Journal of Child Neurology最新文献

{"title":"Lacosamide as an Adjunctive Therapy in the Management of Refractory Neonatal Seizures: A Retrospective Study.","authors":"Jeetendra Prasad Sah, Pradeep Javarayee, Siddharth Jain, Samir Karia, Cemal Karakas","doi":"10.1177/08830738241299137","DOIUrl":"10.1177/08830738241299137","url":null,"abstract":"<p><p>ObjectiveNeonatal seizures present significant treatment challenges, often requiring adjunctive antiseizure medications. This study aimed to evaluate the efficacy of lacosamide as an adjunctive antiseizure medication in managing refractory neonatal seizures.MethodsThe study included neonates up to 44 weeks of corrected gestational age who received lacosamide treatment at a level 4 neonatal intensive care unit between January 2015 and December 2023. The collected data encompassed demographic features, birth history, perinatal/postnatal complications, seizure characteristics, and treatment details. The primary outcome was the response to lacosamide, assessed by changes in total seizure burden on electroencephalography (EEG). The cohort characteristics were compared between nonresponders and responders.ResultsThe final analysis was conducted on 18 neonates with available EEG data. Of all patients, 72% showed a favorable response to lacosamide treatment, as evidenced by a reduced seizure burden on EEG. The demographic and clinical characteristics of the neonates varied, including a range of seizure etiologies. Responder and nonresponder groups had no differences in clinical characteristics.ConclusionThis study suggests that lacosamide may be an effective adjunctive antiseizure medication in treating refractory neonatal seizures. Further prospective studies are warranted to confirm these findings and explore the long-term outcomes and safety profile of lacosamide in this vulnerable patient group.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"256-263"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785822","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 and Validation of a Postprocedure Stroke Screening Tool in Children With Cardiac Disease.","authors":"Dana B Harrar, Catherine L Salussolia, Louisa G Keith, Shangyuan Ye, Julie S Meadows, Alexandra Fialkow, Guangyu Zhu, Christina VanderPluym, Bo Zhang, Michael J Rivkin","doi":"10.1177/08830738241302511","DOIUrl":"10.1177/08830738241302511","url":null,"abstract":"<p><p>BackgroundCardiac catheterization in children with heart disease is associated with an increased risk of arterial ischemic stroke. We created and evaluated the diagnostic performance of a bedside screening tool administered postprocedure to identify arterial ischemic stroke.MethodsWe developed a postprocedure stroke screen comprising history of stroke, responsiveness, command following, speech, facial and limb strength symmetry, new seizure, and caregiver concern. We compared the performance of the screening tool in a retrospective cohort of 21 patients with a postcatheterization arterial ischemic stroke and a prospective cohort of 100 consecutive control patients after cardiac catheterization.ResultsThe postprocedure stroke screen delivered a maximum Youden index ranging from 0.810 to 0.937 at threshold scores of 2 or 2.5 and gave a sensitivity and specificity >0.9. The area under the receiver operating characteristic curve ranged from 0.931 to 0.946.ConclusionsWe developed a screening tool with high sensitivity and specificity to identify postcatheterization arterial ischemic stroke in children.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"264-272"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971033","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 Between Social Determinants of Health and Concussion Among High School Students in the United States.","authors":"Nathan E Cook, Charles E Gaudet, Grant L Iverson","doi":"10.1177/08830738241304867","DOIUrl":"10.1177/08830738241304867","url":null,"abstract":"<p><p>We examined the association between social determinants of health and the likelihood of sustaining a concussion among adolescents. Participants in this cross-sectional study were 7164 high school students who completed the 2021 Adolescent Behaviors and Experiences Survey (52.7% girls; mean age = 16.0 years, SD = 1.2; age range 12-18 years). Logistic regression was used to determine which social determinants of health variables were associated with a self-reported history of concussion from playing a sport or being physically active over the past year. One in 10 adolescents (n = 716; 10.0% total; 11.8% of boys, 8.3% of girls) reported sustaining a concussion during the past year. Seven of 10 adolescents (70.3%) reported experiencing at least 1 of 8 negative social determinants of health. A multivariable logistic regression was statistically significant (<i>P</i> < .001), indicating that the negative social determinants of health were associated with having sustained a concussion during the past year; the model explained 12.5% (Nagelkerke <i>R</i>²) of the variance in concussion. Controlling for all other predictors, sports participation (odds ratio [OR] = 3.72, medium effect), housing instability (OR = 3.25, small-medium effect) and limited English language proficiency (OR = 3.05, small-medium effect) were the strongest independent predictors of sustaining concussion within the past year. Adolescents who lived in a neighborhood where there is violence (OR = 1.78, small effect), who were bullied (OR = 1.57, very small effect), and who experienced food insecurity (OR = 1.36, very small effect) were more likely to have sustained a concussion. Research is needed to understand the nature of these determinant-injury associations. Whether social determinants of health are associated with specific treatment and rehabilitation needs, and time to recover following concussion, should be examined with prospective studies.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"278-290"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006194","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":"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":"300-304"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003931/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrarare Cause of Childhood Chorea: Celiac Disease.","authors":"Pinar Ozbudak","doi":"10.1177/08830738241300639","DOIUrl":"10.1177/08830738241300639","url":null,"abstract":"<p><p>IntroductionChorea, a movement disorder that commonly affects children, may be caused by various diseases with metabolic, structural, pharmacologic, or autoimmune origins. Celiac disease is an autoimmune enteropathy that may rarely cause neurologic symptoms in children, primarily ataxia and peripheral neuropathy, even in the absence of gastrointestinal symptoms.Case ReportA 9-year-old male patient diagnosed with Sydenham chorea was admitted to our clinic because of valproic acid resistance. He had involuntary, brief, random, and irregular movements in his arms over the past 2 weeks. A low-dose, high-potency dopamine-2 receptor-blocking agent was added to the patient's treatment regimen. After 2 weeks, he had maculopapular rashes on their hands and arms, as well as arthritis in his left hand. Oral prednisone was prescribed, and the patient's arthritis and rashes were completely resolved. Although movement disorder symptoms persisted in the distal left upper extremity, the chorea in the right upper extremity was recovered. Extensive investigations were conducted to rule out possible metabolic, autoimmune, inflammatory, infectious, and paraneoplastic diseases, all of which yielded normal results. Brain magnetic resonance imaging (MRI) results were normal, and genetic analysis results for chorea were negative. The patient's tissue glutaminase IgG levels exceeded 200 U/mL (normal range: 0-10 U/mL) and IgA levels at 24 U/mL (normal range: 0--10 U/mL), leading to a diagnosis of celiac disease. His duodenal biopsies showed changes consistent with gluten-sensitive enteropathy. After the diagnosis of celiac disease, the patient began a gluten-free diet and remained free of chorea at the 6-month follow-up.DiscussionChorea is a rare neurologic celiac disease manifestation that can be reversible. The celiac disease should be considered in the diagnostic workup of chorea for all ages, particularly in the treatment-resistant population, even in the absence of gastrointestinal symptoms. This report presents the first known case of chorea caused by celiac disease in a pediatric patient.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"296-299"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785823","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":"Assessment of Micronutrient Levels in Pediatric Migraine Patients.","authors":"Fatih Mehmet Akif Özdemir, Halil Çelik","doi":"10.1177/08830738241304868","DOIUrl":"10.1177/08830738241304868","url":null,"abstract":"<p><p>ObjectiveWe aimed to evaluate the relationship between attack frequency and severity and serum levels of micronutrient in pediatric migraine patients.MethodsChildren at 2 hospitals from February to December 2022 diagnosed with migraine were reviewed.ResultsA 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).ConclusionsThis study suggests that assessing micronutrient levels may be beneficial in children with migraine.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"273-277"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","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":"Clinical Impact and Safety Profile of Intravenous Lacosamide Administration as Adjunctive Therapy for Neonatal Seizures.","authors":"C Cortes-Ledesma, E Arias-Vivas, G Ruiz-Ocaña de Las Cuevas, E Santana-Cabrera, A Garcia-Ron","doi":"10.1177/08830738241296177","DOIUrl":"10.1177/08830738241296177","url":null,"abstract":"<p><p>The aim of this retrospective descriptive study was to evaluate the clinical impact and safety profile of lacosamide in neonates with symptomatic refractory seizures.Patients diagnosed with symptomatic refractory seizures who received lacosamide were included in the study. Follow-up assessments were conducted until 24 months of age, during which data on lacosamide dosage, duration of exposure, concurrent treatments, and potential side effects were collected. A total of eight patients were enrolled, with lacosamide administered as a third- or fourth-line treatment for symptomatic refractory seizures. Following loading dose, 62.5% of the patients achieved complete remission of seizure activity without recurrence. In the remaining cases, a reduction in seizure frequency was observed. No adverse effects attributable to lacosamide were reported.In conclusion, lacosamide may be effective in achieving seizure remission in newborns with symptomatic refractory seizures, and all patients demonstrate excellent tolerance. Brief exposure to lacosamide was sufficient, and no adverse effects were observed up to 24 months of age. However, randomized controlled trials are necessary to confirm these findings.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"291-295"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142621029","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":"Fetal Alcohol Spectrum Disorder and Pediatric Neurology: Are We Missing the Connection? A Scoping Review.","authors":"Michael Burd, James Miles, Graysen Myers, Bailey Engesether, Erika Johnson","doi":"10.1177/08830738241303328","DOIUrl":"10.1177/08830738241303328","url":null,"abstract":"<p><p>IntroductionPediatric neurology provides care for children with complex developmental disorders with environmental, genetic, metabolic, and teratogenic etiologies. Common neurodevelopmental conditions include attention-deficit hyperactivity disorder (ADHD), and autism spectrum disorder. However, only minimal attention from pediatric neurology journals has been devoted to fetal alcohol spectrum disorder. This is surprising because fetal alcohol spectrum disorder is a common neurodevelopmental disorder with a prevalence of between 1% and 5% of school-age children.MethodsThis scoping review had 2 objectives. Objective 1 was to estimate the number of articles reporting on fetal alcohol spectrum disorder in 8 well-respected pediatric neurology journals. Objective 2 was to determine how many patients from a single pediatric neurology practice referred to a clinic for diagnosis and management of neurobehavioral disorders received a diagnosis of ADHD, autism spectrum disorder, and fetal alcohol spectrum disorder.ResultsObjective 1, a survey of 8 prominent pediatric neurology journals until January 2024, found that a title and abstract search identified 1786 articles on the three topics. Papers on autism spectrum disorder (n =1043) accounted for 58.4% of the total. Papers on ADHD (n = 685) comprised 38.4% and articles on fetal alcohol spectrum disorder (n = 58) contributed just 3.3% of the total.Objective 2, a chart review of 40 patients from a single pediatric neurology clinic who were referred for developmental assessment and management, found that 40% had prenatal alcohol exposure and 20% received a diagnosis of fetal alcohol spectrum disorder. High rates of comorbidity between fetal alcohol spectrum disorder and ADHD of 21% and of fetal alcohol spectrum disorder and autism spectrum disorder of 2.5% were found.ConclusionsBecause fetal alcohol spectrum disorder is one of the most common causes of neurodevelopmental disorders, the limited attention to fetal alcohol spectrum disorder in pediatric neurology journals is concerning. This study suggests that in addition to ADHD and autism spectrum disorder, fetal alcohol spectrum disorder may also be a common diagnosis in pediatric neurology practice. Pediatric neurology journals may need to take active steps to increase content on fetal alcohol spectrum disorder. This could include editorials, invited commentaries, or topical reviews. Early recognition and diagnosis of fetal alcohol spectrum disorder allows for the implementation of specific interventions, which can improve the quality of life for patients and families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"249-255"},"PeriodicalIF":2.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882152","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 Features and Predictors of Unfavorable Outcomes in Infantile Epileptic Spasms Syndrome: Results from a Multiancestry Cohort.","authors":"Dana Thaher, Abdullah Alkfaween, Ruba Benini","doi":"10.1177/08830738251326631","DOIUrl":"https://doi.org/10.1177/08830738251326631","url":null,"abstract":"<p><p><b>Background:</b> Infantile epileptic spasms syndrome is an epileptic encephalopathy with poor prognosis. <b>Objective:</b> To describe clinical features and predictors of unfavorable outcomes of infantile epileptic spasms syndrome in a multiancestry cohort. <b>Methods:</b> Retrospective cross-sectional chart review analysis at a single tertiary pediatric hospital in 56 patients with infantile epileptic spasms syndrome. <b>Results:</b> Fifty-nine percent were males. Most patients (57%) were from the Middle East North African region. The mean age at onset of spasms was 6.6 months (±3.5 mo). At presentation, 80% of patients had a preexisting neurologic disorder, an abnormal development (66%), and/or an abnormal neurologic examination (73%). Hypsarrhythmia on electroencephalography (EEG) was reported in 55% of patients. Etiology was identified in 75%. Abnormalities on neuroimaging were common (70%), and 54% had abnormal genetic testing. The preferred first-line treatment was vigabatrin (66%) followed by high-dose oral steroids (16%). Only a minority (∼30%) experienced complete resolution of their epileptic spasms/hypsarrhythmia by 2 weeks. At the last follow-up, 84% of patients had an abnormal development and 40% were still on antiseizure medications. Comorbidities were common (75%). The majority of patients had unfavorable outcomes, including abnormal development (84%) and/or drug-resistant epilepsy (45%). Preexisting abnormal development/neurologic examination or neurologic conditions, perinatal risk factors, neuroimaging abnormalities, and an identified etiology were associated with increased odds ratios for unfavorable developmental outcomes or drug-resistant epilepsy. <b>Significance:</b> Clinical features and outcomes of infantile epileptic spasms syndrome in this multiancestry cohort confirms findings of previous epidemiologic studies, recognizes some differences, and highlights risk factors that can be used for early identification of patients with predicted unfavorable outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251326631"},"PeriodicalIF":2.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742942","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":"<i>TANGO-2</i>: A Rare Genetic Condition With Severe Clinical Presentation of Encephalopathy, Rhabdomyolysis, and Cardiac Rhythm Disorders in 2 Children.","authors":"Khairunnisa Mukhtiar, Shahnaz Ibrahim, Quart-Ul-Ain Khalid","doi":"10.1177/08830738251328404","DOIUrl":"https://doi.org/10.1177/08830738251328404","url":null,"abstract":"<p><p>Biallelic pathogenic or likely pathogenic variants in Transport and Golgi Organization 2 (<i>TANGO-2</i>) are associated with a spectrum of clinical features including encephalopathy, rhabdomyolysis, cardiac rhythm disorders, and neurologic regression. We are reporting on 2 unrelated children with biallelic <i>TANGO-2</i> pathogenic variants. These variants were identified through a Next Generation Sequencing (NGS) panel of genes associated with hereditary rhabdomyolysis. Both children had a history of developmental delay, especially in their motor milestones. They also experienced episodic transient weakness with acute illness. One of the children's siblings had similar complaints and died at an early age. During their illness, both children developed extreme lethargy with very high CPK levels, lactic acidosis, rising trends of transaminases, and recurrent hypoglycemia. Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy. Despite intensive symptomatic management, both patients died of cardiac failure because of fatal ventricular arrhythmia. Genetic testing revealed the presence of biallelic pathogenic variants <i>TANGO-2</i>. This rare genetic condition should be suspected in any patient with episodic recurrent weakness, rhabdomyolysis, abdominal pain, and cardiac arrhythmias, because of its diverse clinical presentation. However, early diagnosis is challenging because there are no specific biochemical markers for the disease. There is strong evidence that vitamin B supplementation can significantly reduce the number of metabolic crises in these children. Although this is not a targeted therapy, it can be a potentially life-saving treatment for these patients.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328404"},"PeriodicalIF":2.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742940","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}