Journal of Child Neurology最新文献

{"title":"Evaluation of Neighborhood Resources and Pediatric Status Epilepticus Outcomes in the Intensive Care Unit Across the United States.","authors":"Kara H Garrett, Jonathan M Gabbay, Michael D Fishman, Benjamin V M Bajaj, Robert J Graham, Jennifer M Perez","doi":"10.1177/08830738251330407","DOIUrl":"10.1177/08830738251330407","url":null,"abstract":"<p><p>This study aimed to investigate outcomes for children with underlying epilepsy admitted to an intensive care unit for status epilepticus in relation to Child Opportunity Index. Data were obtained from the Pediatric Health Information System for patients aged 1 month to 21 years admitted to the intensive care unit for a primary diagnosis of epilepsy with status epilepticus. Mixed effects regression models were used to estimate the association between Child Opportunity Index and our outcomes: invasive mechanical ventilation, vasoactive medication administration, and in-hospital mortality. Encounters with very low, low, and moderate Child Opportunity Index levels were more likely to receive invasive mechanical ventilation compared to very high Child Opportunity Index level, though there were no differences for vasoactive medication administration or in-hospital mortality. This demonstration of neighborhood disparities specifically for children with epilepsy presenting in status epilepticus to an intensive care unit should inform future interventions aimed at improving neighborhood resources.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"744-749"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987028","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":"Special Edition. \"Letter from the Guest Editor: Bringing Diversity to the Forefront of Child Neurology\".","authors":"Maya Christina Ayoub","doi":"10.1177/08830738251361240","DOIUrl":"10.1177/08830738251361240","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"733-735"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775467","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":"Analyzing the Impact of Racial and Ethnic Background on Timeline of Receiving a Confirmatory Genetic Test in Children With Epilepsy: An Investigation Using Survival Analysis.","authors":"Rachit Patil, Kunal Bonde, Joshua Tanzer, Lauren Massingham","doi":"10.1177/08830738251334937","DOIUrl":"10.1177/08830738251334937","url":null,"abstract":"<p><p>BackgroundEpilepsy is a common childhood disorder and significant advances in its management have emerged in the past decade with the integration of genetic evaluation and testing. However, health care disparities can pose significant challenges, often leading to missed opportunities for effective management. Addressing these disparities is crucial for improving outcomes and ensuring better care for all patients.ObjectiveThis study aims to determine the rate at which individuals diagnosed with epilepsy receive a genetic diagnosis. In addition, we aim to examine the ethnic distribution of individuals diagnosed with epilepsy who undergo genetic testing and compare this to the ethnic composition of the general population of children in Rhode Island and to assess the time it takes for individuals from different ethnic backgrounds to complete genetic testing after being seen in a genetics clinic, regardless of potential extenuating circumstances.MethodsThis study is a retrospective analysis of 231 individuals diagnosed with epilepsy between 0 and 18 years of age who were evaluated by the genetics department at a tertiary care facility in Rhode Island between 2015 and 2020 to consider a genetic workup for seizures. Cohort clinical characteristics related to their diagnosis of seizures was collected, including genetic workup. Self-identified race, ethnicity, and ancestry was also collected. Interrogation of the differences in multiple factors were analyzed including diagnostic yield, comparison of breakdown self-identified race, ethnicity, and ancestry with the general population and generalized linear mixed effects modeling using 4 time periods (seizure onset, initial genetic evaluation, initial genetic test, and subsequent genetic test).ResultsDiagnostic yield overall for genetic diagnosis for those with seizures was 30%. Our cohort make-up of the race, ethnicity, and ancestry ancestral groups that were available (White, Black, and Latine) were comparable to US Census data for children living in Rhode Island. With the linear mixed effects modeling, those of Latine ancestry overall completed genetic workup in a shorter turnaround time than White and Black groups.ConclusionsOverall, our diagnostic yield is comparable to those cited in other studies. It is encouraging that the ratio of children evaluated in the tertiary care genetics clinic is similar to the general population breakdown of the state. The shorter turnaround trend for the Latine group and longer turnaround time with the Black group shows evidence that there are differences in management that need to be investigated further in order to provide equitable care and improve outcomes for all.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"736-743"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144284523","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":"Intersectionality in Caregiving for Autism: A Discourse Analysis of Lived Experiences from Academic Literature.","authors":"Nudurupati Venkata Tejo Prasanna, Monalisa Nayak","doi":"10.1177/08830738251334205","DOIUrl":"10.1177/08830738251334205","url":null,"abstract":"<p><p>Caregiving for individuals with autism spectrum disorder is a complex and deeply personal experience shaped by intersecting identities and diverse social realities. This study explores the unique narratives of caregivers of autism spectrum disorder through a discourse analysis of academic literature. Using keyword search and purposive sampling, 11 articles are chosen for analysis. The results highlight the need to recognize caregiving for autism spectrum disorder as a distinct and valuable act rather than a secondary or assumed responsibility. Findings reveal that cultural norms, socioeconomic conditions, and systemic inequities significantly influence caregivers' experiences. This study underscores the need for a more inclusive and equitable framework that acknowledges the unique challenges faced by autism spectrum disorder families, ultimately fostering a comprehensive and culturally sensitive support system.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"774-783"},"PeriodicalIF":1.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016415","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":"Dural Sinus Malformation Involving a Persistent Transtentorial Sinus: A Rare Variant.","authors":"Rebeca Santos, Sarah Wing, Mesha Martinez","doi":"10.1177/08830738251376737","DOIUrl":"https://doi.org/10.1177/08830738251376737","url":null,"abstract":"<p><p>This case report details a patient born with dural sinus malformation of the transtentorial sinus complicated by thrombosis, which caused compression of the fourth ventricle, venous infarction of the adjacent cerebellum, and disseminated intravascular coagulation. The enlarged, malformed pouch involved a transtentorial venous sinus, a sinus located in the tentorium cerebelli along the inner surface of the occipital bone that usually regresses before birth. The diagnosis was missed because of the rare presentation of a rare disease. In this case review, a multidisciplinary approach resulted in life-altering outcomes, with the patient meeting developmental milestones and exceeding expectations.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251376737"},"PeriodicalIF":1.6,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191601","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":"Early Electroencephalogram to Predict Severity of Injury in Infants With Abusive Traumatic Brain Injury.","authors":"Natasha A Varughese, Ali Hasan, Naomi Cohen, Deja Smith, Rebekah L Clarke, Jillian Grapsy, Rana Said, Darryl Miles, Lakshmi Raman, Deepa Sirsi","doi":"10.1177/08830738251377152","DOIUrl":"https://doi.org/10.1177/08830738251377152","url":null,"abstract":"<p><p>This study explored the hypothesis that specific electroencephalographic (EEG) findings may correlate with outcomes in children with abusive head trauma. A retrospective chart review was conducted on children <2 years of age who were hospitalized after suspected abusive head trauma between 2015 and 2021. Based on validated scoring systems, a primary analysis was performed to correlate background EEG scores against magnetic resonance imaging (MRI) scores and neurofunctional outcomes. A secondary analysis was performed to correlate seizure burden against MRI and neurofunctional outcomes. Significant positive correlations (Spearman rank) were discovered between background EEG scores and MRI scores (0.338, <i>P</i> = .011) as well as between background EEG scores and motor functional scores at 1-6 months (0.332, <i>P</i> = .017) and 7-12 months (0.386, <i>P</i> = .08). Seizure burden and sensory functional scores showed positive but statistically insignificant correlations. In conclusion, for children with abusive head trauma, background EEG is an early marker of prognosis whereas seizure burden requires additional study.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251377152"},"PeriodicalIF":1.6,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145175638","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":"Castleman Disease Variant POEMS Syndrome Presenting as Polyradiculoneuropathy in a Child: A Case Report.","authors":"Magda Delgado-Landa, Selma Scheffler-Mendoza, Eduardo López-Corella, Ana Luisa Rodríguez-Lozano, Francisco Rivas-Larrauri, Melissa Espinosa-Navarro, Hiromi Onuma-Zamayoa, Marco Antonio Yamazaki-Nakashimada","doi":"10.1177/08830738251369737","DOIUrl":"https://doi.org/10.1177/08830738251369737","url":null,"abstract":"<p><p>POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) is a rare multisystemic disorder linked to plasma cell abnormalities, typically affecting adults. Pediatric cases are extraordinarily rare, with the youngest previously reported patient being 10 years old. We present the case of a 6-year-old boy whose symptoms included progressive lower limb weakness, lymphadenopathy, and thrombocytosis. Initially misdiagnosed as Guillain-Barré syndrome, the finding of lymphadenopathy revealing Castleman disease along with hyperpigmentation, hypertrichosis, papilledema, and hepatomegaly confirmed the diagnosis. Despite the absence of monoclonal protein and sclerotic bone lesions, the multidisciplinary approach led to successful treatment with corticosteroids, thalidomide, and cyclophosphamide, resulting in full remission. This case highlights the diagnostic challenges of POEMS syndrome in children, given its heterogeneity and overlap with other conditions. Early recognition is crucial, as pediatric patients show favorable prognosis with prompt and appropriate treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251369737"},"PeriodicalIF":1.6,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145175652","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":"Epilepsy due to a <i>MED25</i> Homozygous Pathogenic Founder Variant.","authors":"Andy Cheuk-Him Ng, Sabrina D'Alfonso, A Micheil Innes, Morris H Scantlebury","doi":"10.1177/08830738251377579","DOIUrl":"https://doi.org/10.1177/08830738251377579","url":null,"abstract":"<p><p>Previous reports have described a spectrum of clinical phenotypes in patients with <i>MED25</i> pathogenic variants. One specific phenotype is the Basel-Vanagaite-Smirin-Yosef syndrome, which is a rare, autosomal recessive disorder characterized by a wide range of symptoms including eye abnormalities, cardiac abnormalities, palatal abnormalities, intellectual disability, and epilepsy. Although epilepsy appears to be common, the electroclinical phenotypes of patients with Basel-Vanagaite-Smirin-Yosef syndrome have not been well described. Here, we report 3 Basel-Vanagaite-Smirin-Yosef syndrome patients from 2 families of Lebanese descent with a homozygous <i>MED25</i> founder variant from Alberta Children's Hospital, Calgary, Alberta. We describe in detail electroclinical phenotypes in each of these 3 patients. These patients developed seizures with onset between 2 and 3 years of age, multifocal and generalized discharges, as well as photoparoxysmal responses on electroencephalogram. We review the relevance of these epilepsy findings in the context of other published reports of Basel-Vanagaite-Smirin-Yosef syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251377579"},"PeriodicalIF":1.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130796","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":"Ask-Me-3 & Going-Home-3 Education Program: Improving Communication Between Patients and Doctors in Child Neurology.","authors":"Sharoon Qaiser, Kimberly S Jones, Anna Thamann, Matthew Stowe","doi":"10.1177/08830738251369136","DOIUrl":"https://doi.org/10.1177/08830738251369136","url":null,"abstract":"<p><p>BackgroundEffective communication between physicians and caregivers is essential to high-quality pediatric care. Communication failures contribute to suboptimal outcomes, caregiver dissatisfaction, and increased health care use. Children with neurologic conditions often require complex and prolonged hospitalizations, increasing the risk of communication breakdowns.ObjectiveTo improve communication during hospitalization and at discharge, we developed and implemented a 2-part bedside communication tool-Ask-Me-3 & Going-Home-3-and evaluated its association with Press Ganey patient satisfaction scores.MethodsThis 6-month quality improvement (QI) initiative took place in a tertiary children's hospital where child neurology served as the primary admitting service. Physicians were trained to use a laminated, dual-phase communication tool during rounds and at discharge. Caregivers used this reference to track understanding. Monthly Press Ganey communication scores were tracked pre- and post-implementation and visualized using a run chart to assess trends. No formal statistical testing was performed, consistent with QI methodology.ResultsFrom March to August 2023, baseline communication scores averaged 82.0% to 83.5%, below the institutional benchmark of 83.9%. Following implementation (September 2023-March 2024), scores improved to 84.5% to 85.2%, exceeding both institutional and departmental goals. A run chart indicated a sustained upward trend. The internal caregiver survey (n = 98) demonstrated >95% satisfaction with communication during the initial implementation month.ConclusionAsk-Me-3 & Going-Home-3 is a feasible and low-cost tool associated with improved caregiver-reported satisfaction. It enhances communication at both admission and discharge in hospitalized child neurology patients. Further multicenter studies are needed to evaluate generalizability and long-term impact.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251369136"},"PeriodicalIF":1.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130765","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":"Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.","authors":"Anirban Basu, Renu Suthar, Abhishek Pandey, Prateek Bhatia, Inusha Panigrahi, Sameer Vyas, Arushi G Saini, Jitendra K Sahu, Naveen Sankhyan","doi":"10.1177/08830738251374530","DOIUrl":"https://doi.org/10.1177/08830738251374530","url":null,"abstract":"<p><p>Congenital muscular dystrophies are inherited disorders defined by early-onset muscle weakness, motor delay, and dystrophic muscle pathology. This study aimed to report the clinical and genetic landscape of children with congenital muscular dystrophies from North India. Cognitive and motor outcomes and quality of life were evaluated during follow-up. In a cross-sectional study, 42 children aged <18 years with clinical and genetic diagnosis of congenital muscular dystrophy were enrolled. The most common congenital muscular dystrophy subtype was <i>COL6</i>-related dystrophy (RD) (32%), followed by <i>LAMA2</i>-RD (26%), <i>LMNA</i>-RD (19%), α-dystroglycanopathy (α-DG; 9%), and <i>CHKB</i>-RD (5%). Motor and cognitive outcomes were was assessed in 33 (78%) children during follow-up, 45% (n = 19) were able to ambulate independently. Median value of the Motor Function Measure (MFM) score was 60 (interquartile range [IQR] 33-74), Brooke was 2 (IQR 1-4), and Vigno score was 6 (IQR 3-9). The median Medical Research Council sum score was 40 (IQR 29-47) and Vineland Social Maturity Scale (VSMS) score was 83.5 (IQR 64-86). The motor outcome and quality of life were worst affected in children with α-DG and <i>LAMA2-RD</i>. Hence, in a cohort of children with congenital muscular dystrophy from North India, <i>COL6</i>-RD and <i>LAMA2</i>-RD were the most common congenital muscular dystrophy subtypes. Motor impairment in children with congenital muscular dystrophy is profound, the majority being nonambulant and the children with α-DG most severely affected.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251374530"},"PeriodicalIF":1.6,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113275","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}