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遗传学与数学:FMR1 前突变女性携带者。

Genetics and mathematics: FMR1 premutation female carriers.

机构信息

Dipartimento di Neuroscienze, Università di Padova, via Giustiniani 5, Padova 35128, Italy.

出版信息

Neuropsychologia. 2012 Dec;50(14):3757-63. doi: 10.1016/j.neuropsychologia.2012.10.021. Epub 2012 Nov 1.

DOI:10.1016/j.neuropsychologia.2012.10.021
PMID:23123760
Abstract

Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills. One reason for this might be that standard clinical batteries used so far may be inadequate to uncover precise deficits within specific mathematical skills. In fact, these batteries do not clearly distinguish between specific mathematical abilities and are therefore likely to provide only a generic indication of a deficit. Mathematical skills in a group of females with FMR1 premutation were investigated through the use of an extensive, theoretically grounded battery of mathematical tasks, encompassing counting, number comprehension, numerical transcoding, calculation skills and arithmetic principles. Moreover, the mental representation of numbers was assessed by studying the Spatial Numerical Association of Response Codes (SNARC) effect and mental number line (MNL) bisection. The FMR1 premutation group (N=18) comprised 29-50 years old women of normal intelligence, who were individually matched on age, sex and education to a group of healthy participants (N=18). Specific yet subtle weaknesses were detected on processes of basic number understanding such as dealing with analogue scales and certain aspects of number transcoding, in the presence of otherwise spared calculation abilities.

摘要

对无 FXTAS 的 FMR1 前突变携带者的神经心理学研究显示,一个领域的结果存在矛盾,即数学技能。造成这种情况的一个原因可能是,迄今为止使用的标准临床电池可能不足以发现特定数学技能中的精确缺陷。事实上,这些电池并没有清楚地区分特定的数学能力,因此可能只能提供一般的缺陷迹象。通过使用广泛的、基于理论的数学任务电池,包括计数、数字理解、数字转换、计算技能和算术原理,研究了一组 FMR1 前突变携带者的数学技能。此外,通过研究空间数字反应代码关联(SNARC)效应和心理数字线(MNL)二分法来评估数字的心理表示。FMR1 前突变组(N=18)由 29-50 岁的正常智力女性组成,她们在年龄、性别和教育方面与一组健康参与者(N=18)个体匹配。在计算能力正常的情况下,在前突变组中发现了处理模拟量表和某些数字转换方面的基本数字理解过程的特定但微妙的弱点。

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