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童年中期和青春期早期持续性特定学习障碍三种表型特征的生物标志物模式:一项初步研究。

Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.

作者信息

Abbott Robert D, Raskind Wendy H, Matsushita Mark, Price Nathan D, Richards Todd, Berninger Virginia W

机构信息

University of Washington, Quantitative Studies and Measurement, USA.

University of Washington, Medicine, USA.

出版信息

Biomark Genes. 2017 Dec;1(1). Epub 2017 Jun 19.

Abstract

Students without specific learning disabilities [SLDs] [=18] and with one of three persisting SLDs in written language despite early and current specialized instruction-Dysgraphia [=21], Dyslexia [=40], or oral and written language learning disability OWL LD [=14]- in grades 4 to 9 [=56 boys, 38 girls] completed behavioral phenotyping assessment and gave a small blood or saliva sample. Molecular analyses informed by current cross-site research on gene candidates for learning disabilities identified associations between molecular genetic markers and the two defining behavioral phenotypes for each SLDs-WL; dysgraphia [impaired writing alphabet from memory for rs3743204 and sentence copying in best handwriting for rs79382 both in DYX1C1], dyslexia [impaired silent word reading/decoding rate for rs4535189 in DCDC2 and impaired spelling/encoding for rs374205 in DYX1C1], and OWL LD [impaired aural syntax comprehension for rs807701 and oral syntax construction for rs807701 both in DYX1C1]. Implications of these identified associations between molecular markers for alleles for different sites within two gene candidates [and mostly one] and hallmark phenotypes are discussed for translation science [application to practice] and neuroimaging that has identified contrasting brain bases for each of the three SLDs.

摘要

4至9年级的学生(无特定学习障碍[SLD]的学生[=18名]以及尽管接受了早期和当前的专业指导但仍存在三种持续性书面语言学习障碍之一的学生——书写障碍[=21名]、诵读困难[=40名]或口头和书面语言学习障碍[OWL LD][=14名],其中男生56名,女生38名)完成了行为表型评估,并提供了少量血液或唾液样本。当前关于学习障碍基因候选者的跨站点研究为分子分析提供了依据,该研究确定了分子遗传标记与每种SLD的两种定义性行为表型之间的关联——书面语言障碍;书写障碍(在DYX1C1基因中,rs3743204位点的记忆书写字母受损,rs79382位点的最佳手写句子抄写受损)、诵读困难(在DCDC2基因中,rs4535189位点的默读单词阅读/解码率受损,在DYX1C1基因中,rs374205位点的拼写/编码受损)以及OWL LD(在DYX1C1基因中,rs807701位点的听觉句法理解受损,rs807701位点的口头句法构建受损)。针对转化科学(应用于实践)和神经成像(已确定三种SLD各自不同的脑基础),讨论了在两个基因候选者(大多数情况下为一个)内不同位点的等位基因分子标记与标志性表型之间这些已确定关联的意义。

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