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细胞遗传学表达的脆性X女性的问题解决能力限制

Problem solving limitations among cytogenetically expressing fragile X women.

作者信息

Mazzocco M M, Hagerman R J, Pennington B F

机构信息

University of Colorado Health Sciences Center, Children's Hospital, Denver 80218-1088.

出版信息

Am J Med Genet. 1992;43(1-2):78-86. doi: 10.1002/ajmg.1320430112.

DOI:10.1002/ajmg.1320430112
PMID:1605239
Abstract

Neurocognitive deficits among fragile X individuals have been reported for both high and low functioning individuals. Recent findings from our research suggest a specific neurocognitive phenotype among fragile X women that is characterized by deficits on tests of frontal lobe functioning. In this paper, we examine in more detail the performance of 10 cytogenetically expressing women and 10 control women on 2 problem solving measures considered sensitive to frontal lobe functions: the Contingency Naming Test and the Tower of Hanoi. The results pertaining to each test suggest that fragile X women, relative to control women, are less able to solve a problem when the difficulty of the problem is increased by requiring simultaneous consideration of additional information. These findings have important implications for remediation strategies designed for affected fragile X individuals.

摘要

脆性X综合征患者中,无论是高功能还是低功能个体,均有神经认知缺陷的报道。我们研究的最新发现表明,脆性X综合征女性存在一种特定的神经认知表型,其特征是额叶功能测试存在缺陷。在本文中,我们更详细地研究了10名细胞遗传学确诊的女性和10名对照女性在两项被认为对额叶功能敏感的问题解决测试中的表现:偶然性命名测试和河内塔测试。与每项测试相关的结果表明,相对于对照女性,当通过要求同时考虑额外信息来增加问题难度时,脆性X综合征女性解决问题的能力较差。这些发现对为受影响的脆性X综合征个体设计的补救策略具有重要意义。

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Problem solving limitations among cytogenetically expressing fragile X women.细胞遗传学表达的脆性X女性的问题解决能力限制
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Am J Intellect Dev Disabil. 2016 Sep;121(5):448-60. doi: 10.1352/1944-7558-121.5.448.
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Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders.遗传性疾病小鼠模型的全面神经认知内表型策略。
Prog Neurobiol. 2012 Feb;96(2):220-41. doi: 10.1016/j.pneurobio.2011.12.001. Epub 2012 Jan 13.
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Longitudinal changes in intellectual development in children with Fragile X syndrome.
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J Abnorm Child Psychol. 2008 Aug;36(6):927-39. doi: 10.1007/s10802-008-9223-y. Epub 2008 Mar 18.
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Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome.脆性X综合征男性青少年的额颞叶功能障碍及潜在的代偿机制
Hum Brain Mapp. 2007 Jun;28(6):543-54. doi: 10.1002/hbm.20406.
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Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome.在脆性X综合征女孩中,按时间顺序排列的年龄而非FMRP水平可预测神经心理表现。
Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):468-72. doi: 10.1002/ajmg.b.30307.
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Autism: the point of view from fragile X studies.自闭症:来自脆性X综合征研究的观点
J Autism Dev Disord. 1998 Oct;28(5):393-405. doi: 10.1023/a:1026000404855.
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Autistic behaviors among girls with fragile X syndrome.脆性X综合征女童的自闭症行为
J Autism Dev Disord. 1997 Aug;27(4):415-35. doi: 10.1023/a:1025857422026.