Change-sensitive Measurement of Adult Functional Outcomes in Developmental Disabilities

7.项目摘要/摘要 发育障碍(DD)，包括自闭症谱系障碍(ASD)、唐氏综合症、脆性X 综合征和其他智力和发育障碍是异质性神经发育 对个人、家庭和社会造成相当大负担的疾病。虽然大多数关于DD的研究 主要集中在儿童身上，这些疾病是终生的，几乎没有既定的治疗方法来支持 成人期。因此，许多患有痴呆症的成年人经历了以LOW为代表的严重功能障碍 就业率、严重的社会功能障碍和孤立，以及独立生活和生活能力有限 在成人生活中体验自主性。制定干预措施以改善成人的功能结果 DD的社会、就业和独立生活领域远远落后于为 孩子们。限制发展治疗以改善成人功能障碍的一个关键因素是缺乏 对适用于成人的功能结果的验证评估。目前的研究要么使用测量方法 与儿童有关，对成人的适用性和治疗敏感性有限，或未对此进行评估 这是一个重要的领域，极大地限制了人们对如何改善成人发育迟缓功能的了解。我们有 在对成人ASD的初步研究中显示，有可能开发出功能结果的测量方法 与现有措施相比，在成年时具有更高的有效性和对治疗效果更敏感 从童年改编而来。针对DD和PAR-18-039中成人结果测量方面的这一重大差距， “智力和发育障碍患者治疗试验中使用的结果衡量标准”， 该项目建议使用NIH PROMIS方法来开发和验证代理和自我报告版本 成人功能量表(AFS)用于评估社会、就业和独立方面的功能结果 患有痴呆症的成人的活体领域。将基于我们的概念模型生成潜在项目池， 其他人群使用的功能结果衡量标准，以及专家和利益攸关方小组的意见。这 然后由两个校准样本完成项目库：代理记者(例如，父母、临床医生、小组 家庭工作人员)为1000名成人提供了DD代表了DD的全部语言和智力功能 1000例成人DD患者(N=500例ASD，N=500例其他DD)。高级心理测量学 将使用探索性和验证性因素分析以及项目反应理论模型进行分析 创建最终校准的AFS题库(和静态缩写形式)，适合在临床试验中广泛使用 跨异类DD。AFS照顾者和自我报告版本的信度和效度将是 在校准样本中进行检查，以及为期4周的复测子样本(N=200)。对治疗敏感- 相关变化将在住院和门诊样本的纵向干预研究中进行评估 成人发育症。这一结果将验证第一个用于成人临床试验的功能结果衡量标准。 并将为治疗进展铺平道路，以改善这一服务不足人群的功能。

7. PROJECT SUMMARY/ABSTRACT Developmental disabilities (DD), including autism spectrum disorder (ASD), Down syndrome, Fragile X syndrome, and other intellectual and developmental disabilities are heterogeneous neurodevelopmental disorders that place considerable burden on individuals, families, and society. Although most research on DD has focused on children, these conditions are life-long with few established treatments to support functioning in adulthood. As a result, many adults with DD experience significant functional impairment represented by low rates of employment, severe social dysfunction and isolation, and a limited ability to live independently and experience autonomy in adult life. The development of interventions to improve adult functional outcomes in social, employment, and independent living domains across DD has lagged far behind those developed for children. A key factor limiting the development of treatments to improve adult functioning in DD is the lack of validated assessments of functional outcome applicable to adulthood. Current studies either use measures relevant to childhood with limited applicability to and treatment sensitivity in adults, or fail to assess this important domain, greatly restricting knowledge on how adult functioning can be improved in DD. We have shown in preliminary studies with adults with ASD that it is possible to develop measures of functional outcome in adulthood that have greater validity and are more sensitive to treatment effects than existing measures adapted from childhood. In response to this major gap in adult outcome measurement in DD and PAR-18-039, “Outcome Measures for Use in Treatment Trials of Individuals with Intellectual and Developmental Disabilities”, this project proposes to use NIH PROMIS methods to develop and validate proxy- and self-report versions of the Adult Functioning Scale (AFS) for assessing functional outcomes in social, employment, and independent living domains in adults with DD. A pool of potential items will be generated based on our conceptual model, functional outcome measures used in other populations, and input from expert and stakeholder panels. This item pool will then be completed by two calibration samples: Proxy reporters (e.g., parents, clinicians, group home staff) for 1000 adults with DD representative of the full range of verbal and intellectual functioning in DD and 1000 self-reporting adults with DD (N = 500 with ASD, N = 500 with other DD). Advanced psychometric analytics employing exploratory and confirmatory factor analysis and item response theory models will be used to create final calibrated item banks (and static short forms) of the AFS suitable for broad use in clinical trials across heterogeneous DD. The reliability and validity of the AFS caregiver and self-report versions will be examined in the calibration samples, along with a 4-week retest subsample (N = 200). Sensitivity to treatment- related changes will be assessed in longitudinal intervention studies of inpatient and outpatient samples of adults with DD. The results will validate the first measure of functional outcome for use in clinical trials in adult DD and will pave the way for treatment advances to improve functioning in this underserved population.