Journal of Child Neurology最新文献

{"title":"Children and Adolescents With Sickle Cell Disease and Skull Infarction: A Systematic Review.","authors":"Alexia M Perez, Danna P Garcia-Guaqueta, Bindu N Setty, Caitlin Neri, Alcy R Torres","doi":"10.1177/08830738241274352","DOIUrl":"10.1177/08830738241274352","url":null,"abstract":"<p><strong>Introduction: </strong>Skull infarction is an uncommonly reported complication of sickle cell disease. We aimed to characterize the clinical and imaging features of skull infarction in pediatric patients with sickle cell disease.</p><p><strong>Methods: </strong>We searched the PubMed database for case reports on skull bone infarction in pediatric patients with sickle cell disease. Out of 67 records retrieved, 15 met inclusion criteria, and a 16th case reported by the senior author was included. We extracted and analyzed clinical and imaging data.</p><p><strong>Results: </strong>The most common symptom at onset was headache (88%). Bilateral skull infarction (50%) and parietal bone involvement (82%) were frequent imaging findings. Epidural hematoma developed in 65% of the cases, 30% of patients required drainage, and exchange infusion was reported in 18%. No fatal outcomes were reported.</p><p><strong>Conclusions: </strong>Skull infarction is a potentially severe complication of sickle cell disease presenting unique clinical challenges. Acute headaches should raise suspicion for this condition and may require additional investigation.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"433-439"},"PeriodicalIF":2.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125832","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":"Successful Management of Febrile Infection-Related Epilepsy Syndrome Using Cytokine-Directed Therapy.","authors":"Dana B Harrar, Ilyse Genser, Mejdi Najjar, Emily Davies, Sangeeta Sule, Birte Wistinghausen, Raphaela Goldbach-Mansky, Elizabeth Wells","doi":"10.1177/08830738241273448","DOIUrl":"10.1177/08830738241273448","url":null,"abstract":"<p><p>Here we describe a pediatric patient with febrile infection-related epilepsy syndrome with a good functional and neurologic outcome after treatment with early and aggressive cytokine-directed immunomodulatory therapy and a seizure management strategy that intentionally avoided a barbiturate coma. A 5-year-old previously healthy male presented with staring, behavioral arrest, and encephalopathy evolving to super-refractory status epilepticus. He had had onset of fever 5 days prior. He was treated with early and aggressive immunomodulatory therapy targeted to his evolving cytokine profile. He was also treated with the ketogenic diet, antiseizure medications, and continuous anesthetic infusions. Pentobarbital was purposely avoided. Now, 2½ years later, he attends mainstream school, has attention-deficit hyperactivity disorder (ADHD), mild neurocognitive impairment, and well-controlled epilepsy. By using cytokine-directed immunotherapy and avoiding a barbiturate coma, we were able to successfully treat a pediatric patient with febrile infection-related epilepsy syndrome and achieve a good outcome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"440-445"},"PeriodicalIF":2.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080442","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":"Corrigendum to “Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One”","authors":"","doi":"10.1177/08830738241287145","DOIUrl":"https://doi.org/10.1177/08830738241287145","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"10 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262184","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":"Recognition and Management of Delirium in the Neonatal Intensive Care Unit: Case Series From a Single-Center Level 4 Intensive Care Unit","authors":"Stacey Dornette, Stephen Deptola, Brianna Hemmann, Charu Venkatesan, DonnaMaria E. Cortezzo","doi":"10.1177/08830738241282099","DOIUrl":"https://doi.org/10.1177/08830738241282099","url":null,"abstract":"Delirium often goes unrecognized in neonates and children because of lack of experience in evaluating behavior and cognition, insufficient awareness of the prevalence, and nondistinctive symptoms in this population. Although there are increasing reports of the presence of delirium in neonates, there are few data to guide the pharmacologic treatment in this population. In this retrospective single-center case series, we present our experience using quetiapine to treat delirium in 9 medically complex neonates. Based on an extensive literature review, expert opinion, and institutional experience, we propose an approach for monitoring and treating delirium in neonates and infants.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"77 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262187","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":"Acute Changes in Liver Function Tests During Initiation of Ketogenic Diet","authors":"Akshat Katyayan, Anuranjita Nayak, Gloria Diaz-Medina, Maureen Handoko, James John Riviello","doi":"10.1177/08830738241272063","DOIUrl":"https://doi.org/10.1177/08830738241272063","url":null,"abstract":"BackgroundKetogenic diet is an effective therapy for patients with medically refractory epilepsy. It is generally well tolerated, with the most common side effects being gastrointestinal. Hepatic toxicity has been described as an uncommon side effect of ketogenic diet, usually with long-term use. However, there are limited data to implicate ketogenic diet in acute liver toxicity.Methods and resultsWe analyzed all patients who underwent elective inpatient ketogenic diet initiation at our institution from June 2019 to June 2022. Of the 25 patients reviewed, we found 6 patients who showed acute, asymptomatic changes in liver function tests during initiation, in both hepatocellular and cholestatic patterns. Two patients stopped the ketogenic diet acutely and 3 patients continued ketogenic diet with changes in medications and/or addition of choline—all patients had improvement and normalization of liver function tests in the short term. One patient had acute normalization of chronically elevated liver function tests on ketogenic diet initiation.ConclusionKetogenic diet can cause acute changes in liver function tests during initiation of ketogenic diet, with both hepatocellular and cholestatic patterns, with and without the concurrent use of hepatotoxic medications. In most patients, ketogenic diet can be continued successfully by making changes to medications or addition of choline.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"4 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262188","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":"Using a Previsit Questionnaire for Initial Visits in a Pediatric Mitochondrial Clinic: Perspectives of Parents, a Specialty Physician, and a Clinical Coordinator","authors":"Coral J. Sepulveda, Elaine Walsh, Kristen Carlin, Russell P. Saneto","doi":"10.1177/08830738241278388","DOIUrl":"https://doi.org/10.1177/08830738241278388","url":null,"abstract":"Objective: In this study, we assessed the usefulness of a previsit questionnaire for children who were referred for an initial evaluation in a mitochondrial subspecialty clinic. We explored the themes regarding parent's questions, concerns, and goals. We aimed to add to existing knowledge about the usefulness of previsit questionnaires in a pediatric specialty setting from the perspective of parents, the specialist, and the clinical coordinator. Method: We enrolled 25 patients and their parent(s) over 25 months. Questionnaires were completed by the parent(s), the clinical coordinator, and the mitochondrial specialist. Descriptive statistics and thematic analysis were used to summarize results. Results: Parental responses suggested that they are most concerned about their child's clinical problems, communication, language and developmental delays, disease progression and prognosis, understanding mitochondrial disease, quality of life, and physical challenges including muscle and energy problems. Parents felt the previsit questionnaire was very helpful for both the doctor and for themselves to be prepared for their visit. The specialist and the clinical coordinator also found it to be helpful. Parental comments suggested that they felt that writing down the story of their child's life was helpful for the provider, allowed time for reflection, and improved the appointment experience. Some felt it was a difficult or redundant activity. Conclusion: Parents were often pleased to complete the previsit questionnaire. This allowed them to highlight concerns and share information that they wanted the care team to know about their child. We revised the tool based on feedback from parents and the specialist and will continue to use it in our clinic.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"1 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262185","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":"Paroxysmal Sympathetic Hyperactivity in Childhood Tuberculous Meningitis: A New Association.","authors":"Prashant Jauhari,Sonali Singh,Agam Jain,Mohan S Sundaram,Gautam Kamila,Rahul Sinha,Biswaroop Chakrabarty,Atin Kumar,Sheffali Gulati","doi":"10.1177/08830738241276234","DOIUrl":"https://doi.org/10.1177/08830738241276234","url":null,"abstract":"BACKGROUNDWe sought to estimate the prevalence and clinical characteristics of paroxysmal sympathetic hyperactivity (PSH) in childhood tuberculous meningitis.METHODSHospital records of children (6 months to 14 years) with tuberculous meningitis were retrospectively analyzed from September 2019 through January 2022. In September 2019, the first case of paroxysmal sympathetic hyperactivity in tuberculous meningitis was identified in our division. Since then, all admitted children with tuberculous meningitis have been screened for paroxysmal sympathetic hyperactivity using the Paroxysmal Sympathetic Hyperactivity Assessment Measure (PSH-AM). Paroxysmal sympathetic hyperactivity is suspected when any of the following are present: recurrence of fever after initial defervescence, episodic posturing, dystonia, or unexplained tachycardia. Outcome at 3 months was prospectively scored according to the Pediatric Cerebral Performance Category score.RESULTSForty-one hospital records of children with tuberculous meningitis were analyzed, and 6 of them had paroxysmal sympathetic hyperactivity (probable paroxysmal sympathetic hyperactivity, 5/6; possible paroxysmal sympathetic hyperactivity, 1/6). Paroxysmal sympathetic hyperactivity appeared after a mean duration of 17 weeks (range: 12-25 weeks) from the diagnosis of tuberculous meningitis in 4 of 6 children and at 4 weeks in 2 of 6 children. Children with tuberculous meningitis who developed paroxysmal sympathetic hyperactivity were younger (median age: 5 years) compared with the nonparoxysmal sympathetic hyperactivity tuberculous meningitis cohort (median age: 10 years). A high proportion of children who developed paroxysmal sympathetic hyperactivity had hydrocephalus at presentation (5 of 6 [83.3%] vs 12 of 35 [34.3%], P = .035). Hospital stay was significantly prolonged in children with probable paroxysmal sympathetic hyperactivity (mean: 71.2 ± 26.8 days) compared with tuberculous meningitis without paroxysmal sympathetic hyperactivity (mean: 20.8 ± 11.6 days; P < .0001).CONCLUSIONParoxysmal sympathetic hyperactivity is a late complication of tuberculous meningitis observed in 14.6% cases and should be anticipated in children with reappearance of fever or neurologic worsening without any apparent cause.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"12 1","pages":"8830738241276234"},"PeriodicalIF":1.9,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142178928","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":"Evidence-Based Infant Assessment for Cerebral Palsy: Diagnosis Timelines and Intervention Access in a Newborn Follow-up Setting","authors":"Ellen N. Sutter, Janet M. Legare, Melissa A. Villegas, Kellie M. Collins, Jens Eickhoff, Bernadette T. Gillick","doi":"10.1177/08830738241279690","DOIUrl":"https://doi.org/10.1177/08830738241279690","url":null,"abstract":"Evidence-based assessment pathways inform early detection of cerebral palsy and access to intervention. This study investigated the relationships between early evidence-based assessments, diagnosis timeline, and rehabilitation intervention access in a population of children with cerebral palsy who were seen between 2010 and 2022 at the University of Wisconsin Waisman Center Newborn Follow Up Clinic. Cerebral palsy–specific assessments were increasingly integrated after the publication of early detection guidelines by Novak et al. in 2017. Age at cerebral palsy first mention (high risk for cerebral palsy) decreased over time, although age at diagnosis remained similar. Infants who received multiple evidence-based assessments were diagnosed at a younger age. Ninety-nine percent of children were referred to rehabilitation therapies before diagnosis. Infant age at referral to outpatient therapies decreased over time. This study provides novel clinical data on diagnosis timelines and identifies remaining gaps related to implementation feasibility toward improved early diagnosis and intervention access.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"9 1","pages":"8830738241279690"},"PeriodicalIF":1.9,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142178929","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":"Nonpharmacologic Treatment Options in Pediatric Tension-Type Headache Patients: A Systematic Review","authors":"David Arce Saez, Amalie Akulenok Berring-Uldum, Nanette Marinette Monique Debes","doi":"10.1177/08830738241280520","DOIUrl":"https://doi.org/10.1177/08830738241280520","url":null,"abstract":"Objective: This systematic review aims to examine effects of nonpharmacologic treatment options for pediatric tension-type headache patients as well as evaluate current results from these treatment options. Background: Headache is a worldwide problem among both adults and children, with tension-type headache among the most common. Methods: Eighteen relevant studies were found using PubMed and evaluated in this review. These include therapy programs, biofeedback, alternative medicine, strength exercise, physical therapy, mindfulness therapy, and psychotherapy. Results: Several nonpharmacologic treatment methods showed improvement in pediatric headache patients, with few reported adverse effects. This suggests that nonpharmacologic treatment is safe for use and might have an effect in most cases. Conclusion: No single intervention has been proven superior to another, and some studies would need replication with a control group to confirm the findings. This study illustrates the variety of nonpharmacologic treatment options and the importance of future research on this topic.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"81 1","pages":"8830738241280520"},"PeriodicalIF":1.9,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142178931","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":"Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.","authors":"Amanda G Sandoval Karamian,Monika Baker,Rachel Palmquist,Jacob Wilkes,Caleb Porter,Jaxon Olsen,LeeAnn Dempsey,Timothy J Tidwell,Matthew Sweney,Joshua L Bonkowsky","doi":"10.1177/08830738241279225","DOIUrl":"https://doi.org/10.1177/08830738241279225","url":null,"abstract":"Objective: To determine whether there is a correlation of genetic diagnosis/result with long-term seizure freedom in pediatric epilepsy patients. Methods: This was a prospective and retrospective cohort study of children with epilepsy referred for genetic testing at a single center. The primary outcomes were presence and type of genetic diagnosis (pathogenic, benign, or variant of uncertain significance) and patient epilepsy status (seizure free, treatment failure, uncertain). Epilepsy gene panels were the primary method of genetic testing. Results: The prospective cohort had 22 patients followed for >11 years and for whom genetic testing was then performed; the retrospective cohort had 78 patients with previous genetic testing followed for >8 years. In the prospective cohort, one patient each of the seizure free or treatment failure groups had a pathogenic genetic variant; mean Combined Annotation Dependent Depletion (CADD) scores 22 and 24, respectively (P = .62). In the retrospective cohort, there was no difference in the number of variants (P = .97), the variant interpretations (P = .29 ClinVar, P = .39 lab interpretation) or mean CADD scores (P = .29) between the seizure-free, treatment failure, and uncertain epilepsy patients. Whole exome and genome sequencing identified pathogenic variants in 70% of patients with treatment failure but were not performed in seizure-free patients. Significance: Our findings show no correlation of the presence or type of epilepsy gene panel result with long-term seizure freedom in pediatric patients. The yield and specificity of pathogenic variants may be higher using whole exome and whole genome sequencing in patients with treatment-resistant epilepsy. Whole exome and whole genome sequencing, or more targeted understanding of specific variants, may be needed to improve the utility of pediatric epilepsy genetic testing.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"38 1","pages":"8830738241279225"},"PeriodicalIF":1.9,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142178930","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}