Pediatric neurology最新文献

A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing. 对接受基因组测试的小儿癫痫队列中意义不确定的变异体进行重新分类的回顾性研究。

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-13 DOI: 10.1016/j.pediatrneurol.2024.09.009

Nitish Chourasia, Rohan Vaidya, Soham Sengupta, Heather C Mefford, James Wheless

{"title":"A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.","authors":"Nitish Chourasia, Rohan Vaidya, Soham Sengupta, Heather C Mefford, James Wheless","doi":"10.1016/j.pediatrneurol.2024.09.009","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.09.009","url":null,"abstract":"<p><strong>Background: </strong>The interpretation and communication of variant of uncertain significance (VUS) genetic results often present a challenge in clinical practice. VUSs can be reclassified over time into benign/likely benign (B/LB) or pathogenic/likely pathogenic (P/LP) based on the availability of updated data. We evaluate the frequency of VUS reclassification in our tertiary care epilepsy cohort undergoing epilepsy genetic panel (EGP) testing.</p><p><strong>Methods: </strong>Patients with established diagnoses of epilepsy (neonates to 18 years of age) who underwent EGP testing between 2017 and 2022 from a single commercial laboratory were evaluated. Patients who had any variant reclassified from their initial EGP report were included. Duration between reclassification of VUSs and types of reclassifications were compared between developmental and epileptic encephalopathy (DEE) versus non-DEE phenotypes.</p><p><strong>Results: </strong>Over the five years, 1025 probands were tested using EGP. Eighty-five probands (8%) had at least one genetic variant reclassified. A total of 252 initial VUSs were reported in the 85 probands, of which 113 (45%) VUSs were reclassified. Of 113 reclassification events, 21 (19%) were upgraded to P/LP and 92 (81%) were reclassified to B/LB. The median (interquartile range) duration between variant reinterpretations in the cohort was 12 (14.5) months. There were no significant differences in the duration between reclassification and the likelihood of reclassification of VUSs to B/LB or P/LP between the two groups (DEE versus non-DEE).</p><p><strong>Conclusions: </strong>VUS reclassification over time can lead to clinically significant variant reinterpretation in patients with unknown genetic diagnoses. Periodic genomic test reinterpretation, preferably yearly, is recommended in routine clinical practice.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366195","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}

引用次数: 0

Grip Strength and Sarcopenia in Children With Cerebral Palsy: A Level Playing Field? 脑瘫儿童的握力和肌肉疏松症：公平竞争？

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-11 DOI: 10.1016/j.pediatrneurol.2024.09.002

引用次数: 0

Youth and Family Perspectives on Diagnosis Communication About Pediatric Functional Seizures: A Qualitative Study 青少年和家庭对小儿功能性癫痫发作诊断沟通的看法：定性研究

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-10 DOI: 10.1016/j.pediatrneurol.2024.09.003

{"title":"Youth and Family Perspectives on Diagnosis Communication About Pediatric Functional Seizures: A Qualitative Study","authors":"","doi":"10.1016/j.pediatrneurol.2024.09.003","DOIUrl":"10.1016/j.pediatrneurol.2024.09.003","url":null,"abstract":"<div><h3>Background</h3><div>This study aims to understand diagnosis communication experiences and preferences of youths with functional seizures and their parents.</div></div><div><h3>Methods</h3><div>Semistructured interviews with youths and their parents from a tertiary care children's hospital were conducted separately. We confirmed the diagnosis of functional seizures with the youth's treating providers. All interviews were audio recorded and professionally transcribed. Two coders performed thematic analysis and determined themes.</div></div><div><h3>Results</h3><div>Thirteen youths (aged 12 to 18) and 13 parents completed interviews separately. Themes included the following: (1) both parents and youths reported substantial fear about their symptoms, diagnosis, prognosis, and treatment options; (2) good communication skills highlighted included providing reassurance, listening, and allowing time for questions, with different preferences between youths and parents in the mode of communication; (3) poor communication for both youths and parents included use of medical jargon, brevity of communication especially with the youth, minimization of youth's symptoms, lack of apparent compassion, and lack of written materials to supplement discussions; (4) perspectives on the role of mental health in functional seizures were heterogeneous, yet concrete treatment plans were desired including access to behavioral therapy; and (5) youths and parents wanted practical guidance including plans for school and how to respond to functional seizures in all settings.</div></div><div><h3>Conclusions</h3><div>Youths and parents provided concrete recommendations for optimal diagnosis communication. Study findings will inform the future development of an educational intervention to improve communication and create a supportive environment for youths with functional seizures.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357641","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}

引用次数: 0

A Novel Question Prompt List for Parents of Neonates With Seizures 新生儿癫痫发作家长的新颖问题提示清单

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-07 DOI: 10.1016/j.pediatrneurol.2024.08.012

引用次数: 0

Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy 模仿面阔肱肌营养不良症的超轻型肌肉营养不良症

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-07 DOI: 10.1016/j.pediatrneurol.2024.09.004

引用次数: 0

Mammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment 哺乳动物雷帕霉素靶标抑制剂水平在塞诺巴马特治疗下下降

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-07 DOI: 10.1016/j.pediatrneurol.2024.08.009

{"title":"Mammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment","authors":"","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":null,"pages":null},"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}

引用次数: 0

Life After Neonatal Seizures: Characterizing the Longitudinal Parent Experience 新生儿癫痫发作后的生活：描述父母的纵向经历

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-07 DOI: 10.1016/j.pediatrneurol.2024.08.007

{"title":"Life After Neonatal Seizures: Characterizing the Longitudinal Parent Experience","authors":"","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":null,"pages":null},"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}

引用次数: 0

Bilateral Mechanical Thrombectomy in a Child With Single-Ventricle Congenital Heart Disease and Protein-Losing Enteropathy 单心室先天性心脏病和蛋白丢失性肠病患儿的双侧机械血栓切除术

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-07 DOI: 10.1016/j.pediatrneurol.2024.08.008

引用次数: 0

Neuropsychological late effects and quality of life outcomes in pediatric brain tumor survivors: Role of pediatric neurologists in monitoring and management 小儿脑肿瘤幸存者的神经心理后期影响和生活质量：儿科神经学家在监测和管理中的作用

IF 3.8 3区医学

Pediatric neurology Pub Date : 2024-09-07 DOI: 10.1016/j.pediatrneurol.2024.08.014

Iris Paltin PhD. ABPP-CN, Megan Sy PsyD, Shannon M. Lundy PhD, Lauren K. Ayr-Volta PhD, Rebecca Canale MS, Grace Fong PhD. ABPP-CN, Kelly Janke PhD. ABPP-CN, Gina B. Pfeifle PhD, Thea Quinton PhD. ABPP-CN, Hannah-Lise Schofield PhD. ABPP-CN, Emily A.H. Warren PhD

引用次数: 0

A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings 安徒生-塔维尔综合征在青少年兄弟姐妹中的晚期诊断。

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-09-06 DOI: 10.1016/j.pediatrneurol.2024.08.011

{"title":"A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings","authors":"","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":null,"pages":null},"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}

引用次数: 0