Journal of Child Neurology最新文献

{"title":"Assessment of Micronutrient Levels in Pediatric Migraine Patients.","authors":"Fatih Mehmet Akif Özdemir, Halil Çelik","doi":"10.1177/08830738241304868","DOIUrl":"https://doi.org/10.1177/08830738241304868","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to evaluate the relationship between attack frequency and severity and serum levels of micronutrient in pediatric migraine patients.</p><p><strong>Methods: </strong>Children at 2 hospitals from February to December 2022 diagnosed with migraine were reviewed.</p><p><strong>Results: </strong>A total of 171 patients with a mean age of 14.3 ± 2.9 years were included in the study. The median 25(OH) vitamin D level was 15.6 μg/L in patients with an attack frequency of 1-3 per month versus 11.9 μg/L in those with more than 3 attacks per month (<i>P</i> = .005). The median vitamin B₁₂ level was 386 ng/L in patients with attack duration of 2-6 hours versus 343.5 ng/L in those with an attack duration of 12-24 hours (<i>P</i> = .048). The median ferritin level was 34 μg/L among patients not receiving prophylactic treatment and 24 μg/L among those receiving prophylactic treatment (<i>P</i> = .019).</p><p><strong>Conclusions: </strong>This study suggests that assessing micronutrient levels may be beneficial in children with migraine.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241304868"},"PeriodicalIF":2.0,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971031","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":"Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder.","authors":"Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman","doi":"10.1177/08830738241302252","DOIUrl":"https://doi.org/10.1177/08830738241302252","url":null,"abstract":"<p><p>Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241302252"},"PeriodicalIF":2.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949609","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":"Cytokine Profiles Associated With Clinical Outcomes in Pediatric Patients With Meningitis: A Systematic Review and Meta-Analysis.","authors":"Daniela Caldas Teixeira, Ana Luisa Lodi Jimenez, Tales Godinho França, Kelvin Oliveira Rocha, Aline Almeida Bentes, Ana Cristina Simões E Silva, Lilian Martins Oliveira Diniz, Roberta Maia de Castro Romanelli","doi":"10.1177/08830738241304862","DOIUrl":"https://doi.org/10.1177/08830738241304862","url":null,"abstract":"<p><p>This review evaluated the correlation between inflammatory response and clinical outcomes in pediatric patients with meningitis. PubMed, Scopus, and Web of Science were searched for relevant studies published until March 2024. A total of 139 articles were identified; 7 studies were eligible, and 3 provided data for the meta-analysis. All included articles comprised one of the following cohorts: children with bacterial meningitis, those with aseptic meningitis, or febrile children without evidence of central nervous system infection. The following cytokines and chemocytokines were assessed: interleukin IL-1β, IL-6, IL-17, tumor necrosis factor-alpha, and transforming growth factor-beta 1. Studies on children with bacterial meningitis confirmed by culture found that acute complications and neurologic sequelae were associated with higher concentrations of IL-1β, IL-6, and IL-17. Although this review could not definitively correlate individual inflammatory responses with the prognosis of children with central nervous system infections, IL-6 from cerebrospinal fluid may potentially predict the prognosis of children with bacterial meningitis.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241304862"},"PeriodicalIF":2.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949577","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":"Introducing the New Editor-in-Chief of the <i>Journal of Child Neurology</i>.","authors":"Alison Christy","doi":"10.1177/08830738241309710","DOIUrl":"https://doi.org/10.1177/08830738241309710","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241309710"},"PeriodicalIF":2.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949610","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":"Cortical Deafness in Children: Scoping Review and Case Report of a Bilateral Perinatal Stroke.","authors":"Francy Cruz-Sanabria, Carolina Ragoni, Renata Salvadorini, Rosa Pasquariello, Emanuele Bartolini, Silvia Paese, Deianira Rinaldi, Francesca Forli, Andrea Guzzetta, Simona Fiori","doi":"10.1177/08830738241308611","DOIUrl":"https://doi.org/10.1177/08830738241308611","url":null,"abstract":"<p><strong>Background: </strong>Persistent cortical deafness in the pediatric population is rarely reported, and there is limited information on its implications for early intervention.</p><p><strong>Objectives: </strong>This study aims to (1) conduct a scoping review on pediatric cortical deafness and (2) present a case report of a 7-year-old girl with left unilateral spastic cerebral palsy and cortical deafness resulting from presumed perinatal bilateral stroke.</p><p><strong>Methods: </strong>A search of PubMed, Scopus, and Web of Science identified 407 manuscripts. After the screening, 5 studies met the inclusion criteria for analysis. The case report details clinical characteristics, diagnostic challenges, and intervention strategies for pediatric cortical deafness.</p><p><strong>Results: </strong>The scoping review highlighted the limited literature on pediatric cortical deafness, emphasizing its association with extensive bilateral lesions and heterogeneous etiology. The case report underscored the need for comprehensive auditory function measurements, early diagnosis, and tailored interventions.</p><p><strong>Conclusions: </strong>Early and tailored interventions are crucial for improving prognosis in pediatric cortical deafness, particularly in cases associated with bilateral perinatal stroke.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241308611"},"PeriodicalIF":2.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949576","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":"Hammersmith Neonatal and Infant Neurological Examinations Scores in Typically Developing Infants Aged 1-6 Months.","authors":"Julie C Skorup, Samuel R Pierce, Noor Ruwaih, Sara B DeMauro, Michelle J Johnson, Laura A Prosser","doi":"10.1177/08830738241282722","DOIUrl":"10.1177/08830738241282722","url":null,"abstract":"<p><p>The Hammersmith Neonatal (HNNE) and Infant (HINE) Neurological Examinations are increasingly used to evaluate developing neuromotor control in infants at risk for physical disability, but there is no global consensus on score interpretation across the first 6 months after birth. We report scores for typically developing, full-term infants aged 1 month for the HNNE and aged 2-6 months for the HINE. The median HNNE and HINE scores are consistent with previously published data. These normative data can be used to aid in the interpretation of HNNE and HINE scores from infants at risk for neuromotor impairment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"10-14"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11787824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347555","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}

{"title":"Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series.","authors":"Paolo Currao, Marta Balzarini, Dario Pruna, Monica Marica, Consolata Soddu, Mariangela Marras, Marco Pavanello, Stefania Satta, Salvatore Savasta","doi":"10.1177/08830738241284081","DOIUrl":"10.1177/08830738241284081","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is a multisystemic neurocutaneous disease caused by a heterozygous mutation of the <i>NF1</i> gene that encodes neurofibromin. Complications include vascular and neurologic abnormalities such as moyamoya syndrome, a cerebrovascular disorder with progressive occlusion of the large intracranial arteries, leading to ischemic events and the formation of abnormal vascular networks. Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"49-60"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390874","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":"Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.","authors":"Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang, Vanessa Smith, Holly Dubbs, Samuel R Pierce, Kristy Pucci, Joseph Vithayathil, Nivedita Thakur, Laura A Adang","doi":"10.1177/08830738241283932","DOIUrl":"10.1177/08830738241283932","url":null,"abstract":"<p><p>β-Propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked condition caused by pathogenic variants in the <i>WDR45</i> gene that result in a defect of autophagy. Classified as a disorder of neurodegeneration with brain iron accumulation, β-propeller protein-associated neurodegeneration is associated with severe neurologic impairments. With the anticipation of future therapeutic trials, this project characterizes the family's perspective of the impact of disease and defines Health Concepts (HC).Children with a molecularly confirmed diagnosis of β-propeller protein-associated neurodegeneration were enrolled in a prospective natural history study. We administered the Vineland Adaptive Behavior Scales-Third Edition and provided health-related quality of life questionnaires to 42 caregivers. Questionnaires included Pediatric Quality of Life Inventory-Generic Core and Pediatric Quality of Life Inventory-Family Impact modules, Caregiver Priorities and Child Health Index of Life with Disabilities, and Caregiver TBI-CareQoL.The Vineland Adaptive Behavior Scales-Third Edition (n = 42) captured the family's perspective that communication was more affected compared with socialization, activities of daily living (ADL), and motor skills (<i>P</i> < .0001, <i>P</i> < .0001, <i>P</i> = .0053, respectively). Similarly, on the Caregiver Priorities and Child Health Index of Life with Disabilities (n = 26), Pediatric Quality of Life Inventory-Generic Core (n = 27), CareQol (n = 26), and Pediatric Quality of Life Inventory-Family Impact (n = 27), communication abilities, as well as social functioning and activities of daily living, were noted to be most impacted.Through the use of standardized surveys and outcome assessments, we establish the effects of β-propeller protein-associated neurodegeneration on caregiver quality of life. Key health concepts identified by families included overall health, comfort, and communication. The identified HC will inform the future identification of concept of interest and selection of appropriate clinical outcome assessments through the administration of patient-reported outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"15-25"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11598671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390870","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}

{"title":"First-Drug Efficacy and Drug-Resistant Epilepsy Rates in Children With New-Onset Epilepsies: A Multicenter Large Cohort Study.","authors":"Pinar Gencpinar, Pinar Arican, Nihal Olgac Dündar, Betül Kilic, Esra Sarigecili, Cetin Okuyaz, Kursad Aydin, Hasan Tekgul","doi":"10.1177/08830738241283711","DOIUrl":"10.1177/08830738241283711","url":null,"abstract":"<p><p><b>Objective:</b> This study aimed to assess the first-drug efficacy rate in newly diagnosed children with epilepsies treated with antiseizure medications. <b>Methods:</b> This retrospective study was conducted on 1003 children (age range: 3-10 years, and the mean duration of follow-up: 22 ± 13 months) with newly diagnosed epilepsy. The following parameters were evaluated: first-drug efficacy rate, first-drug-failure rate, and drug resistance rate in the cohort. <b>Results:</b> The first-drug-failure rate was defined in 335/1003 (33%) of the patients, no seizure control in 315 (31%), and drug withdrawal in 20 (2%). There was no significant difference between the group with focal-onset seizures and the group with generalized onset seizures. The first-drug efficacy rate was 67% in children with focal-onset seizures and 66% in children with generalized-onset seizures. Adjunctive antiseizure medication therapy was initiated in 335 patients-dual therapy with 180 patients (18%) and polytherapy with 155 (15%). Drug-resistant epilepsy was defined as 15% in the follow-up period. Etiology-specific diagnoses of the cohort were structural (n = 165, 17%), genetic (n = 25, 3%), metabolic (n = 15%), immune-infectious (n = 17 (2%), and unknown (n = 781, 77%). With a comparison of the 2 most common etiology subgroups (structural versus unknown), a first-drug efficacy rate of 53% and a higher prevalence of drug-resistant epilepsy at 30% were observed in children with structural etiology. First-drug efficacy was statistically lower in children without well-defined epilepsy syndromes (65%) compared with the rate of those with well-defined epilepsy syndrome (79%). <b>Conclusion:</b> This study revealed a first-drug failure rate (33%) in the presented cohort with a drug-resistance epilepsy rate (15%).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"5-9"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347554","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":"The Initial Experience of Eslicarbazepine in Children at Three Canadian Tertiary Pediatric Care Centers.","authors":"Yvonne Nyakeri, Qi Xu, Maryam Nouri, Denait Haile, Anita N Datta","doi":"10.1177/08830738241282903","DOIUrl":"10.1177/08830738241282903","url":null,"abstract":"<p><strong>Introduction: </strong>Eslicarbazepine (ESL) is a once-daily, third-generation antiseizure medication for focal-onset seizures. The primary mechanism of action is enhancing the slow inactivation of voltage-gated sodium channels. The study objective was to review real-world experience regarding retention rate, efficacy, and tolerability of eslicarbazepine, soon after it became available for children in Canada.</p><p><strong>Methods: </strong>A retrospective review was performed on all patients prescribed eslicarbazepine from September 2017 to June 2020, with at least 3 years of follow-up data, at 3 Canadian tertiary care pediatric centers.</p><p><strong>Results: </strong>Fifty patients were identified, and the mean age of eslicarbazepine initiation was 12.4 years (range 3-19 years). Most patients had drug-resistant epilepsy, trying a mean of 5.04 (range 0-14) antiseizure medications before the initiation of eslicarbazepine. Twenty-four patients (48.0%) experienced adverse effects, including dizziness (n = 10), drowsiness (n = 6), dizziness and drowsiness (n = 1), nausea and abdominal pain (n = 4), transient unsteadiness and diplopia (n = 1), and negative mood changes (n = 2). None had serious adverse effects, including rash. The retention rate of eslicarbazepine at last follow-up was 70%. Fifteen (30%) had ≥50% seizure reduction, with 2 of these patients becoming seizure free. Ten (20%) had 25% to 50% reduction, 2 (4%) had worsening of seizures, and 17 (34%) had no change in seizure frequency.</p><p><strong>Conclusion: </strong>The study results support the long-term effectiveness and tolerability of eslicarbazepine in a cohort of children with predominantly drug-resistant epilepsy in a real-life setting from 3 Canadian centers with initial use after approval. Adverse effects were nonserious, infrequently leading to eslicarbazepine discontinuation.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"39-48"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390873","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}