Journal of Child Neurology最新文献_第3页

The Ketogenic Diet: Three Decades Later. 生酮饮食：三十年后。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-06-04 DOI: 10.1177/08830738261450750

Eric H Kossoff, Zahava Turner, Adam L Hartman

引用次数: 0

Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature. SLC18A2突变相关疾病的基因型谱扩展——一种新的突变及文献综述

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-10-01 Epub Date: 2026-03-10 DOI: 10.1177/08830738261416724

Sophia Brewer, Praveen Kumar Ramani, Kapil Arya

{"title":"Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.","authors":"Sophia Brewer, Praveen Kumar Ramani, Kapil Arya","doi":"10.1177/08830738261416724","DOIUrl":"10.1177/08830738261416724","url":null,"abstract":"Brain monoamine vesicular transporter deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the SLC18A2 gene, which encodes vesicular monoamine transporter 2 (VMAT2). VMAT2 is essential for packaging neurotransmitters such as dopamine, serotonin, norepinephrine, and histamine into synaptic vesicles. Its deficiency results in disrupted neurotransmission and a characteristic clinical syndrome involving developmental delay, hypotonia, movement disorders, and autonomic dysfunction. We report a novel homozygous frameshift variant, Chr10:119014792dupC (p.Phe238LeufsTer7), identified in a 5-month-old male from a consanguineous family, who presented with severe hypotonia, oculogyric crises, and developmental delay. This variant expands the known genotypic spectrum of SLC18A2-related disease. Our findings underscore the importance of early genetic testing in infants with unexplained movement disorders and support a multidisciplinary approach to care. We also compare this case to related neurometabolic disorders with overlapping clinical features and with prior SLC18A2 mutation-related disorder.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1358-1364"},"PeriodicalIF":1.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147390093","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

Applying a Health Equity Lens to Pediatric Neurology Research: Lessons Learned From an Educational Workshop. 将健康公平的镜头应用于儿童神经病学研究：从教育研讨会吸取的经验教训。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-16 DOI: 10.1177/08830738261467844

Laura Kirkpatrick, Marisela E Dy-Hollins, Jordan Janae Cole, Jennifer H Yang, Maya C Ayoub, Temitayo Oyegbile-Chidi, Senyene Hunter

{"title":"Applying a Health Equity Lens to Pediatric Neurology Research: Lessons Learned From an Educational Workshop.","authors":"Laura Kirkpatrick, Marisela E Dy-Hollins, Jordan Janae Cole, Jennifer H Yang, Maya C Ayoub, Temitayo Oyegbile-Chidi, Senyene Hunter","doi":"10.1177/08830738261467844","DOIUrl":"https://doi.org/10.1177/08830738261467844","url":null,"abstract":"Health disparities are increasingly important considerations in clinical practice and public health initiatives. Health disparities and health equity research methods are under-utilized in research design, analysis, and dissemination in pediatric neurology. This article highlights our collective experience in organizing a 1-hour workshop on \"Applying a Health Equity Lens to Pediatric Neurology Research\" at the 54th Annual Child Neurology Society Meeting. The topics covered included (1) use of theories, models, and frameworks from dissemination and implementation science for health equity; (2) community engagement and qualitative research methods in health equity research; (3) recruitment of representative populations in research studies; (4) social determinants of health, data collection tools, and indices used in research; and (5) integrating health equity research into a research career. This article describes session content and summarizes participant survey data. It also provides future directions and recommendations for integrating health equity into pediatric neurology research.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261467844"},"PeriodicalIF":1.6,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148976968","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

Phenylbutyrate-Responsive SLC6A1-Related Neurodevelopmental Disorder Associated With a Familial Variant. 苯丁酸反应性slc6a1相关神经发育障碍与家族变异相关。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-12 DOI: 10.1177/08830738261484306

Odette El Ghawi, Eniya Beemarajan, Debopam Samanta, Praveen Kumar Ramani

{"title":"Phenylbutyrate-Responsive SLC6A1-Related Neurodevelopmental Disorder Associated With a Familial Variant.","authors":"Odette El Ghawi, Eniya Beemarajan, Debopam Samanta, Praveen Kumar Ramani","doi":"10.1177/08830738261484306","DOIUrl":"https://doi.org/10.1177/08830738261484306","url":null,"abstract":"SLC6A1-related neurodevelopmental disorder is a synaptopathy characterized by developmental delay, epilepsy, and neurobehavioral manifestations with marked phenotypic variability. Variants impair γ-aminobutyric acid (GABA) transporter-1 (GAT-1) folding and trafficking, reducing inhibitory neurotransmission and promoting hyperexcitability. Pharmacologic chaperones such as 4-phenylbutyrate (4-PBA) may restore GAT-1 function. We report a 3-generation family harboring a heterozygous SLC6A1 variant with segregating neurodevelopmental and epileptic phenotypes. The proband presented with drug-resistant developmental and epileptic encephalopathy, multiple seizure types, diffuse epileptiform abnormalities, and global developmental delay. Segregation analysis demonstrated co-segregation of the variant with epilepsy and neurodevelopmental features across affected relatives. Because of persistent seizures despite antiseizure medications, glycerol phenylbutyrate (GPB), a prodrug of 4-PBA, was initiated, resulting in complete seizure freedom and reduction of epileptiform discharges on follow-up electroencephalography. These findings highlight the potential role of genotype-informed precision therapy in SLC6A1-related disorders and underscore the importance of careful variant interpretation in familial cases.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261484306"},"PeriodicalIF":1.6,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955708","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

Caring Across Languages: Clinician Perceptions of Variability in US Pediatric Outpatient Epilepsy Care. 跨语言关怀：临床医生对美国儿科门诊癫痫护理变异性的看法。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-11 DOI: 10.1177/08830738261484301

Christina Briscoe, Laura Kirkpatrick, Maria A Planchart Ferretto, Rebecca Garcia Sosa, Christopher W Beatty, Gretchen M Berrios-Siervo, Avantika Singh, Joanna Garcia Pierce, Alisa Khan, Alyssa Coffin, Marcella Luercio, Bianca Quiñones-Pérez, Debopam Samanta, David N Williams, Tobias Loddenkemper, Qian-Zhou JoJo Yang, Alcy R Torres, Karen Skjei

{"title":"Caring Across Languages: Clinician Perceptions of Variability in US Pediatric Outpatient Epilepsy Care.","authors":"Christina Briscoe, Laura Kirkpatrick, Maria A Planchart Ferretto, Rebecca Garcia Sosa, Christopher W Beatty, Gretchen M Berrios-Siervo, Avantika Singh, Joanna Garcia Pierce, Alisa Khan, Alyssa Coffin, Marcella Luercio, Bianca Quiñones-Pérez, Debopam Samanta, David N Williams, Tobias Loddenkemper, Qian-Zhou JoJo Yang, Alcy R Torres, Karen Skjei","doi":"10.1177/08830738261484301","DOIUrl":"https://doi.org/10.1177/08830738261484301","url":null,"abstract":"Little is known about outpatient language access practices in the United States for children with epilepsy whose families use languages other than English (LOE) for medical care. The Pediatric Epilepsy Research Consortium (PERC) aimed to characterize clinician perceptions of institutional practices by developing and conducting a descriptive survey. We weighted statistical outcomes to equally represent clinician opinion from each center and conducted deductive thematic analysis of open-ended responses. One hundred clinicians from 40 institutions (53.3% institutional response rate) completed the survey. Access to both interpretation and translation services was uneven across PERC institutions. Seizure action plans in all common LOE were available at 15.2% of centers. Despite access to professional interpreters, 61.2% reported using nonprofessional interpretation at times. Qualitative themes included clinician burden, necessary resources, language certification practices, nonprofessional interpretation, translation delays, languages of lesser diffusion, technology use, trust in remote interpretation, language concordance, and perceptions of certification requirements. Findings highlight the need for interventions and guidelines to promote language-access for children with epilepsy whose families use LOE.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261484301"},"PeriodicalIF":1.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944828","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

Malignant Intracranial Pressure Elevation in MOGAD Meningoencephalitis. MOGAD脑膜脑炎的恶性颅内压升高。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-11 DOI: 10.1177/08830738261485656

Celeste R S Camargo, Amanda Spinner, Vikram Bhise

引用次数: 0

Comment on Juvenile Myoclonic Epilepsy in Children and Adolescents: The Effect of Antiseizure Medications on Cognitive Functions. 儿童和青少年肌阵挛性癫痫：抗癫痫药物对认知功能的影响

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-10 DOI: 10.1177/08830738261487232

Areesha Adnan, Hafsa Shehzadi, Zainab Saeed, Anzila Fatima, Muhammad Saim

引用次数: 0

Ovarian Teratoma After Treatment for Coexisting Anti-NMDA Receptor and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Encephalitis. 卵巢畸胎瘤并发抗nmda受体和髓鞘少突胶质细胞糖蛋白抗体相关性脑炎治疗后。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-07 DOI: 10.1177/08830738261484773

Kohei Matsubara, Ichiro Kuki, Kohei Yamakawa, Risako Ishioka, Masataka Fukuoka, Megumi Nukui, Takeshi Inoue, Naomi Ishii, Yuichi Takama, Hiroshi Sakuma, Shin Okazaki

{"title":"Ovarian Teratoma After Treatment for Coexisting Anti-NMDA Receptor and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Encephalitis.","authors":"Kohei Matsubara, Ichiro Kuki, Kohei Yamakawa, Risako Ishioka, Masataka Fukuoka, Megumi Nukui, Takeshi Inoue, Naomi Ishii, Yuichi Takama, Hiroshi Sakuma, Shin Okazaki","doi":"10.1177/08830738261484773","DOIUrl":"https://doi.org/10.1177/08830738261484773","url":null,"abstract":"Anti-N-methyl-d-aspartate receptor encephalitis (NMDARE) is an autoimmune encephalitis often associated with ovarian teratomas in adults but rarely in children. Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) typically occurs in pediatric populations and may occasionally coexist with NMDARE. We report the case of a 6-year-old girl diagnosed with concurrent NMDARE and MOGAD. She presented with psychiatric symptoms and oral dyskinesia, and her magnetic resonance imaging findings were compatible with both NMDARE and MOGAD. Anti-NMDAR antibodies were detected in the cerebrospinal fluid, and anti-MOG antibodies were detected in the serum. Despite treatment with intravenous methylprednisolone and intravenous immunoglobulin, her symptoms persisted until plasma exchange and rituximab therapy, after which improvement was observed. Although no neoplastic lesion was identified during the acute phase, follow-up screening revealed a right ovarian teratoma 6 months after onset. Histopathology demonstrated neural tissue positive for both NR1 and MOG, along with infiltration of CD4-, CD8-, and CD68-positive cells. Few CD20-positive cells were observed, possibly reflecting prior rituximab therapy. To date, patients positive for both anti-NMDAR and anti-MOG antibodies have not been reported to have an associated ovarian teratoma. This is the first case of overlapping NMDARE and MOGAD with a posttreatment ovarian teratoma. Our findings highlight the importance of continued tumor surveillance in such cases, even in pediatric patients with coexisting antibodies.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261484773"},"PeriodicalIF":1.6,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900788","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

Neonatal Oculomotor, Optomotor, Vestibulo-ocular, Protective Blink, and Pupillary Light Reflexes Following Perinatal Brain Trauma: Implications for Early Visual Rehabilitation in Mild Traumatic Brain Injury and Concussion. 围产期脑外伤后新生儿眼动、视动、前庭-眼、保护性眨眼和瞳孔光反射：对轻度创伤性脑损伤和脑震荡患者早期视力康复的影响。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-06 DOI: 10.1177/08830738261480397

Tamara Petrosyan, Suelen Abril Cruz

{"title":"Neonatal Oculomotor, Optomotor, Vestibulo-ocular, Protective Blink, and Pupillary Light Reflexes Following Perinatal Brain Trauma: Implications for Early Visual Rehabilitation in Mild Traumatic Brain Injury and Concussion.","authors":"Tamara Petrosyan, Suelen Abril Cruz","doi":"10.1177/08830738261480397","DOIUrl":"https://doi.org/10.1177/08830738261480397","url":null,"abstract":"Perinatal brain trauma, including hypoxic-ischemic encephalopathy and mechanical injury during pregnancy, labor, or delivery, represents an early-acquired brain injury that disrupts the identical subcortical, brainstem, cerebellar, and emerging cortical visual, oculomotor, and vestibulo-ocular pathways commonly impaired in mild traumatic brain injury (mTBI) or concussion. This topical review examines five key neonatal reflexes: optomotor (optokinetic nystagmus [OKN], head-turning, fix-and-follow), oculomotor (reflexive saccades, doll's eye), vestibulo-ocular (VOR), pupillary light (PLR including relative afferent pupillary defect and alpha-omega pupil), and protective blink reflexes, as rapid, non-invasive biomarkers of pathway integrity in newborns. These hardwired reflexes, robust at birth but cortically refined by 3-6 months, are highly vulnerable to perinatal trauma; their absence, asymmetry, or failure to mature signals risk for cortical visual impairment and gaze instability that mirror post-concussion symptoms. We highlight syndromic red-flag clusters, behavioral state considerations for testing, and immediate infant-adapted visual rehabilitation strategies (fixation/pursuit training, OKN stimulation, vestibular exercises) during the critical 0- to 6-month sensitive period. By linking neonatal reflex assessment to mTBI rehabilitation frameworks, this review supports proactive, life span-oriented intervention in pediatric neurology and neuro-optometry/ophthalmology.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261480397"},"PeriodicalIF":1.6,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897383","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

Multivariate Risk-Factor Analysis of Short-Term Poor Prognosis in Children With Autoimmune Encephalitis. 自身免疫性脑炎患儿短期不良预后的多因素危险因素分析

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-01-05 DOI: 10.1177/08830738251396175

Ruirui Zhai, Shuqian Zhang, Meiyan Wu

{"title":"Multivariate Risk-Factor Analysis of Short-Term Poor Prognosis in Children With Autoimmune Encephalitis.","authors":"Ruirui Zhai, Shuqian Zhang, Meiyan Wu","doi":"10.1177/08830738251396175","DOIUrl":"10.1177/08830738251396175","url":null,"abstract":"BackgroundAutoimmune encephalitis in children is a severe immune-mediated disorder with significant neuropsychiatric manifestations and long-term morbidity. Despite advances in immunotherapy, poor short-term prognosis remains a challenge, necessitating identification of prognostic factors for optimized interventions.MethodsThis retrospective study analysed 96 pediatric autoimmune encephalitis patients from a single center. Demographic, clinical, and laboratory data were compared between good (n = 60) and poor (n = 36) prognosis groups. Statistical analyses included univariate tests, multivariate logistic regression, and receiver operating characteristic curve evaluation.ResultsUnivariate analysis identified autonomic symptoms, status epilepticus, impaired consciousness, infection, fever, abnormal MRI, and elevated cerebrospinal fluid cell counts as significant predictors. Multivariate analysis confirmed MRI abnormalities (odds ratio [OR] = 4.39), infection (OR = 3.03), autonomic symptoms (OR = 4.09), disorders of consciousness (OR = 4.29), and fever (OR = 3.69) as risk factors. The combined receiver operating characteristic model achieved an area under the curve of 0.816 (sensitivity 72.22%, specificity 83.33%), outperforming individual predictors.ConclusionMultivariate analysis identified abnormal MRI findings, infections, fever, autonomic symptoms, and impaired consciousness as independent predictors of poor short-term prognosis in children with autoimmune encephalitis.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1152-1162"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145906019","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