Pediatric neurology最新文献

{"title":"Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations","authors":"Eva Gutiérrez-Delicado MD, PhD ,&nbsp;Marta García-Fernández MD ,&nbsp;Nelmar Valentina Ortiz Cabrera MD, PhD ,&nbsp;Víctor Soto Insuga MD, PhD ,&nbsp;María Justel Rodríguez MD ,&nbsp;Anna Duat-Rodríguez MD, PhD ,&nbsp;Anne G. Caicoya MD, PhD ,&nbsp;Juan Álvarez-Linera Prado MD, PhD ,&nbsp;Inés Solís Muñiz MD ,&nbsp;María Ángeles Pérez-Jiménez MD, PhD","doi":"10.1016/j.pediatrneurol.2024.11.003","DOIUrl":"10.1016/j.pediatrneurol.2024.11.003","url":null,"abstract":"<div><h3>Background</h3><div>Pathogenic variants in <em>DYNC1H1</em>, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes.</div></div><div><h3>Methods</h3><div>We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene.</div></div><div><h3>Results</h3><div>A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided.</div></div><div><h3>Conclusions</h3><div>Two phenotypes have been identified: 1) three patients presented with developmental and epileptic encephalopathy with focal seizures and epileptic spasms, along with a complex malformation of cortical development within the lissencephaly spectrum, and 2) the fourth patient exhibited developmental and epileptic encephalopathy with spike-and-wave activation in sleep along with bifrontal polymicrogyria. Notably, this is the first reported case of polymicrogyria and epileptic encephalopathy with spike-and-wave activation in sleep with evidence of an underlying genetic disorder.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 7-11"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Palliative Care Education in Child Neurology Residency: A National Needs Assessment","authors":"Grant L. Lin MD, PhD ,&nbsp;Kayla A. Staub MD ,&nbsp;Vanessa P. Nguyen DO ,&nbsp;Hitoshi G. Koshiya MD ,&nbsp;Cynthia J. Campen MD, MS ,&nbsp;Talia C. Shear MD","doi":"10.1016/j.pediatrneurol.2025.01.019","DOIUrl":"10.1016/j.pediatrneurol.2025.01.019","url":null,"abstract":"<div><h3>Background</h3><div>Child neurologists require primary palliative care (PC) skills to care for patients with high symptom burdens and variable prognoses. The existing scope of PC education in child neurology training is unclear. We conducted a national survey-based needs assessment of pediatric PC education in child neurology residencies in the United States.</div></div><div><h3>Methods</h3><div>Resident and program surveys were developed and distributed via direct recruitment of program directors/coordinators and the Child Neurology Society Connect platform. Surveys were analyzed using descriptive statistics and exploratory posthoc comparisons in specific comparison groups.</div></div><div><h3>Results</h3><div>Seventy-nine residents and 18 programs completed the survey. Respondents represented all US census regions and neurology training years. Curricular and clinical exposure to six core pediatric PC topics varied: 17 (22%) residents participated in a PC rotation, three programs (17%) require a PC rotation, and 13 programs (72%) offer a PC elective. Increasing postgraduate year (PGY) level and PC elective experience were associated with increased confidence in elements of serious illness communication, and increasing PGY level was also associated with increased confidence in elements of neuroprognostication and palliative symptom management. Both residents and programs reported a desire and motivation for additional pediatric PC education.</div></div><div><h3>Conclusions</h3><div>Current child neurology residents reported increased confidence over PGY level across three of six pediatric PC domains. Still, respondents reported desire and motivation for additional training. Our results highlight that although some primary PC skills are developed in child neurology residencies, there is a need for more formalized and enhanced pediatric PC education.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 60-67"},"PeriodicalIF":3.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Barriers to Recruitment in an Acute Neonatal Seizure Drug Trial: Lessons From a Randomized, Double-Blind, Controlled Study of Intravenous Phenobarbital","authors":"Shani Israel BS ,&nbsp;Courtney Lowe BA ,&nbsp;Zahr Alkhadem MD ,&nbsp;Emmeline Roth BS ,&nbsp;Lindsay Ruffini CPNP-AC/PC ,&nbsp;Tammy Tsuchida MD, PhD ,&nbsp;Tayyba Anwar MD","doi":"10.1016/j.pediatrneurol.2025.01.020","DOIUrl":"10.1016/j.pediatrneurol.2025.01.020","url":null,"abstract":"<div><h3><em>Background</em></h3><div>Despite the prevalence of seizures among neonates, neonatal seizure drug trials are rarely conducted due to ethical considerations, difficulties in trial design, and limited hospital resources and personnel. The purpose of this prospective consecutive case series is to highlight the experiences and challenges encountered by a single study site in participant recruitment for an acute neonatal seizure treatment trial that was active between January 24, 2022, and February 1, 2023.</div></div><div><h3><em>Methods</em></h3><div>Outcomes include information about each screened patient's trial recruitment process, namely, the patient's time of admission, eligibility status, reasons why potentially eligible patients were not approached, reasons consent was declined, and seizure outcomes.</div></div><div><h3><em>Results</em></h3><div>The study team screened 164 of 191 (86%) patients transferred to the Children's National Hospital neonatal intensive care unit for continuous electroencephalography. Of the 164 patients screened, 71 (43%) were ineligible for the study, and consent was not attempted on an additional 69 (42%) patients. A total of 24 patients were approached for consent, and 12 (50%) declined. Only two (17%) patients were treated with the study drug, as the remaining 10 (83%) enrolled patients failed the screening. Sixteen of the unscreened or nonconsenting patients went on to have seizures within the study period and would have been eligible to receive the study drug if enrolled.</div></div><div><h3><em>Conclusions</em></h3><div>Poor recruitment in acute neonatal seizure treatment trials may be improved by addressing issues in the consent process, personnel and resource allocation, and parent suspicion about clinical trials.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 74-77"},"PeriodicalIF":3.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes","authors":"Semra Gürsoy MD ,&nbsp;Ceren Yılmaz Uzman MD ,&nbsp;Kadri Murat Erdoğan MD ,&nbsp;Pakize Karaoğlu MD ,&nbsp;Tuba Sözen Türk MD ,&nbsp;Ünsal Yılmaz MD ,&nbsp;Aycan Ünalp MD ,&nbsp;Filiz Hazan MD","doi":"10.1016/j.pediatrneurol.2025.01.016","DOIUrl":"10.1016/j.pediatrneurol.2025.01.016","url":null,"abstract":"<div><h3>Background</h3><div>X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. In this study, we aimed to describe the clinical and molecular spectrum of patients with XLID. We also evaluated the clinical efficacy of a targeted gene panel in patients with suspected XLID.</div></div><div><h3>Methods</h3><div>Eighty-four patients with suspected XLID were enrolled in the study. Array comparative genomic hybridization, fragile X fragman analysis, and targeted XLID gene panel were performed.</div></div><div><h3>Results</h3><div>Genetic diagnosis was established in a total of 24 patients (22 male and two female) with XLID. Different copy number variations of the X chromosome were detected in four patients, including two duplications and two deletions. Fifteen patients had fragile X syndrome. Point mutations were detected in five unrelated patients. Variants detected in <em>RPS6KA3</em> gene were previously reported by our team. A novel two-nucleotide deletion was shown in the <em>MID1</em> gene. Additionally, novel missense variations were revealed in <em>IL1RAPL1</em> and <em>ATRX</em> genes. The <em>IL1RAPL1</em> variant was detected in additional five affected male patients in the same family. The patient, who had <em>ATRX</em> variation, had pachygyria in the cerebral cortex and hypoplasia of cerebellar vermis.</div></div><div><h3>Conclusions</h3><div>Our findings have broadened the spectrum of mutations and clinical manifestations of patients with XLID. Additionally, this represents the second reported missense variation in the <em>IL1RAPL1</em> gene identified in patients with XLID. We also emphasized the importance of a stepwise diagnostic algorithm that incorporates chromosomal microarray analysis, <em>FMR1</em> gene repeat analysis, and next-generation sequencing analysis for patients with XLID.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 43-51"},"PeriodicalIF":3.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Provider Perspectives of Barriers to Delivering Care for Pediatric Functional Neurological Disorder: A Thematic Analysis","authors":"Jeannette M. Iskander PhD ,&nbsp;Jason Kreuzman OTR/L ,&nbsp;Meagan Watson MPH, MBA ,&nbsp;Gayle Chesley PhD ,&nbsp;Karen Zeribi MHS ,&nbsp;Amanda Hopper MLS ,&nbsp;Tamara Powell PhD ,&nbsp;Laura Simon MD ,&nbsp;Aaron D. Fobian PhD","doi":"10.1016/j.pediatrneurol.2025.01.011","DOIUrl":"10.1016/j.pediatrneurol.2025.01.011","url":null,"abstract":"<div><h3>Background</h3><div>Functional neurological disorder (FND) is a multinetwork brain disorder existing at the intersection of neurology and psychiatry. FND often takes significant time to receive diagnosis and treatment. Given these delays, the purpose of the present study was to identify barriers to FND care from the provider perspective.</div></div><div><h3>Methods</h3><div>The Functional Neurological Disorder Society Pediatric Special Interest Group asked pediatric FND providers to specify barriers to FND treatment in their center in the United States. Two authors conducted thematic analyses to extract themes between respondents’ qualitative responses.</div></div><div><h3>Results</h3><div>Our analysis found that the US health care system is not adequately designed to provide timely and sufficient treatment for pediatric FND. Four subthemes emerged. First, providers identified limited access to health care professionals (HCPs) with specialized expertise in pediatric FND. The second delineated the lack of HCP education and competence in FND. Third, providers indicated the challenge of coordinating care and establishing bidirectional communication with their colleagues. Finally, providers identified financial support, including insurance coverage, as a barrier.</div></div><div><h3>Conclusions</h3><div>The present study highlights barriers to care for pediatric patients with FND from the provider perspective in the United States. These barriers existed regardless of geography, treatment type, discipline, or specialty highlighting opportunities to intervene. By improving provider education, general practitioners may gain increased confidence in quickly delivering an FND diagnosis; this could also allow additional providers to become experts in treating FND, thus decreasing delays to initiating care. Additionally, advocacy for increased insurance coverage may also help to eliminate treatment-related disparities for pediatric FND.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 68-73"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients","authors":"Jordan J. Cole MD ,&nbsp;Angela D. Sellitto MS ,&nbsp;Laura Rosa Baratta BS ,&nbsp;Julia B. Huecker MS ,&nbsp;Joyce (Joy) E. Balls-Berry PhD, MPE ,&nbsp;Christina A. Gurnett MD, PhD","doi":"10.1016/j.pediatrneurol.2025.01.018","DOIUrl":"10.1016/j.pediatrneurol.2025.01.018","url":null,"abstract":"<div><h3>Background</h3><div>To investigate clinical, social, and systems-level determinants predictive of genetics clinic referral and completion of genetics clinic visits among pediatric neurology patients.</div></div><div><h3>Methods</h3><div>Electronic health record (EHR) data were extracted from pediatric patients (0-18 years) evaluated in pediatric neurology clinics at a single tertiary care institution between July 2018 and January 2020. Referral and referral completion rates to genetics clinics were compared among non-Hispanic single- or multiracial Black (Black) versus non-Hispanic White (White) patients using bivariablee analysis. Other ethnoracial identities were excluded due to small numbers. Variables associated with genetics clinic referral and visit completion were identified using logistic regressions.</div></div><div><h3>Results</h3><div>In a cohort of 11,371 pediatric neurology patients, 304 were referred to genetics clinic and 229 (75.3%) completed genetics clinic visits. In multivariable analyses of Black and White patients (n = 10,601), genetics clinic referral rates did not differ by ethnoracial identity but were associated with younger age, rurality, neurodevelopmental disorder diagnosis, number of neurology clinic visits, and provider type. Genetics clinic visit completion rates were associated with number of neurology clinic visits and ethnoracial identity, with White patients twice as likely as Black patients to complete the visit (adjusted odds ratio=2.18; 95% confidence interval 1.06-4.48).</div></div><div><h3>Conclusions</h3><div>Although no disparity in genetics clinic referral rates was identified, White patients were twice as likely as Black patients to complete a genetics clinic visit after referral. Further work is needed to determine whether this is due to systemic/structural racism, differences in attitudes toward genetics, or other factors.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 78-86"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Folic Acid Prescribing and Reproductive Counseling Practices of Child Neurologists for Women With Epilepsy","authors":"Mariah Ozkir MD,&nbsp;Derryl Miller MD","doi":"10.1016/j.pediatrneurol.2025.01.015","DOIUrl":"10.1016/j.pediatrneurol.2025.01.015","url":null,"abstract":"<div><h3>Background</h3><div>Women with epilepsy (WWE) experience stigma related to reproductive health. Pediatric neurologists are often uncomfortable providing age-appropriate reproductive health counseling (RHC) and prescribing folic acid (FA). We studied RHC and FA prescribing practices for child neurologists and provide a literature review for FA dosing maximizing benefit for WWE and their children.</div></div><div><h3>Methods</h3><div>We performed a retrospective cross-sectional study of RHC and FA prescribing by child neurologists at our center for 227 consecutive WWE from January to June 2022. We studied patient age, teratogenic risk of antiseizure medications (ASMs), number of ASMs, presence/absence of intellectual disability (ID), and physician board certification. ASM teratogenic risk was determined utilizing the North American Antiepileptic Drug Pregnancy Registry (NAADPR) database with ≥2.5% threshold of major malformation for high risk, &lt;2.5% for low risk, and no NAADPR data for unknown risk.</div></div><div><h3>Results</h3><div>Pediatric neurologists inconsistently prescribe FA (11%) and document RHC (10%). WWE on valproic acid receive FA more often (31% vs 9.6%, <em>P</em> = 0.004, χ² = 8.28) but similar RHC to WWE on other ASMs (<em>P</em> = 0.080, χ² = 3.06). Epileptologists do not prescribe FA more than general neurologists (<em>P</em> = 0.65, χ² = 0.19), and general neurologists document RHC more often (18% vs 4%, <em>P</em> = 0.00047, χ² = 4.21). WWE aged 16-18 years receive RHC more than WWE aged 12-15 years (12.7% vs 10.5%, <em>P</em> = 0.025, χ² = 4.96) with no difference in FA prescriptions (<em>P</em> = 0.60, χ² = 0.27). Patients with ID receive FA less often (6% vs 15%, <em>P</em> = 0.035, χ² = 4.44) with no difference in RHC (<em>P</em> = 0.29, χ² = 1.09).</div></div><div><h3>Conclusions</h3><div>We quantify a significant gap in care for WWE to facilitate quality improvement initiatives. Preconceptional FA 1 mg orally daily seems appropriate for WWE with present knowledge.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 52-55"},"PeriodicalIF":3.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serendipity Can Rule the Day: Remarkable Efficacy of a Mushroom Extract Powder in Childhood Treatment-Resistant Epilepsy","authors":"Olivia Kim-McManus MD ,&nbsp;Sarah Boylan ,&nbsp;Mark Nespeca MD","doi":"10.1016/j.pediatrneurol.2025.01.017","DOIUrl":"10.1016/j.pediatrneurol.2025.01.017","url":null,"abstract":"<div><div><em>Introduction:</em> The goal of this report is to highlight an unanticipated effect of medicinal mushroom supplement in reducing seizures in a child.</div></div><div><h3>Methods</h3><div>A detailed case report and literature review.</div></div><div><h3>Results</h3><div>Medicinal mushroom extract supplementation resulted in a sustained 98% reduction in seizure frequency three years after initiation.</div></div><div><h3>Discussion</h3><div>This case report provides details of the child's case and reviews the limited literature related to medicinal mushroom therapy for epilepsy with the intent to stimulate interest in more detailed study of medicinal mushroom compounds for the treatment of treatment-resistant epilepsy.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 56-59"},"PeriodicalIF":3.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Features and Prognostic Factors of Pediatric Guillain-Barré Syndrome With Anti-Sulfatide Antibody","authors":"La-Mei Chen MM ,&nbsp;Juan Wang MD ,&nbsp;Xiao-Ling Peng DSc ,&nbsp;Ming-Xuan Fan MSc ,&nbsp;Hai-Lun Peng MM ,&nbsp;Yue Hu MD","doi":"10.1016/j.pediatrneurol.2025.01.013","DOIUrl":"10.1016/j.pediatrneurol.2025.01.013","url":null,"abstract":"<div><h3>Background</h3><div>The study analyzed the clinical features and risk factors for poor prognosis in children with Guillain-Barré syndrome (GBS) spectrum disorders positive for anti-sulfatide antibodies.</div></div><div><h3>Methods</h3><div>Clinical and follow-up data of 43 children diagnosed with GBS spectrum disorders positive for serum and/or cerebrospinal fluid anti-sulfatide antibodies and treated at the Children's Hospital of Chongqing Medical University between July 2018 and April 2023 were analyzed. A 1:1 matching was performed for a comparative analysis of clinical features.</div></div><div><h3>Results</h3><div>Respiratory tract prodromal infection was common in the positive anti-sulfatide antibody group (53.4%, 23 of 43). The main presenting symptoms were limb weakness (67.4%, 29 of 43), pain (67.4%, 29 of 43), ataxia (32.5%, 14 of 43), and cranial nerve involvement (62.8%, 27 of 43). The clinical classification was predominantly classical GBS (76.7%, 33 of 43), with a high prevalence of acute inflammatory demyelinating polyneuropathy (41.2%, 20 of 33). Brainstem and medulla lesions were the main cranial magnetic resonance imaging (MRI) findings (16.7%, six of 36), and spinal cord MRI (32.5%, 14 of 34) showed cauda equina or partial nerve root enhancement. The following features showed a significant difference in prevalence between the anti-sulfatide-antibody-positive and -negative groups: gender, cranial nerve involvement, nerve root tension sign, abnormal brain MRI, GBS disability score (GBS-DS) at discharge, difference in GBS-DS between admission and discharge, and GBS-DS at one-month follow-up. Shorter time to peak was identified as an independent risk factor for poor short-term prognosis in GBS spectrum disorders with positive anti-sulfatide antibodies.</div></div><div><h3>Conclusions</h3><div>GBS spectrum disorders with positive anti-sulfatide antibodies have a relatively specific clinical phenotype. Shorter time to peak was an independent risk factor for poor prognosis.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 31-39"},"PeriodicalIF":3.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges in Management of Febrile Infection-Related Epilepsy Syndrome: Real-World Experience From a Large Cohort of Pediatric Patients","authors":"Ramya Bandi MD ,&nbsp;Vivek Jain MD ,&nbsp;Lokesh Lingappa DM ,&nbsp;Ravi Sharma MD ,&nbsp;Sudheeran Kannoth DM ,&nbsp;Ramesh Konanki DM","doi":"10.1016/j.pediatrneurol.2025.01.014","DOIUrl":"10.1016/j.pediatrneurol.2025.01.014","url":null,"abstract":"<div><h3>Background</h3><div>Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic neuroinflammatory disorder with refractory status epilepticus. The disease management continues to pose significant challenges.</div></div><div><h3>Methods</h3><div>A retrospective observational study of patients with FIRES managed at tertiary care centers in India. The follow-up outcome was assessed using the Clinical Assessment Scale in Autoimmune Encephalitis (CASE).</div></div><div><h3>Results</h3><div>Forty-one children (27 males) were eligible. The mean presentation age was 7.2 years (range, 2-14). A median of 7 (range, 2-12) antiseizure medications (ASMs) were tried before pharmacologic coma, which was subsequently required in all patients. The pharmacologic coma was induced for a median duration of 11 days (range, 1-125), with midazolam (41) being the most common medication, followed by ketamine (33), thiopentone (18), and isoflurane (13). Only a minority had seizure resolution on pharmacologic coma (ketamine 21%, midazolam 17%, and thiopentone 16.6%). Ninety-seven percent children also concurrently received methylprednisolone (40), 63% intravenous immunoglobulin (26), 32% rituximab (13), 32% cyclophosphamide (13), and 56% ketogenic diet (23). At a median follow-up of 37 months (range, 9-96), 34% (14) children had died. Of the remaining 27, epilepsy was poorly controlled in the majority (18 children, 67%). Also, 14 patients had a CASE score of ≤5 (<em>good outcome</em>) and 13 had a score of &gt;5 (<em>poor outcome</em>). In both groups, there was no statistically significant difference in outcomes with the ketogenic diet, pharmacologic coma, or immunomodulatory therapies.</div></div><div><h3>Conclusions</h3><div>The management of FIRES in children is challenging, with limited effectiveness of most currently practiced anesthetic agents and conventional immunomodulatory therapies in seizure control and in altering the outcome in FIRES.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 9-15"},"PeriodicalIF":3.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143137860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}