Journal of Child Neurology最新文献

{"title":"Exploring the Correlations Between Language Impairments, Central Auditory Processing Disorder, Neuropsychiatric Functions, and Seizure Timing in Children With Self-Limited Epilepsy With Centrotemporal Spikes.","authors":"Oğuzhan Tin, Sema Saltık, Halide Çetin Kara, Zehra Koyuncu, Kevser Sak, Aysun Ayaz Sarı, Burak Doğangün, Serhat Güler","doi":"10.1177/08830738241304864","DOIUrl":"10.1177/08830738241304864","url":null,"abstract":"<p><p>BackgroundChildren with self-limited epilepsy with centrotemporal spikes often face language impairments and central auditory processing difficulties. The correlations between these issues, seizure timing, and neuropsychiatric challenges are not fully understood. This study delves into the connections between language impairments and central auditory processing difficulties in cases with self-limited epilepsy with centrotemporal spikes, examining their links with seizure occurrence and neuropsychiatric function.Materials and MethodsPatients with self-limited epilepsy with centrotemporal spikes were categorized based on seizure timing: group 1 experienced seizures postbedtime, and group 2 prewaking. Both, alongside controls, underwent the Turkish Expressive and Receptive Language Test (TIFALDI) for language skills, and the Frequency Pattern and Duration Pattern tests for central auditory processing difficulties. Neuropsychiatric assessments involved the Wechsler Intelligence Scale for Children-Revised, the Strengths and Difficulties Questionnaire, the Conners Parent Rating Scale-Revised Short, and the Barratt Impulsiveness Scale-11.ResultsThe study comprised 56 patients with self-limited epilepsy with centrotemporal spikes (ages 6-13) and 32 healthy controls. Both groups significantly lagged behind controls on the Frequency Pattern and Duration Pattern tests (<i>P</i> < .001). In the TIFALDI, the expressive language scores varied between group 1 and controls (<i>P</i> = .04) but not the receptive language scores or the test's expressive and receptive language results between group 2 and controls (<i>P</i> > .05). In the Strengths and Difficulties Questionnaire, group 1 diverged from controls in behavioral and kind and helpful behavior scores (<i>P</i> = .016 and <i>P</i> = .012). Group 1's Barratt Impulsiveness Scale-11 values surpassed controls' (<i>P</i> = .038).ConclusionChildren with self-limited epilepsy with centrotemporal spikes have a high central auditory processing difficulties prevalence, regardless of seizure timing. Those with postsleep seizures tend to confront expressive language difficulties, alongside issues in prosocial behavior and impulsivity.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"324-331"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828731","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":"Thanks to Reviewers.","authors":"","doi":"10.1177/08830738251317213","DOIUrl":"https://doi.org/10.1177/08830738251317213","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"40 5","pages":"391-393"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999106","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":"Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology.","authors":"Ji-Sun Kim, Shawen Ilaria, Jasdeep Hundal, Vikram Bhise","doi":"10.1177/08830738241308605","DOIUrl":"10.1177/08830738241308605","url":null,"abstract":"<p><p>We present the case of a 15-year-old girl with new-onset psychosis and abnormal white matter activity on neuroimaging, engaging multidisciplinary care between genetics, neurology, psychiatry, and neuropsychology. She functioned well in mainstream education despite below average intellectual functioning. Physical examination findings enabled the diagnosis, and patient improved with joint psychological and behavioral outpatient services.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"374-378"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006197","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":"Cytokine Profiles Associated With Clinical Outcomes in Pediatric Patients With Meningitis: A Systematic Review and Meta-Analysis.","authors":"Daniela Caldas Teixeira, Ana Luisa Lodi Jimenez, Tales Godinho França, Kelvin Oliveira Rocha, Aline Almeida Bentes, Ana Cristina Simões E Silva, Lilian Martins Oliveira Diniz, Roberta Maia de Castro Romanelli","doi":"10.1177/08830738241304862","DOIUrl":"10.1177/08830738241304862","url":null,"abstract":"<p><p>This review evaluated the correlation between inflammatory response and clinical outcomes in pediatric patients with meningitis. PubMed, Scopus, and Web of Science were searched for relevant studies published until March 2024. A total of 139 articles were identified; 7 studies were eligible, and 3 provided data for the meta-analysis. All included articles comprised one of the following cohorts: children with bacterial meningitis, those with aseptic meningitis, or febrile children without evidence of central nervous system infection. The following cytokines and chemocytokines were assessed: interleukin IL-1β, IL-6, IL-17, tumor necrosis factor-alpha, and transforming growth factor-beta 1. Studies on children with bacterial meningitis confirmed by culture found that acute complications and neurologic sequelae were associated with higher concentrations of IL-1β, IL-6, and IL-17. Although this review could not definitively correlate individual inflammatory responses with the prognosis of children with central nervous system infections, IL-6 from cerebrospinal fluid may potentially predict the prognosis of children with bacterial meningitis.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"383-390"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949577","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":"When the Expected Scenario Did Not Occur: A Novel <i>NDUFA12</i> Mutation Resembling Neuromyelitis Optica Spectrum Disorder.","authors":"Ahmet Koçak, Emek Uyur Yalçin, Nilüfer Eldeş Hacifazlioğlu, İbrahim Taş, Rahşan Göçmen, Bahadır Konuşkan","doi":"10.1177/08830738241313081","DOIUrl":"10.1177/08830738241313081","url":null,"abstract":"<p><p>Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. <i>NDUFA12</i>, located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the <i>NDUFA</i> mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an <i>NDUFA12</i> mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering <i>NDUFA12</i> mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on <i>NDUFA12</i> variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"379-382"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006215","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":"Laser Interstitial Thermal Therapy for the Treatment of Mesial Temporal Lobe Epilepsy in Children.","authors":"Aditi M Trivedi, Maria A Montenegro, David Gonda, Olivia Kim-McManus, Neggy Rismanchi, Aliya Frederick, Natalie Guido-Estrada, Anuja Jindal, Shifteh Sattar","doi":"10.1177/08830738241312262","DOIUrl":"10.1177/08830738241312262","url":null,"abstract":"<p><p>ObjectiveFew studies have explored the efficacy of laser interstitial thermal therapy in pediatric epilepsy surgery. This study aims to evaluate seizure-free outcomes in children and adolescents with mesial temporal lobe epilepsy who underwent laser interstitial thermal therapy.MethodsThis was a retrospective cohort study performed at a level 4 epilepsy center. All patients had comprehensive presurgical epilepsy evaluations with a consensus treatment decision made by a multidisciplinary team. Brain magnetic resonance imaging (MRI) data were used to determine lesional vs nonlesional groups. All laser interstitial thermal therapy procedures were performed using Visualase laser ablation systems by the neurosurgical team. Seizure-free outcomes were measured according to the Engel surgical outcome scale.ResultsThis study included 19 patients (12 girls, 7 boys). Age of epilepsy onset ranged from 2 to 17 years (mean 9.9 years), and age at time of surgery ranged from 8 to 20 years (mean 15.1 years). Ten patients (52.5%) had signs of hippocampal sclerosis on MRI (lesional group), and 9 patients (47.5%) had a normal brain MRI (nonlesional group). Engel 1 score was achieved by 14 of 19 patients (73.5%): 9 of 10 patients (90%) in the lesional group and 5 of 9 patients (55.5%) in the nonlesional group. Younger age of seizure onset was a predictor of better postsurgical outcome, but no other outcome predictors could be established.ConclusionLaser interstitial thermal therapy is safe and effective for the treatment of drug-resistant mesial temporal lobe epilepsy in children, rendering more favorable seizure-free outcomes in pediatric patients with hippocampal atrophy than in those with nonlesional mesial temporal lobe epilepsy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"342-347"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065755","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>Balamuthia Mandrillaris</i> Central Nervous System Vasculitis in an Immunocompetent Child: Case Report.","authors":"John Paul Aboubechara, Trishna Kantamneni, Katrina Pasao","doi":"10.1177/08830738241307058","DOIUrl":"10.1177/08830738241307058","url":null,"abstract":"<p><p><i>Balamuthia mandrillaris</i> granulomatous amebic encephalitis is a rare disease that is associated with a high rate of mortality. Delays in diagnosis and treatment are common because of limited information on the organism in addition to its nonspecific clinical presentation. Prior reports have demonstrated that the encephalitis presents as multifocal lesions throughout the central nervous system with enhancement and edema. Here we report a case involving a 4-year-old previously healthy female child with a novel pathologic presentation of <i>B mandrillaris</i> infection, including vasculitis involving multiple large intracranial vessels as well as inflammation of multiple cranial nerves. The infection was ultimately fatal despite early diagnosis and initiation of targeted treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"366-370"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12000622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854450","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":"Early Treatment in Preterm Twins With Spinal Muscular Atrophy.","authors":"Jacob Bistritzer, Dekel Avital, Inbal Golan-Tripto, Ramy Abramsky, Iris Noyman","doi":"10.1177/08830738251322224","DOIUrl":"10.1177/08830738251322224","url":null,"abstract":"<p><p>Early treatment in spinal muscular atrophy is widely recognized as critical for improving neurologic and respiratory outcomes, especially in presymptomatic infants. With the expansion of newborn screening, more infants are now diagnosed presymptomatically. Currently, there are no established treatment guidelines for preterm infants with spinal muscular atrophy, with only anecdotal reports available. Additionally, there is limited knowledge regarding the safety and efficacy of the different treatments in preterm infants. In Israel, although a newborn screening program for spinal muscular atrophy is not yet implemented, a significant portion of the population participates in genetic carrier screening. Here, we present a case of presymptomatic preterm twins, born at gestational age of 32 + 2 weeks, birth weights of 1855 and 1740 g, respectively. They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"371-373"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537246","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":"Parental Perceptions of School Experiences for Children With Epilepsy.","authors":"Mary Kay Irwin, Anup D Patel, Hannah Palme', Daniel M Cohen, Christopher Jones, Daniel Skinner","doi":"10.1177/08830738241309133","DOIUrl":"10.1177/08830738241309133","url":null,"abstract":"<p><p><b>Background:</b> Given the centrality of school to the lives of the more than 450 000 US children living with epilepsy, their interface with schools related to medical and educational needs is critical. This qualitative study explores parental experiences with school systems for the care and education of their children with epilepsy. <b>Methods:</b> Two 90-minute focus groups were empaneled with a total of 11 caregivers of children with epilepsy. Facilitators, moderators, and recorders of each group performed semistructured interviews prompting discussion of families' experiences. Conversations were audio recorded, deidentified, transcribed, and coded. <b>Results:</b> Five central themes emerged: Lack of School Resources (46), Lack of School Support (36), Customized Educational Support Plans (32), Academic Impacts (24), and Positive School Support (22). Families demonstrated a lack of awareness of resources available for their children and reported using other families, advocacy groups, health teams, and others to help. Some participants felt burdened as their child's sole advocate through their educational journey, including educating staff on epilepsy care and fighting for individual educational plans or supplemental resources. Families described global adverse effects of their child's epilepsy on family function related to finances/work, relationships, and sibling depression/anxiety, as well as inconsistent staff education to support students with epilepsy and variable staffing. <b>Conclusion:</b> Families of children with epilepsy face barriers that inform potential areas of improvement within schools. Closer interface between the medical community and educational systems may bridge gaps to ease the burden on families of children with epilepsy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"332-341"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006210","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":"Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.","authors":"Johanna Pohl, Harry Nuss, Almuth Caliebe, Angela Gosch, Elke Reutershahn, Rainer Pankau, Hiltrud Muhle","doi":"10.1177/08830738241305659","DOIUrl":"10.1177/08830738241305659","url":null,"abstract":"<p><p>Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (<i>MAGI</i>2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.02% (6 in 589), and is thus not higher than the incidence in the general population (0.5%-1.0%). West syndrome emerged as the most common epileptic syndrome in patients with Williams-Beuren syndrome (4 of 6) and typically has a favorable prognosis. There was no genotype-phenotype correlation between <i>MAGI</i>2 deletions and West syndrome in this cohort.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"318-323"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006217","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}