Pediatric neurology最新文献

{"title":"Congenital Bilateral Perisylvian Syndrome: A Rare Case","authors":"Tracy Tushabe Namata MBChB ,&nbsp;Max Crescent Tumusiime MBChB, MMED (Radiology) ,&nbsp;Josephine Nabaweesi BSN ,&nbsp;Robert Sebunya MBChB, MMED (Peadiatrics), Cert Paediatric Neuro (SA), MPhil Neuro (UCT)","doi":"10.1016/j.pediatrneurol.2024.12.003","DOIUrl":"10.1016/j.pediatrneurol.2024.12.003","url":null,"abstract":"<div><div>Congenital bilateral perisylvian syndrome (CBPS) is a rare neuronal migration disorder of cortical development characterized by polymicrogyria on magnetic resonance imaging. Features include pseudobulbar palsy, language and speech difficulties, epilepsy, and cognitive deficits. We discuss the management of the case of a five-year-old male with classical features of CBPS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 82-84"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896380","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":"Quantitative Electroencephalography Alpha:Delta Ratio and Suppression Ratio Monitoring During Infant Aortic Arch Reconstruction","authors":"Justin Lansinger MD ,&nbsp;Michael F. Swartz PhD ,&nbsp;Emelie-Jo Scheffler BS ,&nbsp;Aubrey Duncan MD ,&nbsp;Jill M. Cholette MD ,&nbsp;Shuichi Yoshitake MD ,&nbsp;Hugo S. Clifford MD ,&nbsp;Hongyue Wang PhD ,&nbsp;George M. Alfieris MD","doi":"10.1016/j.pediatrneurol.2024.12.002","DOIUrl":"10.1016/j.pediatrneurol.2024.12.002","url":null,"abstract":"<div><h3>Background</h3><div>During infant aortic arch reconstruction, traditional electroencephalography (EEG) provides only qualitative data limiting neuromonitoring efficacy. Interhemispheric differences in the alpha:delta ratio (ADR) and suppression ratio (SR) measured using quantitative EEG generate numerical trends that may suggest cerebral ischemia. We hypothesized that the ADR and SR during cardiopulmonary bypass (CPB) would correlate with hemodynamics, and that ADR and SR interhemispheric differences would precede neurological injury from infants requiring aortic arch reconstruction.</div></div><div><h3>Methods</h3><div>During aortic arch reconstruction, bilateral hemispheric ADRs and SRs were recorded every five minutes in conjunction with mean arterial pressure, temperature, CPB flow, and cerebral oximetry. Data were grouped into the cooling, antegrade cerebral perfusion (ACP), and rewarming periods of CPB. Correlation analysis determined relationships between the ADR, SR, and hemodynamic data. The cumulative interhemispheric ADR and SR differences were calculated during CPB. Neurological injury was defined as clinical/subclinical seizure or stroke.</div></div><div><h3>Results</h3><div>Among 79 infants, the ADRs decreased significantly during rewarming, whereas SRs were significantly greatest during ACP. There was a direct correlation between the ADR and cerebral oximetry (R² = 0.734; <em>P</em> &lt; 0.001) and an inverse correlation between the SR and temperature (R² = 0.882; <em>P</em> &lt; 0.001). Eight infants developed neurological injury that was more often preceded by an interhemispheric ADR difference &gt;0.1 (50% vs 7.8%; <em>P</em> = 0.01) or SR difference &gt;18% (41.7% vs 4.8%; <em>P</em> = 0.008).</div></div><div><h3>Conclusions</h3><div>The ADR and SR correlate with cerebral oximetry and temperature, respectively, and significant interhemispheric differences often preceded neurological injury, suggesting the importance of quantitative EEG monitoring during infant aortic arch reconstruction.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 96-103"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927741","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 Value of Diffusion Tensor Imaging in Differential Diagnosis of Embryonal Tumors Occurring in the Brainstem and Brainstem Gliomas in Pediatric Patients","authors":"Wenjiao Xiao MMed ,&nbsp;Shuang Li MMed ,&nbsp;Zanyong Tong MMed ,&nbsp;Lusheng Li MD ,&nbsp;Yuting Zhang MD","doi":"10.1016/j.pediatrneurol.2024.11.011","DOIUrl":"10.1016/j.pediatrneurol.2024.11.011","url":null,"abstract":"<div><h3>Background</h3><div>There are no apparent distinctions in clinical presentation or conventional imaging findings between brainstem gliomas and embryonal tumors occurring in the brainstem. Our aim was to study the role of diffusion tensor imaging in differentiating embryonal tumors from gliomas of the brainstem.</div></div><div><h3>Methods</h3><div>Three cases of embryonal tumors occurring in the brainstem and 19 cases of brainstem gliomas were analyzed retrospectively.</div></div><div><h3>Result</h3><div>The most common brainstem gliomas are diffuse intrinsic pontine gliomas. On the fiber tracking images, brainstem gliomas were associated with relatively intact projection fibers that continuously traversed the tumor and followed the trajectory of normal neural fibers, whereas embryonal tumors were associated with disruption of projection fibers. The close cellularity created tissues with significant directional properties in embryonal tumors, restricting the diffusion of water molecules. As a result, there were areas of high anisotropy within the embryonal tumors. Additionally, we observed that the apparent diffusion coefficient value of embryonal tumors occurring in the brainstem was lower than that of brainstem gliomas and the difference was statistically significant (<em>P</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>Disruption of projection fibers within the tumor on diffusion tensor imaging may help differentiate embryonal pathology from glial.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 58-65"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847145","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":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(25)00007-4","DOIUrl":"10.1016/S0887-8994(25)00007-4","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143146659","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":"Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes","authors":"Andrea Bauchat DO ,&nbsp;Andre Stokhuyzen MSN, CPNP-AC ,&nbsp;Timothy A. Driscoll MD ,&nbsp;Paul L. Martin MD, PhD ,&nbsp;Joanne Kurtzberg MD ,&nbsp;Kris M. Mahadeo MD, MPH ,&nbsp;Vinod K. Prasad MD, MBBS","doi":"10.1016/j.pediatrneurol.2024.11.004","DOIUrl":"10.1016/j.pediatrneurol.2024.11.004","url":null,"abstract":"<div><h3>Background</h3><div>Hematopoietic cell transplantation (HCT) is the standard of care treatment for children with Hurler syndrome (HS). This study describes the impact of newborn screening (NBS) on HCT outcomes for these patients.</div></div><div><h3>Methods</h3><div>Retrospective study of HS patients diagnosed through NBS and referred to Duke from 2017 to 2023. Patients received a myeloablative busulfan-based regimen and unrelated umbilical cord blood HCT, with cyclosporine and mycophenolate for graft-versus-host-disease prophylaxis.</div></div><div><h3>Results</h3><div>Patients (N =9) were transplanted at a median age of 5.2 months and median weight of 7.8 kg. Median reinfused total nucleated cell was 14.8 × 10⁷/kg. The median times to neutrophil and platelet engraftment were 17 and 48 days, respectively. No primary graft failures or rejections were observed. Post-HCT complications included sinusoidal obstructive syndrome, microangiopathy and autoimmune hemolytic anemia. At median follow-up of 29.1 months (range 4.1-72.2), 8 of 9 patients were alive with normal alpha-L-iduronidase (IDUA) levels, Lansky scores of 90-100%, and developing milestones. One patient died due to autoimmune hemolytic anemia on day +139 (with normal IDUA level and &gt;98% donor chimerism at day +100).</div></div><div><h3>Conclusions</h3><div>Early umbilical cord blood transplant during infancy of HS patients diagnosed through NBS is safe, feasible, and corrects IDUA enzyme deficiency. Follow-up studies will ascertain the long-term benefits of this approach.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 21-26"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791805","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":"Communication About Sudden Unexpected Death in Epilepsy: An Adaptation of the SPIKES Protocol","authors":"Kayli Maney MD ,&nbsp;Isabella K. Pallotto MPH ,&nbsp;Simran Bansal BS ,&nbsp;Shital Patel MD ,&nbsp;Renée A. Shellhaas MD, MS ,&nbsp;Zachary M. Grinspan MD, MS ,&nbsp;Jeffrey Buchhalter MD, PhD ,&nbsp;Elizabeth J. Donner MD, MSc ,&nbsp;Gardiner Lapham MPH, RN ,&nbsp;Thomas Stanton MPP ,&nbsp;Monica E. Lemmon MD","doi":"10.1016/j.pediatrneurol.2024.10.004","DOIUrl":"10.1016/j.pediatrneurol.2024.10.004","url":null,"abstract":"<div><h3>Background</h3><div>Sudden unexpected death in epilepsy (SUDEP) is a common cause of premature death in children and adults with epilepsy. People with epilepsy and their caregivers prefer the risk of SUDEP to be disclosed by their clinicians; however, few tools exist to support these conversations.</div></div><div><h3>Methods</h3><div>We aimed to (1) characterize SUDEP communication preferences of clinicians and caregivers of children with epilepsy, and (2) leverage these preferences to develop a conversation guide to support the discussion of SUDEP risk. We prospectively enrolled caregivers of children with epilepsy, child neurology clinicians, and child neurology trainees to participate in virtual focus groups and/or 1:1 interviews.</div></div><div><h3>Results</h3><div>Content was analyzed and collated into the following four domains: (1) <em>who should participate</em>: all participants described that the treating neurologist and/or epileptologist should lead conversations with patients and families. Caregivers preferred that clinicians disclose information about SUDEP to children only after asking permission. (2) <em>When and where conversations should occur</em>: most participants felt that the conversation should be discussed at the time of diagnosis and in the outpatient setting, (3) <em>content to include about SUDEP risk</em>: participants characterized the need to define SUDEP, what is known and unknown, as well as describe risk factors to reduce an individual child's risk, and (4) <em>barriers and facilitators to disclosure</em>: barriers included lack of time, limited evidence-based information regarding risk mitigation, lack of modifiable risk factors, and apprehension of causing undue stress on families. Participants shared that written material would help facilitate the discussion.</div></div><div><h3>Conclusions</h3><div>Caregivers and clinicians emphasized the value of SUDEP risk counseling in the pediatric clinical setting. Based on these findings, neurologists caring for children with epilepsy should educate caregivers about SUDEP soon after the initial epilepsy diagnosis in an empathetic manner, revisiting the conversation longitudinally over time and highlighting actionable steps to mitigate risk. Caregiver and clinician preferences informed our novel adaptation of the SPIKES protocol for use by pediatric neurologists in the context of SUDEP risk disclosure.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 50-57"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847142","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":"Utilization of Automated Computed Tomography Perfusion in the Pediatric and Young Adult Population: A Nationwide Cohort","authors":"Ronda Lun MD, MSc ,&nbsp;Anirudh Sreekrishnan MD ,&nbsp;Sarah Lee MD ,&nbsp;Gregory W. Albers MD","doi":"10.1016/j.pediatrneurol.2024.11.007","DOIUrl":"10.1016/j.pediatrneurol.2024.11.007","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 66-67"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872779","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":"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}