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携带FMR1前突变的成年女性的词汇检索困难:随时间和情境的变化

Word retrieval difficulty in adult females with the FMR1 premutation: Changes over time and across contexts.

作者信息

Bredin-Oja Shelley L, Warren Steven F, Swinburne Romine Rebecca E, Fleming Kandace K, Brady Nancy, Berry-Kravis Elizbeth

机构信息

Life Span Institute, University of Kansas, 1052 Dole Human Development Center, 1000 Sunnyside Avenue, Lawrence, KS 66045, USA.

Life Span Institute, University of Kansas, 1052 Dole Human Development Center, 1000 Sunnyside Avenue, Lawrence, KS 66045, USA; Department of Speech-Language-Hearing: Sciences and Disorders, University of Kansas, 3001 Dole Human Development Center, 1000 Sunnyside Avenue, Lawrence, KS 66045, USA.

出版信息

Brain Cogn. 2021 Mar;148:105694. doi: 10.1016/j.bandc.2021.105694. Epub 2021 Jan 24.

DOI:10.1016/j.bandc.2021.105694
PMID:33503544
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7928209/
Abstract

Individuals with a premutation of the fragile X mental retardation (FMR1) gene are at risk for a variety of psychological, physical, and cognitive issues, including difficulty with word retrieval. The present study examined three indicators of word retrieval difficulty; reduced productivity, reduced lexical diversity, and increased errors in word retrieval in a group of 38 female premutation carriers during standard-length speech samples collected over a period of eight years. Our results revealed that as women aged, they produced fewer words, produced fewer different words, and had greater word retrieval errors. In addition, the rate of word retrieval errors was highly correlated between two speaking contexts, indicating that this difficulty was pervasive and not solely the result of speaking in monologue. Our results suggest that subtle areas of cognitive decline emerge at a much earlier age among female premutation carriers than would be expected during healthy aging.

摘要

脆性X智力低下(FMR1)基因前突变的个体面临各种心理、身体和认知问题的风险,包括词汇提取困难。本研究在一组38名女性前突变携带者中,通过对长达八年收集的标准长度语音样本进行分析,考察了词汇提取困难的三个指标:产出率降低、词汇多样性降低和词汇提取错误增加。我们的结果显示,随着女性年龄增长,她们说出的单词数量减少,不同单词的数量减少,并且词汇提取错误更多。此外,两种说话情境下的词汇提取错误率高度相关,这表明这种困难具有普遍性,并非仅仅是独白时说话的结果。我们的结果表明,与健康衰老过程中预期的情况相比,女性前突变携带者在更早的年龄就出现了认知衰退的细微迹象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/d0b3d13349ea/nihms-1662833-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/40fb949822b6/nihms-1662833-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/709bd19fc1ef/nihms-1662833-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/551fca66d2cd/nihms-1662833-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/d0b3d13349ea/nihms-1662833-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/40fb949822b6/nihms-1662833-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/709bd19fc1ef/nihms-1662833-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/551fca66d2cd/nihms-1662833-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37b/7928209/d0b3d13349ea/nihms-1662833-f0004.jpg

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本文引用的文献

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Fragile X-Associated Neuropsychiatric Disorders (FXAND).脆性X染色体相关神经精神障碍(FXAND)
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