Pediatric neurology最新文献

{"title":"Mammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment","authors":"Lena-Luise Becker MD ,&nbsp;Karen Agricola MS, FNP ,&nbsp;David M. Ritter MD, PhD ,&nbsp;Darcy A. Krueger MD, PhD ,&nbsp;David Neal Franz MD","doi":"10.1016/j.pediatrneurol.2024.08.009","DOIUrl":"10.1016/j.pediatrneurol.2024.08.009","url":null,"abstract":"<div><h3>Background</h3><p>Everolimus therapy has been approved in Tuberous Sclerosis Complex (TSC), for drug-resistant epilepsy as adjunctive therapy. A novel anti-seizure medication is cenobamate, which was approved for adults as adjunctive treatment for focal-onset seizures in drug-resistant epilepsy and is now commonly used in patients with TSC. Drug-drug interactions between cenobamate and mammalian target of rapamycin (mTORi) have not been prospectively evaluated, even though these agents are frequently administered together.</p></div><div><h3>Methods</h3><p>We performed a retrospective analysis of patients with TSC and compared mTORi drug levels before and after treatment initiation with cenobamate.</p></div><div><h3>Results</h3><p>We evaluated 20 patients with clinically diagnosed TSC (male: 55%, female: 45%) with a median current age at last visit of 17.0 years (range: 4-41 years, interquartile range [IQR]: 12.5 years). All patients received mTORi treatment of either everolimus (N = 12, 60%) or sirolimus (N = 8, 40%). Cenobamate treatment led to seizure freedom in 2 patients (10%), reduction of seizures in 9 patients (45%) and no change in seizure frequency in 9 patients (45%). Median maximal cenobamate dose was 200 mg (range: 100-500 mg, IQR: 262.5 mg), for example, 3.2 mg/kg/day (range: 0.8-9.5 mg/kg/day, IQR: 3.2 mg/kg/day). Median everolimus levels decreased significantly after cenobamate initiation from 5.1 ng/ml (range: 1.9-11.6 ng/ml, IQR: 3.8 ng/ml) to 3.4 ng/ml (range: 1-7.9 ng/ml, IQR: 1.7 ng/ml, <em>P</em> = 0.01221). The median sirolimus level did not decrease significantly (<em>P</em> = 0.3828).</p></div><div><h3>Conclusion</h3><p>Everolimus levels decreased following cenobamate initiation. This is likely due to CYP3A4 induction of cenobamate. We recommend monitoring of serum plasma levels of mTORi co-administered with cenobamate and adjustment of mTORi doses accordingly.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 73-75"},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142271320","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":"Life After Neonatal Seizures: Characterizing the Longitudinal Parent Experience","authors":"Natalie K. Field BS ,&nbsp;Linda S. Franck PhD, RN ,&nbsp;Renée A. Shellhaas MD, MS ,&nbsp;Hannah C. Glass MD, MAS ,&nbsp;Kathleen A. Young BA ,&nbsp;Saisha Dhar ,&nbsp;Ashley Hamlett MEd ,&nbsp;Betsy Pilon BA ,&nbsp;Katie Means ,&nbsp;Janet S. Soul MDCM ,&nbsp;Shavonne L. Massey MD, MSCE ,&nbsp;Courtney J. Wusthoff MD ,&nbsp;Catherine J. Chu MD, MSC ,&nbsp;Cameron Thomas MD, MS ,&nbsp;Elizabeth Rogers MD ,&nbsp;Madison M. Berl PhD ,&nbsp;Giulia M. Benedetti MD ,&nbsp;Tayyba Anwar MD ,&nbsp;Monica E. Lemmon MD ,&nbsp;Neonatal Seizure Registry","doi":"10.1016/j.pediatrneurol.2024.08.007","DOIUrl":"10.1016/j.pediatrneurol.2024.08.007","url":null,"abstract":"<div><h3>Background</h3><div>Parents of neonates with seizures report persistent symptoms of depression, anxiety, and posttraumatic stress. We aimed to characterize the parent experience of caring for children impacted by neonatal seizures, including longitudinal assessment across childhood.</div></div><div><h3>Methods</h3><div>This prospective, observational, multicenter study was conducted at Neonatal Seizure Registry (<em>NSR</em>) sites in partnership with the <em>NSR</em> Parent Advisory Panel. Parents completed surveys at discharge; 12, 18, and 24 months; and 3, 4, 5, 7, and 8 years. Surveys included demographic information and open-ended questions targeting parent experience. A conventional content analysis approach was used.</div></div><div><h3>Results</h3><div>A total of 320 caregivers completed at least one open-ended question, with the majority of respondents at discharge (<em>n</em> = 142), 12 months (<em>n</em> = 169), 18 months <em>(n</em> = 208), and 24 months (<em>n</em> = 245). We identified the following three primary themes. (1) Personal Burden of Care: Parents experienced emotional distress, financial strain, physical demands, and fears for their child's unknown outcome; (2) Managing Day-to-Day Life: Parents described difficulties navigating their parenting role, including managing their child's challenging behaviors and understanding their child's needs amid neurodevelopmental impairment; (3) My Joys as a Parent: Parents valued bonding with their child, being a caregiver, and watching their child's personality grow.</div></div><div><h3>Conclusions</h3><div>Parents of children impacted by neonatal seizures face persistent challenges, which are interwoven with the joys of being a parent. Our findings suggest that future interventions should promote resiliency, address caregivers’ psychosocial needs longitudinally, and provide enhanced support for parents caring for children with medical complexity.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 76-83"},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142311525","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":"Bilateral Mechanical Thrombectomy in a Child With Single-Ventricle Congenital Heart Disease and Protein-Losing Enteropathy","authors":"Richard B. Carozza MD, MS ,&nbsp;Femke Horn MD, DPT, MA ,&nbsp;Emma G. Carter MD ,&nbsp;Jamie N. Colombo DO ,&nbsp;Michael T. Froehler MD, PhD ,&nbsp;Lori C. Jordan MD, PhD","doi":"10.1016/j.pediatrneurol.2024.08.008","DOIUrl":"10.1016/j.pediatrneurol.2024.08.008","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 40-42"},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142168439","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":"Neuropsychological Late Effects and Quality-of-Life Outcomes in Pediatric Brain Tumor Survivors: Role of Pediatric Neurologists in Monitoring and Management","authors":"Iris Paltin PhD, ABPP-CN ,&nbsp;Megan Sy PsyD ,&nbsp;Shannon M. Lundy PhD ,&nbsp;Lauren K. Ayr-Volta PhD ,&nbsp;Rebecca Canale MS ,&nbsp;Grace Fong PhD, ABPP-CN ,&nbsp;Kelly Janke PhD, ABPP-CN ,&nbsp;Gina B. Pfeifle PhD ,&nbsp;Thea Quinton PhD, ABPP-CN ,&nbsp;Hannah-Lise Schofield PhD, ABPP-CN ,&nbsp;Emily A.H. Warren PhD","doi":"10.1016/j.pediatrneurol.2024.08.014","DOIUrl":"10.1016/j.pediatrneurol.2024.08.014","url":null,"abstract":"<div><div>Pediatric brain tumor (PBT) survivors are at significantly increased risk of cognitive, psychosocial, and educational/vocational sequelae that impact health-related quality of life. These complications and health morbidities result in high burden on survivors and their families, particularly those already vulnerable to disparities in health care access and outcomes. Since neurological comorbidities are common in this population, neurologists are uniquely positioned to screen, treat identified symptoms, and connect families with services and resources. A tiered assessment approach can facilitate early identification of concerns and reduce barriers to care. We review common presenting conditions, highlight risk factors, and provide screening tools and recommendations to facilitate comprehensive survivorship care for PBT survivors.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 149-157"},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142186837","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":"A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings","authors":"Anastasia Railean MD ,&nbsp;James B. Meiling DO ,&nbsp;Nicholas J. Miller MD ,&nbsp;Matthew J. Martin MD ,&nbsp;Jaclyn M. Martindale DO ,&nbsp;James B. Caress MD","doi":"10.1016/j.pediatrneurol.2024.08.011","DOIUrl":"10.1016/j.pediatrneurol.2024.08.011","url":null,"abstract":"<div><h3>Background</h3><p>Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad, including periodic paralysis, ventricular arrhythmias with associated prolonged QT interval and U waves, and dysmorphic facial and skeletal features. Pathogenic variants of the <em>KCNJ2</em> gene are linked to ATS.</p></div><div><h3>Methods</h3><p>We present two siblings with the same pathogenic mutation and facial characteristic of hypotelorism, yet with intrafamilial and sex-specific variability.</p></div><div><h3>Results</h3><p>The first patient is a 16-year-old male who presented from an outside hospital with subacute-onset weakness. The symptoms almost completely subsided the following day, with only mild proximal muscle weakness. Magnetic resonance imaging of the brain and cervical spine was unremarkable. He had one prior attack of self-resolving weakness without apparent triggering factors and a history of premature ventricular contractions and U waves seen on electrocardiogram without cardiac symptoms. On further evaluation his physical examination was significant for micrognathia, hypotelorism, and clinodactyly. Electrodiagnostic examination showed no clear evidence of polyneuropathy. Given his presentation of the typical triad of periodic weakness, dysmorphic features, and cardiac rhythm abnormalities, genetic testing was pursued revealing a pathogenic mutation of the <em>KCNJ2</em> gene, indicative of ATS. Subsequent genetic testing of his older biological sister, with identical physical features but without a history of cardiac symptoms or episodic periodic paralysis, revealed the same pathogenic mutation.</p></div><div><h3>Conclusions</h3><p>It is essential to note that ATS can manifest with a wide range of symptoms and some individuals may display only subtle or atypical signs, contributing to this challenging diagnosis.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 24-25"},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146140","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(24)00314-X","DOIUrl":"10.1016/S0887-8994(24)00314-X","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147646","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":"Efficacy and Safety of Rituximab Treatment for Anti-N-Methyl-d-Aspartate Receptor Encephalitis Without Tumor in Children","authors":"Dongqing Zhang MD,&nbsp;Baomin Li MD,&nbsp;Jun Li MM,&nbsp;Lili Tong MM,&nbsp;Lu Yang MD","doi":"10.1016/j.pediatrneurol.2024.09.001","DOIUrl":"10.1016/j.pediatrneurol.2024.09.001","url":null,"abstract":"<div><h3>Background</h3><div>To evaluate the efficacy and safety of rituximab treatment for anti-<em>N</em>-methyl-<span>d</span>-aspartate receptor (NMDAR) encephalitis without tumor in children.</div></div><div><h3>Methods</h3><div>Eighteen pediatric patients with NMDAR encephalitis treated with rituximab after failure of intravenous immunoglobulin (IVIG) and methylprednisolone treatment were analyzed retrospectively in terms of their medical history, clinical features, laboratory examination results, and treatments. The modified Rankin scale (mRS) score, peripheral blood CD19+ B cells, recurrence, and adverse events were used to evaluate the efficacy and safety of rituximab.</div></div><div><h3>Results</h3><div>The patients were treated with rituximab 3.2 ± 1.0 days after the end of IVIG and methylprednisolone treatment. After initial rituximab treatment for four weeks, the mRS score and number of CD19+ B cells in all patients were significantly lower than those before treatment (<em>P</em> &lt; 0.05). At the last follow-up (44.1 months, 17.7 S.D.), all patients had recovered well (mRS ≤2), 14 patients (77.8%) recovered completely (mRS = 0), three patients had recurrent seizures, and one patient had mental and language impairment. Two patients had transient mild adverse events during infusion, and none of the other patients experienced severe adverse events during hospitalization or follow-up.</div></div><div><h3>Conclusions</h3><div>Rituximab appears safe and may be effective for the treatment of anti-NMDAR encephalitis without tumor in children refractory to first-line agents.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 85-90"},"PeriodicalIF":3.2,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323182","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(24)00292-3","DOIUrl":"10.1016/S0887-8994(24)00292-3","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"159 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142151240","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":"Research Priorities for Children With Hypoxic-Ischemic Encephalopathy or Myelomeningocele: A Survey of Parents","authors":"Renée A. Shellhaas MD, MS ,&nbsp;Betsy Pilon BA ,&nbsp;Judy Thibadeau RN, MN ,&nbsp;Stephanie M.D. Rau BS, CCRP ,&nbsp;John D.E. Barks MD ,&nbsp;Ronald D. Chervin MD, MS","doi":"10.1016/j.pediatrneurol.2024.08.005","DOIUrl":"10.1016/j.pediatrneurol.2024.08.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 61-63"},"PeriodicalIF":3.2,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002893/pdfft?md5=481ab962bc509a9742ddbe7bb5c5068f&pid=1-s2.0-S0887899424002893-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142228737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case Series of Children With Medulloblastoma Depicting the Disparities in Care and the Challenges in the Detection and Treatment of Pediatric Central Nervous System Tumors in Low-Resource Settings: A Case Study of Uganda","authors":"Victoria Katasi Mwebe MBChB, MMED Paediatrics ,&nbsp;Emmanuel Wegoye MBChB, MD ,&nbsp;Julie Ssekabunga MBChB, MMED Neurosurgery ,&nbsp;Justine Onen MBChB, MMED Neurosurgery ,&nbsp;Solomon Kibudde MBChB, MMED Internal Medicine ,&nbsp;Murali Chintagumpala MBBS, MD ,&nbsp;Joseph Lubega MBChB, MD","doi":"10.1016/j.pediatrneurol.2024.08.006","DOIUrl":"10.1016/j.pediatrneurol.2024.08.006","url":null,"abstract":"<div><h3>Background</h3><p>Primary central nervous system tumors are the second most common cancer among children in high-income countries (HICs). These tumors are also the leading cause of cancer-related deaths in children in this setting. Studies from HICs report gliomas as the most common pediatric cancer. However, there is paucity of data from low- and middle-income countries as not many publications have been made in this field.</p></div><div><h3>Methods</h3><p>The objective was to describe the disparities in detection, treatment, and survival of children with central nervous system tumors in low-income countries (LICs) when compared with HICs, using a case series. A retrospective chart review of three children treated for medulloblastoma in Uganda was done. In addition, a review of the literature about management of pediatric central nervous system tumors in both LICs and HICs was conducted.</p></div><div><h3>Results</h3><p>There are no quantifiable results for this case series.</p></div><div><h3>Conclusion</h3><p>There are notable differences in the quality of care for children with pediatric central nervous system tumors in LICs when compared with HICs. In Uganda, the challenges in management of these children include few multidisciplinary specialists, long distance from the neurosurgery centers, and difficulties in making a correct pathologic diagnosis, among others.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 67-72"},"PeriodicalIF":3.2,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142271321","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}