Journal of Child Neurology最新文献_第5页

Pediatric-Onset Multiple Sclerosis in Multiple Autoimmune Syndrome: Reporting This Rare Entity in 2 Pediatric Patients. 小儿发病多发性硬化症合并多发性自身免疫综合征：2例小儿罕见病例报告

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-02-06 DOI: 10.1177/08830738261416620

Evangelia Bechlivani, Konstantinos Notas, Efterpi Pavlidou, Martha Spilioti, Laura Bani Odeh, Evangelos Pavlou, Dimitrios Zafeiriou, Athanasios Evangeliou

{"title":"Pediatric-Onset Multiple Sclerosis in Multiple Autoimmune Syndrome: Reporting This Rare Entity in 2 Pediatric Patients.","authors":"Evangelia Bechlivani, Konstantinos Notas, Efterpi Pavlidou, Martha Spilioti, Laura Bani Odeh, Evangelos Pavlou, Dimitrios Zafeiriou, Athanasios Evangeliou","doi":"10.1177/08830738261416620","DOIUrl":"10.1177/08830738261416620","url":null,"abstract":"Multiple autoimmune syndrome (MAS) is characterized by the coexistence of 3 or more autoimmune disorders in the same individual and is exceptionally rare in childhood. Pediatric-onset multiple sclerosis (POMS) represents 3% to 5% of all multiple sclerosis (MS) cases and is increasingly recognized within the broader spectrum of immune-mediated diseases. We describe 2 pediatric patients fulfilling MAS criteria in association with POMS-one with type 1 diabetes mellitus and autoimmune thyroiditis, and another with rheumatoid arthritis and autoimmune thyroiditis. Both exhibited HLA-DRB1*15:01 positivity, Epstein-Barr virus IgG seropositivity, and severe vitamin D deficiency, suggesting shared immunogenetic and environmental risk factors. These cases highlight the potential of POMS to manifest as part of a systemic autoimmune diathesis. Early recognition, proactive screening, and multidisciplinary management are essential. Further multicenter studies and registry-based data are needed to clarify the prevalence, mechanisms, and prognostic implications of MAS in pediatric MS.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1206-1209"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146131810","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

Transition Readiness and Care Needs Among Youth With Neuroimmune Disorders: A Descriptive Survey Study. 青少年神经免疫疾病患者的过渡准备和护理需求：一项描述性调查研究。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-01-06 DOI: 10.1177/08830738251408103

Duriel Hardy

{"title":"Transition Readiness and Care Needs Among Youth With Neuroimmune Disorders: A Descriptive Survey Study.","authors":"Duriel Hardy","doi":"10.1177/08830738251408103","DOIUrl":"10.1177/08830738251408103","url":null,"abstract":"Transition of care (TOC) poses challenges across medical subspecialties, each with distinct patient needs. Understanding patient and caregiver awareness and readiness within specific patient populations is essential for developing effective population-specific TOC programs. Limited data exist describing TOC readiness in patients with neuroimmune disorders. We conducted a cross-sectional survey on youth with neuroimmune disorders and their caregivers assessing TOC readiness, challenges, and support needs. Thirty-one participants completed the survey (39% Hispanic, 29% Caucasian, 19% African American). Respondents with MOG antibody-associated disease (29%), multiple sclerosis (26%), and anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis (10%) were represented in this study. Eighty-three percent of caregivers reported their child was not ready for transition, whereas 32% of patients described feeling curious about TOC. The primary concern for both patients (53%) and caregivers (65%) was that adult providers would be unfamiliar with the patient's history. The most common patient-perceived readiness gaps included lack of knowledge of clinic information (81%), not having an emergency plan (77%), and poor understanding of insurance changes (81%). The most frequent patient-reported facilitators were access to an educational curriculum (35%) or a dedicated transition appointment (35%). More than half of patients (52%) and caregivers (61%) preferred a continuity-provider TOC model, and most supported participation in TOC support groups (55% of patients, 87% of caregivers). To conclude, significant gaps exist in TOC readiness among the neuroimmune disorder population. Key facilitators include structured education, provider continuity, and support programming-elements that could strengthen preparedness, reduce care disruption, and increase confidence in navigating adult health care systems.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1170-1178"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13421155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145911856","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

Why Are Neurology Medications So Expensive? 为什么神经学药物如此昂贵？

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 DOI: 10.1177/08830738261483517

Tia Chakrapani

引用次数: 0

Narrative Medicine Competencies in Intellectual Disability Rehabilitation-A Narrative Review. 智障康复中的叙事医学能力研究综述

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-04-07 DOI: 10.1177/08830738261434716

Liuyan Zhu, Tianmiao Gu, Lina Lv, Dan Yao

{"title":"Narrative Medicine Competencies in Intellectual Disability Rehabilitation-A Narrative Review.","authors":"Liuyan Zhu, Tianmiao Gu, Lina Lv, Dan Yao","doi":"10.1177/08830738261434716","DOIUrl":"10.1177/08830738261434716","url":null,"abstract":"Narrative medicine originated more than 20 years ago and focuses on integrating clinical expertise with patients' personal experiences of suffering through narrative techniques, thus complementing evidence-based medicine. Personal storytelling is essential for children's social and academic growth. Intellectual disabilities, one of the primary causes of childhood disability globally, result from a complex interplay of genetic and environmental factors. Rehabilitation encompasses multiple domains of function, including physical, psychological, and social adaptation. Conventional models typically prioritize physical gains while overlooking families' emotional needs and the personal significance of functional improvement, limiting meaningful engagement. Consequently, this review explores educational strategies to enhance rehabilitation professionals' narrative competence in caring for children with intellectual disabilities. It offers practical recommendations for cultivating narrative skills, proposes an emotional support framework to improve rehabilitation adherence, and serves as a reference for establishing a robust narrative competence curriculum within medical education.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1210-1219"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627974","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

Navigating the Uncommon: "Juvenile-Onset Huntington Disease". 导航不寻常：“青少年发病亨廷顿病”。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-19 DOI: 10.1177/08830738251396171

Anmol Aatli, Smriti Saryan, Rachna Sehgal, Archana Kashyap, Arpita Gupta

引用次数: 0

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants. 从严重的新生儿脑病到缓慢的神经进行性疾病：丙酮酸脱氢酶缺乏与PDHA1变异相关

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-23 DOI: 10.1177/08830738251404115

Sofia Corbaz, Daniela Alejandra Pibernus, Mariana Amina Loos, María Mercedes Pérez, María Celeste Buompadre, Francisco Martín García, María Paula Rodriguez, Carlos Rugilo, Marisa Armeno, Go Hun Seo, Rin Khang, Cristina Noemi Alonso, Hilda Verónica Aráoz

{"title":"From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.","authors":"Sofia Corbaz, Daniela Alejandra Pibernus, Mariana Amina Loos, María Mercedes Pérez, María Celeste Buompadre, Francisco Martín García, María Paula Rodriguez, Carlos Rugilo, Marisa Armeno, Go Hun Seo, Rin Khang, Cristina Noemi Alonso, Hilda Verónica Aráoz","doi":"10.1177/08830738251404115","DOIUrl":"10.1177/08830738251404115","url":null,"abstract":"Pyruvate dehydrogenase complex (PDC) deficiency is a rare mitochondrial disorder characterized by impaired oxidative metabolism, predominantly due to pathogenic variants in the PDHA1 gene. We present the clinical, biochemical, radiologic, and molecular characterization of 4 Argentine pediatric patients with PDHA1-related PDC deficiency, including a novel missense variant, c.260T>C p.(Ile87Thr). Clinical presentations ranged from severe neonatal encephalopathy with central apneas to a more slowly progressive neurodegenerative course in childhood. All patients exhibited lactic acidosis and structural brain abnormalities, with 3 fulfilling criteria for Leigh syndrome. Molecular studies identified 4 missense variants located in conserved regions of the E1α subunit. In silico analysis of the novel p.(Ile87Thr) variant suggested impaired thiamine pyrophosphate binding. All patients received thiamine and a ketogenic diet, with favorable outcomes in seizure control, neurodevelopment, and metabolic stability. Our findings expand the clinical and molecular spectrum of PDHA1-related PDC deficiency and underscore the importance of early diagnosis and targeted metabolic therapy. Furthermore, we report a previously undescribed radiologic pattern in one patient and propose potential structural implications of the novel variant based on protein modeling.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1119-1131"},"PeriodicalIF":1.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145810411","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

Fetal Dural Sinus Malformation: Prenatal Diagnosis and Follow-up With Thrombus Resolution and Associated Developmental Venous Anomalies. 胎儿硬脑膜窦畸形：产前诊断和随访血栓消退和相关的发育静脉异常。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-04-03 DOI: 10.1177/08830738261433220

Mateus A Esmeraldo, Stefanie Chambers, Ana Filipa Geraldo, Hisham M Dahmoush, Bruno P Soares

引用次数: 0

Transient Hemichorea Associated With Mitochondrial Metabolic Stroke. 短暂性血凝与线粒体代谢性卒中相关。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-04-25 DOI: 10.1177/08830738261441098

Yun-Jung Huang, Wei-Sheng Lin

引用次数: 0

Cilostazol in a Child With Moyamoya Disease. 西洛他唑治疗儿童烟雾病

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2026-01-08 DOI: 10.1177/08830738251408110

Alizah A Patterson, Sarah K D Vogel, April Sharp, Risheng Xu, Alan Cohen, Lisa R Sun

引用次数: 0

Reversible Cerebral Vasoconstriction Syndrome Triggered by Whole-Body Cryotherapy in a Teenager. 青少年全身冷冻疗法引发的可逆性脑血管收缩综合征。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2026-09-01 Epub Date: 2025-12-26 DOI: 10.1177/08830738251408116

Marina Dantas, Kasparas Zilinskas, Christina Shen, Andrea Summer

引用次数: 0