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Reading and Language Disorders: The Importance of Both Quantity and Quality

机译:阅读和语言障碍:数量和质量的重要性

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摘要

Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a genetic basis, but we expect the contributing genetic factors to be complex in nature. To date, only a few genes have been implicated in these traits. Their functional characterization has provided novel insight into the biology of neurodevelopmental disorders. However, the lack of biological markers and clear diagnostic criteria have prevented the collection of the large sample sizes required for well-powered genome-wide screens. One of the main challenges of the field will be to combine careful clinical assessment with high throughput genetic technologies within multidisciplinary collaborations.
机译:阅读和语言障碍是常见的儿童期疾病,常常彼此并存,并伴有其他神经发育障碍。有充分的证据表明,阅读障碍和特定语言障碍(SLI)等疾病具有遗传基础,但我们希望造成遗传的因素在本质上是复杂的。迄今为止,只有少数基因与这些性状有关。他们的功能表征提供了神经发育障碍生物学的新见解。但是,由于缺乏生物标记物和明确的诊断标准,因此无法收集功能强大的全基因组筛选所需的大样本量。该领域的主要挑战之一将是在多学科合作中将仔细的临床评估与高通量遗传技术相结合。

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