Development and Validation of the Down Syndrome Regression Rating Scales

唐氏综合症回归评定量表的开发和验证

• 批准号: 10781052
• 负责人: Ruth C Brown
• 金额: $ 80.93万
• 依托单位: VIRGINIA COMMONWEALTH UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-20 至 2028-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10781052
• 关键词: Activities of Daily Living; Acute; Address; Adolescent; Adolescent and Young Adult; Adult; Affect; Assessment tool; Benchmarking; Caregivers; Catatonia; Clinic; Clinical; Cognitive; Cohort Studies; Communities; Complex; Consensus; Consumption; Country; Data Collection; Delphi Study; Detection; Development; Diagnosis; Diagnostic tests; Disease; Down Syndrome; Emotional; Enrollment; Ensure; Etiology; Evaluation; Exhibits; Factor Analysis; Family; Feedback; Financial Hardship; Focus Groups; Funding; Genes; Individual; Intervention; Measurement; Measures; Medical; Mental Depression; Modeling; Monitor; Moods; National Institute of Child Health and Human Development; National Institute of Mental Health; Needs Assessment; Outcome Measure; Parents; Patients; Persons; Pharmaceutical Preparations; Phenotype; Physicians; Prevalence; Prevention strategy; Process; Provider; Psychopathology; Public Health; Recommendation; Recording of previous events; Reporting; Research; Research Personnel; Risk; Sampling; Sensitivity and Specificity; Services; Specialist; Specificity; Stress; Structure; Symptoms; Syndrome; Testing; Time; Travel; Treatment outcome; Validation; associated symptom; brain behavior; clinical care; cognitive function; cognitive interview; cohort; cost; diagnostic accuracy; diagnostic criteria; disability; disorder risk; executive function; experience; externalizing behavior; high risk; improved; indexing; insurance claims; interest; motor symptom; neuropsychiatry; novel; recruit; resilience; screening; skills; tool; treatment response

Project Summary Down Syndrome Regression Disorder (DSRD) is a serious neuropsychiatric syndrome that is of growing interest among the Down syndrome (DS) community and the INCLUDE Down Syndrome Research Plan. Adolescent and adult DSRD is associated with a subacute decline in cognitive and adaptive functioning, mood, and catatonia, with the highest risk period between 10 and 30 years old. Symptoms cause severe disability in the form of loss of ability to participate in activities of daily living and cause a great burden on parents and caregivers. Without prompt treatment, DSRD may persist for years. Recommended medical evaluation is costly and specialists are few and far between, making appropriate treatment difficult for some and inaccessible for others. There are also significant gaps in research on the prevalence and causes of DSRD, due in part to the lack of scalable assessments in large DS cohorts. Validated low-burden assessments are needed to identify patients, monitor treatment response, and improve research. This study aims to assemble a cohort of adolescents and young adults with DS and develop the DS- Regression Rating Scale (DSRRS), a parent-report form, which will aid in assessment and advance systematic research on the etiology and treatment of DSRD. To accomplish this, we will use a stakeholder- informed approach to assemble a cohort of 600 adolescents and young adults with DS, with and without DSRD. We will develop the DSRRS through an iterative process of focus groups, pre-testing, and item reduction. We will validate the newly created scale against well-validated assessments of symptoms associated with DSRD (e.g., stress, adaptive functioning, catatonia), examine the test-retest reliability, and examine sensitivity and specificity to optimize recommended cutoff scores. This project is in line with several priorities identified in the INCLUDE Down Syndrome Research Plan (pp. 13 – 14). These tools will lay the groundwork for vital research for years to come aimed at identifying the prevalence and etiologies, the gene-brain-behavior connections underlying DSRD, and most importantly, the identification of prevention and intervention strategies to improve the lives of people with DS at risk for DSRD.

项目摘要 唐氏综合征退行性障碍（DSRD）是一种严重的神经精神综合征，越来越受到人们的关注 唐氏综合症（DS）社区和包括唐氏综合症研究计划。青少年 成人DSRD与认知和适应功能、情绪和 紧张症，最高风险期为10至30岁。症状导致严重残疾， 这是一种丧失参与日常生活活动能力的形式，给父母和照顾者造成巨大负担。 如果不及时治疗，DSRD可能持续多年。推荐的医疗评估费用昂贵， 专科医生稀少，使一些人难以得到适当的治疗，另一些人则无法得到治疗。 关于荒漠化和退化障碍的流行率和原因的研究也存在重大差距，部分原因是缺乏 在大型DS队列中进行可扩展评估。需要经过验证的低负担评估来识别患者， 监测治疗反应，改善研究。 本研究的目的是收集一组青少年和年轻成人与DS和发展DS- 回归评定量表（DSRRS），家长报告表，这将有助于评估和推进 系统研究DSRD的病因和治疗。为了实现这一点，我们将使用一个利益相关者- 知情的方法来收集600名患有DS的青少年和年轻成年人的队列，有和没有DSRD。 我们将通过焦点小组、预测试和项目缩减的迭代过程来开发DSRRS。我们 将根据对DSRD相关症状的充分验证评估来验证新创建的量表 (e.g.,压力，适应功能，紧张症），检查重测信度，并检查敏感性和 特异性，以优化推荐的临界值。 该项目符合INCLUDE唐氏综合症研究计划中确定的几个优先事项 （第100页）第13至14段）。这些工具将为未来几年旨在确定 患病率和病因学，DSRD背后的基因-大脑-行为联系，最重要的是， 确定预防和干预策略，以改善有DSRD风险的DS患者的生活。