7例失访,42例出院后6个月随访评估短期预后良好23例.多元logistic回归模型分析发现,认知障碍(OR=23.97,95％CI:1.12～513.30,P=0.042)与脑MRI异常(OR=14.29,95％CI:1.36～150.10,P=0.027)是短期预后差的独立危险因素.结论 抗-NMDA受体脑炎常见运动障碍、人格改变、癫痫发作和认知障碍,MRI异常和认知障碍是短期预后不良的重要预测因子.

目的 探讨KCNQ2基因突变相关癫痫临床表型与基因型的相关性.方法 收集2015年10月至2018年9月经全外显子组测序技术筛选出的10例KCNQ2基因阳性突变患儿的临床资料,其中包括一对异卵双胞胎.被证实的突变均用Sanger测序验证,并明确突变的父母来源.结果 发现5个新的KCNQ2突变,c.1720_1721delGG、c.185C>T、c.2180A>G、c.2245G>A、c.1164A>T,另外3个已报道突变c.917C>T、c.1687G>A、c.1741C>T.患儿表现为轻重不一的早发性癫痫脑病(EOEE).在双胞胎患儿中均发现无义突变c.807G>A,但1例临床诊断为EOEE,另1例为良性家族性新生儿癫痫.家系调查发现家族中5人受累,受累者的临床表现轻重不一.10例患儿经单药或联合苯巴比妥、丙戊酸钠、托吡酯、奥卡西平、左乙拉西坦治疗后,大部分症状改善或消失.结论 KCNQ2基因相关癫痫是一种谱系疾病,可从重型的EOEE到中间型的非典型早发癫痫脑病及良性家族性婴儿癫痫,再到轻型的良性家族性新生儿癫痫等.KCNQ2基因突变类型及位点分布可能与临床表型相关联,需要个体化治疗.

Objective To understand the clinical features and prognosis of children with severe viral encephalitis (SVE), evaluate the related factors affecting prognosis. Methods Clinical data of 102 children with SVE in pediatric neurological ward and pediatric intensive care unit in Hunan Children's Hospital between January 2014 and January 2016 were analyzed retrospectively. According to prognosis, children were divided into good prognosis group(n =24, children's Glasgow outcome scale[CGOS]: 4 — 5) and poor prognosis group(n = 78, CGOS: 1 - 3), clinical data of two groups of children were compared, risk factors affecting the prognosis of SVE children were analyzed. Results In good prognosis group, 15 cases were cured and 9 had mild sequelae; in poor prognosis group, 14 cases died, 25 had severe sequelae, and 39 had moderate sequelae. The duration of fever and length of hospital stay in good prognosis group were both shorter than poor prognosis group, difference was statistically significant (both P く0.05). Multivariate unconditioned logistic regression analysis showed that adverse factors for prognosis of SVE were as follows: convulsive status, respiratory failure, longer fever period(＞5 days), severely abnormal electroen-cephalogram(EEG), head magnetic resonance imaging (MRI) lesions involving more than two sites or lesions involving the infratentorial, and stress hyperglycemia, odds ratio(OR) were 13.468, 4.580, 2.378, 10.196, 3.012, and 6.316 respectively. Conclusion SVE is a serious threat to quality of children's life, convulsive status, respiratory failure, longer fever period, severely abnormal EEG, head MRI lesions involving more than two sites or lesions involving the infratentorial, and stress hyperglycemia are risk factors for prognosis of SVE in children.

Objective To study the clinical efficacy and follow-up study of ketogenic diet adding treatment for refractor epilepsy in children.Methods Cluster sampling method was employed to select children in children's hospital from January 2015 to June 2017,a total of 25 cases were diagnosed refractor epilepsy and adding ketogenic diet.Engel grade was used to evaluate the efficiency,the side effects,electroencephalogram (EEG) changes and intellectual development at 3 months,3-6 months,and more than 6 months.Results The effective rate of epileptic seizure control was 0,66.7％ and 87.5％ at 3 months,3 -6 months and ＞ 6 months respectively.The improvement rate of EEG discharge index was 33.3％,50％ and 81.3％ respectively.The improvement of intelligence development was 33.3％,50％ and 68.8％ respectively.Gastrointestinal disturbances were the main side effects.Severe side effect occurred in two cases--they had severe food refusal and were stopped the ketogenic diet adding treament.Conclusions The ketogenic diet is effective,safe,few side effects and tolerable in infants and children with refractory epilepsy.The ketogenic diet may improve cognition and behavior in addition to reducing seizure frequency,the interical epileptiform discharges (IED) index and improve the quality of life of epileptic children.However,the acceptance of ketogenic diet therapy for children is not satisfactory.The sample size is small and needs further promotion.While large samples and long-term observations are still desired to better recipes,and to provide possibly effective altemative to other therapies for refractor epilepsy.

目的 观察分析左乙拉西坦治疗小儿癫痫的临床疗效和安全性.方法 选取我院2014年1月至2016年1月收治的癫痫患儿200例,随机分为观察组和对照组各100例.对照组给予丙戊酸钠治疗,观察组给予左乙拉西坦治疗.观察两组患儿的治疗效果及不良反应发生情况.结果 观察组患儿的临床治疗总有效率为95.0％,显著高于对照组的77.0％,差异具有统计学意义(P＜0.05);两组不良反应发生率比较差异无统计学意义(P＞0.05).结论 采用左乙拉西坦治疗小儿癫痫,有利于缓解患儿的临床症状,提高治疗总有效率,不良反应发生率低,安全可靠.

目的 探讨自身免疫性脑炎相关癫痫对于儿童认知功能所带来的影响效果.方法 选取我院2012年1月至2016年1月收治的50例自身免疫性脑炎相关癫痫患儿作为研究组,另选同期50例健康体检儿童作为对照组,在两组受试者家属均已经了解研究方案内容后对其认知功能进行测定和比较.结果 研究组IQ评分(78.22±8.38)分、MQ评分(69.45±6.85)分、DQ评分(0.38±0.05)分,而同期对照组分别为(124.20±8.40)分、(90.12±6.98)分、(0.08±0.02)分,组间比较差异具有统计学意义(P＜0.05).结论 自身免疫性脑炎相关癫痫可给患儿认知功能带来严重损害,必须予以足够重视并采取积极的治疗措施,为儿童认知功能提供保障.