单基因儿童发育性性脑病变:儿童神经心理学家的一本入门书
Ashley L Nguyen-Martinez1, Morgan Jolliffe1, Lauren M Scimeca2
1Department of Pediatrics, Section of Neurology, University of Colorado Anschutz School of Medicine, Aurora, CO, USA.
概括
本综述为儿科神经心理学家提供了关于单基因发育性和性脑病变 (DEE) 的基本信息. 它涵盖了遗传性的原因,临床特征和神经认知结果,以改善患者护理和评估策略.
科学领域:
- 遗传学和神经遗传学
- 儿科神经学 儿科神经学
- 神经心理学 神经心理学
背景情况:
- 发育性和性脑病变 (DEE) 是一种罕见的性疾病,遗传原因越来越被认可.
- 单基因变异是DEE病因的一个重要类别,导致复杂的临床表现.
- 了解这些遗传性对于知情的神经心理学实践至关重要.
研究的目的:
- 为儿科神经心理学家提供基于证据的单基因DEE的基础知识.
- 详细说明常见单基因儿科的临床特征和神经认知结果.
- 为此群体指导神经心理评估和实践.
主要方法:
- 审查关于单基因DEE的基础知识.
- 描述八种常见的单基因儿科的临床特征和神经认知结果.
- 对13种额外的单基因儿科的概述.
- 目前处理景观的总结.
主要成果:
- 八种流行单基因儿科的详细临床和神经认知概况.
- 其他13种单基因儿科的简要描述.
- 对这些疾病的治疗环境的概述.
结论:
- 对单基因DEE的基础知识增强了神经心理学实践,包括测试选择和解释.
- 这本小册子使儿科神经心理学家能够更好地为患有这些复杂遗传性症疾病的患者提供服务.
- 为了最佳的评估和管理,需要进一步的研究和临床关注.
关键词:
迪斯 (Dees) 是一个法定债权.神经遗传学 神经遗传学性脑病变 (Epileptic Encephalopathies) 是一种发生在脑中的疾病.神经心理学的初级课程单基因 - 一种单基因.更多相关视频
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