Autism in Young Children with Down Syndrome

患有唐氏综合症的幼儿患有自闭症

• 批准号: 10735533
• 负责人: Nicole Baumer
• 金额: $ 127.5万
• 依托单位: COLORADO STATE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2028-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10735533
• 关键词: 1 year old; Accounting; Adaptive Behaviors; Address; Age; Area; Behavior; Child; Clinical; Cognition; Communication; Communities; Congenital Heart Defects; Consensus; Data; Data Coordinating Center; Development; Diagnosis; Dimensions; Down Syndrome; Early Diagnosis; Early Intervention; Early identification; Eligibility Determination; Epilepsy; General Population; Growth; Health; Individual; Infantile spasms; Intellectual functioning disability; Low Birth Weight Infant; Measures; Medical; Modeling; Mosaicism; Motor Skills; Outcome; Personal Satisfaction; Persons; Phenotype; Population; Premature Birth; Preventive; Probability; Prospective cohort; Provider; Quality of life; Recommendation; Recording of previous events; Research; Research Personnel; Research Project Grants; Risk; Risk Factors; Risk Marker; Science; Screening procedure; Sleep Disorders; Sleep disturbances; Specificity; Symptoms; Testing; United States National Institutes of Health; Work; autism spectrum disorder; autistic children; biomarker identification; care costs; clinical care; cohort; community based participatory research; design; disorder risk; early childhood; early onset; early screening; gastrointestinal; improved; indexing; information gathering; innovation; maladaptive behavior; neurogenetics; premature; recruit; response; screening; service intervention; sex; social communication; tool

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.

抽象的 该项目旨在推进自闭症谱系障碍 (ASD) 的早期筛查程序 患有唐氏综合症（DS）的幼儿。并发 ASD 是一种终生疾病， 影响 DS 患者的生活质量、适应能力和护理费用。缺乏 对 DS 幼儿早期发育的系统研究具有显着的意义 阻碍了识别自闭症谱系障碍高风险人群的努力。目前缺乏早期 检测意味着患有 DS+ASD 的儿童无法从发展信息中受益， 面向一般幼儿群体的预期早期干预措施 患有自闭症谱系障碍（ASD）。该项目将通过检查以下两项来确定 DS 中自闭症谱系障碍 (ASD) 风险的标记： 领域：（1）幼儿时期认知领域的发展表现， 沟通、运动技能、适应性行为和其他相关发展领域， (2) 存在候选生物医学风险状况，包括早产和 低出生体重、婴儿痉挛症（韦斯特综合征）、先天性心脏病、睡眠 调节失调和胃肠道疾病。我们将描述发展概况， 225 人队列中的生物医学状况和自闭症谱系障碍 (ASD) 症状表现 患有 DS 的幼儿跨越三个数据波（第 1 波：18-21 个月；第 2 波：30-33 个月） 月；第 3 波：42-45 个月）。然后我们将模拟发展之间的关系 第 1 波和第 2 波的生物医学因素以及第 3 波的 ASD 表现（通过混合） 建模以确定后来 ASD 结果的最强早期预测因素。基于这些 分析后，我们将为患有自闭症谱系障碍（ASD）儿童的筛查方案提出建议 DS 年龄为 18 至 45 个月。这项研究的结果将直接涉及 NIH INCLUDE 改善 DS 患者的健康和福祉的目标。