Neuropediatrics最新文献_第7页

Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study. 早产儿的振幅综合脑电图 (aEEG) - 一项前瞻性队列研究。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-10-09 DOI: 10.1055/a-2436-8767

Gayathri G Vinnakota, Leslie E Lewis, Shruthi K Bharadwaj, Jayashree Purkayastha, Anand K Patil

{"title":"Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study.","authors":"Gayathri G Vinnakota, Leslie E Lewis, Shruthi K Bharadwaj, Jayashree Purkayastha, Anand K Patil","doi":"10.1055/a-2436-8767","DOIUrl":"10.1055/a-2436-8767","url":null,"abstract":"Objective: The study aimed to interpret and establish patterns of amplitude-integrated electroencephalogram (aEEG) in stable preterm neonates and compare the aEEG among different gestational age groups using three standard classifications.Methods: This prospective cohort study included stable preterm neonates between 240/7 and 366/7 weeks of gestation. aEEG was recorded in the first and second week of life and interpreted using the L. Hellström-Westas, Burdjalov, and Magalhães classification for background pattern, continuity, upper and lower margin amplitude, sleep-wake cycle, bandwidth, and presence of seizures. Subgroup analysis was performed based on ≤30 and >30 weeks' gestation.Results: A total of 76 aEEG recordings were analyzed from 45 preterm neonates. In the first week, 60% of the neonates had normal voltage patterns, which increased to 80% in the second week. All infants ≤30 weeks displayed discontinuous wave patterns during the first week, and half transitioned to continuous waves in the second week. The lower margin amplitude increased, and the upper margin amplitude decreased with increased gestational age. Additionally, 65% of neonates had a mature sleep-wake cycle in the second week compared with 22% in the first week. The median (interquartile range) CFM score in the second week was 12 (4.5) compared with 8 (4) in the first week, and the CFM score positively correlated with gestation (Spearman correlation coefficient, 0.8; 95% confidence interval, 0.7-0.86). Magalhães grading in both groups was predominantly normal.Conclusion: aEEG is predominantly a continuous normal voltage pattern in >30 weeks' gestation and discontinuous in ≤30 weeks' gestation. CFM score correlates positively with advancing gestation gestational age.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"111-118"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392192","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

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

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

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

X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples. 肌肉和肝脏样本中的 X 连锁肌管肌病和线粒体功能

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-07-15 DOI: 10.1055/s-0044-1788333

Kenji Inoue, Takeo Kato, Eisuke Terasaki, Mariko Ishihara, Tatsuya Fujii, Yuko Aida, Kei Murayama

{"title":"X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples.","authors":"Kenji Inoue, Takeo Kato, Eisuke Terasaki, Mariko Ishihara, Tatsuya Fujii, Yuko Aida, Kei Murayama","doi":"10.1055/s-0044-1788333","DOIUrl":"10.1055/s-0044-1788333","url":null,"abstract":"X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy that commonly manifests with liver involvement. In most XLMTM cases, disease-causing variants have been identified in the myotubularin gene (MTM1) on chromosome Xq28, which encodes myotubularin protein (MTM1). The impairment of mitochondrial respiratory chain (MRC) enzyme activity in muscle has been observed in the XLMTM mouse model. Though several reports mentioned possible mechanisms of liver involvement in XLMTM patients and animal models, the precise underlying mechanisms remain unknown, and there is no report focused on mitochondrial functions in hepatocytes in XLMTM. We encountered two patients with XLMTM who had liver involvement. We measured MRC enzyme activities in two muscle biopsy specimens, and one liver specimen from our patients to investigate whether MTM1 variants cause MRC dysfunction and whether mitochondrial disturbance is associated with organ dysfunction. MRC enzyme activities decreased in skeletal muscles but were normal in the liver. In our patients, the impaired MRC enzyme activity found in muscle is consistent with previously reported mechanisms that the loss of MTM1-desmin intermediate filament and MTM1-IMMT (a mitochondrial membrane protein) interaction led to the mitochondrial dysfunction. However, our study showed that liver involvement in XLMTM may not be associated with mitochondrial dysfunction.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"51-55"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141620553","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

Evaluation of the Behavioral Effect of Psychostimulants in Children with Autism Spectrum Disorder: A Cross-Sectional Study. 评估精神兴奋剂对自闭症谱系障碍儿童的行为影响：一项横断面研究

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-08-06 DOI: 10.1055/s-0044-1788891

Francisca de Azevedo E Silva, João P Morais, Alda Mira Coelho

{"title":"Evaluation of the Behavioral Effect of Psychostimulants in Children with Autism Spectrum Disorder: A Cross-Sectional Study.","authors":"Francisca de Azevedo E Silva, João P Morais, Alda Mira Coelho","doi":"10.1055/s-0044-1788891","DOIUrl":"10.1055/s-0044-1788891","url":null,"abstract":"Background: Autism spectrum disorder (ASD) is often accompanied by comorbid conditions such as attention deficit hyperactivity disorder and epilepsy. In this context, patients are often treated with psychostimulants in an attempt to control behavioral symptoms. This study aims to understand the behavioral effects of psychostimulants in children with ASD and investigate if interictal epileptiform discharges on electroencephalogram (EEG) can act as a modifying factor in this behavior.Methods: Sixty-eight patients with ASD who were being accompanied in the Department of Child and Adolescent Psychiatry of the Centro Hospitalar Universitário de São João and had previously done an EEG assessment answered a questionnaire regarding their behavioral response to psychostimulants.Results: In total, 47.4% of patients reported improved agitation, 56.1% enhanced concentration, and 8.8% improved sleep. Conversely, 28.1% experienced worsened agitation, 15.8% worsened concentration, and 17.5% worsened sleep. The remaining reported no alterations. The age of diagnosis correlated significantly with improved agitation, with a higher diagnosis age being associated with a higher probability of improvement. Extended-release methylphenidate and genetic variations were significantly associated with worsening of agitation. Regarding speech, 86% exhibited no changes, while 14% showed alterations, mostly, 87.5%, characterized as negative. For other behavioral alterations, 45.6% reported negative changes, 3.5% reported positive changes, and 50.9% reported no additional alterations. Female gender was significantly associated with other negative behavioral changes. A significant correlation was found between treatment duration and the probability of improvement in agitation, concentration, and other behavioral changes.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"34-42"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897914","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

Introducing a New Editor-in-Chief and Thanks to Reviewers and Authors. 介绍新主编，感谢审稿人和作者。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2025-01-17 DOI: 10.1055/a-2499-7759

Ingo Borggraefe, Saskia Wortmann

引用次数: 0

Response to Letter to the Editor: Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy. 回应致编辑的信：Nusinersen 对脊髓性肌肉萎缩症儿童呼吸和球部功能的影响。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-11-08 DOI: 10.1055/a-2437-6075

Mirella Gaboli, Mercedes López-Lobato, Justo Valverde-Fernández, Patricia Ferrand-Ferri, Eloisa Rubio-Pérez, Henry A Andrade-Ruiz, José M López-Puerta González, Marcos Madruga-Garrido

引用次数: 0

Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence. 纽西那生对脊髓性肌肉萎缩症儿童呼吸和球部功能的影响通信。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-10-22 DOI: 10.1055/a-2434-6190

Hinpetch Daungsupawong, Viroj Wiwanitkit

引用次数: 0

The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine. 降钙素基因相关肽和淀粉样蛋白在小儿偏头痛中的作用

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-08-12 DOI: 10.1055/s-0044-1788787

Hilal Aydin, Ozgür Baykan

{"title":"The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine.","authors":"Hilal Aydin, Ozgür Baykan","doi":"10.1055/s-0044-1788787","DOIUrl":"10.1055/s-0044-1788787","url":null,"abstract":"Background: Very few studies have examined the relationship between calcitonin gene-related peptide (CGRP) and amylin levels and the disease in patients with migraine. The purpose of this study was to compare blood CGRP and amylin levels between pediatric migraine patients and healthy controls and the relationship between CGRP and amylin levels and migraine attack frequency and duration.Materials and methods: The study involved two separate groups-control and migraine. Thirty-two patients aged 6 to 18 years presenting to the Balikesir University Medical Faculty pediatric neurology clinic and diagnosed with migraine were included. The control group consisted of 32 patients without migraine presenting to the clinic during the same time frame. The patients' demographic data, personal and family histories, migraine type and frequency, headache severity, basic anthropometric measurements (height, weight, and body mass index), and physical and neurological examination findings were recorded. Migraine patients were classified as ictal if the collection of blood specimens coincided with the attack period and as interictal if this was performed between attacks.Results: No statistically significant differences in mean CGRP or amylin levels were determined between the groups (migraine ictal/interictal) or between the migraine patients (in terms of gender or attack frequency and duration).Conclusion: Elucidating the complex processes involved in the pathogenesis of migraine is important in terms of our ability to develop new treatments and therapeutic strategies. This study aimed to evaluate CGRP and amylin levels in patients with pediatric migraine (in the ictal and interictal periods) compared with those in healthy controls.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"29-33"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971539","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