Journal of Child Neurology最新文献

{"title":"Christianson Syndrome Family Experiences: Results From Caregiver Interviews.","authors":"Danielle G St Pierre, Carrie R Best, Jennifer Elacio, Naomi Kissel, Eric M Morrow","doi":"10.1177/08830738251327619","DOIUrl":"10.1177/08830738251327619","url":null,"abstract":"<p><p><b>Background:</b> Christianson syndrome is a rare X-linked disorder characterized by intellectual and developmental disability, epilepsy, and regressions, requiring lifelong care. This study explored family experiences and treatment priorities from the caregiver perspectives. <b>Methods:</b> Qualitative semistructured interviews were conducted with 18 caregivers of 20 patients (aged 4-29 years) to discuss symptom onset, diagnosis, progression, coping, and priorities. Transcripts were thematically analyzed. <b>Results:</b> Initial symptoms included seizures, delayed developmental milestones, and lack of speech. Caregivers described sadness, anger, and feeling overwhelmed after diagnosis. Concerns included seizures, communication challenges, and sleep disruptions. Only half reported robust support networks. Coping strategies included exercise, work, and partner support. Despite challenges, caregivers highlighted the happy, affectionate demeanors of the children. Caregivers emphasized connecting with other families and prioritized treatments for seizures, communication, and preventing regressions. <b>Conclusions:</b> These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"603-611"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12334333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764100","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":"Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.","authors":"Prasanthi Aripirala, Sujit Abajirao Jagtap","doi":"10.1177/08830738251337972","DOIUrl":"10.1177/08830738251337972","url":null,"abstract":"<p><p>Progressive myoclonic epilepsy is a heterogeneous group of disorders characterized by drug-resistant epilepsy, cognitive decline, and ataxia. Genetic testing is crucial for diagnosis, but the choice of test depends on the variant type. We present a case of an adult with a PME phenotype since age 17 years, remaining undiagnosed for 4 years because of improper genetic testing. His father had progressive ataxia with a spinocerebellar ataxia phenotype. The unique presentation, combined with autosomal dominant inheritance and anticipation, suggested dentatorubral-pallidoluysian atrophy. <i>ATN1</i> gene polymerase chain reaction testing confirmed trinucleotide repeat expansion. This case highlights the importance of selecting the appropriate genetic test for accurate diagnosis. We propose a flowchart based on clinical history and findings to narrow down differential diagnoses and guide the choice of testing.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"686-690"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002526","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":"Coenzyme Q10 Supplementation May Be Correlated With Resolution of New Daily Persistent Headache.","authors":"Mrinmayee Takle, Jeffrey Strelzik, Raquel Langdon, Abigail Turner, William McClintock, John Barber, Armelle Dejoie, Emily McCracken, Olivia Goucher, Marc DiSabella","doi":"10.1177/08830738251366866","DOIUrl":"https://doi.org/10.1177/08830738251366866","url":null,"abstract":"<p><p>New daily persistent headache is a chronic, treatment-resistant primary headache disorder with limited guidance on effective management. Despite its significant impact on headache-related quality of life, few studies have identified targeted therapies that contribute to symptom resolution. This study aims to describe the outcomes of pediatric patients diagnosed with new daily persistent headache and assess associations between specific interventions and headache resolution. A retrospective review was conducted using data from a patient registry at Children's National Hospital. Patients diagnosed with new daily persistent headache were included. Demographic characteristics, clinical features, prior treatments, and resolution rates were analyzed. Statistical comparisons were made between patients who experienced headache resolution and those with persistence of headache. A total of 182 pediatric patients were included (mean age: 15.5 years; 78% female). Headache resolution occurred in 47 patients (25.8%). For patients whose new daily persistent headache resolved, coenzyme Q10 (CoQ10) supplementation was the only treatment that reached statistical significance, being more frequently administered in the resolved group compared with the nonresolved group (17% vs 4%, <i>P</i> = .010). Additional treatments approaching statistical significance during resolution of new daily persistent headache included magnesium (<i>P</i> = .086), topiramate (<i>P</i> = .112), and onabotulinum toxin A injections (<i>P</i> = .179). Patients who engaged in regular exercise showed a trend toward higher resolution rates (<i>P</i> = .058). CoQ10 supplementation may play a role in new daily persistent headache resolution, with potential benefit from exercise, magnesium, topiramate, and onabotulinum toxin A injections approaching significance. Further prospective studies and randomized controlled trials are needed to establish causality and optimize treatment strategies for pediatric new daily persistent headache.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251366866"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144955759","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":"Investigating Quality of Life and Adaptive Functioning in Patients With <i>SCN8A</i>-Related Epilepsy.","authors":"Vivien X Xie, Madison M Berl, Zachary Kramer, John M Schreiber","doi":"10.1177/08830738251328397","DOIUrl":"10.1177/08830738251328397","url":null,"abstract":"<p><p><i>SCN8A</i>-related epilepsy is associated with a spectrum of seizure and neurodevelopmental phenotypes; however, there is limited information regarding nonseizure outcomes. We performed a cross-sectional study investigating quality of life (QoL) and adaptive functioning in this population utilizing the Quality of Life Inventory-Disability (QI-Disability) survey and Vineland Adaptive Behavior Scales (VABS). Nineteen patients with <i>SCN8A</i> pathogenic variants were included. There was a significant difference in QI-Disability and VABS scores between clinical epilepsy phenotypes. Greater seizure frequency and number of antiseizure medications were both associated with lower VABS and QI-Disability total scores, but number of antiseizure medications was associated with more QoL domains than seizure frequency. QI-Disability scores were positively associated with adaptive functioning except for the QoL domain of Negative Emotions. This study is the first to characterize the spectrum of QoL and adaptive functioning in the <i>SCN8A-</i>related disorder population and investigate their relationships to each other and to seizure outcomes. Both the QI-Disability and VABS show promise as potential clinical outcome assessments in future <i>SCN8A</i>-related disorder cohorts.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"612-619"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002555","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":"Multiple Hypovitaminoses Presenting as Optic Disc Swelling in a Child with Autism Spectrum Disorder and Restrictive Eating.","authors":"Nagashreyaa Nagajothi, Ruben Jauregui, Scott N Grossman","doi":"10.1177/08830738251339570","DOIUrl":"10.1177/08830738251339570","url":null,"abstract":"<p><p>Optic disc swelling, frequently associated with vitamin A toxicity, is infrequently linked to vitamin A deficiency. This report describes a 6-year-old male with autism spectrum disorder (ASD) and avoidant restrictive food intake disorder who presented with xerophthalmia, optic disc swelling, vision changes, and deficiencies in vitamins A, B₁, and iron. The patient's behavioral dysregulation posed important challenges for the evaluation, diagnosis, and treatment of his hypovitaminoses. This case underscores the importance of considering multiple nutritional deficiencies as the etiology of optic disc swelling in pediatric populations with autism spectrum disorder and avoidant restrictive food intake disorder, diagnoses that have increased in frequency. Early recognition and intervention can prevent further complications such as visual loss and improve outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"700-703"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101815","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":"Glycopyrrolate for Drooling in Children With Neurodisability: Multicenter Study.","authors":"Pinar Ozbudak, Habibe Koc Ucar, Leman Tekin Orgun, Kivilcim Gucuyener","doi":"10.1177/08830738251330414","DOIUrl":"10.1177/08830738251330414","url":null,"abstract":"<p><p>ObjectiveThis multicenter study aimed to evaluate the efficacy and safety of oral glycopyrrolate in children with neurodisabilities experiencing moderate-to-severe drooling.MethodsA total of 159 children diagnosed with cerebral palsy, epileptic encephalopathy, or autism spectrum disorder were assessed using the Drooling Impact Scale, Drooling Severity and Frequency Scale, and quality of life measures at baseline, week 4, and week 12. A structured dose titration protocol was followed, and adverse events were systematically recorded.ResultsOf the 159 children enrolled, 130 completed the study. Significant improvements were observed in Drooling Impact Scale, Drooling Severity and Frequency Scale, and quality of life scores across all groups (<i>P</i> < .001). Cerebral palsy patients exhibited greater variability in Drooling Impact Scale scores than epileptic encephalopathy and autism spectrum disorder groups at weeks 4 and 12 (<i>P</i> < .01). Adverse effects were predominantly mild, with constipation being the most common.ConclusionGlycopyrrolate is an effective and well-tolerated treatment for drooling in children with neurodisabilities, including autism spectrum disorder and epileptic encephalopathy. It presents a viable pharmacologic option for improving salivary control and quality of life.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"634-640"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987030","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":"Children at the Crossroads: A Sociopolitical History of Disability Visibility in the United States.","authors":"Christina Briscoe","doi":"10.1177/08830738251349056","DOIUrl":"10.1177/08830738251349056","url":null,"abstract":"<p><p>Child neurologists face questions about increases in visibility of children with neurologic disabilities in the public sphere from our patients. I explore a historic perspective on why both diagnosis and visibility have increased over the last 60 years and reflect on our role as advocates for children with neurologic conditions.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"601-602"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144560158","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":"Pseudopapilledema Related to Staphylomatous Optic Nerve Elevation in a Child.","authors":"Andrew Silverman, Shannon Beres","doi":"10.1177/08830738251328423","DOIUrl":"10.1177/08830738251328423","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"672-673"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199174","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":"Association of Physiologic Parameters with Neurologic Outcome After Arteriovenous Malformation Rupture in Children.","authors":"Julia S Keenan, Claire Har, Florence Yan, Leigh Sepeta, Katelyn Staso, Caroline R Conley, Arnold J Sansevere, Dana B Harrar","doi":"10.1177/08830738251330110","DOIUrl":"10.1177/08830738251330110","url":null,"abstract":"<p><p>Evidence to guide the critical care management of children with ruptured brain arteriovenous malformations is lacking. We aimed to determine whether there are associations between physiologic parameters and outcome in children with ruptured brain arteriovenous malformations. We performed a single-center retrospective review of patients ≤18 years of age with a ruptured brain arteriovenous malformation from 2011 to 2023. Categorization of outcome was based on the Pediatric Stroke Outcome Measure. Descriptive statistics were used. Most patients with an arteriovenous malformation rupture had a poor outcome at discharge (31/49, 63%) and in follow-up at 3-12 months (21/37, 57%). Patients who were normothermic and normoglycemic for the first 7 days after arteriovenous malformation rupture were less likely to have a poor outcome at discharge than those who had a temperature ≥38 °C (odds ratio [OR] 0.14, 95% confidence interval [CI] 0.04-0.52; <i>P</i> = .01) or a blood glucose ≥200 mg/dL (OR 0.11, 95% CI 0.01-0.92; <i>P</i> = .04). A lower minimum hemoglobin concentration (10.00 g/dL [standard deviation (SD) 1.67] vs 12.46 g/dL [SD 6.29], <i>t</i>(47) 2.07, <i>P</i> = .04) and a higher average partial pressure of carbon dioxide (Paco₂) (40.98 mm Hg [SD 4.30] vs 35.58 mm Hg [SD 7.72], <i>t</i>(47) -2.09, <i>P</i> = .046) were also associated with a poor discharge outcome. A higher average maximum temperature was associated with a poor outcome in follow-up (37.46° C [SD 0.49] vs 37.09 °C [SD 0.59], <i>t</i>(47) -2.09; <i>P</i> = .04). Temperature, blood glucose, hemoglobin concentration, and Paco₂ are potentially modifiable parameters that could be targeted by quality improvement interventions to improve outcomes in this population.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"658-668"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987025","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":"Intracranial <i>Rhizomucor Pusillus</i> Mucormycosis in an Adolescent Triggering a Stroke Alert: A Case Report and a Systematic Review of Pediatric Cases.","authors":"Rima El Atrache, Melissa Mizerik, Joaquin Francisco Ruiz Lopez, Eric Engstrom, Karla Patricia Salazar, Mikael C Guzman-Karlsson, Daniel Davila-Williams, Sonali Sen, Kristen S Fisher, Jennifer C Erklauer","doi":"10.1177/08830738251334939","DOIUrl":"10.1177/08830738251334939","url":null,"abstract":"<p><p>Mucormycosis is a rare, life-threatening opportunistic infection primarily affecting immunocompromised patients. The available literature on <i>Rhizomucor pusillus</i> <i>(R pusillus)</i> infections of the central nervous system (CNS) in children is very limited. We present the case of an immunocompromised adolescent with intracranial mucormycosis due to <i>R pusillus</i> manifesting with stroke-like symptoms. This case highlights this rare condition's diagnostic complexity and management challenges. We include a review of the available literature on pediatric <i>R pusillus</i> CNS infections to increase awareness among health care providers.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"678-685"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12332211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025755","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}