Early Pathways to Independence in numeracy for Children with GEnetic Syndromes - EPIC GENS

基本的计算能力是独立生活的关键，从理解金钱、管理财务预算、准时到达公交车站等重要任务，到就业机会，都是如此。我们目前对计算能力的理解来自于典型的神经样本；这些模型没有考虑到神经多样性。换句话说，目前的模式培育了放弃多样性的神经典型教育（NERD）。让神经分化儿童得不到充分的研究是非常有问题的：它违背了政府的包容性政策，它限制了干预的好处，因为我们无法改善我们不了解的东西。第二个问题是，我们不了解影响计算能力的多种因素（如语言、空间和执行能力）之间的相互作用，因为目前的研究都是孤立地关注它们。最后，早期计算理论没有纳入对环境影响的理解（例如，非正式的指导，在家庭和学校接触和参与与数学相关的活动）。我们将通过追踪早期算术途径来解决这三个差距，特别是针对那些接受早期遗传诊断的儿童，这些诊断使他们处于低算术结果的高风险中。我们的最终目标是根据儿童和环境水平的特征和神经分化儿童早期计算能力的预测因素，产生必要的证据，以便所有幼儿都能理解、优化计算能力，并在以后培养独立能力。在生命早期发现患有遗传综合征的儿童为通往困难和成功的道路提供了一个非常有力的模式。这些途径可以从诊断中进行前瞻性研究，并为早期干预提供宝贵的机会。从公平和多样性的角度来看，这些儿童也是一个弱势群体，目前没有像其他弱势群体那样得到科学关注。我们过去和正在进行的参与性工作强调，有必要了解这些儿童在计算能力方面独立的早期途径，因为如果他们无法达到基本的计算能力，他们以后在经济独立方面面临的风险很高。在这个项目中，我们将重点关注三种特殊教育需要和残疾遗传综合征（SEND）：脆性X综合征，FXS（最常见的遗传遗传形式的智力残疾），唐氏综合征，DS（最常见的遗传综合征）和威廉姆斯综合征，WS（一种罕见的综合征，但在出生时可识别）。我们之所以选择这些群体，是因为他们的风险特征不同，但也有重叠，比自闭症或多动症的诊断要早得多（允许研究从小学入学开始或之前开始），他们后来计算失败的风险很高，参与性科学努力强调理解计算基础是后来独立的关键。受我们的开放和参与科学方法的更广泛影响，我们将解决以下具体问题：有早期遗传诊断的儿童在小学阶段的早期计算能力特征是什么？这些特征与他们在语言、执行、空间和运动技能方面的认知优势和劣势有什么关系？支持或阻碍遗传综合征儿童早期计算能力的学校环境有哪些共同特征？对于我们的每个目标群体来说，共同的和独特的环境适应在多大程度上是足够的？3. 这些认知和环境因素如何预测一年后所有这些孩子在小学算术方面的风险和成功？该项目的长期影响将是对早期计算能力的更全面的理解，以及为神经分化儿童设计更好的量身定制学习机会所需的证据。

Basic numeracy is key to independent living, from tasks as important as understanding money and managing one's financial budget or getting to the bus stop on time, to employment opportunities. Our current understanding of numeracy is drawn from neurotypical samples; these models do not take into account neurodiversity. In other words, current models foster Neurotypical Education that Renounces Diversity (NERD). Leaving neurodivergent children understudied is highly problematic: it counters the Government's inclusivity policy, and it limits the benefits of interventions because we cannot improve what we do not understand. A second problem is that we do not understand the interplay between multiple contributors to numeracy (e.g., language, spatial and executive skills), because current studies have focused on them in isolation. Finally, theories of early numeracy have not incorporated an understanding of environmental contributions (e.g., informal instruction, exposure to and engagement with mathematics-related activities at home and school). We will address these three gaps by tracing early numeracy pathways specifically for children who receive early genetic diagnoses that put them at high risk for low numeracy outcomes. Our ultimate goal is to generate the necessary evidence base on child- and environment-level profiles and predictors of early numeracy for neurodivergent children, so that numeracy can be understood, optimized and later independence fostered for all young children. Children with genetic syndromes identified early in life provide a highly powerful model of pathways to difficulties and successes. These pathways can be studied prospectively from diagnosis and offer an invaluable window of opportunity for early intervention. From an equity and diversity perspective, these children are also a vulnerable category that currently does not receive scientific attention on par with other disadvantaged groups. Our past and ongoing participatory work highlights the need to understand early pathways to independence in numeracy for these children in particular, given the high risk they suffer later in terms of financial independence if they cannot reach basic numeracy competencies. For this project, we will focus on three genetic syndromes with Special Educational Needs and Disability (SEND): fragile X syndrome, FXS (most common genetically inherited form of intellectual disability), Down syndrome, DS (most common genetic syndrome) and Williams syndrome, WS (a rarer syndrome, however identifiable at birth). We chose these groups because of their differing but also overlapping risk profiles and much earlier diagnosis than autism or ADHD (allowing research to commence from or before primary school entry), their high reported risk of later numeracy failures, and participatory science efforts highlighting that understanding the foundations of numeracy is key to later independence. Influenced more broadly by our Open and Participatory Science approach, we will address the following specific questions:1. What are the characteristics of early numeracy for children with early genetic diagnoses across the primary school years, and how do these characteristics relate to their cognitive strengths and weaknesses across language, executive, spatial and motor skills?2. What are the common characteristics of school environments that support or hinder early numeracy in children with genetic syndromes? To what extent are common vs. unique environmental adaptations for each of our target groups sufficient? 3. How do these cognitive and environmental factors predict risk and successes in primary school numeracy a year later for all these children?The long-term impact of the project will be both a more inclusive understanding of early numeracy and the evidence needed to design better tailored learning opportunities for neurodivergent children.