Journal of Child Neurology最新文献

{"title":"Adverse Effects of Cenobamate in Pediatric Epilepsy: Demographic Considerations.","authors":"Brooke K Iwamoto, Ashley M Whitaker, Latanya D Agurs, Michele M Van Hirtum-Das, Madeline D Kahan, Brittany Jordan, Leanne Mendoza, Sucheta M Joshi, Jenna A Chiang","doi":"10.1177/08830738251357348","DOIUrl":"https://doi.org/10.1177/08830738251357348","url":null,"abstract":"<p><p>This study explores trends and potential risk factors among pediatric patients with drug-resistant epilepsy who were prescribed cenobamate by their epileptologist. Twenty-four patients (54.2% female) with drug-resistant (62.5% focal) epilepsy were administered cenobamate (mean = 13.27 years, standard deviation [SD] = 4.91 years) after failing multiple antiseizure medications (mean = 4.83, SD = 2.94). Fifty percent reported improved seizure frequency, although more than half the sample experienced physiological (n = 12, 50%) and/or psychiatric (n = 4, 16.7%) adverse events, with 39% rapidly discontinuing cenobamate (mean = 4.00 months, SD = 3.21) because of intolerable physiological (n = 4, 57.1%) and/or psychiatric adverse events (n = 3, 42.9%). Of those experiencing a psychiatric adverse event, all but 1 (75%) discontinued cenobamate, as compared to discontinuation by only 40% of those experiencing a physiological adverse event (n = 10). Psychiatric adverse events were significantly associated with sex (100% female), χ²(1, N = 24) = 4.06, <i>P</i> = .04. Preliminary analyses also suggest older age (adolescence) may increase risk for psychiatric adverse events of cenobamate among patients with pediatric epilepsy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251357348"},"PeriodicalIF":1.6,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731176","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}

{"title":"Global Research Progress of Mitochondria and Hypoxic-Ischemic Encephalopathy: A Comprehensive Bibliometric Analysis.","authors":"Liyan Luo, Hong Zhang, Qiaozhi Jiang, Shaohe Hei, Min Li, Wenlong Zhang, Pengcheng Yang, Sixiang He, Feng Jiang, Qian Wang","doi":"10.1177/08830738251352218","DOIUrl":"https://doi.org/10.1177/08830738251352218","url":null,"abstract":"<p><p>BackgroundHypoxic-ischemic encephalopathy is a serious neurologic condition caused by reduced blood and oxygen supply to the brain, typically occurring during birth. Mitochondria play a crucial role in the pathophysiological mechanisms of hypoxic-ischemic encephalopathy, yet a comprehensive bibliometric analysis of this research area is lacking. This study aims to identify research hotspots and trends related to mitochondria and hypoxic-ischemic encephalopathy through a detailed bibliometric analysis.MethodsWe searched the Web of Science Core Collection for studies on hypoxic-ischemic encephalopathy and mitochondria published between 2004 and 2024. Using VOSviewer, Citespace, and the R package \"bibliometrix,\" we conducted a comprehensive analysis to explore research trends, key topics, and collaborations.ResultsA total of 162 eligible articles were identified. The annual number of publications has increased over time, with peaks in recent years. The top contributing countries were China, the United States, and the United Kingdom, showing extensive international collaborations. Major institutions include Augusta University, Southern Medical University, and the University of the Basque Country. The leading journals were the <i>International Journal of Molecular Sciences</i> and <i>Neurobiology of Disease</i>. Keyword analysis highlighted neuroprotection, apoptosis, oxidative stress, and ferroptosis as primary research themes. Influential references with strong citation bursts were identified, indicating their impact on the field.ConclusionThis is the first bibliometric analysis of research on mitochondria and hypoxic-ischemic encephalopathy, highlighting key trends and hotspots. Our findings provide valuable insights into the development and direction of research in this field and emphasize the importance of mitochondria in understanding and potentially mitigating the impacts of hypoxic-ischemic encephalopathy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251352218"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731177","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}

{"title":"Pathogenic Variants in <i>MPDZ</i> are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.","authors":"Warren Stopak, Kelly A Keener, Vinod K Misra","doi":"10.1177/08830738251353005","DOIUrl":"https://doi.org/10.1177/08830738251353005","url":null,"abstract":"<p><p>Pathogenic variants in <i>MPDZ</i> are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in <i>MPDZ</i>, c.2650-1G>A in both siblings. These siblings present with features suggesting that <i>MPDZ</i> pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that <i>MPDZ</i> influences common morphogenetic pathways underlying these relationships.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251353005"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731179","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}

{"title":"Indomethacin-Responsive Headaches in Children and Adolescents: A Pearls and Pitfalls Case Series.","authors":"Ashley K Miller, Christopher T Jackman, Eric M Remster, Mathew A Stokes","doi":"10.1177/08830738251360177","DOIUrl":"https://doi.org/10.1177/08830738251360177","url":null,"abstract":"<p><p>BackgroundHemicrania continua and paroxysmal hemicrania are rare in the pediatric population. Recognizing these disorders characterized by unilateral headaches with autonomic features can reduce time to diagnosis, facilitate effective medical treatment, and reduce morbidity.ObjectiveTo review the diagnostic criteria and pathophysiology of hemicrania continua and paroxysmal hemicrania, analyze a retrospective cohort of adolescent patients with indomethacin-responsive headaches, and discuss the clinical features of these patients, both in how they follow the diagnostic criteria for these disorders and how they may deviate. We also examined time to diagnosis and prognosis for this cohort.MethodsA retrospective chart review was completed of patients 12-18 years old from 2014 to 2021 diagnosed with indomethacin-responsive headaches who presented to a tertiary pediatric headache clinic. Clinical headache characteristics, demographic features, medical diagnoses, and diagnostic testing were reviewed and collated.ResultsEight patients (7 female, 1 male) had indomethacin-responsive headaches. Six patients were diagnosed with hemicrania continua and 2 were diagnosed with paroxysmal hemicrania. The most common autonomic symptoms were unilateral nasal congestion and conjunctival injection/lacrimation. The median time to diagnosis was 15 months, and the median treatment length was 7 months.ConclusionPatients can have multiple headache phenotypes. Clinicians should ask headache patients of all ages about autonomic symptoms and unilateral headaches, specifically in fixed unilateral headaches. These headaches should be evaluated with imaging to rule out secondary intracranial causes. In those cases, with these features, an indomethacin trial is part of the diagnosis and should be considered early in the course.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251360177"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731178","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}

{"title":"Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study.","authors":"Christian Rummey, Susan Perlman, S H Subramony, Manuela Corti, Jennifer Farmer, David R Lynch","doi":"10.1177/08830738251353475","DOIUrl":"https://doi.org/10.1177/08830738251353475","url":null,"abstract":"<p><p>BackgroundFriedreich ataxia is a rare genetic disorder caused by mutations in the <i>FXN</i> gene, typically presenting with balance and coordination difficulties between ages 7 and 15 years. Neurologic symptoms are progressive and lead to loss of ambulation and especially in children other symptoms such as cardiomyopathy, scoliosis, and fatigue are common. The FACHILD natural history study aimed to expand knowledge about the disease course and evaluate clinical outcome assessments in children. We report on functional performance testing, clinical rating scales, and patient-reported outcomes as clinical outcome assessments for Friedreich ataxia. Over a 3-year period, all tests and assessments were conducted to evaluate their sensitivity to progression and correlate with established measures such as neurologic rating scales.MethodsIndividuals with genetically confirmed Friedreich ataxia, aged 7-18 years, were enrolled from October 2017 to November 2022. This analysis focused on ambulatory individuals, including timed walks (25-foot, 1 minute, and 6 minutes), the timed up and go, and the 9-hole pegboard test. Additionally, the Berg Balance Scale and FA-Activities of Daily Living were assessed. Progression data were analyzed using mixed models for repeated measures, with detailed analyses of intermittent missing data. Data from the Friedreich Ataxia Clinical Outcome Measures Study was used to augment analyses when available.Findings and InterpretationFunctional performance outcome measures are sensitive and clinically relevant tools for assessing disease progression in children with Friedreich ataxia. In early to moderately affected populations, the 1-Minute Walk demonstrated promising properties, showing comparable sensitivity to the modified Friedreich Ataxia Rating Scale and the Upright Stability Score.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251353475"},"PeriodicalIF":2.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707551","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}

{"title":"Sensory Dysregulation Is Associated With Worse Symptom Severities in Youth With Tic Disorder.","authors":"Erin Hendry, Nicole Walsh, Yelizaveta Sapozhnikov, Jonathan W Mink, Erika C Esposito, Leona Oakes, Heather R Adams, Andy Ross, Jennifer Vermilion","doi":"10.1177/08830738251351806","DOIUrl":"https://doi.org/10.1177/08830738251351806","url":null,"abstract":"<p><p>BackgroundMany individuals with chronic tic disorders endorse sensory dysregulation. Whether sensory dysregulation is linked with co-occurring conditions or associated with greater tic severity, urge severity, or severity of co-occurring conditions in this population is unknown. Characterizing sensory dysregulation in chronic tic disorders may help illustrate the mechanisms underlying development of chronic tic disorders.MethodsWe enrolled 40 subjects ages 6 to 17 with chronic tic disorders. Sensory profiles were determined by the parent-proxy reported Short Sensory Profile 2 or the self-reported Adolescent/Adult Sensory Profile. Symptom severities for anxiety, tics, obsessive-compulsive disorder, attention-deficit hyperactivity disorder (ADHD), and premonitory urge were assessed. Anxiety disorder diagnoses were determined using the Anxiety and Related Disorders-IV Child and Parent Interview. Obsessive-compulsive disorder and ADHD diagnoses were determined by clinician interview. Relationships between abnormal sensory profiles and co-occurring conditions were assessed with the Fisher exact test. Relationships between sensory profiles and continuous variables were assessed using Student 2-sided <i>t</i> test and linear regression.ResultsGreater total sensory profile scores in youth with chronic tic disorders were associated with worse tic (<i>P</i> = .001) and premonitory urge severities (<i>P</i> = .002). Participants with abnormal sensory avoidance and sensitivity had greater obsessive-compulsive disorder (avoidance: <i>P</i> < .001; sensitivity: <i>P</i> = .002), ADHD (avoidance: <i>P</i> = .01; sensitivity: <i>P</i> < .001), and anxiety (Screen for Child Anxiety-Related Emotional Disorders [SCARED]-Parent avoidance: <i>P</i> = .009; SCARED-Parent sensitivity: <i>P</i> = .01; SCARED-Child avoidance: <i>P</i> = .004; SCARED-Child sensitivity: <i>P</i> < .001) symptom severity compared with participants with normal sensory avoidance and sensitivity.ConclusionSensory dysregulation, specifically abnormal sensory avoidance and sensory sensitivity, is common in youth with chronic tic disorders and associated with increased severity of chronic tic disorders-related symptoms and co-occurring conditions.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251351806"},"PeriodicalIF":2.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707552","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}

{"title":"Characterization of Motor Function and Quality of Life, in Patients With Spinal Muscular Atrophy Treated With Disease-Modifying Therapies.","authors":"Alexia Nadine Puel, Aline Mauricio Klock, Cristina Maria Santos, Gabriella Lavarda do Nascimento, Priscilla Moretto, Antonio Almir Junior Lima, Anelise Sonza","doi":"10.1177/08830738251350603","DOIUrl":"https://doi.org/10.1177/08830738251350603","url":null,"abstract":"<p><p>Motor function, quality of life, and multidisciplinary treatment of patients with spinal muscular atrophy using disease-modifying therapies were evaluated. Assessments were performed according to the patient's functional capacity. Twenty patients were included in the study: 6 nonsitters and 14 sitters. Quality of life was assessed using the Pediatric Quality of Life Inventory 4.0 (PedsQL)-Neuromuscular Module. Low motor function performance and adequate quality of life were identified. Low motor function performance may be related to delayed onset of disease-modifying therapy; however, quality of life is good for a population receiving adequate treatment. Therefore, we conclude that the age at which drug treatment begins influences motor function scores and that adequate drug and multidisciplinary treatment improves the perception of quality of life.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251350603"},"PeriodicalIF":2.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698678","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}

{"title":"Abnormal Arm Movements as the Presenting Sign of a Childhood Spinal Cord Tumor.","authors":"Camiel A Wijngaarde, Elisabeth A Cats, A Fleur van Raamt, Eelco W Hoving, Kim Boshuisen","doi":"10.1177/08830738251353463","DOIUrl":"https://doi.org/10.1177/08830738251353463","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251353463"},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690456","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}

{"title":"Absence-Atonic Seizures: A Rare Generalized Seizure Type.","authors":"Margil Ranpariya, Jonathan Hanson, Natasha Qutab, Osman Farooq","doi":"10.1177/08830738251359388","DOIUrl":"https://doi.org/10.1177/08830738251359388","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251359388"},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690457","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}

{"title":"Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.","authors":"Melissa A Wright, Courtney Demmitt-Rice, Keith P Van Haren, Troy C Lund, Florian Eichler, Joshua L Bonkowsky","doi":"10.1177/08830738251353034","DOIUrl":"https://doi.org/10.1177/08830738251353034","url":null,"abstract":"<p><p>ObjectivesMore than half of males with X-linked adrenoleukodystrophy (ALD) develop progressive, inflammatory cerebral demyelination (cerebral adrenoleukodystrophy). Treatment for cerebral adrenoleukodystrophy is limited with no standard therapies for advanced cerebral adrenoleukodystrophy. We reviewed cerebral adrenoleukodystrophy literature and expert opinion, compiling immunopathology, biomarkers, and therapies tested.MethodsWe reviewed published literature from January 1, 1970, through November 1, 2024, and surveyed expert clinicians worldwide caring for cerebral adrenoleukodystrophy patients for unpublished agent use.ResultsWe identified 20 publications with primary data on human cerebral adrenoleukodystrophy immunopathology. Seventeen publications reported cerebral adrenoleukodystrophy biomarkers. We identified 14 publications reporting use of 7 different agents; unpublished clinician reports identified use of 9 different agents.ConclusionsCerebral adrenoleukodystrophy immunopathology represents complex dysregulation of cytokines, macrophages, T cells, astrocytes, oligodendrocytes, and microglia. Partial responses to cerebral adrenoleukodystrophy were noted with intravenous immunoglobulin, sirolimus, leriglitazone, and mycophenolate. Our findings suggest consideration for a randomized platform trial of immunomodulatory agents for advanced cerebral adrenoleukodystrophy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251353034"},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690458","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}