Neuropediatrics最新文献_第2页

Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder. CACNA1A 和 ATP1A2 变体之间的关联是导致严重神经发育障碍的原因。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-08-01 Epub Date: 2024-12-12 DOI: 10.1055/a-2500-7729

Charlotte Mouraux, Serpil Alkan, Jean-Hubert Caberg, Frédérique Depierreux

引用次数: 0

MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis. MOG-脑炎是儿童最常见的自身免疫性脑炎。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-08-01 Epub Date: 2025-04-10 DOI: 10.1055/a-2579-6247

Ruth Helena Fellmeth, Lampros Kousoulos, George Christoph Korenke, Hans-Jürgen Christen, Masyar Monazahian, Justine Dargvainiene, Klaus-Peter Wandinger, Frank Leypoldt, Kevin Rostásy

{"title":"MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis.","authors":"Ruth Helena Fellmeth, Lampros Kousoulos, George Christoph Korenke, Hans-Jürgen Christen, Masyar Monazahian, Justine Dargvainiene, Klaus-Peter Wandinger, Frank Leypoldt, Kevin Rostásy","doi":"10.1055/a-2579-6247","DOIUrl":"10.1055/a-2579-6247","url":null,"abstract":"Encephalitis in children is a serious inflammatory brain disease caused by infectious or autoimmune-mediated processes. The frequency of autoimmune variants in pediatric populations is not entirely clear.To study the frequency of myelin oligodendrocyte glycoprotein (MOG) antibody (ab)-mediated autoimmune encephalitis (AE) in children included in the Meningitis/Encephalitis register of Lower Saxony (MERIN).Medical records of 1,341 children treated between 2011 and 2020 in two large children's hospitals participating in a prospective study on encephalitis (MERIN) were reviewed. Children meeting diagnostic criteria for possible AE were finally included if serum samples and informed re-consent were available. Children with pathogen-mediated encephalitis were also included as controls. All available serum samples were tested for MOG- and anti-N-methyl-D-aspartate receptor (NMDAR) antibodies (abs) using cell- and tissue-based assay (TBA).We included 55 children of whom 16 had pathogen-associated meningoencephalitis. Thirty-nine out of fifty-five children were classified as possible AE and 3/39 fulfilled the criteria for MOG ab-associated disease (MOGAD). No patients' sera harbored NMDAR abs. However, 5/39 patients fulfilled the criteria for probable, auto-ab-negative AE.In line with recent research our study suggests that ab-mediated AE and probable ab-negative AE are rare in children. The existing criteria seem suitable for identifying patients with AE but should include the testing of serum MOG abs. Further yet unknown abs may play a role in children with AE.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"226-233"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039181","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

Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study. 一项回顾性研究：儿科多发性硬化症门诊护士护理协调员对治疗时间的影响。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-24 DOI: 10.1055/a-2650-6894

Madeleine H McLaughlin, Grace Gombolay

{"title":"Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study.","authors":"Madeleine H McLaughlin, Grace Gombolay","doi":"10.1055/a-2650-6894","DOIUrl":"10.1055/a-2650-6894","url":null,"abstract":"Early treatment improves long-term outcomes for persons living with multiple sclerosis (MS). Patients with pediatric-onset multiple sclerosis (POMS) experience delays in diagnosis and treatment with disease-modifying therapy (DMT). Here, we explore how a dedicated nurse care coordinator decreases time to treatment in POMS.We included a retrospective cohort of 60 POMS at a single center between 2018 and 2024. The primary outcome was time to DMT initiation. Secondary outcomes included relapse rates and Extended Disability Status Scale (EDSS) scores.In 60 participants, 39 were in the precoordinator group and 21 were in the postcoordinator group. Age, race, ethnicity, insurance, and the area deprivation index did not affect outcomes. However, the postcoordinator group had a shorter time from diagnosis to initiation of DMT (median: 49 days, interquartile range [IQR]: 40-57 days) compared to the precoordinator group (median: 126 days, IQR: 57-254 days, p < 0.001).Here, we found that a care coordinator decreased time to DMT initiation and should be implemented in clinical care.Having a dedicated nurse coordinator to help patients with MS with obtaining their treatments, including their DMTs, can result in a shorter time to starting a DMT.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591863","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

Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature. 亚急性硬化性全脑炎的痉挛而非肌阵挛。一例病例报告及文献回顾。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-22 DOI: 10.1055/a-2642-8218

P Van Gyseghem, A Andrei, M Presiozi, E Goffinon, A Aeby, A Van Hecke

{"title":"Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature.","authors":"P Van Gyseghem, A Andrei, M Presiozi, E Goffinon, A Aeby, A Van Hecke","doi":"10.1055/a-2642-8218","DOIUrl":"https://doi.org/10.1055/a-2642-8218","url":null,"abstract":"Subacute sclerosing panencephalitis (SSPE) is a neurodegenerative disease caused by the measles virus. An affected child typically presents with cognitive decline and abnormal movements, described as myoclonia. Early diagnosis is crucial for prognosis, but can be challenging because early symptoms may be subtle, and EEG findings are not always typical. We propose that better description and documentation of motor symptoms may facilitate earlier recognition of SSPE.A 4-year-old boy presented with cognitive decline and motor symptoms evolving over 6 months. The patient had a history of measles at 2 months of age. Initial investigations, conducted when he developed clinical regression and abnormal movements, were inconclusive. After a partial recovery, he relapsed with further regression, worsening of abnormal movements, and seizures. At our hospital, we diagnosed SSPE based on Dyken's criteria. EEG and EMG recordings showed movements beginning after a diffuse slow wave, followed by a flattening of the EEG line, with a typical diamond pattern on the EMG lasting 0.5 to 1 second. Movements were classified as epileptic spasms.We propose that patients with SSPE may present epileptic spasms as the abnormal motor phenomena, and not only myoclonus. Raising awareness about epileptic spasms as a clinical manifestation may aid early diagnosis of SSPE.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691105","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

Perinatal stroke and cerebral sinovenous thrombosis caused by congenital nephrotic syndrome NPSH1 (Finnish Type): A Case Report. 芬兰型先天性肾病综合征NPSH1致围产期卒中及脑静脉血栓1例

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-16 DOI: 10.1055/a-2655-9135

Bregje Otteline Van Oldenmark, Vivianne Wintjens, Menno J P Toirkens, Roos van Rooij-Kouwenhoven, Enrico Lopriore, Linda de Vries, Sylke Steggerda

{"title":"Perinatal stroke and cerebral sinovenous thrombosis caused by congenital nephrotic syndrome NPSH1 (Finnish Type): A Case Report.","authors":"Bregje Otteline Van Oldenmark, Vivianne Wintjens, Menno J P Toirkens, Roos van Rooij-Kouwenhoven, Enrico Lopriore, Linda de Vries, Sylke Steggerda","doi":"10.1055/a-2655-9135","DOIUrl":"https://doi.org/10.1055/a-2655-9135","url":null,"abstract":"Congenital Nephrotic Syndrome (CNS) is a severe renal disorder in newborns, characterized by complications such as albuminuria, hypoalbuminemia, and hypercoagulability. While CNS is known to predispose patients to thrombosis over time, to our knowledge, cerebrovascular complications such as cerebral sinovenous thrombosis (CSVT) within the first week after birth have rarely been reported before in neonates with confirmed CNS. We present here an infant, born by normal vaginal delivery which was complicated by the retention of a large placenta. She was first admitted on day three with perioral cyanosis and polycythemia. She developed apneas which were later confirmed with aEEG to be seizures and was found to have multiple thrombotic complications including extensive CSVT and bilateral thalamic hemorrhages. Serum albumin was very low with high urinary levels suspicious for Finnish-type CNS, which was confirmed by NPHS1 pathogenic variants p.Cys623Phe and p.Asn870Profs*36. Despite partial exchange transfusions and anticoagulation therapy, the infant developed severe cerebral abnormalities. This case underscores the importance of considering CNS in neonates with a large placenta, severe polycythemia, proteinuria and hypoalbuminemia, as they may be at risk of developing CSVT.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650012","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

Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation. 与胼胝体畸形儿童运动和认知障碍相关的预测因素。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-16 DOI: 10.1055/a-2650-6820

Nurşah Y Süt, Miraç Yıldırım, Ayşe T Kartal, Süleyman Şahin, Ömer Bektaş, Serap Teber

{"title":"Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation.","authors":"Nurşah Y Süt, Miraç Yıldırım, Ayşe T Kartal, Süleyman Şahin, Ömer Bektaş, Serap Teber","doi":"10.1055/a-2650-6820","DOIUrl":"https://doi.org/10.1055/a-2650-6820","url":null,"abstract":"We aim to identify the associated abnormalities, underlying etiology, and risk factors that may lead to motor/cognitive impairment in children with corpus callosum (CC) malformations. This will provide clinicians with data to predict the prognosis of children with CC malformations in the prenatal and/or neonatal period.Children with agenesis or hypoplasia of any part of the CC on neuroimaging within 11 years at a tertiary care university hospital were retrospectively evaluated for demographic and clinical characteristics, other associated systemic abnormalities, etiologies, and prognosis. Children with a history of hypoxia, intracranial hemorrhage, hydrocephaly, stroke, or brain tumor were excluded. Data analysis was performed with SPSS software. Univariate and multivariate analyses were used to evaluate risk factors for the development of motor/cognitive impairment.A total of 165 children were included, 44% of whom were girls. The most common associated abnormality was ocular. Microcephaly was present in 42% (n = 69). Regarding the genetic etiology, five children were diagnosed by karyotype analysis, two by trinucleotide repeat analysis, one by fluorescence in situ hybridization analysis, seven by array comparative genomic hybridization, 11 by single gene mutations, and 15 by whole-exome sequencing. The presence of microcephaly, epilepsy, abnormal electroencephalogram (EEG) findings, and abnormal neurological examination was associated with the risk of developing both cognitive and motor delay. Involvement of a body part of the CC was slightly associated with the risk of motor delay (p = 0.043).Malformations of the CC can result in varying degrees of neurodevelopmental disability. The presence of microcephaly, epilepsy, abnormal EEG findings, and abnormal neurological examination can be used to predict the outcome.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650013","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

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21. 发展性和癫痫性脑病是sca21的一个新的临床标志。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-14 DOI: 10.1055/a-2646-2535

Mario Mastrangelo, Giacomina Ricciardi, Carlo Greco, Rossella Bove, Luca Pollini, Manuela Tolve, Serena Galosi, Francesco Pisani

{"title":"Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.","authors":"Mario Mastrangelo, Giacomina Ricciardi, Carlo Greco, Rossella Bove, Luca Pollini, Manuela Tolve, Serena Galosi, Francesco Pisani","doi":"10.1055/a-2646-2535","DOIUrl":"10.1055/a-2646-2535","url":null,"abstract":"Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurodegenerative disorder due to pathogenic variants of the TMEM240 gene. Its clinical presentation usually includes slowly progressive cerebellar ataxia, myoclonus-dystonia syndrome, cognitive impairment, and behavioral problems. Here, we reported the first patient with SCA21 presenting with a developmental and epileptic encephalopathy with seizure onset during late childhood, a seizure semeiology including atonic, clonic, myoclonic seizures, and absences with eyelid myoclonia and an EEG pattern characterized by diffuse spike and wave discharges. Epilepsy was associated with a progressive motor deterioration (the International Cooperative Ataxia Rating Scale-ICARS Total Ataxia score switched from 23/100 to 35/100 over a period of 2 years), a worsening of a preexisting tremor, and a disabling drowsiness. Nonverbal measure of intellectual functioning revealed a moderate intellectual disability (Leiter-R: brief IQ 40; fluid reasoning 52). The epileptogenic mechanisms involving TMEM240 might be correlated with disinhibition of excitotoxic networks due to the loss of Purkinje cells in the cerebellum, but also damage in neuronal bioenergetic pathways and synaptic vesicular trafficking within cortico-cerebellar and thalamo-cerebellar circuits.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144554049","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

Lateral Geniculate Body Involvement and Optic Atrophy in Acute Necrotizing Encephalopathy. 坏死性脑病的外侧膝状受累和视神经萎缩。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-14 DOI: 10.1055/a-2650-6950

Andrew Silverman

引用次数: 0

Five-Year Neurodevelopmental Outcome of Children Born Very Preterm Between 2012 and 2018. 2012年至2018年间极早产儿童5年神经发育结果

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-14 DOI: 10.1055/a-2643-4168

Verena M Sparr, Caroline F Willwohl, Barbara Fussenegger, Stefanie Gang, Burkhard Simma, Karin Konzett

{"title":"Five-Year Neurodevelopmental Outcome of Children Born Very Preterm Between 2012 and 2018.","authors":"Verena M Sparr, Caroline F Willwohl, Barbara Fussenegger, Stefanie Gang, Burkhard Simma, Karin Konzett","doi":"10.1055/a-2643-4168","DOIUrl":"https://doi.org/10.1055/a-2643-4168","url":null,"abstract":"To analyze neurodevelopmental outcome of children born very preterm (born 2012 to 2018) aged 5 years in Vorarlberg, Austria. To identify medical risk factors and compare with (inter)national data.In this population-based study with prospectively collected data very preterm children underwent neurodevelopmental assessment: Kaufman Assessment Battery for Children (KABC-II) for cognitive functioning, Movement Assessment Battery for Children (M-ABC-2) for motor skills, Strengths and Difficulties Questionnaire (SDQ) and Behavior Rating Inventory of Executive Function - Preschool Version (BRIEF-P) for deficits in behavior and executive functions. Risk factors were identified using multiple linear regression.The study population (n = 114, 46.5% completed follow-up) showed moderate to severe neurodevelopmental disability (KABC-II IQ score <70), mild (KABC-II IQ score 70-84, M-ABC-2 total score <7, SDQ total score >90th percentile or BRIEF-P Global Executive Function score T >65), and no neurodevelopmental disability in 2.9, 31.4, and 65.7% of the children, respectively. Results were more disadvantageous for children born extremely preterm than for very preterm born children. Regarding risk factors, abnormal hearing screening, male gender, and ICH grades 3-4 were associated with poorer cognitive and motor skills.In our state-wide cohort of very preterm children, we observed a small proportion of moderate to severe neurodevelopmental disabilities of 2.9%, whereby 65.7% had no disability at 5 years. Disadvantageous outcomes are more pronounced in extremely preterm children.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637594","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

Botulinum Toxin for Children: A Graphic Summary of 30 Years of Innovation and Practice - From a Single Case to More Than 130,000 Sessions. 儿童肉毒杆菌毒素：30年创新和实践的图解总结-从一个病例到超过13万次治疗。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-07-08 DOI: 10.1055/a-2639-5964

Marina Chiron, A Sebastian Schroeder, Steffen Berweck, Alexandra Sitzberger, Urban M Fietzek, Florian Heinen

引用次数: 0