• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

发育性和癫痫性脑病的研究进展:我们了解多少?

Learnings in developmental and epileptic encephalopathies: what do we know?

机构信息

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

IRCCS Istituto Giannina Gaslini, Genoa, Italy.

出版信息

Expert Rev Neurother. 2023 Jan;23(1):45-57. doi: 10.1080/14737175.2023.2176221. Epub 2023 Feb 8.

DOI:10.1080/14737175.2023.2176221
PMID:36726225
Abstract

INTRODUCTION

Developmental and Epileptic Encephalopathies (DEEs) encompass a group of neurological disorders caused by either abnormal neuronal development and white matter maturation or even by weak synaptic plasticity. Hitherto, patients commonly have epileptic seizures featuring cognitive dysfunction, such as neurosensory disorders, difficulties in learning, behavioral disturbances, or speech delay.

AREAS COVERED

This paper provides a comprehensive review of the current knowledge of DEEs and cognition. Medline/Pubmed database was screened for in-English articles published between 1967-2022 dealing with the topic of DEEs and cognitive development. Two authors independently screened the title and abstract of each record and reviewed the selected articles. Reviews, randomized clinical trials, and case reports were selected.

EXPERT OPINION

Scientific literature has never explicitly dealt with the early neuro-psychomotor rehabilitation and neuropsychological assessment of patients with DEEs. Targeted intervention and environmental stimuli can influence the maturation of neuronal circuits and shape changes in physical and mental development based on neuronal plasticity, particularly if applied in 'critical periods' liable to heightened sensitivity. Thus, 'early neurorehabilitation interventions' are worthy of being more and more applied to clinical practice to improve the quality of life and reduce the psychosocial burden on families and caregivers.

摘要

简介

发育性和癫痫性脑病(DEE)包括一组由神经元发育和白质成熟异常甚至突触可塑性减弱引起的神经发育障碍。迄今为止,患者通常会出现癫痫发作,伴有认知功能障碍,如神经感觉障碍、学习困难、行为障碍或言语延迟。

涵盖领域

本文对 DEE 和认知的现有知识进行了全面回顾。对 1967 年至 2022 年间发表的涉及 DEE 和认知发育主题的英文文章进行了 Medline/Pubmed 数据库筛选。两位作者独立筛选了每条记录的标题和摘要,并对选定的文章进行了回顾。选择了综述、随机临床试验和病例报告。

专家意见

科学文献从未明确涉及 DEE 患者的早期神经运动康复和神经心理学评估。有针对性的干预和环境刺激可以根据神经元可塑性影响神经元回路的成熟,并改变身体和精神发育的变化,特别是在容易出现高度敏感的“关键期”应用时。因此,“早期神经康复干预”越来越值得应用于临床实践,以提高生活质量,减轻家庭和照顾者的心理社会负担。

相似文献

1
Learnings in developmental and epileptic encephalopathies: what do we know?发育性和癫痫性脑病的研究进展:我们了解多少?
Expert Rev Neurother. 2023 Jan;23(1):45-57. doi: 10.1080/14737175.2023.2176221. Epub 2023 Feb 8.
2
Impact of developmental and epileptic encephalopathies on caregivers: A literature review.发育性和癫痫性脑病对照料者的影响:一项文献综述。
Epilepsy Behav. 2021 Oct 1;124:108324. doi: 10.1016/j.yebeh.2021.108324.
3
Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.在流行地区,服用抗叶酸抗疟药物的人群中,叶酸补充剂与疟疾易感性和严重程度的关系。
Cochrane Database Syst Rev. 2022 Feb 1;2(2022):CD014217. doi: 10.1002/14651858.CD014217.
4
[Epileptic encephalopathies of onset in neonates and infants].[新生儿及婴儿期起病的癫痫性脑病]
Medicina (B Aires). 2022 Aug 30;82 Suppl 3:13-18.
5
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.全外显子组测序在鉴定常染色体隐性发育性和癫痫性脑病分子病因中的应用。
Neurol Sci. 2020 Dec;41(12):3729-3739. doi: 10.1007/s10072-020-04619-8. Epub 2020 Jul 23.
6
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.发育性和癫痫性脑病:从遗传异质性到表型连续统。
Physiol Rev. 2023 Jan 1;103(1):433-513. doi: 10.1152/physrev.00063.2021. Epub 2022 Aug 11.
7
What are the epileptic encephalopathies?什么是癫痫性脑病?
Curr Opin Neurol. 2020 Apr;33(2):179-184. doi: 10.1097/WCO.0000000000000793.
8
Developmental and epileptic encephalopathies: what we do and do not know.发育性和癫痫性脑病:我们知道什么和不知道什么。
Brain. 2021 Feb 12;144(1):32-43. doi: 10.1093/brain/awaa371.
9
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.小儿癫痫管理建议总结:国际抗癫痫联盟儿科学委员会特别工作组报告
Epilepsia. 2015 Aug;56(8):1185-97. doi: 10.1111/epi.13057. Epub 2015 Jun 30.
10
The future of Cochrane Neonatal.考克兰新生儿协作网的未来。
Early Hum Dev. 2020 Nov;150:105191. doi: 10.1016/j.earlhumdev.2020.105191. Epub 2020 Sep 12.

引用本文的文献

1
Neuro and Psychomotor Therapist of Developmental Age Professional in Italy: An Anomaly or an Opportunity?意大利发育年龄专业的神经与心理运动治疗师:是一种异常还是一个机遇?
Arch Rehabil Res Clin Transl. 2024 Sep 26;6(4):100372. doi: 10.1016/j.arrct.2024.100372. eCollection 2024 Dec.
2
Assessment of aggressive behavior in Dravet syndrome: a critical look.对德雷维特综合征攻击性行为的评估:批判性审视。
Front Integr Neurosci. 2024 Apr 29;18:1403681. doi: 10.3389/fnint.2024.1403681. eCollection 2024.
3
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.
为 CDKL5 缺乏症患者提供优质护理:欧洲专家小组对患者就医旅程的意见。
Epilepsia Open. 2024 Jun;9(3):832-849. doi: 10.1002/epi4.12914. Epub 2024 Mar 7.
4
A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders.间歇性低氧的机制和后果及其在儿科自主神经紊乱中的作用的叙述性综述。
Clin Auton Res. 2023 Jun;33(3):287-300. doi: 10.1007/s10286-023-00958-6. Epub 2023 Jun 16.