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较低，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认识，以及时间和资源的限制。建议数 辅助社将开始通过参与建立社区关系的活动和 建立信任，目标是获得更多种族、种族和地理多样性的样本。首先，我们 将添加一名招聘协调员，他是我们来自的代表性不足社区之一的成员 将会招募。然后，征聘协调员将(A)组建一个由以下人员组成的社区咨询小组 利益相关者(例如，来自目标社区的父母、专业人员和自我倡导者)提供建议和 关于招聘战略的反馈，以及b)编制和分发符合文化背景的招聘材料 更多样化的受众(如专家小组所确定的)。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患者加入 父项目(总样本量=500)。建议补充的父项目的目的 将有助于检验三种著名的自闭症谱系障碍的信度、效度和变异性 (ASD)在6至18岁DS患者的全国样本中进行大规模、多样化的症状测量。我们将利用 来自这些ASD测量的数据，以及额外的深层表型，以表征 DS并存的ASD表型，并识别症状特征。此外，一个探索性的目标是 ASD风险高或低的亚样本(n=25)将检查收集远程评估方法的可行性 直接、基于绩效的ASD评估。该项目产生的数据将增强临床试验准备情况 通过在DS中提供ASD措施，可以(A)筛查ASD风险以确定候选治疗，(B)分层 通过ASD症状特征对队列进行监测，以及(C)通过这些特征监测治疗反应。探索性的 可行性研究将确定远程评估在多大程度上可以用于基于绩效的ASD 对DS儿童的评估。所获得的知识将为远程进行临床试验做好准备， 这将改善不同地理、种族和民族社区获得医疗服务的机会。一起， 母项目和补编涉及包括NIH和NICHD IDD处多个优先事项，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) 明确DS患者共发病情况的表现和进程，以及(C)改善 各方面的研究。我们将鼓励所有在我们研究中注册的家庭注册DS-Connect，从而 扩大这一数据库及其注册者的多样性。我们还将使用我们社区提供的反馈 咨询小组，为未来的研究研究设计和材料提供信息，以便更好地包容不同的人群。