Neuropediatrics最新文献

Management of Critically Ill Children with Acute Necrotizing Encephalitis during an H1N1 Outbreak in a Tertiary Pediatric Hospital: A Series of Three Cases and Literature Review. 一家三级儿科医院在甲型 H1N1 流感爆发期间对急性坏死性脑炎重症患儿的管理：三例系列病例和文献综述。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-11-11 DOI: 10.1055/a-2442-5810

Annalisa D'Eleuterio, Paolo Rufini, Manuela L'Erario, Gabriele Simonini, Carlotta Montagnani, Stefano Ermini, Silvia Ricci, Luca Bartolini, Zaccaria Ricci

引用次数: 0

Response to Letter to the Editor: Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy. 回应致编辑的信：Nusinersen 对脊髓性肌肉萎缩症儿童呼吸和球部功能的影响。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-11-08 DOI: 10.1055/a-2437-6075

Mirella Gaboli, Mercedes López-Lobato, Justo Valverde-Fernández, Patricia Ferrand-Ferri, Eloisa Rubio-Pérez, Henry A Andrade-Ruiz, José M López-Puerta González, Marcos Madruga-Garrido

引用次数: 0

Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders. 进行性肌阵挛癫痫及其他：SEMA6B相关疾病的系统综述。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-11-04 DOI: 10.1055/a-2442-5741

Mert Altıntaş, Miraç Yıldırım, Ömer Bektaş, Serap Teber

{"title":"Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders.","authors":"Mert Altıntaş, Miraç Yıldırım, Ömer Bektaş, Serap Teber","doi":"10.1055/a-2442-5741","DOIUrl":"10.1055/a-2442-5741","url":null,"abstract":"Progressive myoclonus epilepsy (PME) is a rare, clinically and genetically heterogeneous epilepsy syndrome, and pathogenic variants in the semaphorin 6B (SEMA6B) gene have recently been reported to be among the causes of PME. Cases with pathogenic variants in the SEMA6B gene are extremely rare, only a limited number of cases have been reported in the literature. In this systematic review, we aimed to present a summary of a PME case in which a heterozygous nonsense variant of c.2086C > T p.(Gln696*) in the SEMA6B gene was detected in the etiology and other cases with SEMA6B pathogenic variant in the literature. Except for our case, 35 cases from 12 studies were included. The main clinical findings in these patients were cognitive problems, seizures, gait and speech disturbances, and cognitive and/or motor regression, and they had a wide spectrum of severity. Response to antiseizure medications was also highly variable, almost half of the patients had pharmacoresistant seizures. Patients were divided into four different phenotypic groups according to their clinical presentations: PME (18/36), developmental and epileptic encephalopathy (13/36), neurodevelopmental disorder (4/36), and epilepsy (1/36), respectively. In conclusion, although SEMA6B has been associated with PME, it may actually cause a much broader phenotypic spectrum. Due to their extreme rarity, our knowledge of SEMA6B-related disorders is limited. As with all other rare diseases, each new SEMA6B-related disorder case could contribute to a better understanding of the disease. A better understanding of the disease may allow the development of specific treatment options in the future.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study. 早产儿的振幅综合脑电图 (aEEG) - 一项前瞻性队列研究。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-11-04 DOI: 10.1055/a-2436-8767

Gayathri G Vinnakota, Leslie E Lewis, Shruthi K Bharadwaj, Jayashree Purkayastha, Anand K Patil

{"title":"Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study.","authors":"Gayathri G Vinnakota, Leslie E Lewis, Shruthi K Bharadwaj, Jayashree Purkayastha, Anand K Patil","doi":"10.1055/a-2436-8767","DOIUrl":"10.1055/a-2436-8767","url":null,"abstract":"Objective: The study aimed to interpret and establish patterns of amplitude-integrated electroencephalogram (aEEG) in stable preterm neonates and compare the aEEG among different gestational age groups using three standard classifications.Methods: This prospective cohort study included stable preterm neonates between 240/7 and 366/7 weeks of gestation. aEEG was recorded in the first and second week of life and interpreted using the L. Hellström-Westas, Burdjalov, and Magalhães classification for background pattern, continuity, upper and lower margin amplitude, sleep-wake cycle, bandwidth, and presence of seizures. Subgroup analysis was performed based on ≤30 and >30 weeks' gestation.Results: A total of 76 aEEG recordings were analyzed from 45 preterm neonates. In the first week, 60% of the neonates had normal voltage patterns, which increased to 80% in the second week. All infants ≤30 weeks displayed discontinuous wave patterns during the first week, and half transitioned to continuous waves in the second week. The lower margin amplitude increased, and the upper margin amplitude decreased with increased gestational age. Additionally, 65% of neonates had a mature sleep-wake cycle in the second week compared with 22% in the first week. The median (interquartile range) CFM score in the second week was 12 (4.5) compared with 8 (4) in the first week, and the CFM score positively correlated with gestation (Spearman correlation coefficient, 0.8; 95% confidence interval, 0.7-0.86). Magalhães grading in both groups was predominantly normal.Conclusion: aEEG is predominantly a continuous normal voltage pattern in >30 weeks' gestation and discontinuous in ≤30 weeks' gestation. CFM score correlates positively with advancing gestation gestational age.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence. 纽西那生对脊髓性肌肉萎缩症儿童呼吸和球部功能的影响通信。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-22 DOI: 10.1055/a-2434-6190

Hinpetch Daungsupawong, Viroj Wiwanitkit

引用次数: 0

Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic. 小儿神经科门诊对不明原因的全面发育迟缓儿童的诊断方法。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-19 DOI: 10.1055/a-2430-0494

Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli

{"title":"Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.","authors":"Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli","doi":"10.1055/a-2430-0494","DOIUrl":"10.1055/a-2430-0494","url":null,"abstract":"Background: Global developmental delay (GDD) is a common pediatric disorder that affects up to 3% of children. Due to the heterogeneous etiology of GDD, diagnostic procedures and algorithms are complex and diverse. The aim of our study was to investigate the diagnostic yield of genetic, metabolic, and imaging studies in establishing the etiology of unexplained GDD (UGDD).Methods: In this retrospectively observational study, we examined the medical records of all children diagnosed with UGDD at the Department of Pediatric Neurology, University Medical Centre Ljubljana, Slovenia, between January and December 2019. We evaluated the effectiveness of various genetic, metabolic, and magnetic resonance imaging (MRI) tests in identifying the underlying cause of GDD. Additionally, we assessed subgroups of patients to determine whether any of the studied tests were particularly beneficial based on their clinical symptoms.Results: A total of 123 patients met the inclusion criteria, with a median age of 4.3 years (range, 0-16 years), of which 71 (57.7%) were males. Genetic diagnosis was established in 47.1% (58/123) of patients. Metabolic laboratory testing did not identify a metabolic disease in any of the tested participants (114/123) and MRI was critical for diagnosis in only 1/81 (1.2%) patient.Conclusion: Our findings strongly suggest that genetic testing surpasses MRI and metabolic testing in establishing the etiology of UGDD in a pediatric neurology outpatient setting. This information will help guide the diagnostic evaluation of these children.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Phenotype and Genotype of Children with ALS2 gene-Related Disorder. ALS2 基因相关障碍儿童的表型和基因型。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-18 DOI: 10.1055/s-0044-1791256

Sangeetha Yoganathan, Madhan Kumar, Rekha Aaron, Srinivasa Raghavan Rangan, Bidkar Sayli Umakant, Maya Thomas, Samuel Philip Oommen, Sumita Danda

{"title":"Phenotype and Genotype of Children with ALS2 gene-Related Disorder.","authors":"Sangeetha Yoganathan, Madhan Kumar, Rekha Aaron, Srinivasa Raghavan Rangan, Bidkar Sayli Umakant, Maya Thomas, Samuel Philip Oommen, Sumita Danda","doi":"10.1055/s-0044-1791256","DOIUrl":"https://doi.org/10.1055/s-0044-1791256","url":null,"abstract":"Introduction: The Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) gene encodes a protein alsin that functions as a guanine nucleotide exchange factor. The variations in ALS2 gene leads to degeneration of upper motor neurons of the corticospinal tract. The phenotypes resulting from variants in ALS2 gene are infantile-onset ascending hereditary spastic paralysis (IAHSP, OMIM # 607225), juvenile primary lateral sclerosis (JPLS, OMIM # 606353), and juvenile amyotrophic lateral sclerosis (JALS, OMIM # 205100). Our study objectives were to describe the clinical phenotype and genotype of children with an established diagnosis of ALS2 gene-related disorder.Methods: The clinical details, laboratory data, and genotype findings of children with an established diagnosis of ALS2 gene-related disorder were collected from the hospital electronic database after obtaining institutional review board approval.Results: One family with three affected siblings, a second family with a proband and an affected fetus, and a third family with two affected siblings with ALS2 gene variants were identified. IAHSP was diagnosed in all of our patients with variants in ALS2 gene. The clinical findings observed in our patients were insidious onset progressive spastic paraparesis, contractures, and dysarthria. Nonsense variants were observed in four patients while frameshift variant was observed in one family. Novel variants in ALS2 gene were identified in two unrelated families.Conclusion: ALS2 mutation results in rare neurodegenerative disorders with the clinical spectrum encompassing IAHSP, JPLS, and JALS disorders. In view of allelic heterogeneity described in the literature, more research studies are needed for establishing genotype-phenotype correlation in patients with ALS2 gene-related disorder.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation. 一例因 IFIH1 基因突变导致的严重艾卡迪-古蒂耶尔综合征患者的神经系统检查结果和最新文献综述。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-01 Epub Date: 2024-05-07 DOI: 10.1055/a-2321-0597

Mojca Železnik, Tina Vipotnik Vesnaver, David Neubauer, Aneta Soltirovska-Šalamon

引用次数: 0

Dysregulated Apoptosis and Autophagy in Childhood Epilepsy: Correlation to Clinical and Pharmacological Patterns. 儿童癫痫的细胞凋亡和自噬失调：与临床和药物治疗模式的相关性

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-01 Epub Date: 2024-07-04 DOI: 10.1055/s-0044-1788032

Ahmed El-Abd Ahmed, Mohammed H Hassan, Asmaa A Abdelfatah, Ali Helmi Bakri

{"title":"Dysregulated Apoptosis and Autophagy in Childhood Epilepsy: Correlation to Clinical and Pharmacological Patterns.","authors":"Ahmed El-Abd Ahmed, Mohammed H Hassan, Asmaa A Abdelfatah, Ali Helmi Bakri","doi":"10.1055/s-0044-1788032","DOIUrl":"10.1055/s-0044-1788032","url":null,"abstract":"Objectives: We aimed to assess the serum levels of caspase-3 as a marker of apoptosis and microtubule-associated protein 1A/1B-light chain 3 (MAP1-LC3) as an autophagy marker in epileptic children with various clinical and pharmacological types.Methods: This case-control study was carried out on 90 participants (50 pediatric patients with epilepsy and 40 healthy matched children), the patients were categorized into three groups: Group (A): 25 pharmacosensitive epilepsy, Group (B): 25 pharmacoresistant epilepsy, and Group (C): 40 (age, sex, and body mass index) matched healthy children selected as controls. Serum caspase-3 and MAP1-LC3 were measured in all study groups, using commercially available ELISA kits.Results: Serum caspase-3 was significantly higher among epileptic children, especially in the pharmacoresistant group, cases managed with multiple antiepileptic drugs, and cases with abnormal EEG findings. Conversely, circulating MAP1-LC3 levels showed a significant reduction in epilepsy cases, particularly in pharmacoresistant cases, in cases treated with multiple antiepileptic drugs, and in cases with abnormal EEG data. A significant negative correlation between serum caspase-3 and MAP1-LC3 was found among epileptic children (r = -0.369, p = 0.0083). Serum caspase-3 was a more valid biomarker in helping diagnose childhood epilepsy, while serum MAP1-LC3 was more valid in predicting pharmacoresistant type.Conclusion: The study reveals that serum caspase-3 levels were significantly elevated, particularly in pharmacoresistant cases and those managed with multiple drugs. Conversely, MAP1-LC3 levels were significantly reduced in epilepsy cases, suggesting potential involvement of altered apoptosis and autophagy in childhood epilepsy.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141534968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

49th Annual Conference of the Society for Neuropediatrics. 第 49 届神经儿科学会年会。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-10-01 Epub Date: 2024-10-08 DOI: 10.1055/s-0044-1791805

Markus Blankenburg

引用次数: 0