脆性X综合征中的执行功能：一项系统综述。
Executive Function in Fragile X Syndrome: A Systematic Review.
作者信息
Schmitt Lauren M, Shaffer Rebecca C, Hessl David, Erickson Craig
机构信息
Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
出版信息
Brain Sci. 2019 Jan 16;9(1):15. doi: 10.3390/brainsci9010015.
Executive function (EF) supports goal-directed behavior and includes key aspects such as working memory, inhibitory control, cognitive flexibility, attention, processing speed, and planning. Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and is phenotypically characterized by EF deficits beyond what is expected given general cognitive impairments. Yet, a systematic review of behavioral studies using performance-based measures is needed to provide a summary of EF deficits across domains in males and females with FXS, discuss clinical and biological correlates of these EF deficits, identify critical limitations in available research, and offer suggestions for future studies in this area. Ultimately, this review aims to advance our understanding of the underlying pathophysiological mechanisms contributing to EF in FXS and to inform the development of outcome measures of EF and identification of new treatment targets in FXS.
执行功能（EF）支持目标导向行为，包括工作记忆、抑制控制、认知灵活性、注意力、处理速度和计划等关键方面。脆性X综合征（FXS）是导致智力残疾的主要遗传性单基因病因，其表型特征是执行功能缺陷，超出了一般认知障碍所预期的范围。然而，需要对使用基于表现的测量方法的行为研究进行系统综述，以总结患有FXS的男性和女性在各个领域的执行功能缺陷，讨论这些执行功能缺陷的临床和生物学相关性，确定现有研究中的关键局限性，并为该领域的未来研究提供建议。最终，本综述旨在增进我们对导致FXS执行功能的潜在病理生理机制的理解，并为FXS执行功能结果测量的制定和新治疗靶点的识别提供信息。
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