Autism in Young Children with Down Syndrome

摘要 该项目旨在推进自闭症谱系障碍(Asd)的早期筛查程序。 在患有唐氏综合征(DS)的幼儿中。共同发生的ASD是一种终生疾病， 影响DS患者的生活质量、适应能力和护理成本。缺乏 对DS儿童早期发育的系统研究具有重要意义 阻碍了识别ASD高危人群的努力。目前缺乏早期的 检测意味着患有DS+ASD的儿童不能从发育知情中受益， 为一般幼儿提供的预见性早期干预 患有自闭症。该项目将通过两项检查来确定DS中ASD风险的标志 领域：(1)儿童早期认知领域的发展呈现， 沟通、运动技能、适应行为和其他相关的发展领域， 以及(2)存在潜在的生物医学风险状况，包括早产和 低出生体重、婴儿痉挛(West综合征)、先天性心脏病、睡眠 调节失调，以及胃肠道疾病。我们将描述发展概况， 生物医学条件和ASD症状在225个队列中的综合表现 患有DS的幼儿跨越三个数据波(波1：18-21个月；波2：30-33 几个月；第三波：42-45个月)。然后我们将对发展与发展之间的关系进行建模 第一波和第二波的生物医学因素和第三波的ASD通过混合物呈现 建模以确定对晚期ASD结果最强的早期预测因素。基于这些 分析，我们将为患有自闭症的儿童生成筛查方案的建议 DS年龄18至45个月。这项研究的发现将直接针对美国国立卫生研究院，包括 旨在改善DS患者的健康和幸福感。

Abstract This project aims to advance early screening procedures for autism spectrum disorder (ASD) in young children with Down syndrome (DS). Co-occurring ASD is a lifelong condition that impacts quality of life, adaptation, and cost of care for individuals with DS. A lack of systematic research on early development in young children with DS has significantly hindered efforts to identify those at heightened risk for ASD. The current lack of early detection means that children with DS+ASD do not benefit from developmentally informed, anticipatory early interventions that are available to the general population of young children with ASD. This project will identify markers of ASD risk in DS with an examination of two areas: (1) developmental presentation during early childhood in the areas of cognition, communication, motor skills, adaptive behavior, and other relevant developmental domains, and (2) the presence of candidate biomedical risk conditions including premature birth and low birth weight, infantile spasms (West syndrome), congenital heart defects, sleep dysregulation, and gastrointestinal conditions. We will characterize developmental profiles, biomedical conditions, and ASD symptom presentation comprehensively in a cohort of 225 young children with DS across three data waves (Wave 1: 18-21 months; Wave 2: 30-33 months; Wave 3: 42-45 months). We will then model the relationship between developmental and biomedical factors at Waves 1 and 2 and ASD presentation at Wave 3 via mixture modeling to identify the strongest early predictors of later ASD outcomes. Based on these analyses, we will generate recommendations for ASD screening protocols for children with DS ages 18 to 45 months. Findings from this study will directly address the NIH INCLUDE objective of improving health and well-being for people with DS.