Gene x gene and gene x environment interactions underlying speech, language and reading development

大约5%的学童在阅读技能和语言发展方面有困难，这不是由于智力低下或教育机会不足。这些问题被称为特殊阅读障碍（诵读困难）和特殊语言障碍（SLI）。对于这两种疾病，有证据表明遗传和环境因素可能共同起作用。研究进展现已确定了其中几个遗传和环境性质的因素。这项研究的目的是为了测试不同的风险因素如何相互作用，从而导致阅读障碍和SLI，因为我们想找到一个复杂的拼图游戏的许多部分的正确顺序。我们将在ALSPAC样本中进行研究，这是一个大型项目，收集了10多个广泛的各种信息，1991年至1992年期间在英格兰西南部出生的1000名儿童。我们将能够在ALSPAC样本中结合联合收割机研究的所有变量。我们可以利用这些孩子的DNA进行基因分析，我们可以获得他们在语言和阅读技能方面的分数，以及他们成长环境的相关信息。我们将能够查看从饮食细节到儿童在婴儿期可以接触的书籍数量的数据。这项研究调查了易感因素的特定组合与语言和阅读技能的明确测量结果之间是否存在联系。其目的是确定儿童的亚组，为他们设计更有针对性的，因此，更有效的干预治疗。该项目还将有助于制定这些疾病的早期诊断战略，这对实施干预方案至关重要。例如，阅读障碍目前是在儿童在学校接触书面语言时被诊断出来的，通常为时已晚，无法开始成功的治疗。检测易感遗传因素、环境暴露及其相互作用将有助于确定那些可能受益于接受专门帮助的学龄前儿童。识别增加发展阅读障碍或SLI的可能性的环境因素也可能对预防产生重要影响。最终，这个项目将有助于我们理解行为和认知的潜在机制。

About 5% of school-children have difficulties with reading skills and development of language that are not due to low intelligence or inadequate educational opportunity. These problems are called specific reading disability (dyslexia) and specific language impairment (SLI). For both disorders there is evidence for contribution from both genetic and environmental factors that probably have to act together. Research advances have now identified several of these factors of both genetic and environmental nature. The aim of this proposal is to test how different risk factors interact with one another in order to cause dyslexia and SLI, as we wanted to find the correct order for the many pieces of a complicated jigsaw puzzle.We will carry out our research in the ALSPAC sample, a large project that has collected an extensive variety of information on more than 10,000 children born in Southwest England between 1991-92. We will be able to combine all the variables of our study in the ALSPAC sample. We can use the DNA from the children for genetic analysis, and we can access their scores on measures of language and reading skills, together with the relevant information about the environment where they are growing up. We will be able to look at data ranging from diet details to the number of books the children could access during their infancy.This research investigates whether there is a connection between specific combinations of predisposing factors and performance in well-defined measures of language and reading skills. The aim is to identify sub-groups of children for whom it will be possible to design more targeted and, therefore, more effective intervention therapies. This project will also contribute to develop strategies for early diagnosis of these disorders, which is fundamental to the implementation of intervention programs. For example, dyslexia is currently diagnosed when children are exposed to written language at school, often too late to start a successful theraphy. The detection of predisposing genetic factors, environmental exposures and their interplay will help to identify those children of pre-school age who might benefit from receiving specialised help. The identification of environmental factors that increase the likelihood of developing dyslexia or SLI might also have an important impact on prevention. Ultimately, this project will contribute to our understanding of the mechanisms underlying behaviour and cognition.