Journal of Child Neurology最新文献

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Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study. 歌舞伎综合征的综合临床和遗传特征:一个病例系列研究。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-12-16 DOI: 10.1177/08830738241291622
Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano
{"title":"Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.","authors":"Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano","doi":"10.1177/08830738241291622","DOIUrl":"10.1177/08830738241291622","url":null,"abstract":"<p><p>Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the <i>KMT2D</i> and <i>KDM6A</i> genes.The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the <i>KMT2D</i> and <i>KDM6A</i> genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"208-217"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142836666","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
Low Lesion Clearance Rates in Neurocysticercosis: Is It Time to Review Guidelines? 神经囊尾蚴病病灶清除率低:是时候重新审视指南了吗?
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-11-03 DOI: 10.1177/08830738241290550
Prabal Barman, Naveen Sankhyan, Renu Suthar, Sameer Vyas, Lokesh Saini, Arushi Saini, Jitendra K Sahu
{"title":"Low Lesion Clearance Rates in Neurocysticercosis: Is It Time to Review Guidelines?","authors":"Prabal Barman, Naveen Sankhyan, Renu Suthar, Sameer Vyas, Lokesh Saini, Arushi Saini, Jitendra K Sahu","doi":"10.1177/08830738241290550","DOIUrl":"10.1177/08830738241290550","url":null,"abstract":"<p><p>BackgroundThe standard treatment guidelines of neurocysticercosis have been described as per computed tomography (CT)-based studies. We aimed to prospectively study if posttreatment magnetic resonance imaging (MRI) clearance rates of neurocysticercosis were like those reported in literature using CT.MethodsA prospective observational study in newly diagnosed children with neurocysticercosis was undertaken. Children were treated with antihelminthics and steroids and followed up after 6 months. The primary objective was to study the proportion of children with single-lesion neurocysticercosis who were in radiologic resolution at 6 months and clinical remission (seizure-free for the preceding 3 months).ResultsEighty of 128 consecutive children screened were included (single lesion, 65; multiple lesions, 15). Seventy-two children were evaluated at 6 months. Seizure recurrence was seen in 5 (6.2%). Brain MRI showed an overall clearance of lesions in 10 (14%) children. In the children with single-lesion neurocysticercosis (65), 59 were followed up at 6 months, and lesions resolved in 9 (15.3%, 95% confidence interval of 6.1-24.4).ConclusionsIn children with single-lesion neurocysticercosis treated with antihelminthics and corticosteroids, the lesion resolution rate is only 15% at 6 months. Thus, there is a need to review old recommendations and use MRI as a standard outcome measure.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"186-190"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568787","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
Electroencephalographic (EEG) Stages in Patients With Cerebral Edema Following Cardiac Arrest. 心脏骤停后脑水肿患者的脑电图 (EEG) 阶段。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-11-18 DOI: 10.1177/08830738241289161
David E Horvat, Julia S Keenan, Caroline Conley, Katelyn Staso, Dana B Harrar, Arnold J Sansevere
{"title":"Electroencephalographic (EEG) Stages in Patients With Cerebral Edema Following Cardiac Arrest.","authors":"David E Horvat, Julia S Keenan, Caroline Conley, Katelyn Staso, Dana B Harrar, Arnold J Sansevere","doi":"10.1177/08830738241289161","DOIUrl":"10.1177/08830738241289161","url":null,"abstract":"<p><p>ObjectiveTo describe electroencephalographic (EEG) changes in pediatric patients with cerebral edema after cardiac arrest.MethodsA retrospective study of patients admitted to the pediatric intensive care unit from July 2021 to January 2023. We included patients with cardiac arrest and changes in EEG background with clinical changes and/or neuroimaging consistent with cerebral edema. We excluded patients with electrographic seizures. We applied American Clinical Neurophysiology Society standardized critical care EEG terminology to classify EEG background, noting timing of the change in background classification. Clinical variables included age, sex, and neuroimaging findings and were described with descriptive statistics.ResultsNine patients met inclusion criteria, with median age 24 months (interquartile range 21-49), and 89% were male. There were 5 common EEG stages: stage 1, burst suppression/burst attenuation; stage 2, continuous/discontinuous ± multifocal sporadic epileptiform discharges ± rhythmic or periodic patterns; stage 3, discontinuous/burst suppression/burst attenuation ± rhythmic or periodic patterns; stage 4, gradual voltage suppression; and stage 5, diffuse suppression. The ranges for each stage were as follows: stage 1, 2-10 hours; stage 2, 2.5-15.5 hours; stage 3, 0.5-6.24 hours; and stage 4, 0.5-11 hours. We could not calculate the duration of stage 5 given no uniform time to EEG discontinuation. One patient had a clinical change in stage 3. Remaining patients presented with fixed and dilated pupils with global anoxic injury.ConclusionsEEG stages of cerebral edema have not been described after pediatric cardiac arrest. These stages may be relevant to other patient populations. Early stages may be a therapeutic target for intracranial pressure-lowering medications and/or neuroprotective strategies to minimize sequalae of cerebral edema.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"180-185"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667658","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
Development of a Nomogram and Risk Grouping System for Predicting 1-Year Overall Survival of Patients With Atypical Teratoid/Rhabdoid Tumors. 开发用于预测非典型畸形/横纹肌瘤患者 1 年总生存期的提名图和风险分组系统
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2025-01-27 DOI: 10.1177/08830738241281393
Xu Kang, Yabing Zhou, Fangjie Shen, Jiaqi Feng, Yunkun Wang, Jie Ma, Qiang Qiang, Xiaoqiang Wang
{"title":"Development of a Nomogram and Risk Grouping System for Predicting 1-Year Overall Survival of Patients With Atypical Teratoid/Rhabdoid Tumors.","authors":"Xu Kang, Yabing Zhou, Fangjie Shen, Jiaqi Feng, Yunkun Wang, Jie Ma, Qiang Qiang, Xiaoqiang Wang","doi":"10.1177/08830738241281393","DOIUrl":"10.1177/08830738241281393","url":null,"abstract":"<p><p>PurposeAtypical teratoid/rhabdoid tumor (AT/RT) is a kind of central nervous system malignant tumor in children. In this study, we aimed to develop a practically clinical nomogram and risk grouping system to predict 1-year overall survival for patients with atypical teratoid/rhabdoid tumor.MethodsThe nomogram was constructed based on the pediatric tumor registry of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine. Fifty-four information-integrated patients with atypical teratoid/rhabdoid tumor were included from the database. Cox regression analyses were used to select independent prognostic factors. Based on the fitted multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. Moreover, the nomogram was validated by assessing its discrimination and calibration.ResultsIn these patients, age at diagnosis, the extent of tumor resection, radiotherapy, and chemotherapy were included in the multivariate Cox regression model. Based on this multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. The nomogram had good discrimination (the concordance index was 0.781) and calibration curves showed no deviation from reference lines. Decision curve analysis demonstrated this nomogram was useful for clinical practice. The risk grouping system was built based on nomogram-derived risk scores, which could classify patients into 3 risk groups. Compared with the low-risk group, the risk of 1-year death was significantly higher in the intermediate-risk group (hazard ratio = 1.42, 95%, confidence intervals = 0.49-4.11) and high-risk group (hazard ratio = 9.78, 95% confidence intervals = 3.53-27.1).ConclusionA nomogram and risk grouping system were built to predict for the 1-year overall survival of atypical teratoid/rhabdoid tumor patients. The nomogram could facilitate a personalized prognostic evaluation for atypical teratoid/rhabdoid tumor patients and help medical practitioners make better treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"153-161"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046324","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
Neuroborreliosis Presenting as Urinary Retention: Case Report. 以尿潴留为表现的神经包虫病:病例报告。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-10-23 DOI: 10.1177/08830738241292843
Mário Ribeiro, Sofia Lopes, Helena Silva, Antonio Matos, Marlene Rodrigues
{"title":"Neuroborreliosis Presenting as Urinary Retention: Case Report.","authors":"Mário Ribeiro, Sofia Lopes, Helena Silva, Antonio Matos, Marlene Rodrigues","doi":"10.1177/08830738241292843","DOIUrl":"10.1177/08830738241292843","url":null,"abstract":"<p><p>Lyme disease is a tick-borne infectious disease caused by the spirochete <i>Borrelia burgdorferi</i>. Voiding dysfunction is a rare manifestation of neuroborreliosis with only a few cases reported. Here we describe a case of a 6-year-old male child with an acute urinary retention, paraparesis, and voiding difficulty in whom neuroborreliosis was diagnosed through serologic tests for antibodies, Western blot testing confirmation and intrathecal antibody synthesis. Magnetic resonance imaging (MRI) of the spine led to the diagnosis of acute transverse myelitis and a urodynamic study demonstrated detrusor areflexia. He received a 4-week course of intravenous ceftriaxone (2 g/d). The patient has recovered from the paraparesis but still suffers from a neurogenic bladder.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"223-226"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142501173","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
Disney to Pixar Transition Causing Epilepsy: A Case Report of Reflex Epilepsy. 迪斯尼向皮克斯转型引发癫痫:反射性癫痫病例报告。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-10-29 DOI: 10.1177/08830738241292652
Disha Bhargava, Seth P Devries
{"title":"Disney to Pixar Transition Causing Epilepsy: A Case Report of Reflex Epilepsy.","authors":"Disha Bhargava, Seth P Devries","doi":"10.1177/08830738241292652","DOIUrl":"10.1177/08830738241292652","url":null,"abstract":"<p><p>This case report describes a rare instance of reflex seizures in a 4-year-old boy with a complex medical history, including total anomalous pulmonary venous connection and developmental disabilities. The patient experienced seizures triggered exclusively by a specific visual stimulus: the transition scene from the Disney castle to the Pixar lamp in Disney-Pixar movies. Video electroencephalography (EEG) revealed biparasagittal rhythmic delta waves and diffuse slowing, suggesting parietal involvement and complex cortical processing. The findings highlight the individualized nature of reflex epilepsy and highlight the need for a nuanced understanding of specific seizure triggers. Effective management included avoiding the identified visual stimulus and adjusting medication based on the patient's response. This case emphasizes the intricate relationship between sensory processing and epileptogenic mechanisms, contributing to our knowledge of cortical excitability and guiding targeted treatment strategies for reflex seizures.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"218-222"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522034","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
A Socioecological Framing of the Experiences of Caregivers of Children With Cerebral Palsy in South Africa Post COVID-19. 对 COVID-19 后南非脑瘫儿童护理者经历的社会生态框架分析。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-11-26 DOI: 10.1177/08830738241292844
Skye Adams, Aneesah Moosa, Razina Bhorat
{"title":"A Socioecological Framing of the Experiences of Caregivers of Children With Cerebral Palsy in South Africa Post COVID-19.","authors":"Skye Adams, Aneesah Moosa, Razina Bhorat","doi":"10.1177/08830738241292844","DOIUrl":"10.1177/08830738241292844","url":null,"abstract":"<p><p>BackgroundPost COVID-19, caregivers of children with cerebral palsy in South Africa face unique challenges.MethodsA qualitative exploratory approach was used. Semistructured interviews were conducted with 14 caregivers of children with cerebral palsy in Gauteng, South Africa. Interviews were audio-recorded, transcribed verbatim, and analysed using thematic analysis.ResultsLockdown restrictions have had lasting effects on families' routines and events, reshaping their internal and external functioning. The pandemic introduced new challenges, such as increased physical pain due to the child's weight gain, persistent emotional distress, and a lack of social and governmental support.ConclusionPost COVID-19, it is crucial to develop innovative support mechanisms for children with cerebral palsy and their caregivers, focusing on comprehensive health services, robust social support, and targeted interventions to address the ongoing and new challenges faced by these families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"191-199"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy and Safety of OnabotulinumtoxinA for the Treatment of Pediatric Upper and Lower Limb Spasticity: Results From 2 Open-Label, Long-term Extension Trials. onabotulintoxina治疗小儿上肢和下肢痉挛的疗效和安全性:来自2个开放标签、长期扩展试验的结果
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-12-23 DOI: 10.1177/08830738241288431
Mark Gormley, Darcy Fehlings, Heakyung Kim, Marcin Bonikowski, Marta Banach, Fatma Gul, Jill Meilahn, Brad Racette, Nuoyu Huang, Xiaomeng Niu, Lynn M James, Rozalina Dimitrova
{"title":"Efficacy and Safety of OnabotulinumtoxinA for the Treatment of Pediatric Upper and Lower Limb Spasticity: Results From 2 Open-Label, Long-term Extension Trials.","authors":"Mark Gormley, Darcy Fehlings, Heakyung Kim, Marcin Bonikowski, Marta Banach, Fatma Gul, Jill Meilahn, Brad Racette, Nuoyu Huang, Xiaomeng Niu, Lynn M James, Rozalina Dimitrova","doi":"10.1177/08830738241288431","DOIUrl":"10.1177/08830738241288431","url":null,"abstract":"<p><p>AimTo evaluate the efficacy and safety of onabotulinumtoxinA for treating upper and lower limb spasticity among pediatric patients in 2 open-label extension trials.MethodsPatients aged <18 years received ≤5 doses of onabotulinumtoxinA (maximum: 8 U/kg [300 U], cycle 1; 10 U/kg [340 U], cycles 2-5) over 60 weeks. Week 6 efficacy endpoints included mean change from baseline in Modified Ashworth Scale-Bohannon and Modified Tardieu Scale scores, and mean Clinical Global Impression of Overall Change score. Adverse events and laboratory assessments of bone health were monitored.ResultsA total of 580 patients received onabotulinumtoxinA. Modified Ashworth Scale-Bohannon change from baseline ranged from -1.01 to -1.9. Modified Tardieu Scale change from baseline was 13.6 to 18.1 (ankle), 25.8 to 44.1 (elbow), and -5.0 to -26.3 (wrist). Clinical Global Impression of Overall Change scores were 1.5 to 2.2. The most common treatment-emergent adverse events were upper respiratory tract infection (16.9%) and nasopharyngitis (15.7%).InterpretationRepeat administration of onabotulinumtoxinA was safe and efficacious for treating upper and lower limb spasticity in children.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"168-179"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations Between Testing and Treatment Pathways in a Case of Pediatric Nonlesional Epilepsy: A Census Survey of NAEC Center Directors. 小儿无发作性癫痫病例中检测与治疗途径之间的关联:对 NAEC 中心主任的普查调查。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-10-25 DOI: 10.1177/08830738241288278
Christopher W Beatty, Stephanie M Ahrens, Kristen H Arredondo, Anto I Bagic, Shasha Bai, Kevin E Chapman, Michael A Ciliberto, Dave F Clarke, Mariah Eisner, Nathan B Fountain, Jay R Gavvala, M S Perry, Kyle C Rossi, Lily C Wong-Kisiel, Susan T Herman, Adam P Ostendorf
{"title":"Associations Between Testing and Treatment Pathways in a Case of Pediatric Nonlesional Epilepsy: A Census Survey of NAEC Center Directors.","authors":"Christopher W Beatty, Stephanie M Ahrens, Kristen H Arredondo, Anto I Bagic, Shasha Bai, Kevin E Chapman, Michael A Ciliberto, Dave F Clarke, Mariah Eisner, Nathan B Fountain, Jay R Gavvala, M S Perry, Kyle C Rossi, Lily C Wong-Kisiel, Susan T Herman, Adam P Ostendorf","doi":"10.1177/08830738241288278","DOIUrl":"10.1177/08830738241288278","url":null,"abstract":"<p><p>ObjectiveEpilepsy surgery is vital in managing of children with drug-resistant epilepsy. Noninvasive and invasive testing modalities allow for evaluation and treatment of children with drug-resistant epilepsy. Evidence-based algorithms for this process do not exist. This study examines expert response to a vignette of pediatric nonlesional epilepsy to assess associations in evaluation and treatment choices.MethodsWe analyzed annual report data and an epilepsy practice survey reported in 2020 from 135 pediatric epilepsy center directors in the United States. Characteristics of centers along with noninvasive and invasive testing and surgical treatment strategies were collected. Multivariable logistic regression modeling was performed.ResultsThe response rate was 100% with 135 responses included in the analyses. Most used noninvasive testing modalities included Neuropsychology evaluation (90%), interictal brain fluorodeoxyglucose-positron emission tomography (85%), and functional magnetic resonance imaging (MRI) (72%) with nearly half obtaining genetic testing. Choosing functional MRI was associated with stereo electroencephalography (EEG) (<i>P</i> = .025) and selecting Wada with subdural grid/strips (<i>P</i> = .038). Directors from pediatric-only centers were more likely to choose stereo EEG as opposed to combined centers (<i>P</i> = .042). Laser interstitial thermal therapy was almost 7 times as likely to be chosen as a treatment modality compared with open resection in dedicated pediatric centers (OR 6.96, <i>P</i> = .002).SignificanceIn a vignette of nonlesional childhood drug-resistant epilepsy, epilepsy center directors' patterns of noninvasive testing, invasive testing, and treatment were examined. Management choices were associated with pediatric versus combined pediatric/adult center characteristics. Expert opinions demonstrated equipoise in evaluation and management of children with drug-resistant epilepsy and the need for evidence-based management strategies.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"162-167"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142501172","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
Assessing the Need for Repeat EEG in Pediatric Patients with Idiopathic Generalized Epilepsy After Anti-Seizure Medication Withdrawal Following Seizure Freedom. 评估儿童特发性广泛性癫痫患者癫痫发作自由后停药后重复脑电图的必要性。
IF 2 4区 医学
Journal of Child Neurology Pub Date : 2025-03-01 Epub Date: 2024-12-10 DOI: 10.1177/08830738241292836
Sita Paudel, Madison Heebner, Gayatra Mainali, Jaclyn S Tencer, Rhea Kanwar, Katherine Martel, Ashutosh Kumar, Sunil C Naik, Sandeep Pradhan, Prakash Kandel, Douglas Leslie
{"title":"Assessing the Need for Repeat EEG in Pediatric Patients with Idiopathic Generalized Epilepsy After Anti-Seizure Medication Withdrawal Following Seizure Freedom.","authors":"Sita Paudel, Madison Heebner, Gayatra Mainali, Jaclyn S Tencer, Rhea Kanwar, Katherine Martel, Ashutosh Kumar, Sunil C Naik, Sandeep Pradhan, Prakash Kandel, Douglas Leslie","doi":"10.1177/08830738241292836","DOIUrl":"10.1177/08830738241292836","url":null,"abstract":"<p><p>BackgroundMost patients with idiopathic generalized epilepsy have good seizure control on antiseizure medications. Although idiopathic generalized epilepsy subtypes such as juvenile absence epilepsy and juvenile myoclonic epilepsy have a high risk of relapse, childhood absence epilepsy may have seizure remission. After 2 years of seizure freedom in childhood absence epilepsy, typically antiseizure medications are discontinued, but follow-up protocols are unclear. This study aims to evaluate how often patients with idiopathic generalized epilepsy undergo electroencephalography (EEG) after antiseizure medication withdrawal, how often antiseizure medications are restarted based on EEG findings, and if this varies between physicians and advanced practice providers at our institution.MethodsThis was a retrospective chart review. Data were collected using electronic medical records of pediatric patients (<18 years) with idiopathic generalized epilepsy who were successfully weaned off antiseizure medications at Penn State Children's Hospital from 2010 to 2020.ResultsWe reviewed 1409 charts and found 52 patients meeting criteria. Seventeen of 52 patients (32%) had a repeat EEG within 6 months of antiseizure medication withdrawal following seizure freedom. Of those 17 patients, 3 (17.6%) had generalized epileptiform discharges on EEG. Of these 3 patients, 2 (66%) were restarted on antiseizure medications based on the abnormal EEG. None had seizure relapse.ConclusionObtaining a repeat EEG in patients after antiseizure medication withdrawal following seizure freedom is common. Patients with an abnormal EEG are often restarted on antiseizure medications, irrespective of clinical seizure relapse. Considering the high health care costs of EEGs and antiseizure medication side effects, we propose that if patients with idiopathic generalized epilepsy do well clinically following antiseizure medication withdrawal, EEGs may not be necessary.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"200-207"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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