Neuropediatrics最新文献

{"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":"<p><strong>Introduction: </strong>The Alsin Rho Guanine Nucleotide Exchange Factor (<i>ALS2)</i> gene encodes a protein alsin that functions as a guanine nucleotide exchange factor. The variations in <i>ALS2</i> gene leads to degeneration of upper motor neurons of the corticospinal tract. The phenotypes resulting from variants in <i>ALS2</i> 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 <i>ALS2</i> gene-related disorder.</p><p><strong>Methods: </strong>The clinical details, laboratory data, and genotype findings of children with an established diagnosis of <i>ALS2</i> gene-related disorder were collected from the hospital electronic database after obtaining institutional review board approval.</p><p><strong>Results: </strong>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 <i>ALS2</i> gene variants were identified. IAHSP was diagnosed in all of our patients with variants in <i>ALS2</i> 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 <i>ALS2</i> gene were identified in two unrelated families.</p><p><strong>Conclusion: </strong><i>ALS2</i> 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 <i>ALS2</i> gene-related disorder.</p>","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}

{"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":"<p><strong>Aim: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>p</i> = 0.003) and higher pain intensity (<i>p</i> = 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.</p><p><strong>Interpretation: </strong>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.</p>","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}

{"title":"Brain Magnetic Resonance Imaging of Neonatal Hypoglycemia: Assessing Injury Extent and Potential Cause.","authors":"Zain Alvi, Hisham M Dahmoush, Bruno P Soares","doi":"10.1055/s-0044-1788975","DOIUrl":"10.1055/s-0044-1788975","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"65-66"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971538","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":"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":"<p><p>Pathogenic variants in the <i>SMC1A</i> 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 <i>SMC1A</i> 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 <i>SMC1A</i> (NM_006306.3), which can be classified as pathogenic. To the best of our knowledge, among 79 individuals with <i>SMC1A</i>-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 <i>SMC1A</i>-related phenotype.</p>","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}

{"title":"Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center.","authors":"Mirella Gaboli, Mercedes López Lobato, Justo Valverde Fernández, Patricia Ferrand Ferri, Eloisa Rubio Pérez, Henry A Andrade Ruiz, José María López-Puerta González, Marcos Madruga-Garrido","doi":"10.1055/a-2379-7069","DOIUrl":"10.1055/a-2379-7069","url":null,"abstract":"<p><strong>Background: </strong>Due to the limited data from clinical trials and real-world settings in the realm of nusinersen, there is a need for further evidence. This study seeks to assess the impact of nusinersen, when combined with standard care, on bulbar function, respiratory function, and the necessity for respiratory support among pediatric patients with spinal muscular atrophy (SMA).</p><p><strong>Methods: </strong>Prospective observational study, involving pediatric SMA patients (Types 1-3) undergoing nusinersen treatment at the Hospital Universitario Virgen del Rocío in Spain over at least 24 months. The cohort included 11 SMA type 1 patients, comprising 6 type 1b and 5 type 1c, 12 SMA type 2 patients, and 5 SMA type 3 patients.</p><p><strong>Results: </strong>Twenty-eight pediatric patients were enrolled with the majority being male (<i>n</i> = 20). Patients with type 1 were diagnosed and received treatment significantly earlier than those with types 2 and 3 (<i>p</i> < 0.001). Additionally, there was a longer period between diagnosis and the start of treatment in types 2 and 3 (<i>p</i> = 0.002). Follow-up revealed statistically improved functional and respiratory outcomes associated with earlier initiation of nusinersen treatment at 6, 12, and 24 months in all phenotypes. The ability to swallow and feed correctly remained unchanged throughout the study, with SMA type 1c patients maintaining oral feeding in contrast to patients with SMA type 1b. Notably, no deaths were recorded.</p><p><strong>Conclusions: </strong>This study provides important insights into the real-world clinical progress of pediatric SMA patients and their response to nusinersen treatment, highlighting the significance of early intervention for better functional and respiratory outcomes.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"2-11"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894003","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":"Olivary Hypertrophy Induced Palatal Myoclonus in a Treated Case of Medulloblastoma.","authors":"Ramandeep Singh, Vikas Lakhanpal, Roshwanth A, Sameer Peer, Arvinder Wander","doi":"10.1055/s-0044-1787745","DOIUrl":"10.1055/s-0044-1787745","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"424-426"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427366","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":"Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan.","authors":"Arshad Khan, Neelam Akbar, Sameen Abbas, Saima Mushtaq, Nafees Ahmad, Amjad Khan","doi":"10.1055/a-2366-8580","DOIUrl":"10.1055/a-2366-8580","url":null,"abstract":"<p><strong>Background: </strong>Hydrocephalus is a neurological disease with higher prevalence in the pediatric population, often managed by placing a shunt. This hollow tube drains excess cerebrospinal fluid from the brain to other body parts, resulting in several complications, including neurological and psychometric manifestations and a compromised quality of life (QoL). This study aimed to evaluate QoL in patients with hydrocephalus shunt placement within the pediatric population.</p><p><strong>Methods: </strong>This prospective observational study was conducted in two major Pakistani tertiary care hospitals. A total of 100 subjects were enrolled, of which 52 were found eligible. A validated questionnaire, Hydrocephalus Outcome Questionnaire, was used to evaluate patients' QoL.</p><p><strong>Results: </strong>This study included pediatric patients with a mean age of 6.54 years and a standard deviation of ± 2.64. The male-to-female ratio was 27:25; 2% of patients had congenital or tumor-induced hydrocephalus, while cases of meningitis, encephalocele, and encephalitis accounted for 8, 4, and 2%, respectively. Myelomeningocele had the highest prevalence at 16%. The overall health scores range from 0.39 to 0.51. Social, cognitive, and physical health scores have mean values of 0.54, 0.50, and 0.48, respectively. The minimum physical health score is 0.17, indicating the most significant impact of hydrocephalus on physical function.</p><p><strong>Conclusion: </strong>This study highlights variations in hydrocephalus severity among pediatric patients, impacting their overall QoL, primarily physical and behavioral functioning. Worse health outcomes were associated with frequent seizures, prolonged hospital stays for diagnosis and treatment, shunt infections, increased number of shunt catheters, and longer travel distances to medical facilities.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"375-381"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627238","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":"Correlation of Comorbidities and Variability of Tics in Children with Chronic Tic Disorder.","authors":"Ida Jensen, Nanette Marinette Monique Mol Debes","doi":"10.1055/s-0044-1788045","DOIUrl":"10.1055/s-0044-1788045","url":null,"abstract":"<p><strong>Objective: </strong>Chronic tic disorder (CTD) is characterized by the presence of motor and/or phonic tics, and is often accompanied by comorbidities, where obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) are the most predominant. The aim of this study was to investigate a correlation between comorbidities and variability of tics in children with CTD.</p><p><strong>Method: </strong>A cross-sectional study was completed on a clinical cohort recruited from the Danish National Tourette Clinic at Herlev Hospital. The cohort consisted of 167 children who were examined by the Yale Global Tic Severity Scale. Data regarding comorbidity were collected on 152 of these patients by using validated diagnostic instruments, and the patients were divided into four subgroups: CTD-only, CTD + ADHD, CTD + OCD, and CTD + ADHD + OCD.</p><p><strong>Results: </strong>The comorbidity subgroups had significantly higher severity, impairment, and Total Tic Scores compared to the CTD-only group (<i>p-</i>value ≤ 0.001, 0.001, 0.003, respectively). The assessment of the association between variability of tics and comorbidities showed a significantly higher Simple Phonic Tic Score in the CTD + OCD group compared to the CTD-only group (<i>p-</i>value = 0.003).</p><p><strong>Conclusion: </strong>This study showed significantly higher Simple Phonic Tic Scores in the CTD + OCD group compared to the CTD-only group, which suggests that awareness of the variability of tics in patients with CTD and comorbidities is important.Total Tic Scores, severity of tics, and impairment were significantly higher in the comorbidity subgroups compared to the CTD-only group, which support findings from previous studies.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"382-388"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590931","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":"The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study.","authors":"Daniela Chiarello, Annalisa Perrone, Emilia Ricci, Giulia Ferrera, Francesca Duranti, Silvia Bonetti, Valentina Marchiani, Anna Fetta, Marcello Lanari, Duccio Maria Cordelli","doi":"10.1055/a-2380-6743","DOIUrl":"10.1055/a-2380-6743","url":null,"abstract":"<p><strong>Introduction: </strong>Acute altered mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cannot always easily be inferred based on the patient's clinical presentation, medical history, or early examinations. The aim of this study is to evaluate the role of electroencephalogram (EEG) as a diagnostic tool in AAMS of unknown etiology in children.</p><p><strong>Materials and methods: </strong>We conducted a prospective study involving EEG assessments on children presenting with AAMS between May 2017 and October 2019. Inclusion criteria were age 1 month to 18 years and acute (<1 week) and persistent (>5 minutes) altered mental status. Patients with a known etiology of AAMS were excluded. A literature review was also performed.</p><p><strong>Results: </strong>Twenty patients (median age: 7.7 years, range: 0.5-15.4) were enrolled. EEG contributed to the diagnosis in 14/20 cases, and was classified as diagnostic in 9/20 and informative in 5/20. Specifically, EEG was able to identify nonconvulsive status epilepticus (NCSE) in five children and psychogenic events in four. EEG proved to be a poorly informative diagnostic tool at AAMS onset in six children; however, in five of them, it proved useful during follow-up.</p><p><strong>Conclusions: </strong>Limited data exist regarding the role of EEG in children with AAMS of unknown etiology. In our population, EEG proved to be valuable tool, and was especially useful in the prompt identification of NCSE and psychogenic events.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"395-409"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897915","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":"Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes.","authors":"Sandeep Mishra, Saurav Mishra, Sabina Regmi, Varidh Katiyar, Satish Verma, Guru Dutt Satyarthee, Kanwaljeet Garg, Shashwat Mishra, M C Sharma, ManMohan Singh, Shashank Sharad Kale","doi":"10.1055/s-0044-1788661","DOIUrl":"10.1055/s-0044-1788661","url":null,"abstract":"<p><strong>Background: </strong>Supratentorial intraventricular tumors, encompassing lateral and third ventricular tumors, are uncommon intracranial neoplasms, typically slow-growing and benign, manifesting symptoms only upon reaching a substantial size. This study aims to identify optimal surgical approaches, assess the prevalence and characteristics of these tumors, and evaluate postoperative outcomes among pediatric and adult age groups.</p><p><strong>Methods: </strong>A retrospective comparative study at a tertiary care hospital from January 2014 to June 2020 included 165 patients (68 pediatrics, 97 adults) meeting inclusion criteria for intraventricular tumor management. Data covered demographic factors, clinical history, neurological assessments, neuroimaging, surgical approaches, histopathological diagnoses, immunohistochemical features, adjuvant therapies, follow-up status, postoperative complications, and morbidity/mortality.</p><p><strong>Results: </strong>Ventricular tumor incidence showed male preponderance in both adults (M:F = 1.2:1) and pediatrics (M:F = 3:1). Lateral ventricles were the most common location. Pediatric cases exhibited more frequent calcifications on computed tomography scans (35.6% vs. 29.5%). Grade II and III tumors were more prevalent in adults within the lateral ventricle (27.1 and 1.9%) compared with pediatrics (6.5 and 8.4%). The third ventricle predominantly featured benign lesions, with pediatric patients experiencing significantly longer hospital stays (16.12 ± 21.94 days vs. 9.58 ± 6.21 days) (<i>p</i> = 0.006). Adults and pediatric patients showed a significant difference in high-grade lateral ventricle tumors (<i>p</i>-value = 0.002*).</p><p><strong>Conclusions: </strong>Supratentorial ventricular tumors are relatively more prevalent in children than adults, presenting challenges due to size and bleeding risks. Surgical resection is the primary treatment, with a focus on the optimal approach for gross total excision to reduce recurrence risk.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"356-365"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792922","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}