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诵读困难症表型的家族聚集性。II:配对相关测量

Familial aggregation of dyslexia phenotypes. II: paired correlated measures.

作者信息

Hsu Li, Wijsman Ellen M, Berninger Virginia W, Thomson Jennifer B, Raskind Wendy H

机构信息

Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

出版信息

Am J Med Genet. 2002 May 8;114(4):471-8. doi: 10.1002/ajmg.10523.

Abstract

Dyslexia is a common and complex behavioral disorder characterized by unexpected difficulty in learning to read. Psychometric measures used to assess dyslexia often evaluate overlapping processes or abilities. To identify subphenotypes amenable to model-based linkage analyses, we have used careful language phenotyping, familial aggregation analyses of single phenotype measures, and segregation analyses. In the current study, to identify covariates to use in future segregation analyses we examined six pairs of related measures selected from among the most promising candidates in the initial aggregation analyses whose aggregation patterns were most consistent with a genetic basis. For these reciprocal aggregation analyses each measure is evaluated with the paired measure as the covariate to obtain information about the interdependence of the paired measures on shared genetic factors. Six pairs of measures were evaluated: 1) accuracy and efficiency of phonological decoding; 2) phonological nonword memory and written spelling; 3) phonological decoding accuracy and written spelling; 4) inattention ratings and rapid automatized naming for switching letters and numerals (RAS); 5) inattention ratings and oral reading rate; and 6) RAS and oral reading rate. Results of these analyses provide evidence that there may be a genetic contribution to efficiency of phonological decoding in addition to the genetic contribution it shares with accuracy of phonological decoding, a genetic contribution to phonological nonword memory in addition to the genetic contribution it shares with written spelling, a genetic contribution to written spelling in addition to the genetic contribution it shares with accuracy of phonological decoding, and a genetic contribution to inattention ratings in addition to the genetic contribution it shares with either RAS or oral reading rate.

摘要

阅读障碍是一种常见且复杂的行为障碍,其特征是在学习阅读方面存在意外的困难。用于评估阅读障碍的心理测量方法通常会评估重叠的过程或能力。为了识别适合基于模型的连锁分析的亚表型,我们采用了细致的语言表型分析、单一表型测量的家族聚集分析以及分离分析。在当前研究中,为了确定在未来分离分析中使用的协变量,我们检查了从初始聚集分析中最有前景的候选指标中选出的六对相关指标,这些指标的聚集模式与遗传基础最为一致。对于这些相互的聚集分析,每个指标都以配对指标作为协变量进行评估,以获取关于配对指标在共享遗传因素上的相互依赖性的信息。评估了六对指标:1)语音解码的准确性和效率;2)语音非词记忆和书面拼写;3)语音解码准确性和书面拼写;4)注意力不集中评分与切换字母和数字的快速自动命名(RAS);5)注意力不集中评分与口头阅读速度;6)RAS与口头阅读速度。这些分析结果提供了证据,表明除了与语音解码准确性共享的遗传贡献外,语音解码效率可能存在遗传贡献;除了与书面拼写共享的遗传贡献外,语音非词记忆可能存在遗传贡献;除了与语音解码准确性共享的遗传贡献外,书面拼写可能存在遗传贡献;除了与RAS或口头阅读速度共享的遗传贡献外,注意力不集中评分可能存在遗传贡献。

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