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携带脆性X突变女性的认知行为特征。

Cognitive-behavioral profiles of females with the fragile X mutation.

作者信息

Fisch Gene S

机构信息

Yeshiva University, New York, New York 10031, USA.

出版信息

Am J Med Genet A. 2006 Apr 1;140(7):673-7. doi: 10.1002/ajmg.a.31113.

DOI:10.1002/ajmg.a.31113
PMID:16477608
Abstract

The fragile X (FRAXA) mutation is typically manifested as either a full mutation (FM) or premutation (PM), and is often associated with some form of learning impairment. The study by Lachiewicz et al. in this issue suggests that females with the FM or PM exhibit a specific profile of strengths in verbal abilities and significant weaknesses in quantitative skills. We examined 17 females with either the FM or PM using a standard cognitive-behavioral battery consisting of the Stanford-Binet (4th Edition; SBFE) and the Vineland Adaptive Behavior Scale (VABS). Although we found the expected differences in composite IQ scores and adaptive behavior composite scores (DQ) between FM and PM females, we found no significant differences between verbal and quantitative reasoning in either group.

摘要

脆性X(FRAXA)突变通常表现为完全突变(FM)或前突变(PM),且常与某种形式的学习障碍相关。Lachiewicz等人在本期发表的研究表明,患有FM或PM的女性在语言能力方面表现出特定的优势特征,而在定量技能方面则存在明显劣势。我们使用由斯坦福-比奈智力量表(第4版;SBFE)和文兰适应行为量表(VABS)组成的标准认知行为测试组,对17名患有FM或PM的女性进行了检查。尽管我们发现FM和PM女性在综合智商得分和适应行为综合得分(DQ)上存在预期差异,但在两组中,语言推理和定量推理之间均未发现显著差异。

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