Neuropediatrics最新文献

Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany. 在德国第三新生儿科中心的一个大型明确的多中心队列中新生儿癫痫发作的特征。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-16 DOI: 10.1055/a-2710-4474

Verena Kraus, Ulrich Schatz, Marcus Krüger, Franziska Krampe-Heni

{"title":"Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany.","authors":"Verena Kraus, Ulrich Schatz, Marcus Krüger, Franziska Krampe-Heni","doi":"10.1055/a-2710-4474","DOIUrl":"10.1055/a-2710-4474","url":null,"abstract":"Prevalence of seizures is 1 to 5/1,000 neonates. The most common causes of neonatal seizures are hypoxic-ischemic encephalopathy (HIE), vascular events (hemorrhages, stroke), and infections. We assessed prevalence and etiology of seizures defined according to the recent Brighton and International League of Epilepsy (ILAE) criteria in a neonatology monocenter cohort.In a retrospective cross-sectional cohort study of all 12,154 neonates born in our three maternities from January 1, 2022 to December 31, 2023 seizures were categorized by frequency, etiology, risk profile, semiology, and EEG. A total of 19 neonates (male: n = 11 [57.9%]; full-term: n = 11 [57.9%]; preterm very low birth weight [VLBW]: n = 6 [31.6%]; preterm >1,500 g birth weight: n = 2 [10.5%]) were identified.In 19/12,154 neonates, seizures were confirmed by application of the ILAE criteria. Preterm VLBW was found in 174 neonates with birth weight <1,500 g. Seizure incidence was 1.6/1,000 in all neonates and 3.4% in VLBW infants. HIE was the most frequent etiology in term infants (30.8%), followed by vascular events in preterm >1,500 g and term infants (30.8%). Vascular events were the most common cause in preterm VLBW infants (83.3%). Whole exome sequencing (WES) was performed in four cases (21.1% of neonates with seizures).Incidence of neonatal seizures in our center is in the lower range and leading seizure etiologies are comparable to the literature. Early recognition of neonatal seizures including the detection of electrographic-only seizures and early WES to identify rare genetic defects possibly offering tailored treatment options have the potential to further raise the standard of neonatal care and improve neurodevelopmental outcome.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177151","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}

引用次数: 0

Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy? 杜氏肌营养不良症的运动功能是否因突变位点而异？

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-16 DOI: 10.1055/a-2713-8641

Esra Aldırmaz, Numan Bulut, Öznur Tunca, İpek Alemdaroğlu-Gürbüz

{"title":"Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?","authors":"Esra Aldırmaz, Numan Bulut, Öznur Tunca, İpek Alemdaroğlu-Gürbüz","doi":"10.1055/a-2713-8641","DOIUrl":"10.1055/a-2713-8641","url":null,"abstract":"This study aimed to investigate whether the site of DMD gene mutations is linked to motor functions in children with Duchenne muscular dystrophy (DMD).A total of 58 children with DMD, aged between 7 and 16 years, were divided into two groups according to the site of mutation (proximal or distal). Motor functions of the groups were compared.The physical and demographic characteristics of two groups were similar (p > 0.05). Distal group had significantly worser Brooke Lower Extremity Functional Classification (BLEFC) (median 3) and D2 score of Motor Function Measure (MFM-32/D2) (mean 86.78 ± 19.83) than proximal group [BLEFC, median 1; MFM-32/D2, mean 93.77 ± 14.89] (p ≤ 0.05). There was no difference in timed performance tests and Four Square Step Test between two groups (p > 0.05).Considering that mutations in the distal site of the DMD gene may lead to poorer motor function, performance outcomes, dynamic balance and functional status compared to proximal mutations, it is important to take the mutation site into account in the evaluation and intervention of children with DMD. Early recognition of the mutation site may help professionals implement timely and proactive strategies to maintain motor functional abilities for a longer duration.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239137","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}

引用次数: 0

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG. PMM2-CDG中继发性生物素酶缺乏和生物素补充的研究。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-06 DOI: 10.1055/a-2708-3016

Nastassja Himmelreich, Sven F Garbade, Jürgen G Okun, Simone Hengst, Virginia Geiger, Rita Barone, Saskia B Wortmann, Christian Thiel

{"title":"Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.","authors":"Nastassja Himmelreich, Sven F Garbade, Jürgen G Okun, Simone Hengst, Virginia Geiger, Rita Barone, Saskia B Wortmann, Christian Thiel","doi":"10.1055/a-2708-3016","DOIUrl":"https://doi.org/10.1055/a-2708-3016","url":null,"abstract":"The congenital disorders of glycosylation (CDG) encompass >190 multiorgan disorders with predominantly neurodevelopmental phenotypes with no causative treatment available. The glycoprotein biotinidase (BTD) provides biotin, an essential cofactor for carboxylases in ubiquitous metabolic pathways. Individuals with (partial) BTD deficiency (BTDD) and CDG patients show overlapping phenotypes like movement disorders, seizures, and neurodevelopmental issues. Biotin is a water-soluble, inexpensive, and safe food supplement. Patients with primary BTDD respond well to oral biotin supplement. We here explore secondary BTDD and the effect of biotin supplementation in PMM2-CDG in an initial open-label study.BTD activity in dried blood spots from 29 individuals with PMM2-CDG indicated a mean reduction to 27% (range: 23.0-40.5%) at group level. Patients (mean: 19.6 ± 11.9 years) were supplemented with 10 mg biotin daily for 12 months. The parents/caretaker reported positive responses in 62 to 69% of patients across seven (performance, social, at home, self-control, self-care, leisure, health) of the nine categories covered by the Adaptive Behavior Assessment System-II (ABAS-II) questionnaires. The reported positive effect of biotin supplementation differed between age groups, ranging from 54% (16-43 years) via 62% (2-5 years) to 80% (6-13 years). Its effect was reported to be the highest in the moderate to severely affected patient subgroups, with significant improvements in home functioning, health, performance, leisure, self-control. No adverse effects were reported.Given the absence of other treatments, the supportive effect of Biotin in PMM2-CDG deserves further exploration.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145239176","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}

引用次数: 0

Exercise Intervention Influences on Sleep and Anxiety in Children with Autism Spectrum Disorder: A Meta-Analyses of Randomized Controlled Trials. 运动干预对自闭症谱系障碍儿童睡眠和焦虑的影响：随机对照试验的荟萃分析。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-03-19 DOI: 10.1055/a-2561-8487

Jiaju Wang, Jiangyan Li, Feifei Wang, Yang You

{"title":"Exercise Intervention Influences on Sleep and Anxiety in Children with Autism Spectrum Disorder: A Meta-Analyses of Randomized Controlled Trials.","authors":"Jiaju Wang, Jiangyan Li, Feifei Wang, Yang You","doi":"10.1055/a-2561-8487","DOIUrl":"10.1055/a-2561-8487","url":null,"abstract":"Related issues, such as sleep disturbance, are also frequently reported by children with autism spectrum disorder (ASD). This study systematically reviewed the influences of exercise on sleep and anxiety in children with ASD. Search for eligible studies through four databases, and then proceed with screening. The inclusion criteria are as follows: 1) children with ASD; 2) age 3 to 14 years; 3) randomized controlled trial (RCT); 4) the intervention group received exercise training; 5) conducted pre-and posttest, which includes sleep and anxiety. Use the Cochrane bias risk assessment tool to evaluate the quality of the selected study. Select standardized mean difference (SMD) as the appropriate effect scale index, and use Revman 5.4 software to analyze the mean difference of the selected article data. A total of seven studies fulfilled the inclusion criteria and were selected for the meta-analysis. The included studies involved 387 males and 79 females. The results demonstrated that the EXP group benefited from improved sleep (SMD, -1.05 [-1.25, -0.85], p < 0.05, I2 = 27%, p for heterogeneity = 0.22) and anxiety (SMD, -1.14 [-1.56, -0.72], p < 0.05, I2 = 95%, p for heterogeneity < 0.01) than the CON group. According to the findings, physical activities could offer nonpharmacological interventions for improving sleep and anxiety in children diagnosed with ASD. Sports training could also be considered to promote the rehabilitation of children patients with ASD, which might provide valuable insights.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"302-309"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664081","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}

引用次数: 0

Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome. GLUT1缺乏综合征的眼危象与交叉步态。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-05-07 DOI: 10.1055/a-2580-0048

Ashna Kumar, Pradeep Kumar Gunasekaran, Veena Laxmi, Sujatha Manjunathan, Lokesh Saini

引用次数: 0

Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants. 极低出生体重儿的经验性抗生素治疗与神经发育结局。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-03-19 DOI: 10.1055/a-2561-8208

Marina P Menegolla, Rita C Silveira, Antônio R H Görgen, Fernanda E Gandolfi, Carolina Panceri, Renato S Procianoy

{"title":"Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants.","authors":"Marina P Menegolla, Rita C Silveira, Antônio R H Görgen, Fernanda E Gandolfi, Carolina Panceri, Renato S Procianoy","doi":"10.1055/a-2561-8208","DOIUrl":"10.1055/a-2561-8208","url":null,"abstract":"To determine the effects of empiric antibiotic therapy within the first 72 hours after birth, in cases of suspected early-onset sepsis without positive blood cultures, on the neurodevelopment of VLBW infants.Cohort study conducted from January 2014 to December 2021, included neonates from 24 to 32 weeks' gestation. They were categorized based on receiving early antibiotics. Outcomes measured included neonatal morbidities and scores on the Bayley Scales of Infant Development, Third Edition (BSID-III), at 12 to 36 months corrected age.Of 261 VLBW infants 52.9% (n = 138) received empiric antibiotics within the first 72 hours, while 47.1% (n = 123) did not. Multivariate analysis revealed no association between early antibiotics and neurodevelopmental delay. Severe intraventricular hemorrhage independently correlated with delays, while late-onset sepsis and bronchopulmonary dysplasia contributed to specific motor and cognitive delays. Propensity score matching (PSM) was conducted using various models that included gestational age, late-onset sepsis, severe intraventricular hemorrhage, bronchopulmonary dysplasia, and clinical chorioamnionitis. However, antibiotic use was not independently associated with an increased risk of developmental delay in the applied models.Although the use of antibiotics did not emerge as an independent factor contributing to developmental delay, VLBW infants who received antibiotics had more morbidities during their NICU stay.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"320-327"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664079","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}

引用次数: 0

Comparative Analysis of Full Outline of Unresponsive Score and Glasgow Coma Scale Score for Outcomes Prediction in Children with Impaired Consciousness. 无反应全大纲评分与格拉斯哥昏迷评分对意识受损儿童预后预测的比较分析。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-06-18 DOI: 10.1055/a-2627-1974

Bablu Kumar Gaur, Mohamad Habib F Meman, Shruti Jain

{"title":"Comparative Analysis of Full Outline of Unresponsive Score and Glasgow Coma Scale Score for Outcomes Prediction in Children with Impaired Consciousness.","authors":"Bablu Kumar Gaur, Mohamad Habib F Meman, Shruti Jain","doi":"10.1055/a-2627-1974","DOIUrl":"10.1055/a-2627-1974","url":null,"abstract":"This study aimed to compare two distinct consciousness evaluation scores (the pediatric Glasgow coma scale [GCS] scale and the full outline of unresponsive [FOUR] score) to predict outcomes for children admitted to the pediatric intensive care unit with impaired consciousness.Children aged between 2 and 18 years who presented with impaired consciousness were included in this longitudinal study. The lead investigator evaluated the pediatric GCS score and the FOUR score. The first 3 days' score readings of both the scores were taken for analysis. The primary outcome of children was recorded as in-hospital mortality. The secondary outcome was functional outcome measured by the modified Rankin scale.A total of 78 children presented with impaired consciousness were eligible for statistical analysis. Survivors and nonsurvivors had significantly different FOUR and GCS scores at admission, 24 and 48 hours (p < 0.0001). The predictive accuracy of the FOUR scale at admission was slightly higher than GCS considering that the area under the curve (AUC) for the FOUR score was higher (AUC = 0.850; 95% confidence interval [CI]: 0.735-0.956) than GCS (AUC = 0.834; 95% CI: 0.735-0.934). The projected outcome based on the FOUR score and the actual patient outcomes were statistically significantly correlated (p = 0.021). Results showed that the FOUR scores had higher sensitivity (89%) specificity (84%), and negative predictive value (83%) than the GSC scale.The FOUR at admission was a better predictor of the outcome as compared with the Glasgow coma scale. More sensitivity of the FOUR scores than GCS makes it an advisable predictive model for children with impaired consciousness.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"310-319"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326385","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}

引用次数: 0

Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and Acetazolamide. 溶质载体45A1：一种新的脑葡萄糖转运蛋白脑障碍伴局灶性难治性癫痫对生酮饮食和乙酰唑胺反应。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-06-04 DOI: 10.1055/a-2627-2097

Benoit Semal, Sebastian Neuens, Catheline Vilain, Corinne De Laet, Gil Leurquin-Sterk, Claudine Sculier, Simon Baijot, Alec Aeby

{"title":"Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and Acetazolamide.","authors":"Benoit Semal, Sebastian Neuens, Catheline Vilain, Corinne De Laet, Gil Leurquin-Sterk, Claudine Sculier, Simon Baijot, Alec Aeby","doi":"10.1055/a-2627-2097","DOIUrl":"10.1055/a-2627-2097","url":null,"abstract":"Solute carrier family 45 member A1 (SLC45A1) is a glucose brain transporter predominantly expressed in the developing and adult brain, including the cortex and cerebellum. Pathogenic variants in SLC45A1 have been described in four patients from two unrelated families with dysmorphic features, intellectual disability, and focal epilepsy. We describe the fifth SLC45A1 patient, presenting with focal refractory epilepsy responsive to ketogenic diet (KD) and acetazolamide.A 3-year-old boy presented with developmental delay and unexpected nighttime arousals followed by sudden right arm extension suggestive of epilepsy. Long-term video electroencephalogram and semiology were evocative of a left-frontal focus. Brain magnetic resonance imaging (MRI) was normal. Clinical exome, metabolic evaluation, and lumbar puncture were non-contributive. The patient was treated unsuccessfully with carbamazepine, valproate, levetiracetam, lamotrigine, topiramate, lacosamide, and clobazam. Presurgical evaluation was planned because of refractory epilepsy. Meanwhile, a KD was introduced, and the child became seizure-free with cognitive improvement. After 2 years, the KD was stopped, and seizures relapsed. Acetazolamide was introduced with seizure freedom for 10 months. Exome analysis revealed compound heterozygous variants p.Pro560Leu and p.Arg57Cys in the SLC45A1 gene.This case illustrates that KD and acetazolamide might be effective in SLC45A1-related epilepsy and underscores the importance of genetic testing in the presurgical evaluation of epilepsy.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"342-346"},"PeriodicalIF":1.2,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336785","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}

引用次数: 0

Nausea, Vertical Gaze Palsy, and Excessive Sleep: An Unusual Presentation of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder. 恶心、垂直凝视麻痹和过度睡眠：儿童aqp4抗体阳性NMOSD的不寻常表现

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-06-02 DOI: 10.1055/a-2625-0994

Tatjana A Oberholzer, Leonie Plastina, David Wille, Selma Sirin, Annette Hackenberg

引用次数: 0

NEP 50th Annual Meeting of the Society for Neuropediatrics 2025. NEP第50届神经儿科学会年会2025。

IF 1.2 4区医学

Neuropediatrics Pub Date : 2025-10-01 Epub Date: 2025-09-26 DOI: 10.1055/a-2680-2539

Andrea Klein

引用次数: 0