Phonological working memory and FOXP2.
Phonological working memory and FOXP2.
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DOI：
10.1016/j.neuropsychologia.2017.11.027
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发表时间：
2018-01-08
期刊：
影响因子：
2.6
通讯作者：
Mishkin M
中科院分区：
文献类型：
--
作者：
Schulze K;Vargha-Khadem F;Mishkin M
对 KE 家族 (aKE) 受影响成员的发现和描述引发了关于基因如何赋予人类独特的言语和语言特征的研究。这种遗传对言语相关认知机制的影响的许多方面仍然难以捉摸，例如不直接参与言语产生的认知过程是否以及如何受到影响。在当前的研究中，我们研究了 FOXP2 突变对工作记忆 (WM) 的影响。多代 KE 家族的一半成员患有遗传性言语语言障碍，其特征是由 FOXP2 基因突变引起的言语和口面部运用障碍。受影响的 KE 成员 (aKE) 的核心表型是重复单词（尤其是复杂的非单词）和一般口部运动序列协调方面的缺陷。口部运动序列的执行和语音序列的重复都需要 WM，但迄今为止，aKE 在该领域的记忆能力尚未得到详细研究。为此，我们使用了基于 Baddeley 和 Hitch WM 模型的测试系列，该模型假设对于规划和操作信息很重要的中央执行器 (CE) 与两个特定于模态的组件协同工作：语音循环 (PL)，专门用于处理基于语音的信息；以及视觉空间画板（VSSP），致力于处理视觉和空间信息。我们比较了 5 名 aKE 和 15 名健康对照（包括 3 名未受影响的 KE 家族成员，不具有 FOXP2 突变）的与 CE、PL 和 VSSP 功能相关的 WM 表现。 aKE 在 PL 组件上的得分显着低于该对照组，但在 VSSP 或 CE 组件上则没有。此外，相对于对照组，aKE 不仅在运动（即发音）输出方面受到损害，而且在基于识别的 PL 子测试（单词列表匹配）方面也受到损害，该子测试不需要语音产生。这些结果表明，aKE 的语音 WM 受损可能是由于基于语音的材料的默声排练中的缺陷造成的，而这种缺陷又可能是由于基于语音的表征受损造成的。
The discovery and description of the affected members of the KE family (aKE) initiated research on how genes enable the unique human trait of speech and language. Many aspects of this genetic influence on speech-related cognitive mechanisms are still elusive, e.g. if and how cognitive processes not directly involved in speech production are affected. In the current study we investigated the effect of the FOXP2 mutation on Working Memory (WM). Half the members of the multigenerational KE family have an inherited speech-language disorder, characterised as a verbal and orofacial dyspraxia caused by a mutation of the FOXP2 gene. The core phenotype of the affected KE members (aKE) is a deficiency in repeating words, especially complex non-words, and in coordinating oromotor sequences generally. Execution of oromotor sequences and repetition of phonological sequences both require WM, but to date the aKE's memory ability in this domain has not been examined in detail. To do so we used a test series based on the Baddeley and Hitch WM model, which posits that the central executive (CE), important for planning and manipulating information, works in conjunction with two modality-specific components: The phonological loop (PL), specialized for processing speech-based information; and the visuospatial sketchpad (VSSP), dedicated to processing visual and spatial information. We compared WM performance related to CE, PL, and VSSP function in five aKE and 15 healthy controls (including three unaffected members of the KE family who do not have the FOXP2 mutation). The aKE scored significantly below this control group on the PL component, but not on the VSSP or CE components. Further, the aKE were impaired relative to the controls not only in motor (i.e. articulatory) output but also on the recognition-based PL subtest (word-list matching), which does not require speech production. These results suggest that the aKE's impaired phonological WM may be due to a defect in subvocal rehearsal of speech-based material, and that this defect may be due in turn to compromised speech-based representations.
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影响因子：
9.8
作者：
Petrides M;Pandya DN
通讯作者：
Pandya DN
影响因子：
4
作者：
CONRAD, R
通讯作者：
CONRAD, R
影响因子：
1.7
作者：
Mercer, Tom;McKeown, Denis
通讯作者：
McKeown, Denis
DOI：
10.1073/pnas.0503998102
发表时间：
2005-06-28
影响因子：
11.1
作者：
Fritz, J;Mishkin, M;Saunders, RC
通讯作者：
Saunders, RC
影响因子：
2.5
作者：
Alcock, KJ;Passingham, RE;Vargha-Khadem, F
通讯作者：
Vargha-Khadem, F