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 尽管不断呼吁增加唐氏综合征（DS）个体研究样本的多样性， 和其他神经发育障碍，研究人员在获得这些样本方面的成功是有限的。原因 不同参与者的低入学率包括历史上的科学不公正，不信任，缺乏文化敏感性 关于研究过程的信息和意识，以及时间和资源的限制。拟议 补编将开始通过参与建立社区关系的活动来解决这些障碍， 建立信任，目标是获得一个在民族、种族和地理上更加多样化的样本。一是 我将增加一名招聘协调员，他是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， 利益相关者（例如，家长、专业人士和来自目标社区的自我倡导者）提供建议， 关于招聘战略的反馈意见，以及B）为下列人员编制和分发符合文化特点的招聘材料： 更多样化的受众（如小组所确定）。拟议补编的总体目标是 招募至少150名来自不同种族、种族和地理背景的DS患者， 父项目（总样本量= 500）。拟议补充的母项目的目的 将有助于研究的可靠性，有效性，和变异性的三个著名的自闭症谱系障碍 (ASD)症状措施在一个大的，不同的，国家样本的6至18岁的DS。我们将利用 来自这些ASD测量的数据，沿着额外的深度表型，以表征 在DS中共同发生的ASD表型，并确定症状谱。此外，一个探索性的目标， 高或低ASD风险的子样本（n = 25）将检查远程评估方法的可行性， 直接的、基于绩效的ASD评估。该项目产生的数据将提高临床试验准备程度 通过在DS中提供ASD测量，可以（a）筛查ASD风险以识别治疗候选者，（B）分层 通过ASD症状特征来监测组群，以及（c）监测这些特征对治疗的响应。探索性 可行性研究将确定远程评估在多大程度上可用于基于性能的ASD 对患有DS的儿童进行评估。所获得的知识将为远程进行临床试验做好准备， 这将改善在地理上、种族上和民族上多样化的社区获得医疗服务的机会。我们一起努力， 母项目和补充项目涉及国家卫生研究院INCLUDE和国家儿童健康和人类发展研究院IDD分支多个优先事项，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患者中共同发生的疾病的表现和过程，以及（c）提高 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注册， 扩大这一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，使其更加包容不同的人群。