Journal of Child Neurology最新文献_第3页

Comment on "Evaluating the Performance of the Modified Mini-Mental State Examination for Children (MMSEc) to Screen for Intellectual Disability in Children With and Without Epilepsy". 对“评估儿童简易精神状态检查（MMSEc）筛查有癫痫和无癫痫儿童智力残疾的效果”的评论。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-06 DOI: 10.1177/08830738251383181

Gül Yücel

引用次数: 0

Heading in Soccer Players and Neurologic Outcomes. 足球运动员头球和神经学结果。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-06 DOI: 10.1177/08830738251378592

Rachael S Mathew, Osvaldo Pangrazio, Francisco Forriol, Christopher Howard, Gustavo Rivas Martinez, Mildred Franco, Alcy R Torres

引用次数: 0

Valproic Acid-Associated von Willebrand Disease and Delayed-Onset Orbital Hematoma. 丙戊酸相关血管性血友病和延迟性眼眶血肿。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-06 DOI: 10.1177/08830738251381665

Bahram Eshraghi, Leila Babaei, Mohammadreza Zolfaghari, Farzad Kheirmand, Ali Aghajani

引用次数: 0

Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review. 与罕见的ATP1A3突变相关的阵发性肌张力障碍的异常表型变异：一个病例报告和回顾。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-04-10 DOI: 10.1177/08830738251327707

Martyna A Czylok, Milena Prokopiuk, Katarzyna Meller, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska

{"title":"Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review.","authors":"Martyna A Czylok, Milena Prokopiuk, Katarzyna Meller, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska","doi":"10.1177/08830738251327707","DOIUrl":"10.1177/08830738251327707","url":null,"abstract":"Paroxysmal dyskinesias, marked by sudden involuntary movements, poses diagnostic challenges because of its heterogeneous nature and overlap with other movement disorders. Genetic factors, especially variants in the ATP1A3 gene, have been linked to various neurologic conditions, including paroxysmal dystonia. We report a 5-year-old patient with a rare ATP1A3 gene variant (c.2309T>G, p.(Leu770Arg)), previously documented in only 1 other patient. Unlike the earlier report, the patient presented distinct clinical features, with a focus on dystonia rather than hemiplegia and no intellectual impairment. This phenotypic variability highlights the challenges in diagnosis and treatment. We discuss differential diagnoses, including Alternating Hemiplegia of Childhood, and emphasize the need for comprehensive genetic testing and multidisciplinary care. Our study advocates for further research to better understand the spectrum of ATP1A3-related disorders and enhance diagnostic accuracy and patient management in paroxysmal dystonia.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"794-798"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012323","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

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications. 超越拷贝数差异：15q11.2微缺失和微重复儿童的表型多样性

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-08-26 DOI: 10.1177/08830738251366862

Gunce Basarir, Irmak Erdogan, Berk Ozyilmaz, Pinar Gencpinar, Nihal Olgac Dundar

{"title":"Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.","authors":"Gunce Basarir, Irmak Erdogan, Berk Ozyilmaz, Pinar Gencpinar, Nihal Olgac Dundar","doi":"10.1177/08830738251366862","DOIUrl":"10.1177/08830738251366862","url":null,"abstract":"15q11.2 BP1-BP2 copy number variants involving NIPA1, NIPA2, CYFIP1, and TUBGCP5 genes may not warrant a clinical outcome because of the phenotypic variability and low penetrance. The study aims to provide a greater understanding of the phenotypic diversity associated with these copy number variants. We conducted a retrospective analysis of 37 pediatric patients with deletions or duplications in 15q11.2 BP1-BP2 region, and compared the results systemically with the previous literature. Of the 37 patients, 67.6% had microduplications and 32.4% had microdeletions. The mean copy number variant size was 482 ± 157 kb. Patients had a variety of phenotypes including neurodevelopmental delay, hypotonia, speech impairment, intellectual and learning disability, behavioral and psychiatric symptoms, epilepsy and seizures, neuroimaging abnormalities, and dysmorphism. These findings, in combination with previous reports, confirm that copy number variants in this region are linked to phenotypes ranging from normal to severe neurodevelopmental and neuropsychiatric features. Our data also confirm that microcephaly is a particularly prevalent phenotype in patients with microdeletions, rather than in those with microduplications.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"784-793"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144955734","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

Family-Centered Care for Children with Abusive Head Trauma. 虐待性头部创伤儿童的家庭关怀。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-08-21 DOI: 10.1177/08830738251364164

Celina Cerf, TjaMeika Purnell, Miya R Asato

引用次数: 0

Neurodiversity-Affirming Clinical Care: Principles and Pearls. 神经多样性-确认临床护理：原则和珍珠。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-05-29 DOI: 10.1177/08830738251340268

Talia Shear, Maya Ayoub, Diana Cejas, Alison Christy, Yolanda Holler-Managan, Uloma Labrie, Hannah King, Young-Min Kim

引用次数: 0

Cerebral Palsy in a Rural Desert Population of Southern Algeria: A Cross-Sectional Study of Epidemiology of Comorbidities and Unmet Needs. 阿尔及利亚南部农村沙漠人群的脑瘫：合并症和未满足需求的流行病学横断面研究。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-05-08 DOI: 10.1177/08830738251336486

Linda Bonezzi, Ilaria Accorinti, Francesca Maria Agostina Papoff, Maria Orsi, Giacomo D'Arcangelo, Emanuele Bartolini, Roberta Battini

{"title":"Cerebral Palsy in a Rural Desert Population of Southern Algeria: A Cross-Sectional Study of Epidemiology of Comorbidities and Unmet Needs.","authors":"Linda Bonezzi, Ilaria Accorinti, Francesca Maria Agostina Papoff, Maria Orsi, Giacomo D'Arcangelo, Emanuele Bartolini, Roberta Battini","doi":"10.1177/08830738251336486","DOIUrl":"10.1177/08830738251336486","url":null,"abstract":"BackgroundCerebral palsy is a group of nonprogressive motor disorders resulting from early brain development impairment. Its prevalence is higher in low- and middle-income countries, where health care resources are limited. Data on cerebral palsy in refugee settings remain scarce, particularly in regions marked by prolonged displacement.MethodsThis cross-sectional study examined 29 children with cerebral palsy in the Sahrawi refugee camps in Tindouf, Algeria. Detailed demographic, medical history, neurological findings, and comorbidity data were collected during outpatient visits conducted as part of a humanitarian mission.ResultsPerinatal distress was reported in 65.5% of cases. Motor impairments were significant, with only 44.8% able to walk and 20.7% lacking head control. Language delays (65.5%), feeding difficulties (65.5%), and epilepsy (52%) were highly prevalent. Diagnostic evaluations, such as magnetic resonance imaging (MRI) and electroencephalography (EEG), were scarce and inconsistent. Access to rehabilitation services was discontinuous, and pharmacologic treatments for spasticity and pain were unavailable. Environmental factors, such as sandy terrain, further complicated mobility.ConclusionCerebral palsy in the Sahrawi refugee camps reflects patterns seen in low- and middle-income countries but is exacerbated by displacement and resource scarcity. Improved access to early diagnosis, structured rehabilitation, and targeted pharmacologic therapies is urgently needed to address these unmet needs and improve outcomes for affected children.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"757-766"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12414107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007497","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

A Simple Intervention Improves Access to Telemedicine for Spanish-Speaking Families in an Outpatient Pediatric Epilepsy Clinic. 一个简单的干预提高了门诊小儿癫痫诊所西班牙语家庭远程医疗的可及性。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-05-14 DOI: 10.1177/08830738251337981

Pamela Pojomovsky McDonnell, Yessenia Ortiz, Nicholas S Abend, Michael C Kaufman, Julie Xian, Alexander K Gonzalez, Sara Molisani, Ingo Helbig

{"title":"A Simple Intervention Improves Access to Telemedicine for Spanish-Speaking Families in an Outpatient Pediatric Epilepsy Clinic.","authors":"Pamela Pojomovsky McDonnell, Yessenia Ortiz, Nicholas S Abend, Michael C Kaufman, Julie Xian, Alexander K Gonzalez, Sara Molisani, Ingo Helbig","doi":"10.1177/08830738251337981","DOIUrl":"10.1177/08830738251337981","url":null,"abstract":"Telemedicine has become an established modality of care in pediatric neurology since the COVID-19 pandemic made it a necessity. However, prominent barriers have persisted for socially vulnerable families, including non-English-speaking families. In a cohort of Spanish-speaking families, we assessed the effect of an educational intervention in improving patient portal activation and use of telemedicine by doing a retrospective observational study. Among the 69 families assessed, 42 did not receive intervention, including 74% who already had patient portals and 26% without portal activation, and none of those 11 families subsequently activated the portal or underwent telemedicine. Among 27 families who received the intervention, 85% activated the portal, including 87% who participated in telemedicine visits. Results did not achieve statistical significance for accessing telemedicine but did for activating the portal. We postulate that a simple, brief educational intervention was effective in increasing access to neurologic telemedicine care in non-English-speaking families.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"767-771"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078097","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

Depictions of Pediatric Neurologic Disability in Graphic Novels. 儿童神经功能障碍在图画小说中的描述。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-10-01 Epub Date: 2025-06-04 DOI: 10.1177/08830738251344998

Dorottya B Kacsoh, Maya C Ayoub, Diana Cejas, Danielle Guez Barber, Yolanda Holler-Managan, Young-Min Kim, Talia Shear, Jennifer Kim, Stacy Kitsis, Elinor Christy, Alison Christy

引用次数: 0