Journal of Pediatric Epilepsy最新文献_第8页

Leigh Syndrome—TUFM Gene Mutation as a New Probable Genetic Marker: A Case Report Leigh综合征- tufm基因突变作为一种新的可能的遗传标记:1例报告

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Journal of Pediatric Epilepsy Pub Date : 2020-12-23 DOI: 10.1055/s-0040-1721509

N. Jain, Harshit Bhargava, D. Dwivedi

引用次数: 0

Experience with Eslicarbazepine Acetate Treatment at a Pediatric Epilepsy Center 在儿童癫痫中心应用醋酸埃斯卡巴西平治疗的经验

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Journal of Pediatric Epilepsy Pub Date : 2020-12-07 DOI: 10.1055/s-0040-1719160

A. Tanritanir, Xiaofan Wang, T. Loddenkemper

{"title":"Experience with Eslicarbazepine Acetate Treatment at a Pediatric Epilepsy Center","authors":"A. Tanritanir, Xiaofan Wang, T. Loddenkemper","doi":"10.1055/s-0040-1719160","DOIUrl":"https://doi.org/10.1055/s-0040-1719160","url":null,"abstract":"Abstract Eslicarbazepine acetate (ESL) is a novel, once-daily antiseizure medication. We evaluated the efficacy and safety profile of ESL treatment in epilepsy patients at a single tertiary epilepsy center. In this retrospective observational study, we included 32 patients with pharmacologically intractable epilepsy receiving ESL at Boston Children's Hospital from June 2014 to June 2018. We assessed treatment outcome in terms of efficacy and tolerability at first and last follow-up (f/u). Median age was 17 (interquartile range: 10.8–20.7; range: 6.5–36) years. Twelve (37.5%) patients, including three with seizure freedom, were responders at last f/u. Eleven patients discontinued ESL due to seizure worsening (9, 28%), adverse events (AEs) (2, 6%) or both (4, 12%). Responders showed greater seizure reduction at last f/u with fewer AEs as compared with nonresponders. Ten (31%) patients developed AEs, the most common being sleep problems (5, 15%). One-year retention rate with ESL treatment was 54%. In conclusion, ESL had a good response rate in patients with pharmacologically intractable epilepsy, with about one-third of patients developing AEs.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84895501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Thyroid Functions in Children on Levetiracetam or Valproic Acid Therapy 左乙拉西坦或丙戊酸治疗对儿童甲状腺功能的影响

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Journal of Pediatric Epilepsy Pub Date : 2020-11-02 DOI: 10.1055/s-0040-1716916

Elif Karatoprak, Samet Paksoy

{"title":"Thyroid Functions in Children on Levetiracetam or Valproic Acid Therapy","authors":"Elif Karatoprak, Samet Paksoy","doi":"10.1055/s-0040-1716916","DOIUrl":"https://doi.org/10.1055/s-0040-1716916","url":null,"abstract":"Abstract The aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80442089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Electroencephalographic Findings in Pediatric Patients with Anti-N-Methyl-D-Aspartate Receptor Encephalitis: The San Diego Experience 抗n -甲基- d -天冬氨酸受体脑炎患儿的脑电图表现:圣地亚哥经验

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Journal of Pediatric Epilepsy Pub Date : 2020-11-02 DOI: 10.1055/s-0040-1718723

Aliya L. Frederick, Jennifer H. Yang, Natalie Guido-Estrada, Jose Soria-Lopez, Shifteh Sattar

{"title":"Electroencephalographic Findings in Pediatric Patients with Anti-N-Methyl-D-Aspartate Receptor Encephalitis: The San Diego Experience","authors":"Aliya L. Frederick, Jennifer H. Yang, Natalie Guido-Estrada, Jose Soria-Lopez, Shifteh Sattar","doi":"10.1055/s-0040-1718723","DOIUrl":"https://doi.org/10.1055/s-0040-1718723","url":null,"abstract":"Abstract Diagnosing anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis clinically can be challenging. There is a growing interest in identifying specific electroencephalographic features to help guide early management. A retrospective chart review was conducted of pediatric patients admitted to Rady Children's Hospital between January 1, 2010 and April 1, 2017. We included patients with the diagnosis of encephalitis who underwent continuous video electroencephalogram (VEEG) for at least 12 hours, and presented with less than 14 days of symptoms. We compared the electroencephalographic features of non-rapid eye movement (NREM) sleep between patients with antibody confirmed anti-NMDAR encephalitis and patients with encephalitis from other etiologies. We identified seven patients who met our inclusion criteria, five of whom were diagnosed with anti-NMDAR encephalitis. Four of the five patients had a significant reduction in NREM sleep, while one patient had increased NREM sleep associated with clinical catatonia and hypersomnolence. Sleep was preserved in the two cases of nonimmune mediated encephalitis. Our results suggest that a prolonged VEEG to capture sleep coupled with clinical features can aid in early diagnosis and treatment of anti-NMDAR encephalitis, often before confirmatory antibody testing is available.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89153531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Shuddering Attacks in an Infant 婴儿的寒颤发作

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Journal of Pediatric Epilepsy Pub Date : 2020-10-26 DOI: 10.1055/s-0040-1718524

R. Koul

引用次数: 0

Improving Transitional Services for Adolescents and Young Adults with Epilepsy and Intellectual Disability 改善对患有癫痫和智力残疾的青少年和青壮年的过渡服务

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Journal of Pediatric Epilepsy Pub Date : 2020-10-09 DOI: 10.1055/s-0040-1716915

William A. Schraegle, S. Young, Eman K. Rettig, Angie R. Payne, Janet Wilson, Elizabeth A. Wedberg-Sivam, J. Titus

{"title":"Improving Transitional Services for Adolescents and Young Adults with Epilepsy and Intellectual Disability","authors":"William A. Schraegle, S. Young, Eman K. Rettig, Angie R. Payne, Janet Wilson, Elizabeth A. Wedberg-Sivam, J. Titus","doi":"10.1055/s-0040-1716915","DOIUrl":"https://doi.org/10.1055/s-0040-1716915","url":null,"abstract":"Abstract The transition from pediatric to adult health care systems is challenging for many adolescents with epilepsy and their families, and those challenges are compounded for adolescents with comorbid intellectual disabilities and epilepsy (ID-E). Many traditional transition pathways to adult care are inadequate, as they fail to address important considerations unique to the ID-E population or are absent entirely. Poor organization of care during critical transition periods increases the risks of sudden unexpected death in epilepsy, suboptimal seizure control, inadequate management of comorbidities, and poor psychological and social outcomes. The literature lacks systematic studies on effective transition programs for this population. The present review provides an overview of the main themes important in care transitions for the ID-E population: (1) precise diagnosis and management of seizures; (2) mental health and medical comorbidities affecting care; (3) accessing behavioral, habilitative, legal, financial, and community resources; and (4) caretaker support. We propose a specific framework which includes targeted recommendations of minimum care standards for youth with ID-E transitioning to adult care.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75029361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epilepsy Transition in Ambulatory Care: Experiences and Benefits of an Epilepsy Transition Team 门诊治疗中的癫痫过渡:癫痫过渡小组的经验和益处

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Journal of Pediatric Epilepsy Pub Date : 2020-10-01 DOI: 10.1055/s-0040-1716913

Amisha G Patel, S. Jan, C. Steinway, Alex F. Bullock, Adam Greenberg, Bethany Thomas, Lawrence Fried, L. Brown, Marissa Digiovine

{"title":"Epilepsy Transition in Ambulatory Care: Experiences and Benefits of an Epilepsy Transition Team","authors":"Amisha G Patel, S. Jan, C. Steinway, Alex F. Bullock, Adam Greenberg, Bethany Thomas, Lawrence Fried, L. Brown, Marissa Digiovine","doi":"10.1055/s-0040-1716913","DOIUrl":"https://doi.org/10.1055/s-0040-1716913","url":null,"abstract":"Abstract Epilepsy is the fourth most common neurological disorder and affects people of all ages; however, at least 40% of children will continue to have seizures into adulthood. Children and youth with epilepsy (CYE) experience neurologic and extraneurologic changes that can negatively impact self-management skills necessary for optimal adult function. Those with intellectual disability have additional transition challenges. Improving the medical transition process for all CYE is vital and necessary. In this article, we will review some of the biologic, behavioral, psychologic, therapeutic, and social considerations for CYE complicating transition. We will then describe general approaches to transitioning CYE to adult care, specifically methods involving creating a framework with overarching transition aims in place, and share our experience at the Children's Hospital of Philadelphia implementing these approaches. Our comprehensive model for a formal transition policy, team structure, and ongoing assessment supporting CYE transitioning into adult care is a practical program that can be integrated into clinical care. Proper investment in the transition process will translate into measurable, significant long-term benefits for all involved.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86544958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Transitioning Ambulatory Medicine from Pediatrics to Adult Care for Patients with Epilepsy and Intellectual Disability 门诊医学从儿科过渡到成人护理癫痫和智力残疾患者

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Journal of Pediatric Epilepsy Pub Date : 2020-09-30 DOI: 10.1055/s-0040-1717135

Derryl Miller, M. Felker, M. Ciccarelli

引用次数: 1

Guanidinoacetate Methyltransferase Deficiency, a Treatable Neurodevelopmental Disorder 胍丁酯甲基转移酶缺乏症，一种可治疗的神经发育障碍

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Journal of Pediatric Epilepsy Pub Date : 2020-09-29 DOI: 10.1055/s-0042-1760291

V. Aghamollaii, Shakila Meshkat, S. Bakhtiari, E. Alehabib, S. G. Firouzabadi, Samira Molaei, M. Kruer, H. Darvish

引用次数: 0

Pharmacological Considerations When Transitioning the Care of Epilepsy Patients from Pediatric to Adult Epilepsy Centers 从儿童癫痫中心过渡到成人癫痫中心治疗癫痫患者时的药理学考虑

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Journal of Pediatric Epilepsy Pub Date : 2020-09-24 DOI: 10.1055/s-0040-1716865

Natalie Guido-Estrada, Shifteh Sattar

{"title":"Pharmacological Considerations When Transitioning the Care of Epilepsy Patients from Pediatric to Adult Epilepsy Centers","authors":"Natalie Guido-Estrada, Shifteh Sattar","doi":"10.1055/s-0040-1716865","DOIUrl":"https://doi.org/10.1055/s-0040-1716865","url":null,"abstract":"Abstract There is scarce evidence in review of the available literature to support a clear and superior model for the transition of care for epilepsy patients from pediatric to adult centers. Anecdotally, there is a common perception that families are reluctant to make this change and that the successful transition of care for epilepsy can be a challenge for patients, families, and physicians. As part of the effort to prepare the patient and family for the adult model of care, several treatment issues should be addressed. In this article, we discuss the specific challenges for physicians in transition of care for epilepsy patients from a pharmacological standpoint, which include differences in metabolism and pharmacodynamics that can impact tolerability or efficacy of antiepileptic medications, lifestyle changes affecting medication compliance and seizure control, acquired adult health conditions necessitating new medications that may result in adverse drug interactions, and adult neurologists' potential lack of familiarity with certain medications typically used in the pediatric epilepsy population. We offer this as a guide to avoid one of the many possible pitfalls when epilepsy patients transition to adult care.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2020-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85352198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0