Evaluating ASD Symptomatology in Children with Down Syndrome

评估唐氏综合症儿童的 ASD 症状

基本信息

批准号：
10592162
负责人：
Marie Moore Channell
金额：
$ 11.04万
依托单位：
UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-08-01 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10592162
关键词：
18 year old Address Advocate Area Awareness Behavior Behavioral Biometry COVID-19 pandemic Caregivers Characteristics Child Clinical Trials Communities Complex Conduct Clinical Trials Data Data Collection Databases Diagnostic Down Syndrome Enrollment Epidemiology Evaluation Family Feasibility Studies Feedback Future General Population Genetic Geography Goals Health Care Costs Health Services Accessibility Heterogeneity Improve Access Individual Intellectual functioning disability Intervention Knowledge Language Language Delays Longevity Measurement Measures Methods Monitor National Institute of Child Health and Human Development Neurodevelopmental Disorder Outcome Parents Participant Performance Phenotype Population Population Heterogeneity Positioning Attribute Process Psychometrics Questionnaires Relative Risks Reporting Research Research Design Research Personnel Resources Risk Sample Size Sampling Symptoms Testing Time Trust United States National Institutes of Health Universities autism spectrum disorder base behavioral phenotyping clinical outcome assessment clinical practice clinical trial readiness cohort comorbidity disorder risk ethnic diversity executive function improved individualized medicine inter-individual variation maladaptive behavior member neurodevelopment parent project performance based measurement racial diversity recruit research study screening social social communication sound success symptomatology tool treatment response

项目摘要

PROJECT ABSTRACT Despite continued calls for increased diversity in research samples of individuals with Down syndrome (DS) and other neurodevelopmental disorders, researcher success in obtaining these samples is limited. Reasons for low enrollment of diverse participants include historic scientific injustices, mistrust, lack of culturally sensitive information and awareness about the research process, and time and resources constraints. The proposed supplement will begin to address these barriers by engaging in activities to build community relationships and establish trust, with the goal of obtaining a more ethnically, racially, and geographically diverse sample. First, we will add a recruitment coordinator who is a member of one of the underrepresented communities from which we will recruit. Then, the recruitment coordinator will (a) assemble a community advisory panel comprised of stakeholders (e.g., parents, professionals, and self-advocates from targeted communities) to provide advice and feedback about recruitment strategies, and b) create and distribute culturally tailored recruitment materials for more diverse audiences (as identified by the panel). The overarching goal of the proposed supplement is to enroll at least 150 individuals with DS from ethnically, racially, and geographically diverse backgrounds into the parent project (total sample size = 500). The purpose of the parent project to which the proposed supplement will contribute is to examine the reliability, validity, and variability of three well-known autism spectrum disorder (ASD) symptom measures in a large, diverse, national sample of 6- to 18-year-olds with DS. We will leverage data from these ASD measures, along with additional deep phenotyping, to characterize the heterogeneity of the co-occurring ASD phenotype in DS and identify symptom profiles. Additionally, an exploratory aim among a subsample (n = 25) at high or low ASD risk will examine the feasibility of tele-assessment methods for gathering direct, performance-based ASD evaluations. Data generated from this project will enhance clinical trial readiness by providing ASD measures in DS that can (a) screen for ASD risk to identify candidates for treatment, (b) stratify cohorts by ASD symptom profiles, and (c) monitor response to treatment across these profiles. The exploratory feasibility study will determine the extent to which tele-assessments can be used for performance-based ASD evaluations in children with DS. The knowledge gained will prepare the field for conducting clinical trials remotely, which will improve access to care across geographically, racially, and ethnically diverse communities. Together, the parent project and supplement address multiple NIH INCLUDE and NICHD IDD Branch priorities, especially (a) increase the likelihood of clinical trial success through testing of clinical outcome assessment measures, (b) define the presentation and course of co-occurring conditions in individuals with DS, and (c) improve diversity in all aspects of research. We will encourage all families who enroll in our study to register with DS-Connect, thus expanding this database and the diversity of its registrants. We will also use feedback provided by our community advisory panel to inform future research study designs and materials to be more inclusive of diverse populations.

项目摘要尽管人们不断呼吁增加唐氏综合症 (DS) 患者研究样本的多样性和其他神经发育障碍，研究人员获得这些样本的成功是有限的。原因多元化参与者的入学率低，包括历史上的科学不公正、不信任、缺乏文化敏感性有关研究过程以及时间和资源限制的信息和认识。拟议的补充品将开始通过开展建立社区关系的活动来解决这些障碍建立信任，目的是获得种族、种族和地理上更加多样化的样本。首先，我们将添加一名招聘协调员，他是我们所在社区中代表性不足的社区之一的成员将招募。然后，招聘协调员将 (a) 组建一个社区咨询小组，其成员包括利益相关者（例如，家长、专业人士和目标社区的自我倡导者）提供建议和有关招聘策略的反馈，以及 b) 为以下人员创建和分发适合文化的招聘材料：更多样化的受众（由专家组确定）。拟议补充的总体目标是招募至少 150 名来自种族、种族和地理背景的 DS 患者加入父项目（总样本量 = 500）。拟议补充的母项目的目的将有助于检查三种著名的自闭症谱系障碍的可靠性、有效性和变异性（ASD）针对 6 至 18 岁 DS 患者的大量、多样化的全国样本进行症状测量。我们将利用来自这些 ASD 测量的数据，以及额外的深度表型分析，来表征 DS 中同时出现的 ASD 表型并确定症状概况。此外，一个探索性目标高或低 ASD 风险的子样本（n = 25）将检查远程评估方法收集的可行性直接的、基于绩效的 ASD 评估。该项目生成的数据将增强临床试验的准备情况通过在 DS 中提供 ASD 测量，可以 (a) 筛查 ASD 风险以确定治疗候选者，(b) 分层根据自闭症谱系障碍 (ASD) 症状特征对队列进行分组，(c) 监测这些特征对治疗的反应。探索性的可行性研究将确定远程评估可在多大程度上用于基于绩效的 ASD DS 儿童的评估。获得的知识将为远程进行临床试验做好准备，这将改善不同地域、种族和族裔社区获得护理的机会。一起，父项目和补充解决了多个 NIH INCLUDE 和 NICHD IDD 分支的优先事项，特别是 (a) 通过测试临床结果评估措施增加临床试验成功的可能性，(b) 定义 DS 患者并发病症的表现和病程，以及 (c) 提高 DS 患者的多样性研究的各个方面。我们将鼓励所有参加我们研究的家庭在 DS-Connect 上注册，从而扩大该数据库及其注册者的多样性。我们还将使用社区提供的反馈顾问小组为未来的研究设计和材料提供信息，以更加包容不同的人群。