Development of aging-sensitive spoken language measures in children, adolescents, and young adults with Down Syndrome

项目概要/摘要 唐氏综合症（DS）是智力障碍的主要原因。虽然延迟，但认知 在 DS 中，技能的发展贯穿整个童年直至成年早期。在成年期，认知功能的研究 DS 中的重点从关注改善转向关注认知丧失。由于基因的三重复制 在 21 号染色体上，患有 DS 的个体有早期发病和阿尔茨海默病发病率增加的风险 疾病（AD）。在一般人群中，AD 诊断之前需要经历长期的临床前和前驱期 持续二十多年的阶段和语言标记是 AD 进展的早期指标。在 然而，对于 DS 患者，我们对整个生命周期发展的理解存在显着差距 从规范（尽管延迟）发展到后期早期阶段的研究进展的障碍 认知能力下降。 DS 研究的关键目标包括阐明发展模式的变化和 识别可能具有保护作用并增强抵御认知能力下降的因素，并发展 支持认知弹性的干预措施。开发可用于表征的测量工具 生长和衰退，评估其心理测量特性对于理解疾病至关重要 进展，识别潜在的干预点，并评估新疗法的功效。在这个 在该项目中，我们建议使用之前从 107 名 DS 参与者（6-23 岁）收集的数据集， (1) 评估 9 种对年龄敏感的口语指标的心理测量特性，以及 (2) 表征 这些指标相对于参与者特征的发展轨迹，以帮助确定技能 促进发展和衰退。这些目标将通过重新转录和编码语言来实现 在两种表达性语言采样上下文中生成，这两种语言采样上下文是第一个经过验证可在 DS 中使用的语言采样上下文。措施 从样本中得出的内容将包括索引词汇和语义技能、句法技能和口头技能的技能。 犹豫。重测可靠性将以四个星期的间隔进行评估。将使用标准化措施 作为结构效度的指标。为期两年的纵向随访将得出相对敏感性的估计 各种措施的变化。这些指标的发展轨迹将通过描述来探索 表现作为参与者特征（即实际年龄、非语言和语言）的函数 认知、工作记忆、适应技能和自闭症症状）。通过验证和建立 对患有以下疾病的儿童、青少年和年轻人进行这些对年龄敏感的口语指标的心理测量 DS，拟议的研究将提供工具，帮助我们理解 DS 的发展并识别 潜在的治疗目标，以提高抵御后期衰退的能力，弥合两者之间的概念差距 发展研究和衰退研究。

PROJECT SUMMARY/ABSTRACT Down syndrome (DS) is the leading genetic cause of intellectual disability. Although delayed, cognitive skills develop across childhood and into early adulthood in DS. In adulthood, the study of cognitive functioning in DS shifts from a focus on improvement to a focus on cognitive loss. Because of the triplication of genes located on chromosome 21, individuals with DS are at risk for an earlier onset and increased incidence of Alzheimer’s Disease (AD). In the general population, the diagnosis of AD is preceded by long preclinical and prodromal phases that extend over two decades, and language markers are early indicators of the progression of AD. In individuals with DS, however, gaps in our understanding of development across the lifespan present significant hurdles for research on the progression from normative (albeit delayed) development to the early phases of later cognitive decline. Crucial goals of DS research include elucidating variations in the patterns of development and decline, identifying factors that may be protective and foster resilience against cognitive decline, and developing interventions to support cognitive resilience. Developing measurement tools that that can be used to characterize both growth and decline and evaluating their psychometric properties is vital for understanding disease progression, recognizing potential points of intervention, and evaluating the efficacy of new treatments. In this project, we propose, using a dataset previously collected from 107 participants with DS (6 – 23 years of age), to (1) evaluate the psychometric properties of 9 aging-sensitive spoken language metrics and (2) characterize the developmental trajectories of these metrics relative to participant characteristics to help determine the skills contributing to development and decline. These aims will be addressed by re-transcribing and coding language produced in two expressive language sampling contexts that are the first to be validated for use in DS. Measures derived from the samples will include those indexing lexical and semantic skills, syntactic skills, and verbal hesitations. Test-retest reliability will be assessed over a four-week interval. Standardized measures will be used as indicators of construct validity. A two-year longitudinal follow-up will yield an estimate of relative sensitivity to change of the various measures. The developmental trajectories of these metrics will be explored by describing the performance as a function of participant characteristics (i.e., chronological age, nonverbal and verbal cognition, working memory, adaptive skills, and autism symptomatology). By validating and establishing the psychometrics of these aging-sensitive spoken language metrics in children, adolescents, and young adults with DS, the proposed study will provide tools that can facilitate our understanding of development in DS and identify potential treatment targets to promote resilience against later decline, bridging the conceptual gap between studies of development and studies of decline.