Development and Validation of the Down Syndrome Regression Rating Scales

项目摘要 唐氏综合征回归障碍(DSRD)是一种日益引起人们关注的严重神经精神综合征 在唐氏综合症(DS)社区和包括唐氏综合症研究计划。青少年 成人DSRD与认知和适应功能亚急性下降、情绪和 紧张症，高危时期在10岁到30岁之间。症状会导致严重的残疾 丧失参与日常生活活动的能力，给父母和照顾者造成很大负担。 如果不及时治疗，DSRD可能会持续数年。推荐的医疗评估成本很高，而且 专家寥寥无几，这使得一些人难以获得适当的治疗，而另一些人则无法获得。 在关于DSRD的流行率和原因的研究方面也存在重大差距，部分原因是缺乏 大规模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，改进研究。 本研究旨在收集青少年和青壮年DS患者的队列，并开发DS- 回归评级表(DSRRS)，这是一种家长报告形式，将有助于评估和进步 DSRD的病因和治疗的系统研究。为了实现这一点，我们将使用一个利益相关者- 知情的方法，聚集了600名患有和不患有DSRD的青少年和年轻人的队列。 我们将通过重点小组、预测试和项目减少的迭代过程来开发DSRRS。我们 将对照经过充分验证的与DSRD相关的症状评估来验证新创建的量表 (例如，压力、适应功能、紧张症)，检查重测信度，并检查灵敏度和 特异度，以优化建议的截止分数。 该项目符合包括唐氏综合症研究计划中确定的几个优先事项 (第13-14页)。这些工具将为未来几年旨在识别 患病率和病因，DSRD背后的基因-大脑-行为联系，以及最重要的， 确定预防和干预策略，以改善有DSRD风险的DS患者的生活。

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.