Neuropediatrics最新文献_第3页

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

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

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

Phenotype and Genotype of Children with ALS2 gene-Related Disorder. ALS2 基因相关障碍儿童的表型和基因型。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-10-18 DOI: 10.1055/s-0044-1791256

Sangeetha Yoganathan, Madhan Kumar, Rekha Aaron, Srinivasa Raghavan Rangan, Bidkar Sayli Umakant, Maya Thomas, Samuel Philip Oommen, Sumita Danda

{"title":"Phenotype and Genotype of Children with ALS2 gene-Related Disorder.","authors":"Sangeetha Yoganathan, Madhan Kumar, Rekha Aaron, Srinivasa Raghavan Rangan, Bidkar Sayli Umakant, Maya Thomas, Samuel Philip Oommen, Sumita Danda","doi":"10.1055/s-0044-1791256","DOIUrl":"10.1055/s-0044-1791256","url":null,"abstract":"Introduction: The Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) gene encodes a protein alsin that functions as a guanine nucleotide exchange factor. The variations in ALS2 gene leads to degeneration of upper motor neurons of the corticospinal tract. The phenotypes resulting from variants in ALS2 gene are infantile-onset ascending hereditary spastic paralysis (IAHSP, OMIM # 607225), juvenile primary lateral sclerosis (JPLS, OMIM # 606353), and juvenile amyotrophic lateral sclerosis (JALS, OMIM # 205100). Our study objectives were to describe the clinical phenotype and genotype of children with an established diagnosis of ALS2 gene-related disorder.Methods: The clinical details, laboratory data, and genotype findings of children with an established diagnosis of ALS2 gene-related disorder were collected from the hospital electronic database after obtaining institutional review board approval.Results: One family with three affected siblings, a second family with a proband and an affected fetus, and a third family with two affected siblings with ALS2 gene variants were identified. IAHSP was diagnosed in all of our patients with variants in ALS2 gene. The clinical findings observed in our patients were insidious onset progressive spastic paraparesis, contractures, and dysarthria. Nonsense variants were observed in four patients while frameshift variant was observed in one family. Novel variants in ALS2 gene were identified in two unrelated families.Conclusion: ALS2 mutation results in rare neurodegenerative disorders with the clinical spectrum encompassing IAHSP, JPLS, and JALS disorders. In view of allelic heterogeneity described in the literature, more research studies are needed for establishing genotype-phenotype correlation in patients with ALS2 gene-related disorder.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"20-28"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471181","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

Pain in Children and Adolescents with Cerebral Palsy: A Cross-sectional Survey Study. 儿童和青少年脑瘫患者的疼痛：一项横断面调查研究。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-12-09 DOI: 10.1055/a-2474-6503

Lena A Bischoff, Anne Tscherter, Sandra Hunziker, Sebastian Grunt, Nicole T Graf, Christoph T Künzle, Philip J Broser

{"title":"Pain in Children and Adolescents with Cerebral Palsy: A Cross-sectional Survey Study.","authors":"Lena A Bischoff, Anne Tscherter, Sandra Hunziker, Sebastian Grunt, Nicole T Graf, Christoph T Künzle, Philip J Broser","doi":"10.1055/a-2474-6503","DOIUrl":"10.1055/a-2474-6503","url":null,"abstract":"Aim: This study aims to investigate the prevalence, intensity, and location of pain in children and adolescents with cerebral palsy (CP) and analyze pain-related symptoms and participation restrictions.Methods: Children and adolescents aged 2 to 16 years diagnosed with CP were invited to participate in a pain survey. The questionnaire was based on the German Pain Questionnaire for Children, Adolescents and Parents (DSF-KJ). It was administered to children (2-11 years) by their caregivers, while adolescents (12-16 years) were asked to complete the questionnaire themselves or with the help of their caregivers.Results: Fifty-seven of 133 children and adolescents with CP (43%) reported having pain in the past 12 months, of whom 17 (30%) reported chronic pain. Patients with Gross Motor Function Classification System (GMFCS) IV-V reported more frequent pain (p = 0.003) and higher pain intensity (p = 0.011). Lower extremity pain was the most common. Twenty-three percent of participants with pain did not receive any treatment. Pain often restricted participation, specifically by reducing sports activity in patients with GMFCS I-III, focusing attention on patients with GMFCS IV-V, and activities with the family in both GMFCS level categories.Interpretation: Pain is common in children and adolescents with CP and frequently restricts their participation. Therefore, it must be consistently recorded and addressed during the consultation. The goal of treatment should be not only to reduce pain but above all to increase participation.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"43-50"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801862","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

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

Brain Magnetic Resonance Imaging of Neonatal Hypoglycemia: Assessing Injury Extent and Potential Cause. 新生儿低血糖的脑磁共振成像：评估损伤程度和潜在原因。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-08-12 DOI: 10.1055/s-0044-1788975

Zain Alvi, Hisham M Dahmoush, Bruno P Soares

引用次数: 0

Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report. 病例报告：一名 11 岁女孩因 SMC1A 致病变异而患上感觉运动多发性神经病。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2025-02-01 Epub Date: 2024-11-14 DOI: 10.1055/a-2447-1508

Angelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, Carlotta Spagnoli, Stefano G Caraffi, Alberta Leon, Susanna Rizzi, Daniele Frattini, Anna Cavalli, Livia Garavelli, Carlo Fusco

{"title":"Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.","authors":"Angelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, Carlotta Spagnoli, Stefano G Caraffi, Alberta Leon, Susanna Rizzi, Daniele Frattini, Anna Cavalli, Livia Garavelli, Carlo Fusco","doi":"10.1055/a-2447-1508","DOIUrl":"10.1055/a-2447-1508","url":null,"abstract":"Pathogenic variants in the SMC1A gene are often dominant-negative and cause an X-linked form of Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features. However, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS. Here we describe an 11-year-old girl with epilepsy, walking disorder, and neurodevelopmental disorder. A neurophysiological examination of nerve conduction velocity showed a mixed, sensory-motor, chronic 4-limb polyneuropathy. Whole-exome sequencing identified the variant c.3145C > T p.(Arg1049*) in SMC1A (NM_006306.3), which can be classified as pathogenic. To the best of our knowledge, among 79 individuals with SMC1A-related DEE reported in the literature, altered peripheral nerve conduction has never been described. In this article, we propose that severe sensory-motor polyneuropathy could be an expansion of the SMC1A-related phenotype.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"56-60"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625091","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