Evaluating ASD Symptomatology in Children with Down Syndrome

评估唐氏综合症儿童的 ASD 症状

• 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
• 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

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 尽管继续呼吁在唐氏综合症（DS）的个体研究样本中增加多样性 以及其他神经发育障碍，研究人员在获得这些样本方面的成功是有限的。原因 不同参与者的入学人数低包括历史性科学不公正，不信任，缺乏文化敏感的 有关研究过程以及时间和资源限制的信息和认识。提议 补充将开始通过从事建立社区关系的活动来解决这些障碍， 建立信任，目的是在种族，种族和地理上获得多样化的样本。首先，我们 将添加一个招聘协调员，该协调员是我们从中提供的代表人数不足的社区之一 会招募。然后，招聘协调员将（a）组装一个由社区咨询小组组成 利益相关者（例如，来自目标社区的父母，专业人士和自我顾问）提供建议和 有关招聘策略的反馈，b）为文化定制的招聘材料创建和分发 观众更加多样化（由面板确定）。拟议的补充剂的总体目标是 至少有150名来自种族，种族和地理上不同背景的DS的人 父项目（总样本量= 500）。拟议补充剂的母公司项目的目的 将贡献的是检查三种著名自闭症谱系障碍的可靠性，有效性和可变性 （ASD）在具有DS的6至18岁的大型全国样本中进行的症状测量。我们将利用 来自这些ASD措施的数据以及其他深层表型，以表征 DS中共同出现的ASD表型并识别症状特征。此外，在一个探索目标中 高或低ASD风险下的子样本（n = 25）将检查电信方法收集的可行性 直接，基于性能的ASD评估。该项目产生的数据将增强临床试验准备就绪 通过在DS中提供ASD措施（a）屏幕（a）ASD风险识别治疗候选者的风险，（b）分层 通过ASD症状谱的队列，以及（c）监测这些特征跨这些治疗的反应。探索性 可行性研究将确定可用于基于绩效的ASD的电信评估的程度 DS儿童的评估。获得的知识将为远程进行临床试验的领域做好准备， 这将改善各个地理，种族和种族多元化社区的护理机会。一起， 家长项目和补充地址多个NIH包括和NICHD IDD分支机构优先级，尤其是 （a）通过测试临床结果评估措施来增加临床试验成功的可能性，（b） 定义DS患者中共同发生条件的表现和过程，（c）改善多样性 研究的各个方面。我们将鼓励所有参加我们研究的家庭与DS连接注册，从而 扩展该数据库及其注册人的多样性。我们还将使用社区提供的反馈 咨询小组为未来的研究设计和材料提供信息，以更加包含不同的人群。