Journal of Child Neurology最新文献_第2页

Low- vs High-Frequency Responsive Neurostimulation Artifacts in Scalp Electroencephalogram. 头皮脑电图低频与高频反应性神经刺激伪影。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-04-30 DOI: 10.1177/08830738261444235

Tyler Heinrich, Sarah E Otterson, Pradeep Javarayee

引用次数: 0

Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series. Dravet综合征治疗在2q24.3缺失个体中的疗效：a -5患者病例系列

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-01-21 DOI: 10.1177/08830738251409585

Daniel T Kashima, Esther Yoon, Gemma L Carvill, Linda C Laux

{"title":"Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.","authors":"Daniel T Kashima, Esther Yoon, Gemma L Carvill, Linda C Laux","doi":"10.1177/08830738251409585","DOIUrl":"10.1177/08830738251409585","url":null,"abstract":"Dravet syndrome (DS) is a developmental and epileptic encephalopathy often resulting from haploinsufficiency of the voltage-gated sodium channel (VGSC) gene SCN1A located on chromosome 2q24.3. Although single-nucleotide changes account for the majority of cases, rare cases are due to 2q24.3 microdeletions involving SCN1A. The 2q24.3 region surrounding SCN1A contains a cluster of VGSC genes including SCN2A, SCN3A, SCN7A, and SCN9A. Prior publications reported larger 2q24.3 deletions affecting multiple VGSC genes being associated with a more severe phenotype. Consensus recommendations for epilepsy therapies do not exist for DS patients with 2q24.3 deletion involving other VGSC genes. To address this gap, we qualitatively assessed the therapy response in 5 patients with 2q24.3 microdeletions. We found evidence of efficacy for valproic acid, clobazam, and cannabidiol whereas levetiracetam and phenobarbital were not beneficial. Additional studies are necessary to examine the efficacy of fenfluramine and the ketogenic diet.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1331-1335"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13591556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146018580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Delayed-Onset Acute Chorea Following Anesthesia. 麻醉后迟发性急性舞蹈病。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-02-16 DOI: 10.1177/08830738261420286

Hande Gazeteci Tekin, Özgen Hür, Fatma Kuşgöz, Faruk İncecik

{"title":"Delayed-Onset Acute Chorea Following Anesthesia.","authors":"Hande Gazeteci Tekin, Özgen Hür, Fatma Kuşgöz, Faruk İncecik","doi":"10.1177/08830738261420286","DOIUrl":"10.1177/08830738261420286","url":null,"abstract":"ObjectiveWe aimed to present a patient who developed a severe chorea after orthopedic surgery, plausibly related to multiple anesthetic agents.CaseAn otherwise healthy 11-year-old girl developed choreiform movements and distressing behaviors (screaming, visual hallucinations) 24-36 hours after ankle-fracture surgery. With urgent stabilization needed and haloperidol not yet at an effective dose, continuous midazolam infusion provided prompt control. Other potential causes of chorea were excluded: brain magnetic resonance imaging and cerebrospinal fluid were normal; routine biochemistry and complete blood count were unremarkable; autoimmune encephalitis antibodies, antinuclear antibody, and anti-dsDNA were negative; anti-streptolysin O was not elevated, echocardiography was normal; throat culture and viral serologies were negative. After exclusion of alternative etiologies, the presentation was attributed to propofol and tramadol exposure (movement disorder component) with a paradoxical reaction to midazolam (psychiatric symptoms).ConclusionSuch adverse effects can occur after anesthesia and may appear in a delayed fashion, independent of drug half-lives. Benzodiazepine infusion can serve as an effective bridge/primary therapy in antipsychotic-refractory postoperative hyperkinesias of childhood.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1340-1343"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207080","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

Effective Short-Interval Intravenous Immunoglobulin Reinfusion in Steroid-Unresponsive Pediatric Myelin Oligodendrocyte Glycoprotein-Associated Disease. 短时间静脉免疫球蛋白再输注治疗儿童髓鞘少突胶质细胞糖蛋白相关疾病的疗效

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-03-10 DOI: 10.1177/08830738261425428

Divya Alagarsamy, Thulasiraj Saminathan, Vimalraj Vijayakumar, Harshavardhini Nagavelsekaran, Subash Sundar, Robert Wilson

{"title":"Effective Short-Interval Intravenous Immunoglobulin Reinfusion in Steroid-Unresponsive Pediatric Myelin Oligodendrocyte Glycoprotein-Associated Disease.","authors":"Divya Alagarsamy, Thulasiraj Saminathan, Vimalraj Vijayakumar, Harshavardhini Nagavelsekaran, Subash Sundar, Robert Wilson","doi":"10.1177/08830738261425428","DOIUrl":"10.1177/08830738261425428","url":null,"abstract":"Management of the acute phase in steroid-unresponsive patients of myelin oligodendrocyte glycoprotein-associated disease (MOGAD) remains challenging, especially when there is no clinical improvement following a course of intravenous immunoglobulin (IVIG) which necessitates the need for reinfusion. The optimal timing of IVIG reinfusion in acute phase of MOGAD is a subject of debate. A 13-year-old South Indian boy presented with acute-onset paraparesis with urinary retention that progressed to quadriparesis within a week. Spine magnetic resonance imaging (MRI) spine revealed longitudinally extensive transverse myelitis from D2 to D7, whereas MRI brain showed subcortical white matter hyperintensities. Serum testing was strongly positive for myelin oligodendrocyte glycoprotein antibodies. Owing to persistent functional deficits following a course of IVIG, a reinfusion was administered at an interval of less than 2 weeks, shorter than the usual 3-4-week interval (corresponding to the half-life of IVIG) maintaining the presence and effectiveness of IVIG, leading to dramatic clinical improvement within a month.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1348-1352"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147390064","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

The Importance of Accessible, Patient-Focused Language in the Age of the Electronic Medical Record. 无障碍的，以病人为中心的语言在电子医疗记录时代的重要性。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-07-07 DOI: 10.1177/08830738261461670

Julia Totten, Nilaksa Sivanenthiran, Tuba Rashid Khan

引用次数: 0

Post-traumatic Hypertrophic Olivary Degeneration with Palatal Myoclonus-A Case Report. 创伤后增生性橄榄变性伴腭肌阵挛1例报告。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-03-03 DOI: 10.1177/08830738261417414

Katherine Bailey, Jacob T Hanson, Suad Khalil

引用次数: 0

Early Detection of Cerebral Palsy Using Standardized Screening Assessments in Neonatal Hypoxic Ischemic Encephalopathy: A Pilot Case Series. 在新生儿缺氧缺血性脑病中使用标准化筛查评估早期发现脑瘫：一个试点病例系列。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-02-13 DOI: 10.1177/08830738251413829

Mallory Kerner-Rossi, William Gomes, Tristan Sands, Jennifer M Bain, Faith Kim

{"title":"Early Detection of Cerebral Palsy Using Standardized Screening Assessments in Neonatal Hypoxic Ischemic Encephalopathy: A Pilot Case Series.","authors":"Mallory Kerner-Rossi, William Gomes, Tristan Sands, Jennifer M Bain, Faith Kim","doi":"10.1177/08830738251413829","DOIUrl":"10.1177/08830738251413829","url":null,"abstract":"Prechtl's General Movement Assessment (GMA) and the Hammersmith Infant Neurological Exam (HINE) are recommended for early detection of cerebral palsy (CP) in high-risk infants. These tools are well validated in premature infants but less well studied in the high-risk term population. We sought to determine the added prognostic value of incorporating GMA and HINE assessment in term- and near-term infants with hypoxic ischemic encephalopathy (HIE) who underwent therapeutic hypothermia (TH). In this retrospective and prospective pilot case series of 20 neonates with HIE that were treated with TH, we analyzed the associations between HIE severity, early clinical course, electroencephalography (EEG) background, and magnetic resonance imaging (MRI) injury pattern, with performance on the GMA and HINE. Absence of fidgety movements was significantly associated with severity of EEG background and was most concordant with gray matter injury score on MRI. There were no significant associations between 3-month HINE scores and any clinical measure. Three-month HINE scores were overall lower than published norms for age and tended to normalize over time in patients that had normal fidgety movements. Although the generalizability of these findings is limited because of the small sample size and lack of long-term outcomes, they support incorporation of the GMA as an early outcome in the follow-up of this population for accurate early identification of CP, which is complemented by longitudinal HINE scores for further delineation of severity and topography.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1301-1310"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146194785","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

Epilepsy in Epidermal Nevus Syndromes: Review. 表皮痣综合征中的癫痫：综述。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-05-19 DOI: 10.1177/08830738261443284

Odette El Ghawi, Praveen Kumar Ramani

{"title":"Epilepsy in Epidermal Nevus Syndromes: Review.","authors":"Odette El Ghawi, Praveen Kumar Ramani","doi":"10.1177/08830738261443284","DOIUrl":"10.1177/08830738261443284","url":null,"abstract":"Knowledge in the spectrum of epidermal nevi and epidermal nevus syndrome has been elaborated on and expanded rapidly through the years. In this review, we provide a comprehensive overview of the neurologic manifestations of epidermal nevus syndromes (ENS), with a particular focus on epilepsy, which represents one of the most disabling and frequent systemic complications. Although ENS comprises a heterogeneous group of neurocutaneous syndromes unified by the presence of epidermal hamartomas and extracutaneous involvement, the relationship between genotype, cutaneous phenotype, and seizure phenotype remains incompletely understood. We systematically outline the epileptogenic potential of the 10 well-characterized ENS subtypes, highlighting the distinct seizure types, electroencephalographic findings, and associated structural brain anomalies such as hemimegalencephaly, cortical dysplasia, and neuronal heterotopias. Particular emphasis is placed on subtypes with a high seizure burden, including keratinocytic epidermal nevus syndrome, nevus sebaceus syndrome, phakomatosis pigmentokeratotica, nevus comedonicus syndrome, and angora hair nevus syndrome. For each, we examine the available evidence on seizure semiology, electroencephalographic correlates, radiologic features, and outcomes. Additionally, we review current management strategies, including both medical and surgical approaches to epilepsy in ENS, and discuss the emerging role of molecular targeted therapies. Through this review, we aim to underscore the importance of early diagnostic evaluation in patients presenting with epidermal nevi and to support multidisciplinary approaches for seizure control and long-term neurologic outcomes.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1365-1376"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972885","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

Post-infectious Basal Ganglia Encephalitis Caused by Mumps: A Case Series. 流行性腮腺炎引起的感染后基底神经节脑炎：一个病例系列。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-03-10 DOI: 10.1177/08830738261422782

Mahesh Kamate, Gayatri Pawar, Virupaxi Hattiholi

引用次数: 0

Hyperintensity on Diffusion-Weighted Imaging in a MELAS Patient Does Not Necessarily Mean Cytotoxic Edema. MELAS患者弥散加权成像上的高强度不一定意味着细胞毒性水肿。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-07-02 DOI: 10.1177/08830738261463070

Josef Finsterer

引用次数: 0