Neuropediatrics最新文献_第2页

Severe Disease Activation after Fingolimod Discontinuation in a Pediatric Multiple Sclerosis Patient: A Case Report and Literature Review. 小儿多发性硬化症患者停药后严重疾病激活：1例报告和文献综述。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-12-05 DOI: 10.1055/a-2496-5294

Brenda Huppke, Heike de Vries, Astrid Blaschek, Peter Huppke

引用次数: 0

Precision Medicine in Angelman Syndrome. 安杰曼综合征的精准医疗

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-08-21 DOI: 10.1055/a-2399-0191

Lena Manssen, Ilona Krey, Janina Gburek-Augustat, Cornelia von Hagen, Johannes R Lemke, Andreas Merkenschlager, Heike Weigand, Christine Makowski

引用次数: 0

Efficacy and Tolerability of Lacosamide in Pediatric and Young Adult Epilepsy Patients with Severe Motor and Intellectual Disabilities. 拉科沙胺在小儿和青年癫痫伴严重运动和智力障碍患者中的疗效和耐受性。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-12-30 DOI: 10.1055/a-2508-5990

Nobutsune Ishikawa, Shin Suzuki, Ryota Komori, Hiroki Izumo, Satoshi Goda, Ayana Tsuboi, Kazuhiko Jinno

{"title":"Efficacy and Tolerability of Lacosamide in Pediatric and Young Adult Epilepsy Patients with Severe Motor and Intellectual Disabilities.","authors":"Nobutsune Ishikawa, Shin Suzuki, Ryota Komori, Hiroki Izumo, Satoshi Goda, Ayana Tsuboi, Kazuhiko Jinno","doi":"10.1055/a-2508-5990","DOIUrl":"10.1055/a-2508-5990","url":null,"abstract":"Objective: Epilepsy is common among patients with severe motor and intellectual disabilities (SMID) patients, often taking a prolonged and intractable course. Lacosamide (LCM) is widely used to treat epilepsy in both adults and children. We assess the efficacy and tolerability of LCM among pediatric and young adult epilepsy patients with SMID who suffer from intractable seizures.Methods: This retrospective analysis reviewed the medical records of SMID patients undergoing LCM treatment for more than a year. The study included 24 patients (14 males) aged 3 to 29 years. Epilepsy was classified as focal in 17 patients, generalized in 4 patients, and combined generalized and focal in 3 patients.Results: The retention rates were 70.8%, 65%, and 52.9% at 1, 2, and 3 years after LCM initiation, respectively. The 50% responder rate (achieving >50% seizure reduction) for LCM treatment was 50%, with two patients experiencing complete seizure control (absence of seizures for 6 months before the follow-up visit). The 50% responders included a higher proportion of patients with focal epilepsy (58.8%) compared to those with generalized epilepsy (25.0%). Treatment-emergent adverse events (TEAEs) included somnolence in five patients and nausea in two patients. TEAEs, particularly nausea, developed within 1 month after treatment initiation in two patients, leading to LCM discontinuation.Conclusion: LCM demonstrated good efficacy for intractable epilepsy in pediatric and young adult SMID patients. It was generally well-tolerated, resulting in a favorable retention rate. LCM emerged as a useful antiseizure medication for epilepsy treatment in pediatric and young adult SMID patients.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"119-124"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142922369","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.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-03-31 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":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-31","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

Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-03-27 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":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-27","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

First Evidence-Based Guideline for Interventions in FASD.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-03-19 DOI: 10.1055/a-2547-4610

Sonja Strieker, Florian Heinen, Annika Ziegler, Christine Schmucker, Ina Kopp, Mirjam N Landgraf

{"title":"First Evidence-Based Guideline for Interventions in FASD.","authors":"Sonja Strieker, Florian Heinen, Annika Ziegler, Christine Schmucker, Ina Kopp, Mirjam N Landgraf","doi":"10.1055/a-2547-4610","DOIUrl":"10.1055/a-2547-4610","url":null,"abstract":"Prenatal alcohol exposure causes disruptions in brain development. The resulting disorder, fetal alcohol spectrum disorder (FASD), cannot be cured, but interventions can help improve the daily functioning of affected children and adolescents and the quality of life for the entire family.The aim of the German guideline version 2024 is to provide validated and evidence-based recommendations on interventions for children and adolescents with FASD.We searched for international guidelines and performed a systematic literature review and a hand search to identify literature (published 2012-2022) on interventions for children (0-18 years) with FASD. The quality of the literature was assessed for predefined outcomes using the GRADE method (grading of recommendations, assessment, development, and evaluation). We established a multidisciplinary guideline group, consisting of 15 professional societies, a patient support group, and 10 additional experts in the field. The group agreed on recommendations for interventions based on the systematic review of the literature and formulated additional recommendations, based on clinical experience/expert evidence in a formal consensus process.No international guideline focusing on interventions for patients with FASD was found. Thirty-two publications (4 systematic reviews and 28 original articles) were evaluated. The analysis resulted in 21 evidence-based recommendations and 26 expert consensus, covering the following topics: neuropsychological functioning, adverse effects of therapy, complications/secondary conditions, quality of life, caregiver burden, knowledge of FASD, and coping and self-efficacy.The German guideline is the first internationally to provide evidence-based recommendations for interventions in children and adolescents with FASD.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524020","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

Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-03-05 DOI: 10.1055/a-2541-8540

Jianqing Cao, Meilin Liu, Tianyan Zhang, Hongling Chen, Zhanli Liu

{"title":"Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex.","authors":"Jianqing Cao, Meilin Liu, Tianyan Zhang, Hongling Chen, Zhanli Liu","doi":"10.1055/a-2541-8540","DOIUrl":"https://doi.org/10.1055/a-2541-8540","url":null,"abstract":"To identify and evaluate risk factors for psychiatric disorders in pediatric patients with tuberous sclerosis complex (TSC).We recruited 121 children with TSC from the Hangzhou Children's Hospital between April 2021 and December 2023. Four clinical psychiatric scales were used to screen and diagnose the psychiatric comorbidities of TSC: the autism behavior checklist, the SNAP-IV scale, and the self-rating anxiety and depression scales. Risk factors related to each psychiatric disorder were analyzed using univariate and multivariate regression analyses.Comorbid psychiatric disorders were found in 70 (57.85%) children: 51 (42.15%) cases had autism spectrum disorder (ASD), 49 (40.50%) cases had attention-deficit hyperactivity disorder (ADHD), 17 (14.05%) cases had anxiety, and 14 (11.57%) cases had depression. Uni- and multivariate logistic regression analysis revealed that seizure frequency (>1/month; OR = 6.206, P = 0.021), use of anti-seizure medications (≥ 2 types; OR = 118.869, P = 0.003), infantile spasms (OR = 25.748, P = 0.000), ADHD (OR = 11.170, P = 0.001), and intellectual disability (OR = 32.131, P = 0.001) were risk factors for TSC children with ASD; ASD was the only risk factor for occurrence of ADHD (OR = 7.302, P = 0.022). Seizure duration (≥ 2 years; OR = 56.200, P = 0.036) and seizure frequency (>1/month; OR = 25.855, P = 0.027) were closely related to occurrence of anxiety and/or depression disorders in pediatric patients with TSC.The study results showed that psychiatric comorbidities of children with TSC had a high incidence and risk factors. The study provides new insights into the diagnosis and treatment of comorbid psychiatric disorders in pediatric patients with TSC.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567802","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

Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-03-05 DOI: 10.1055/a-2541-8620

Maria Abel, Manfred Kudernatsch, Sergey Persits, Christina Onyinzo, Thomas Herberhold, Till Hartlieb, Gerhard Kluger, Steffen Berweck

{"title":"Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note.","authors":"Maria Abel, Manfred Kudernatsch, Sergey Persits, Christina Onyinzo, Thomas Herberhold, Till Hartlieb, Gerhard Kluger, Steffen Berweck","doi":"10.1055/a-2541-8620","DOIUrl":"https://doi.org/10.1055/a-2541-8620","url":null,"abstract":"The spinal application of intrathecal baclofen (ITB) has been commonly used as treatment for severe dystonia as well spasticity. However, in rare cases, the use of ITB is not possible or ineffective. Therefore, intraventricular application of baclofen (IVB) mostly using endoscopic navigation has been rarely performed over the last years. As a valid alternative, we introduced navigated frameless stereotaxy for intraventricular catheter placement as the most minimally invasive approach feasible.We retrospectively report on surgical technique, clinical outcome, and long-term complications in all pediatric patients with severe generalized dystonia who received IVB using navigated frameless stereotaxy between April 2009 and June 2021 at our institution.Twenty patients (median age: 13 years; range: 2-23 years) were treated with IVB. Dystonia improved in 19/20 patients at the time of discharge (median 51 days; range 2-93 weeks). During the follow-up period (median: 19 months; range: 3-83 months), there was a total of five surgery-associated complications including 3/20 pump infections and 2/20 intraventricular catheter dislocations.This study reveals that navigated frameless catheter positioning in IVB therapy of generalized dystonia is a comparatively low risk and effective surgical procedure.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567801","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

EBV and Concomitant Acute Motor and Sensory Axonal Neuropathy in a Healthy 15-Year-Old Female.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-20 DOI: 10.1055/a-2532-4172

Rebecca E Basch, McKenna Tierney, Lila Worden, Sara Sanders, Elizabeth A Ng

{"title":"EBV and Concomitant Acute Motor and Sensory Axonal Neuropathy in a Healthy 15-Year-Old Female.","authors":"Rebecca E Basch, McKenna Tierney, Lila Worden, Sara Sanders, Elizabeth A Ng","doi":"10.1055/a-2532-4172","DOIUrl":"10.1055/a-2532-4172","url":null,"abstract":"Acute motor and sensory axonal neuropathy (AMSAN) is a rare and severe form of acute axonal injury caused by immune damage to the axonal membrane. AMSAN is an axonal variant of GBS. GBS occurs from immune injury to the myelin sheath, axonal variants of GBS (AMSAN and AMAN) differ in that insult is to the axonal membrane. AMSAN is seldom seen, especially in pediatric and adolescent patients. Unlike acute motor axonal neuropathy (AMAN), which has been well-described in literature to be secondary to Campylobacter jejuni infection, there is no known etiology of AMSAN. Here, we present a case of an otherwise healthy 15-year-old female who presented with new-onset facial and bulbar weakness that rapidly progressed to functional paralysis requiring intubation. With no clear diagnosis and after failure in improvement with high-dose steroids, Intravenous Immunoglobulin (IVIG), and plasma exchange transfusion, diagnosis was finally made with electromyography (EMG) and nerve conduction study (NCS). In addition, extensive laboratory work was completed and was only notable for primary acute EBV infection. This case represents a new presenting symptom of AMSAN, a unique finding of concomitant primary EBV infection, the possibility of primary Epstein-Barr virus (EBV) infection as the triggering event in AMSAN and stresses the importance of EMG and NCS when evaluating patients with weakness.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188885","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

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-06 DOI: 10.1055/a-2524-9091

Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, Maria L Dentici, Lorenzo Sinibaldi, Maria C Digilio, Antonio Novelli, Emanuele Agolini, Adele D'Amico, Enrico Bertini, Francesco Nicita

{"title":"Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.","authors":"Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, Maria L Dentici, Lorenzo Sinibaldi, Maria C Digilio, Antonio Novelli, Emanuele Agolini, Adele D'Amico, Enrico Bertini, Francesco Nicita","doi":"10.1055/a-2524-9091","DOIUrl":"https://doi.org/10.1055/a-2524-9091","url":null,"abstract":"Background: Non-selective sodium leak channel (NALCN) protein encoded by the NALCN gene is of key importance for neuronal cell excitability. Previous reports showed that biallelic NALCN pathogenic variants cause infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1) while monoallelic variants lead to congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD). In our work, we aimed to expand the heterozygous NALCN-related clinical spectrum, presenting two affected individuals and a literature review.Methods: We describe two new unrelated subjects harboring monoallelic NALCN pathogenic variants identified through clinical exome sequencing and review the current literature of other heterozygous NALCN patients.Results: The c.3542G > A (p.Arg1181Gln) and the novel c.3423C > A (p.Phe1141Leu) heterozygous missense variants were disclosed in two subjects manifesting a similar phenotype characterized by congenital ataxia with progressive cerebellar atrophy, camptodactyly, and hypertrichosis of the arms (CAPCACH). Other NALCN subjects with overlapping features have already been reported. A combination of these clinical and neuroimaging findings suggests the definition of the new CAPCACH phenotype.Conclusion: We expand the heterozygous NALCN-related clinical spectrum from the more severe CLIFFAHDD to the milder CAPCACH phenotype. These conditions should be considered in the differential diagnosis of syndromic congenital ataxias, and the presence of camptodactyly and/or hypertrichosis may represent peculiar diagnostic clues.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365340","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