Journal of Child Neurology最新文献

{"title":"Pediatric Traumatic Brain Injuries in Natural Disasters, a Call for Better Preparedness: A Systematic Literature Review.","authors":"Alex S Aguirre, Kenny Rojas, Alcy R Torres","doi":"10.1177/08830738251323430","DOIUrl":"https://doi.org/10.1177/08830738251323430","url":null,"abstract":"<p><p>IntroductionPediatric traumatic brain injuries arising from natural disasters pose a significant long-term risk, particularly in the vulnerable population of children in high-stress situations. We aimed to gain insights into this matter to increase its understanding and potentially address health disparities with evidence.MethodsWe searched the 5 databases following Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to identify publications discussing traumatic brain injuries in children in the context of natural disasters. Of 32,785 records, only 9 met criteria for inclusion. We extracted and analyzed clinical data relevant to our topic.ResultsTraumatic brain injuries are one of the most prevalent injuries found in this pediatric population accountable for the major risk factor for morbidity and fatalities, followed by orthopedic injuries and infected wounds. Males and females were affected equally, with a mean age around 9.8 years. Mortality rates varied but were lower than 16%, contingent on the severity of the disaster and the level of preparedness of the affected area.ConclusionsHead injuries are one of the most prevalent pediatric injuries in disasters. However, there is limited evidence-based information regarding best strategies and care for children experiencing traumatic brain injuries in this context. This study suggests the need of a concerted effort to strengthen preparedness for natural disasters to ultimately foster a safer world for the children.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251323430"},"PeriodicalIF":2.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700502","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":"Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.","authors":"Jihye You, Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Mi-Sun Yum, Beom Hee Lee, Jeong Jin Yu","doi":"10.1177/08830738251327248","DOIUrl":"https://doi.org/10.1177/08830738251327248","url":null,"abstract":"<p><p>Becker muscular dystrophy is an infrequent genetic disorder that results from dystrophin gene mutations. Cardiac involvement is a primary manifestation. The time of onset of underlying cardiac functional abnormalities remains largely undefined. This study involved 17 pediatric patients with Becker muscular dystrophy who visited our hospital between January 1, 2002, and December 31, 2018, and underwent echocardiographic imaging analysis. Another set of 17 controls matched for age and sex to the patient cohort was chosen for comparison. Patients with Becker muscular dystrophy demonstrated a decline in echocardiographic measures, especially deformation parameters, compared with the control group. This alteration is influenced by age. Our findings suggest that early echocardiographic monitoring may help identify subclinical cardiac dysfunction, particularly in younger patients (<10 years of age).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327248"},"PeriodicalIF":2.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692309","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":"Cooking Up a Diagnosis: How the Starch-Iodine Test Adds Consistency in Localizing Horner Syndrome Lesions.","authors":"Daniela da Rocha Couto, Sara Carvalho, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa","doi":"10.1177/08830738251324229","DOIUrl":"https://doi.org/10.1177/08830738251324229","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251324229"},"PeriodicalIF":2.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673981","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":"Short-term EEG Outcomes in Children With Developmental and/or Epileptic Encephalopathy With Spike and Wave Activation in Sleep (DEE-SWAS) Treated With High-Dose Diazepam.","authors":"Sonali Singh, Ayako Ochi, Hiroshi Otsubo, Miguel Cortez, Vann Chau, Laura Wang, Rohit Sharma, Kaitlin Flynn, Elizabeth Donner, Puneet Jain","doi":"10.1177/08830738251322227","DOIUrl":"https://doi.org/10.1177/08830738251322227","url":null,"abstract":"<p><p><b>Objectives:</b> This retrospective study enrolled consecutive children aged 2-18 years with developmental and/or epileptic encephalopathy with continuous spike and wave during sleep (D)EE-SWAS who received oral high-dose diazepam therapy. Their clinical, electroencephalographic (EEG), and radiologic data were reviewed and summarized. <b>Results:</b> Thirty-five eligible patients were identified. The mean age at EEG diagnosis of (D)EE-SWAS was 6 years. Focal seizures (57.1%) were most commonly noted at the time of diagnosis. A definite language regression was reported in 10 patients (28.6%). The etiologies included structural (34.3%), genetic (22.9%), and unknown (42.9%). The mean spike-wave index at the time of high-dose diazepam initiation was 88.9% (standard deviation 11%). Sixteen patients (45.7%) showed ≥50% reduction in spike-wave index following the test doses of high-dose diazepam. Most patients tolerated the therapy well. Nonstructural etiology was associated with a good EEG response (β = 2.61, <i>P</i> = .008). The mean duration of follow-up after EEG diagnosis was 6.1 years. All patients were seizure free at last follow-up except one. Persisting SWAS (spike-wave index  > 50%) at last follow-up was noted in 12 patients (34.3%). <b>Conclusions:</b> This single-center small retrospective study showed that nearly half of the patients showed ≥50% reduction in spike-wave index following the test doses of high-dose diazepam in patients with (D)EE-SWAS.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251322227"},"PeriodicalIF":2.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648619","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":"Calcitonin Gene-Related Peptide Levels in Children and Adolescents With Primary Headache Disorder.","authors":"Mathilde Musoni Falsing, Amalie Akulenok Berring-Uldum, Astrid Førland-Schill, Niklas Rye Jørgensen, Nanette Marinette Monique Debes","doi":"10.1177/08830738251321276","DOIUrl":"https://doi.org/10.1177/08830738251321276","url":null,"abstract":"<p><p>ObjectiveThis study aimed to investigate calcitonin gene-related peptide (CGRP) levels in children and adolescents with primary headache.MethodsAll patients underwent blood sampling regardless of their headache state (ictal or interictal) on the day of examination. The patients were grouped based on their headache diagnosis (migraine, tension-type headache, or mixed).ResultsNinety-two patients aged 5-18 years were included (29 diagnosed with migraine and 31 with tension-type headache). In the comparisons between the patients with migraine and the patients with tension-type headache, interictal CGRP levels in blood from the cubital vein showed no significant difference. Ictal samples were collected in the tension-type headache group only, and no significant difference was observed between the ictal and interictal phases. Variables such as headache diagnosis, sex, age, family history with primary headache, headache frequency, time since last headache, medication usage, and body mass index did not significantly influence CGRP levels.ConclusionNo significant difference in interictal CGRP levels between patients with migraine and patients with tension-type headache were found. In patients with tension-type headache, there were no significant differences between CGRP levels in the ictal and interictal state. We were not able to draw conclusions about differences in ictal levels of CGRP in patients with migraine compared with patients with tension-type headache, or in differences between ictal and interictal levels in patients with migraine. Future studies should aim to replicate these results in a larger study cohort.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251321276"},"PeriodicalIF":2.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624812","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":"Neurologic Disease and Vitamin B₁₂ Levels in Children.","authors":"Betül Diler Durgut","doi":"10.1177/08830738251319056","DOIUrl":"https://doi.org/10.1177/08830738251319056","url":null,"abstract":"<p><p><b>Introduction:</b> Vitamin B₁₂ deficiency is a well-known cause of neurologic symptoms, prompting routine measurement in patients with neurologic conditions. However, elevated B₁₂ levels are also observed in some cases. Recent studies suggest a potential link between high B₁₂ levels and neurologic or neurodevelopmental disorders. This study aims to evaluate vitamin B₁₂ levels in children with neurologic disorders compared with those in general pediatric populations. <b>Materials and Methods:</b> This single-center retrospective study analyzed pediatric patients' vitamin B₁₂ levels between 2000 and 2023. Exclusion criteria included incomplete data and vitamin supplementation. Patients were grouped based on B₁₂ levels (<200 pg/mL, 201-660 pg/mL, 661-1000 pg/mL, > 1000 pg/mL). Age, gender, and diagnoses were assessed, focusing on patients with elevated B₁₂ levels (>660 pg/mL) in the neurology clinic. Vitamin B₁₂ levels were measured using Roche Cobas e 601 analyzers. <b>Results:</b> Over 3 years, 4142 pediatric clinic and 2638 pediatric neurology patients were reviewed. Elevated B₁₂ levels were more frequent in the neurology clinic. Patients with elevated B₁₂ levels (n = 338) had a mean age of 8.67 months and a mean B₁₂ level of 894.7 pg/mL. Of 137 patients with follow-up B₁₂ measurements, 40.1% normalized, while 17.5% remained > 1000 pg/mL. The most common diagnosis in patients with persistently high B₁₂ levels was epilepsy, followed by prematurity, cerebral palsy, autism, intellectual disability, and language delay. <b>Conclusions:</b> Elevated vitamin B₁₂ levels were associated with pediatric neurologic disorders, particularly epilepsy. Further research is needed to clarify the mechanisms and clinical implications of this finding.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251319056"},"PeriodicalIF":2.0,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537248","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":"Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.","authors":"Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano","doi":"10.1177/08830738241291622","DOIUrl":"10.1177/08830738241291622","url":null,"abstract":"<p><p>Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the <i>KMT2D</i> and <i>KDM6A</i> genes.The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the <i>KMT2D</i> and <i>KDM6A</i> genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"208-217"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142836666","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":"Electroencephalographic (EEG) Stages in Patients With Cerebral Edema Following Cardiac Arrest.","authors":"David E Horvat, Julia S Keenan, Caroline Conley, Katelyn Staso, Dana B Harrar, Arnold J Sansevere","doi":"10.1177/08830738241289161","DOIUrl":"10.1177/08830738241289161","url":null,"abstract":"<p><p>ObjectiveTo describe electroencephalographic (EEG) changes in pediatric patients with cerebral edema after cardiac arrest.MethodsA retrospective study of patients admitted to the pediatric intensive care unit from July 2021 to January 2023. We included patients with cardiac arrest and changes in EEG background with clinical changes and/or neuroimaging consistent with cerebral edema. We excluded patients with electrographic seizures. We applied American Clinical Neurophysiology Society standardized critical care EEG terminology to classify EEG background, noting timing of the change in background classification. Clinical variables included age, sex, and neuroimaging findings and were described with descriptive statistics.ResultsNine patients met inclusion criteria, with median age 24 months (interquartile range 21-49), and 89% were male. There were 5 common EEG stages: stage 1, burst suppression/burst attenuation; stage 2, continuous/discontinuous ± multifocal sporadic epileptiform discharges ± rhythmic or periodic patterns; stage 3, discontinuous/burst suppression/burst attenuation ± rhythmic or periodic patterns; stage 4, gradual voltage suppression; and stage 5, diffuse suppression. The ranges for each stage were as follows: stage 1, 2-10 hours; stage 2, 2.5-15.5 hours; stage 3, 0.5-6.24 hours; and stage 4, 0.5-11 hours. We could not calculate the duration of stage 5 given no uniform time to EEG discontinuation. One patient had a clinical change in stage 3. Remaining patients presented with fixed and dilated pupils with global anoxic injury.ConclusionsEEG stages of cerebral edema have not been described after pediatric cardiac arrest. These stages may be relevant to other patient populations. Early stages may be a therapeutic target for intracranial pressure-lowering medications and/or neuroprotective strategies to minimize sequalae of cerebral edema.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"180-185"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667658","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":"Low Lesion Clearance Rates in Neurocysticercosis: Is It Time to Review Guidelines?","authors":"Prabal Barman, Naveen Sankhyan, Renu Suthar, Sameer Vyas, Lokesh Saini, Arushi Saini, Jitendra K Sahu","doi":"10.1177/08830738241290550","DOIUrl":"10.1177/08830738241290550","url":null,"abstract":"<p><p>BackgroundThe standard treatment guidelines of neurocysticercosis have been described as per computed tomography (CT)-based studies. We aimed to prospectively study if posttreatment magnetic resonance imaging (MRI) clearance rates of neurocysticercosis were like those reported in literature using CT.MethodsA prospective observational study in newly diagnosed children with neurocysticercosis was undertaken. Children were treated with antihelminthics and steroids and followed up after 6 months. The primary objective was to study the proportion of children with single-lesion neurocysticercosis who were in radiologic resolution at 6 months and clinical remission (seizure-free for the preceding 3 months).ResultsEighty of 128 consecutive children screened were included (single lesion, 65; multiple lesions, 15). Seventy-two children were evaluated at 6 months. Seizure recurrence was seen in 5 (6.2%). Brain MRI showed an overall clearance of lesions in 10 (14%) children. In the children with single-lesion neurocysticercosis (65), 59 were followed up at 6 months, and lesions resolved in 9 (15.3%, 95% confidence interval of 6.1-24.4).ConclusionsIn children with single-lesion neurocysticercosis treated with antihelminthics and corticosteroids, the lesion resolution rate is only 15% at 6 months. Thus, there is a need to review old recommendations and use MRI as a standard outcome measure.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"186-190"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568787","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":"Development of a Nomogram and Risk Grouping System for Predicting 1-Year Overall Survival of Patients With Atypical Teratoid/Rhabdoid Tumors.","authors":"Xu Kang, Yabing Zhou, Fangjie Shen, Jiaqi Feng, Yunkun Wang, Jie Ma, Qiang Qiang, Xiaoqiang Wang","doi":"10.1177/08830738241281393","DOIUrl":"10.1177/08830738241281393","url":null,"abstract":"<p><p>PurposeAtypical teratoid/rhabdoid tumor (AT/RT) is a kind of central nervous system malignant tumor in children. In this study, we aimed to develop a practically clinical nomogram and risk grouping system to predict 1-year overall survival for patients with atypical teratoid/rhabdoid tumor.MethodsThe nomogram was constructed based on the pediatric tumor registry of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine. Fifty-four information-integrated patients with atypical teratoid/rhabdoid tumor were included from the database. Cox regression analyses were used to select independent prognostic factors. Based on the fitted multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. Moreover, the nomogram was validated by assessing its discrimination and calibration.ResultsIn these patients, age at diagnosis, the extent of tumor resection, radiotherapy, and chemotherapy were included in the multivariate Cox regression model. Based on this multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. The nomogram had good discrimination (the concordance index was 0.781) and calibration curves showed no deviation from reference lines. Decision curve analysis demonstrated this nomogram was useful for clinical practice. The risk grouping system was built based on nomogram-derived risk scores, which could classify patients into 3 risk groups. Compared with the low-risk group, the risk of 1-year death was significantly higher in the intermediate-risk group (hazard ratio = 1.42, 95%, confidence intervals = 0.49-4.11) and high-risk group (hazard ratio = 9.78, 95% confidence intervals = 3.53-27.1).ConclusionA nomogram and risk grouping system were built to predict for the 1-year overall survival of atypical teratoid/rhabdoid tumor patients. The nomogram could facilitate a personalized prognostic evaluation for atypical teratoid/rhabdoid tumor patients and help medical practitioners make better treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"153-161"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046324","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}