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语言处理技能与 FMR1 变异有关:脆性 X 智力低下 1 前突变女性快速自动命名过程中注视-语言协调的研究。

Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.

机构信息

Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, Illinois, United States of America.

Clinical Child Psychology Program, University of Kansas, Lawrence, Kansas, United States of America.

出版信息

PLoS One. 2019 Jul 26;14(7):e0219924. doi: 10.1371/journal.pone.0219924. eCollection 2019.

Abstract

The FMR1 premutation (PM) is relatively common in the general population. Evidence suggests that PM carriers may exhibit subtle differences in specific cognitive and language abilities. This study examined potential mechanisms underlying such differences through the study of gaze and language coordination during a language processing task (rapid automatized naming; RAN) among female carriers of the FMR1 PM. RAN taps a complex set of underlying neuropsychological mechanisms, with breakdowns implicating processing disruptions in fundamental skills that support higher order language and executive functions, making RAN (and analysis of gaze/language coordination during RAN) a potentially powerful paradigm for revealing the phenotypic expression of the FMR1 PM. Forty-eight PM carriers and 56 controls completed RAN on an eye tracker, where they serially named arrays of numbers, letters, colors, and objects. Findings revealed a pattern of inefficient language processing in the PM group, including a greater number of eye fixations (namely, visual regressions) and reduced eye-voice span (i.e., the eyes' lead over the voice) relative to controls. Differences were driven by performance in the latter half of the RAN arrays, when working memory and processing load are the greatest, implicating executive skills. RAN deficits were associated with broader social-communicative difficulties among PM carriers, and with FMR1-related molecular genetic variation (higher CGG repeat length, lower activation ratio, and increased levels of the fragile X mental retardation protein; FMRP). Findings contribute to an understanding of the neurocognitive profile of PM carriers and indicate specific gene-behavior associations that implicate the role of the FMR1 gene in language-related processes.

摘要

脆性 X 智力低下 1 号基因(FMR1)前突变(PM)在普通人群中较为常见。有证据表明,PM 携带者在特定认知和语言能力上可能表现出细微差异。本研究通过对 FMR1 PM 女性携带者在语言处理任务(快速自动命名;RAN)中的注视和语言协调的研究,探讨了这种差异的潜在机制。RAN 涉及到一组复杂的神经心理学机制,这些机制的崩溃表明,支持更高层次语言和执行功能的基本技能存在处理障碍,使得 RAN(以及 RAN 期间的注视/语言协调分析)成为揭示 FMR1 PM 表型表达的潜在强大范式。48 名 PM 携带者和 56 名对照者在眼动追踪器上完成了 RAN,他们按顺序命名了数字、字母、颜色和物体的数组。研究结果显示,PM 组存在语言处理效率低下的模式,包括更多的眼注视(即视觉回归)和减少的眼声跨度(即眼睛相对于声音的领先),与对照组相比。差异是由 RAN 数组后半部分的表现驱动的,此时工作记忆和处理负荷最大,涉及执行技能。RAN 缺陷与 PM 携带者更广泛的社交沟通困难有关,也与 FMR1 相关的分子遗传变异(更高的 CGG 重复长度、更低的激活率和更高水平的脆性 X 智力低下蛋白;FMRP)有关。这些发现有助于理解 PM 携带者的神经认知特征,并表明特定的基因-行为关联,表明 FMR1 基因在语言相关过程中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88aa/6660192/b5a29ea5c12c/pone.0219924.g001.jpg

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