Journal of Child Neurology最新文献

{"title":"Current Evidence: Seizures in Extremely Low Gestational Age Newborns (ELGANs).","authors":"Mandeep Rana, Juan Diego Vega Gonzales-Portillo, Cecil Hahn, Monideep Dutt, Ivan Sanchez-Fernandez, Rinat Jonas, Laurie Douglass, Alcy R Torres","doi":"10.1177/08830738241259052","DOIUrl":"10.1177/08830738241259052","url":null,"abstract":"<p><p>Extremely low gestational age newborns (ELGANs) are born at or below 28 weeks of gestational age. Despite improved obstetric care, the incidence of preterm birth continues to rise in advanced countries. Preterm birth remains a major cause of infant mortality, and for infants who survive, neonatal seizures are a significant predictor of later neurologic morbidity. However, little is known about risk factors for neonatal seizures in ELGANs. Understanding the association between neonatal seizures and the development of other neurologic disorders is important given the increasing prevalence of ELGANs. Identifying risk factors that contribute to the development of neonatal seizures in ELGANs may offer insights into novel mechanisms of epileptogenesis in the developing brain and improvements in the prevention or treatment of seizures in preterm infants, including ELGANs. In this literature review, we outline the limitations of epidemiologic studies of neonatal seizures in ELGANs and discuss risk factors for neonatal seizures.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"285-291"},"PeriodicalIF":2.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141247828","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":"Determining the Safety and Tolerability of Rapid Administration of Undiluted Intravenous Levetiracetam in Pediatrics.","authors":"Christa Giannaccini, Cassandra Almendras, Irene Li, Michael DiNapoli, Theodore Macnow","doi":"10.1177/08830738241255992","DOIUrl":"10.1177/08830738241255992","url":null,"abstract":"<p><p><b>Objective:</b> Levetiracetam is widely used in the emergency setting. Safety and tolerability of undiluted levetiracetam is prevalent in adults but is limited in pediatrics. The purpose is to determine the safety and tolerability of rapid administration of undiluted levetiracetam in pediatric patients. <b>Methods:</b> A retrospective, single-center, observational study was conducted in pediatric patients who received undiluted levetiracetam intravenous push. The primary outcome was adverse reactions, extravasation, need for intravenous line replacement, and discontinuation due to adverse reactions. The secondary outcome was turnaround time between ordering and administering first doses. <b>Results:</b> One hundred fourteen patients were included. Injection site reactions occurred in 7 patients. Extravasation occurred in 4 patients. Two patients required intravenous line replacement. There were no adverse events leading to discontinuation of levetiracetam. No difference was seen in the time from order to administration. <b>Conclusion:</b> Rapid administration of undiluted levetiracetam in pediatric patients was safe and well tolerated.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"241-245"},"PeriodicalIF":2.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155233","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":"Impact of Race in Missed Appointments in Pediatric Neurology Resident Clinic at a Large Tertiary Medical Center.","authors":"Lauren C Albor, Paul S Horn, Charu Venkatesan, David M Ritter","doi":"10.1177/08830738241264432","DOIUrl":"10.1177/08830738241264432","url":null,"abstract":"<p><p>Missed medical appointments are a common problem across specialties. The discontinuity of care leads to unplanned health care utilization, increased costs, and poor health outcomes. Previous studies evaluating pediatric epilepsy have shown significant socioeconomic barriers to care. In several specialties, resident clinic no-show rates are higher than faculty clinics because of socioeconomic barriers. We sought to understand the relationship between race, socioeconomic factors, and missed appointments in a pediatric neurology resident clinic at a large tertiary care hospital. Resident clinic encounters for 1 year were extracted and analyzed for missed appointments, socioeconomic factors, and health care utilization. We found that missed appointments occur for 1 in 5 patients and correlate with socioeconomic factors (eg, income and insurance) and race. Race was a more significant factor than socioeconomic factors for missed appointments. These results provide areas to target and track interventions to improve health outcomes in children in pediatric neurology clinics.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"268-274"},"PeriodicalIF":2.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748332","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":"Hyperekplexia: A Single-Center Experience.","authors":"Merve Hilal Dolu, Gökçen Öz Tunçer, Ünal Akça, Seren Aydın, Oğuzhan Bahadir, Özlem Sezer, Ayşe Aksoy, Haydar Ali Taşdemir","doi":"10.1177/08830738241263243","DOIUrl":"10.1177/08830738241263243","url":null,"abstract":"<p><strong>Background: </strong>Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia.</p><p><strong>Methods: </strong>The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively.</p><p><strong>Results: </strong>All hyperekplexia patients had displayed neonatal excessive startle response and muscle stiffness, which we accepted as the major form of the disorder. Sixteen patients had mutations in genes associated with hyperekplexia. The ages at clinical diagnosis and genetic confirmation ranged from newborn to 16 years old and from 2.5 to 19 years, respectively. Nine patients (56.25%) were initially misdiagnosed with epilepsy. Seven patients (43.75%) carried a diagnosis of intellectual disability, defined here as a total IQ <80. Delayed gross motor development was detected in 4 patients (25%), and speech delay was reported in 3 (18.75%). Mutations in <i>GLRA1</i> (NM_000171.4) and <i>SLC6A5</i> (NM_004211.5) were identified in 13 (81.25%) and 3 patients (18.75%), respectively. Fifteen of the 16 patients (93.75%) showed autosomal recessive inheritance. Only 1 patient (6.25%) showed autosomal dominant inheritance.</p><p><strong>Conclusion: </strong>Although hyperekplexia is a potentially treatable disease, it can be complicated by delayed speech and/or motor acquisition and also by intellectual disability. This study shows that hyperekplexia is not always a benign condition and that all patients diagnosed with hyperekplexia should be evaluated for neuropsychiatric status and provided with genetic testing.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"260-267"},"PeriodicalIF":2.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758930","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":"Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal.","authors":"Rita Machado, Carmen Costa, Isabel Fineza, Joana Afonso Ribeiro","doi":"10.1177/08830738241256154","DOIUrl":"10.1177/08830738241256154","url":null,"abstract":"<p><p>Neuromuscular disorders are a group of rare heterogenous diseases with profound impact on quality of life, for which overall pediatric prevalence has rarely been reported. The purpose of this study was to determine the point prevalence of pediatric neuromuscular disorders and its subcategories in the central region of Portugal. Retrospective case identification was carried out in children with neuromuscular disorders seen between 1998 and 2020 from multiple data sources. Demographics, clinical and molecular diagnoses were registered. On January 1, 2020, the point overall prevalence in the population <18 years of age was 41.20/100 000 (95% confidence interval 34.51-49.19) for all neuromuscular disorders. The main case proportion were genetic disorders (95.7%). We found a relatively higher occurrence of limb-girdle muscular dystrophies, congenital myopathies, and spinal muscular atrophy and a slightly lower occurrence of Duchenne muscular dystrophy, hereditary spastic paraparesis, and acquired neuropathies compared to previous studies in other countries. Molecular confirmation was available in 69.5% of pediatric neuromuscular patients in our cohort.Total prevalence is high in comparison with the data reported in the only previous study on the prevalence of pediatric neuromuscular disorders in our country. Our high definitive diagnostic rate underscores the importance of advances in investigative genetic techniques, particularly new sequencing technologies, in the diagnostic workup of neuromuscular patients.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"233-240"},"PeriodicalIF":2.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874905","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":"Presence of Auditory Pathway Abnormalities in Children With Neurofibromatosis Type 1 With Brainstem Focal Areas of Abnormal Signal Intensity: Diffusion Tensor Imaging Features.","authors":"Dilek Hacer Cesme, Bahar Atasoy, Gokberk Alkan, Abdusselim Adil Peker, Temel Fatih Yilmaz, Ismail Yurtsever, Akin Iscan, Alpay Alkan","doi":"10.1177/08830738241261110","DOIUrl":"10.1177/08830738241261110","url":null,"abstract":"<p><p><b>Background:</b> To investigate whether there is a difference in mean diffusivity (MD) and fractional anisotropy (FA) values in the auditory pathways of neurofibromatosis type 1 patients with and without focal areas of abnormal signal intensity (FASI) compared to healthy controls by using diffusion tensor imaging (DTI). <b>Methods:</b> Patients were classified as group 1 with focal areas of abnormal signal intensity in the brainstem, group 2 without focal areas of abnormal signal intensity, and healthy control group 3 according to the MRI findings. Mean diffusivity and fractional anisotropy values of lateral lemniscus, inferior colliculus, corpus geniculatum mediale, Heschl gyrus, and brainstem were compared between groups. The correlation between mean diffusivity and fractional anisotropy values of auditory pathways and age was investigated. <b>Results:</b> There was a significant difference between group 1 and group 2 in terms of mean diffusivity and fractional anisotropy values at lateral lemniscus, inferior colliculus, corpus geniculatum mediale, and Heschl gyrus. Increased mean diffusivity and decreased fractional anisotropy values at brainstem were found in group 1. There was a significant difference between group 1 and group 3 in terms of mean diffusivity values at all auditory pathways. Fractional anisotropy values obtained from lateral lemniscus, inferior colliculus, and Heschl gyrus decreased in group 1 compared with group 3. There was a negative correlation between mean diffusivity values and positive correlation between fractional anisotropy values at lateral lemniscus, inferior colliculus, Heschl gyrus, and age. <b>Conclusions:</b> Our diffusion tensor imaging findings show that the neuronal integrity of the auditory pathways is affected in neurofibromatosis type 1 patients with brainstem focal areas of abnormal signal intensity. We think that the disappearance of brainstem focal areas of abnormal signal intensity associated with myelin repair and the regression of diffusion tensor imaging changes in the auditory pathways occur simultaneously with advancing age in patients with neurofibromatosis type 1.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"253-259"},"PeriodicalIF":2.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296188","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":"Has the Incidence of Febrile Convulsions in Childhood Changed During the SARS-CoV-2 Pandemic?","authors":"Monika Kovacs, Lilla Makszin, Zoltan Nyul, Katalin Hollody","doi":"10.1177/08830738241249630","DOIUrl":"https://doi.org/10.1177/08830738241249630","url":null,"abstract":"Introduction: SARS-CoV-2 infection in children is usually asymptomatic or only mild symptoms are typical. The aim of our study was to assess the incidence of febrile convulsions in our own patients with COVID-19. Patients and Methods: In our retrospective study, we reviewed the data of children who presented at our University Hospital from March 2020 to March 2022 with febrile convulsion. The control group were children admitted to the hospital because of febrile convulsions from January 2018 to January 2020. Results: During the coronavirus pandemic, 51 patients were examined with febrile convulsions. The majority (86.3%) of children had their first febrile convulsion during this period. We diagnosed simple febrile convulsions in 40 cases and complicated ones in 11 cases. The family history of febrile convulsion or epilepsy was present in 12 (23.5%) patients. In addition to febrile convulsion, SARS-CoV-2 infection was confirmed by laboratory testing in 4 cases (7.8%). Three of them had febrile convulsion during the Omicron variant period. Conclusions: During the coronavirus pandemic, the number of children examined because of having febrile convulsions was not higher than in the control period. The coronavirus is unlikely to increase the risk of febrile convulsions.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"13 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140838761","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":"Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.","authors":"Muhammad Talal Alrifai, Yousof Alrumayyan, Duaa Baarmah, Ahmed Alrumayyan, Waleed Altuwaijri, Mohammed AlMuqbil, Wafaa Eyaid, Abdulrahman Swaid, Fuad Almutairi, Majid Alfadhel","doi":"10.1177/08830738241252848","DOIUrl":"10.1177/08830738241252848","url":null,"abstract":"<p><p><b>Background:</b> Genetic microcephaly is linked to an increased risk of developmental disabilities, epilepsy, and motor impairment. The aim of this study is to describe the spectrum of identifiable genetic etiologies, clinical characteristics, and radiologic features of genetic microcephaly in patients referred to a tertiary center in Saudi Arabia. <b>Method:</b> This is a retrospective chart review study of all patients with identifiable genetic microcephaly presenting to a tertiary center in Saudi Arabia. The patients' demographics, clinical, laboratory, radiologic, and molecular findings were collected. <b>Results:</b> Of the total 128 cases referred, 52 cases (40%) had identifiable genetic causes. Monogenic disorders were found in 48 cases (92%), whereas chromosomal disorders were found in only 4 cases (8%). Developmental disability was observed in 40 cases (84%), whereas only 8 cases (16%) had borderline IQ or mild developmental delay. Epilepsy was seen in 29 cases (56%), and motor impairment was seen in 26 cases (50%). Brain magnetic resonance imaging (MRI) revealed abnormalities in 26 (50%) of the cohort. Hereditary neurometabolic disorders were seen in 7 (15%) of the 48 cases with monogenic disorders. The most common gene defect was <i>ASPM</i>, which is responsible for primary microcephaly type 5 and was seen in 10 cases (19%). A novel <i>PLK1</i> gene pathogenic mutation was seen in 3 cases (6%). <b>Conclusion:</b> Single gene defect is common in this Saudi population, with the <i>ASPM</i> gene being the most common. Hereditary neurometabolic disorders are a common cause of genetic microcephaly. Furthermore, we propose the <i>PKL1</i> gene mutation as a possible novel cause of genetic microcephaly.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"209-217"},"PeriodicalIF":2.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141283840","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":"Proceedings of the 47th Annual Southern Pediatric Neurology Society Meeting, New Orleans, LA, March 23, 2024.","authors":"","doi":"10.1177/08830738241252515","DOIUrl":"10.1177/08830738241252515","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"39 5-6","pages":"222-226"},"PeriodicalIF":2.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288196","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":"Headache and Other Factors Modifying Cerebrospinal Fluid Opening Pressure in Pediatric Patients.","authors":"Oscar M Espitia Segura, Ana M Bedoya Morales, Cristina L Ramírez-Sierra, Juan D Farfán-Albarracín, Sofy H Pérez Cárdenas, Juan D Sánchez Rincón, Jennifer J Guzmán-Porras, Luisa F López Mora, Mateo H Ramírez Salazar, Leydi A Ceballos Inga, María C Rueda Rodríguez, Hugo A Téllez Prada, Juan C Castro Rubio, Ingrid Lemus Espitia, Juan D Guevara Ramos","doi":"10.1177/08830738241252209","DOIUrl":"10.1177/08830738241252209","url":null,"abstract":"<p><p>Cerebrospinal fluid opening pressure values are associated with various neurologic diseases; however, numerous factors can modify this measurement. This study aims to describe factors related to modifications in opening pressure measurements in pediatric patients. <b>Methods:</b> A retrospective analysis of lumbar punctures in pediatric patients conducted by the neuropediatrics group with institutional standardization. Bivariate and linear regression analyses were performed to determine the association between opening pressure and variables included in the study. <b>Results:</b> 544 events, median age 107 months, median opening pressure 19.7 cm H₂O. Bivariate analysis found no association with medication use; anesthetics that increased opening pressure were remifentanil (<i>P</i> = .02) and propofol (<i>P</i> = .05), along with a positive linear correlation between opening pressure and age (<i>P</i> < .0001). Multiple linear regression analysis revealed that age, BMI, male gender, and remifentanil use were associated with an increase in opening pressure, whereas corticosteroid withdrawal was associated with a reduction in opening pressure. There is an interaction between age and headache, with an association with increased opening pressure up to around 140 months. <b>Conclusion:</b> This study identifies factors associated with changes in opening pressure, crucial for estimating normal opening pressure values in children. Headaches, anesthetic use, and corticosteroid withdrawal are confirmed as significant factors.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"195-200"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944986","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}