Neuropediatrics最新文献

{"title":"Central Vestibular Syndrome in Leber Hereditary Optic Neuropathy \"Plus\".","authors":"Gianluca D'Onofrio, Julie Dery, Aristides Hadjinicolaou","doi":"10.1055/a-2579-9997","DOIUrl":"10.1055/a-2579-9997","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"355-356"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032614","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":"Effect of Modified Constraint-Induced Movement Therapy on Upper Limb Function in Children with Hemiplegic Cerebral Palsy.","authors":"Ehab Mohamed Abd El-Kafy, Nahla Ahmad Almatrafi, Mohamed Salaheldien Alayat, Nawal Alami Tawhari, Najwa Fawzi Abuallam, Hayam Mahmoud Mahmoud","doi":"10.1055/a-2616-4893","DOIUrl":"10.1055/a-2616-4893","url":null,"abstract":"<p><p>To assess the effectiveness of modified constraint-induced movement therapy (mCIMT) in improving upper limb function and grip strength in children with hemiplegic cerebral palsy (CP). A comprehensive search was conducted from inception to August 2024. Eligibility criteria were studies evaluating the effectiveness of mCIMT on upper limb function in children with hemiplegic CP aged over 2 years. The following data was extracted from each study: participant characteristics, intervention, outcome measures, follow-up, and key findings. The risk of bias and the quality of the evidence were evaluated using the PEDro scale and the grading of recommendations assessment development and evaluation (GRADE), respectively. A meta-analysis using a random-effect model was performed, and standardized mean difference (SMD) with a 95% confidence interval (CI) was estimated for upper limb function and grip strength. A total of 25 studies (1,115 children) were included. PEDro scale revealed 12 good-quality studies, 8 fair-quality studies, and 5 poor-quality studies. The currently available evidence showed a significant large effect of mCIMT in improving upper limb function (SMD: 1.14 [95% CI: 0.46-1.83]; <i>p</i> = 0.001; 12 studies; 454 children; very-low-quality evidence) and significant medium effect in improving grip strength (SMD: 0.63 [95% CI: 0.12-1.14]; <i>p</i> = 0.02; 3 studies; 92 children; low-quality evidence). mCIMT could improve upper limb function and grip strength in children with hemiplegic CP. However, due to the low and very low quality of evidence, further high-quality trials are needed to confirm these effects. PROSPERO registration number (CRD42023413525).</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"281-301"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110944","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":"Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study.","authors":"Gülsüm Yitik Tonkaz, Şeyda Arslan, Gökhan Tonkaz, Ali Çakir, Serdar Saritaş, Aysun Hacer Saritaş","doi":"10.1055/a-2595-0501","DOIUrl":"10.1055/a-2595-0501","url":null,"abstract":"<p><p>This study aims to evaluate difficulties in emotion regulation and accompanying psychiatric symptoms in adolescents diagnosed with migraine.The study included 30 adolescents aged 12 to 18 years diagnosed with migraine and 30 age- and sex-matched healthy controls. Participants were assessed using the Difficulties in Emotion Regulation Scale (DERS-16), the Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA), and the Revised Child Anxiety and Depression Scale (RCADS). Additionally, parents completed the Strengths and Difficulties Questionnaire (SDQ).Adolescents with migraine showed significantly greater difficulties in emotion regulation (DERS-16 total score, <i>t</i> = 3.521, <i>p</i> = 0.026, effect size = 0.64) and higher levels of depression, generalized anxiety and social anxiety (RCADS score <i>t</i> = 4.328, effect size = 1.32, <i>p</i> < 0.01; <i>t</i> = 2.354, effect size = 0.59, <i>p</i> = 0.022; <i>t</i> = 3.363, effect size = 1.12, <i>p</i> < 0.01, respectively) compared to controls. Parental assessments indicated higher internalizing and total difficulty scores in the migraine group (SDQ score <i>z</i> = 2.633, effect size = 048, <i>p</i> = 0.008; <i>t</i> = 2.419, effect size = 032, <i>p</i> = 0.016; <i>t</i> = 2.095, effect size = 029, <i>p</i> = 0.036, respectively). However, there were no significant group differences in the use of emotion regulation strategies (ERQ-CA score <i>t</i> = -0.236, <i>p</i> = 0.814; <i>t</i> = -0.957, <i>p</i> = 0.104, respectively).This study highlights the psychological and emotional difficulties experienced by adolescents with migraine, emphasizing the importance of early psychiatric evaluation and psychotherapeutic interventions aimed at improving emotion regulation skills and psychosocial interventions focusing on lifestyle modifications as part of comprehensive migraine management. Limitations include the cross-sectional design, reliance on self-report measures, and modest sample size, which may limit generalizability. Future longitudinal and neurobiologically informed research is needed to clarify causal relationships and intervention targets.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"328-337"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009637","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":"Botulinum Toxin for Children: A Graphic Summary of 30 Years of Innovation and Practice - From a Single Case to More Than 130,000 Sessions.","authors":"Marina Chiron, A Sebastian Schroeder, Steffen Berweck, Alexandra Sitzberger, Urban M Fietzek, Florian Heinen","doi":"10.1055/a-2639-5964","DOIUrl":"10.1055/a-2639-5964","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"347-352"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591862","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":"Prenatal Diagnosis of ANKLE2-Related Microcephaly Mimicking Zika Infection.","authors":"Gabrielle R Barsh, Carly M Smith, Dena R Matalon, Bruno P Soares","doi":"10.1055/a-2695-7275","DOIUrl":"https://doi.org/10.1055/a-2695-7275","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145054807","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":"Quality of Life of Children and Adolescents with Epilepsy Compared to Their Healthy Peers: A Cross-Sectional Study.","authors":"Robert Opitz, Miriam Gerstner, Lena Mühe, Malin Zaddach, Leonie Grosse, Katharina Vill, Astrid Bertsche, Ingo Borggraefe","doi":"10.1055/a-2686-0818","DOIUrl":"10.1055/a-2686-0818","url":null,"abstract":"<p><p>Epilepsy significantly impacts the health-related quality of life (HRQoL) of children and adolescents (CaA). This study aimed to assess HRQoL in pediatric epilepsy patients compared to their healthy peers, using both self- and proxy-reports, and to identify specific HRQoL domains affected by epilepsy.A single-center, cross-sectional study was conducted in Munich between October 2021 and June 2023. HRQoL was assessed in 139 patients aged 3 to 17 years with medically diagnosed epilepsy using age-adapted, validated KINDL© questionnaires, completed by the patients and one caregiver. The questionnaire comprised six subscales: \"Physical Well-being,\" \"Emotional Well-being,\" \"Self-Esteem,\" \"Family,\" \"Friends,\" and \"Everyday Functioning.\" Control values from healthy CaA aged 7 to 17 were drawn from the BELLA and KiGGS studies. Welch tests and Wilcoxon signed-rank tests were used for statistical comparisons.Compared to their healthy peers, CaA with epilepsy reported significantly lower HRQoL overall, particularly in the subscales \"Physical Well-being,\" \"Emotional Well-being,\" and \"Friends.\" No significant differences were observed in the \"Family\" subscale. Interestingly, self-reports revealed a trend toward higher \"Self-Esteem\" scores among CaA with epilepsy, though this did not reach statistical significance. No significant differences emerged between self- and proxy-reported total HRQoL scores.Epilepsy in CaA is associated with reduced HRQoL, especially in physical, emotional, and social domains. Stable family support can cushion some negative effects. In particular, the unexpectedly high results in the area of self-confidence should be the subject of future research.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144883347","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":"Anti-CD20 versus Dimethyl Fumarate as First-Line Treatment for Pediatric Multiple Sclerosis: A Retrospective Cohort Study.","authors":"Masoud Etemadifar, Aryana Ramezani, Pantea Miralaei, Nahad Sedaghat, Amir M Jozaie, Mehrzad Ghorbani, Mehri Salari, Hasan Kaveyee","doi":"10.1055/a-2683-1150","DOIUrl":"10.1055/a-2683-1150","url":null,"abstract":"<p><p>Consensus on the first-line treatment of pediatric-onset multiple sclerosis (POMS) remains unresolved. Recently, dimethyl fumarate (DMF) and anti-CD20 therapies have been among the favorable options for pediatric multiple sclerosis (MS).This study aimed to determine the effectiveness and safety of DMF versus anti-CD20 therapies for POMS.We conducted a retrospective cohort study from July 2012 to July 2022 in the Isfahan MS clinic. MS cases under the age of 18 years old who received DMF or anti-CD20 agents as first-line treatment and were followed for at least 12 months were included.About 124 POMS cases were screened, of which 39 met the inclusion criteria. About 23 patients received DMF, while 16 patients received anti-CD20 (rituximab or ocrelizumab). The median (interquartile range, IQR) annualized relapse rate (ARR) decreased significantly (both with <i>p</i> < 0.0001) from 2.63 (0.68) to 0.0 (1.0) in the DMF group and from 2.89 (1.39) to 0.0 (1.0) in the anti-CD20 group. The median (IQR) expanded disability status score insignificantly changed from 1.0 (1.0) to 1.0 (0.5) in the DMF group, while it changed from 1.25 (1.0) to 1.0 (0.5) in the anti-CD20 group. After 12 months of follow-up, 12/16 in the anti-CD20 group and 17/23 in the DMF group were relapse-free. None of the treatment outcomes were different between the two treatment cohorts. Our study also assessed adverse events (AEs).While subject to replication in future clinical trials, both DMF and anti-CD20 therapies had a significant effect on reducing ARR and disease activity with an acceptable safety profile, but in our study, there were no differences in their efficacy.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855927","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":"Noninvasive Neuromonitoring in Children.","authors":"Victoria Lieftuechter, Nora Bruns, Timo Deba, Moritz Tacke","doi":"10.1055/a-2679-1709","DOIUrl":"https://doi.org/10.1055/a-2679-1709","url":null,"abstract":"<p><p>The term \"neuromonitoring\" denotes several methods that are used to monitor the state of the central nervous system. It is mainly used in intensive care units to mitigate the limitations of the clinical neurological examination, which arise in the context of critical illness, sedation, and neuromuscular blockade. In the pediatric intensive care units, neuromonitoring methods are increasingly used across all age groups. This article aims to give an overview of the four most frequently used technical noninvasive neuromonitoring modalities (electroencephalogram, near-infrared spectroscopy, transcranial Doppler, and automated pupillometry) and the evidence for their use in three clinical scenarios: seizures, increased intracranial pressure, and stroke.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963321","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":"Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials.","authors":"Miranda Creasey, Mathula Thangarajh","doi":"10.1055/a-2648-3203","DOIUrl":"10.1055/a-2648-3203","url":null,"abstract":"<p><p>We investigated the racial and ethnic distribution of participants in Duchenne muscular dystrophy (DMD) phases II and III clinical trials.A total of 36 DMD phases II and III clinical trials were analyzed for racial and ethnic information. Publicly available demographic information was collected from DMD phases II and III clinical trials registered between 2005 and 2018 from the clinical trials database (clinicaltrials.gov). Clinical trial participation was also analyzed based on geographic location (international vs. United States) and funding source (industry vs. academia).White participants accounted for 84% of study participants in DMD phases II and III clinical trials in both multinational studies and within the continental United States. Among the 36 trials, 22% (8/36) did not report racial data, and 44% (16/36) did not report ethnicity. Most DMD phases II and III clinical trials were funded by industry (89%) compared with the National Institutes of Health (3%) and other sources (8%).White participants are most represented in DMD phases II and III clinical trials. The documentation of racial and ethnic information in DMD clinical trials is insufficient. These data highlight the need for further approaches to diversify and include equitable representation in DMD clinical trials.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144560645","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 Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 Variant.","authors":"Sabine Ebner, Kajus Merkevicius, Barbara Schnell, Eva Stern, Johannes A Mayr, Peter Hofbauer, Saskia B Wortmann","doi":"10.1055/a-2668-4602","DOIUrl":"https://doi.org/10.1055/a-2668-4602","url":null,"abstract":"<p><p>Disease-causing variants in <i>KCNMA1</i> are associated with a spectrum of epilepsy and/or movement disorders, often with additional developmental issues or intellectual impairment. Monoallelic gain-of-function variants often lead to paroxysmal nonkinesigenic dyskinesia (PNKD). While the treatment mechanism is unknown, dextroamphetamine and its prodrug lisdexamfetamine have been shown to successfully control the debilitating PNKD with up to several hundred daily incidents in one patient with the <i>KCNMA1</i> (NM_001161352.2) c.1606A > C p.(Asn536His) and six patients with the c.3158A > G p.(Asn1053Ser) variant. Via exome sequencing, a monoallelic <i>KCNMA1</i> c.2367C > A, p.(Asp789Glu) variant was detected in a 7-year-old girl with daily behavioral arrests, tremors, and drop attacks/PNKD occurring every 8 weeks. The girl had moderate difficulties in mainstream school and experienced challenges in her social life as she was easily fatigued. Additionally, she was heat-intolerant and unable to sweat. Lisdexamfetamine treatment led to cessation of the neuro(psycho)logical symptoms, better functioning in daily life and at school during more than 2 years of follow-up. This report illustrates the importance of an exact, genetic diagnosis for successful individual treatment. It adds another previously unreported variant in <i>KCNMA1</i>. Furthermore, this case increases the evidence for a broader treatment effect of lisdexamfetamine for <i>KCNMA1</i> variants beyond its known effects on the control of muscle tone, in this case illustrated by better social interaction, improved attention/school performance, and mood. Finally, the previously unreported findings of heat intolerance and inability to sweat may extend the phenotypic spectrum associated with <i>KCNMA1</i> variants.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855928","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}