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.

摘要 该项目旨在推进自闭症谱系障碍（ASD）的早期筛查程序 唐氏综合症（Down Syndrome，DS）共同发生的ASD是一种终身疾病， 影响DS患者的生活质量、适应性和护理成本。缺乏 对患有DS的幼儿早期发育的系统研究， 阻碍了识别ASD高危人群的努力。目前缺乏早期 检测意味着患有DS+ASD的儿童不能从发育信息中受益， 为一般幼儿提供的预期早期干预措施 关于ASD该项目将通过检查两个指标来确定DS中ASD风险的标志物， 领域：（1）幼儿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）存在候选生物医学风险状况，包括早产， 低出生体重、婴儿痉挛（West综合征）、先天性心脏缺陷、睡眠 失调和胃肠道疾病。我们将描述发育概况， 生物医学条件和ASD症状表现全面在225队列 在三个数据波中患有DS的幼儿（第1波：18-21个月;第2波：30-33个月 第3波：42-45个月）。然后，我们将模拟发展之间的关系 和生物医学因素在波1和2和ASD介绍波3通过混合 建模，以确定后期ASD结果的最强早期预测因子。基于这些 分析，我们将为患有ASD的儿童提供ASD筛查方案的建议。 DS年龄为18至45个月。这项研究的结果将直接解决NIH的问题， 改善DS患者的健康和福祉的目标。