在唐氏综合征和威廉姆斯综合征中,日常执行功能和适应性行为之间的跨领域关联的划分
Darren R Hocking1,2, Elysse Byer3, Nancy Raitano Lee4
1Institute for Health & Sport, Victoria University, Melbourne, Australia. darren.hocking@vu.edu.au.
Scientific reports
|November 25, 2024
概括
患有威廉姆斯综合征 (WS) 的成年人表现出显著的执行功能 (EF) 缺陷,与唐氏综合征 (DS) 患者不同. 特定的EF技能区分WS和DS,在每个群体中不同影响适应性功能和智力.
科学领域:
- 神经发育障碍 神经发育障碍
- 认知心理学 认知心理学
- 遗传学 是一个遗传学.
背景情况:
- 执行功能 (EF) 困难在唐氏综合征 (DS) 和威廉姆斯综合征 (WS) 中很常见.
- 在这些遗传综合征中,对成人EF,适应性功能和智力存在有限的研究.
- 了解交叉综合征EF概况对于有针对性的干预至关重要.
研究的目的:
- 用BRIEF-A来描述DS和WS的成年人日常EF的优点和弱点.
- 在这些群体中,研究特定EF技能,适应性功能和智力能力之间的关联.
- 确定DS和WS之间是否存在EF相关关系的差异.
主要方法:
- 用执行职能-成年信息人版本 (BRIEF-A) 的行为评级清单进行基于信息人的EF评估.
- 包括老年青少年和被诊断患有DS或WS的年轻人.
- 分析了BRIEF-A尺度,适应性/不适应性行为和智商得分之间的关系.
主要成果:
- 威廉姆斯综合征 (WS) 组在大多数BRIEF-A领域表现出广泛的,临床显著的EF损伤.
- 特定的EF技能 (抑制,材料组织,任务监控) 将WS与DS区分开来.
- 在WS中,工作记忆与适应性功能和智商相关;在DS中,任务监控和转移预测了行为问题.
结论:
- WS的特点是普遍存在的EF缺陷,比DS更严重.
- 独特的EF配置文件及其与适应性功能和行为的关联在WS和DS之间有很大的差异.
- 研究结果支持为患有DS和WS的个体开发定制的认知干预措施.
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