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

基本信息

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
项目类别：
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

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

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项目摘要

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.

项目摘要唐氏综合症回归障碍（DSRD）是一种严重的神经精神综合症，引起了人们的关注在唐氏综合症（DS）社区中，包括唐氏综合症研究计划。青少年成人DSRD与认知和适应性功能，情绪和 Catatonia，风险期最高，在10到30岁之间。症状导致严重的残疾参加日常生活活动的能力丧失形式，并对父母和看护人造成巨大的烧伤。如果没有及时的治疗，DSRD可能会持续多年。建议的医疗评估成本高昂，专家几乎没有彼此之间的距离很少，因此某些人难以进行适当的治疗，而其他人则无法获得。关于DSRD的患病率和原因的研究也有很大的差距，部分原因是缺乏大型DS队列中的可扩展评估。需要经过验证的低负担评估来识别患者，监测治疗反应并改善研究。这项研究旨在组装一群与DS的青少年和年轻人，并发展DS- 回归评级量表（DSRRS），一种父母报告表格，将有助于评估和进步 DSRD的病因和治疗的系统研究。为此，我们将使用利益相关者 - 知情的方法是组装成600名青少年和DS的年轻人，有和没有DSRD。我们将通过迭代焦点组，预测试和减少项目的迭代过程来开发DSRR。我们将验证与DSRD相关的症状的验证评估的新创建的量表（例如，压力，自适应功能，catatonia），检查测试可靠性，并检查灵敏度和优化建议的截止分数的特异性。该项目与包括唐氏综合症研究计划中确定的几个优先事项一致（第13 - 14页）。这些工具将为重要的研究奠定基础，以确定旨在确定患病率和病因，DSRD的基因 - 脑 - 行为连接，最重要的是，确定预防和干预策略，以改善DS患者的生活风险。