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

项目总结/摘要 唐氏综合征（DS）是智力残疾的主要遗传原因。虽然延迟，认知 在DS中，技能在整个童年和成年早期发展。在成年期，对认知功能的研究 在DS中，从关注改善转向关注认知丧失。由于三倍的基因定位 在21号染色体上，患有DS的个体有较早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的诊断之前有长时间的临床前和前驱症状， 这些阶段持续了二十多年，语言标记是AD进展的早期指标。在 然而，对于患有DS的个体，我们对整个生命周期发展的理解存在重大差距， 从规范性（尽管是延迟的）发展到后期发展的早期阶段的研究障碍 认知能力下降DS研究的关键目标包括阐明发育模式的变化， 认知能力下降，确定可能保护和促进对认知能力下降的恢复力的因素， 支持认知复原力的干预措施。开发可用于表征 以及评估其心理测量学特性对于理解疾病是至关重要的 进展，识别潜在的干预点，并评估新治疗的疗效。在这 项目，我们建议，使用以前收集的数据集从107名参与者与DS（6 - 23岁）， (1)评估9个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 促进发展和衰落。这些目标将通过重新转录和编码语言来实现 在两个表达性语言采样上下文中产生，这是第一次验证用于DS。措施 从样本中得出的结果将包括那些索引词汇和语义技能，句法技能，和口头 犹豫将在四周的时间间隔内评估重测信度。将采用标准化措施 作为结构效度的指标。一个为期两年的纵向随访将产生一个相对敏感性的估计， 各种措施的变化。这些指标的发展轨迹将通过描述 作为参与者特征的函数的性能（即，实足年龄，非语言和语言 认知、工作记忆、适应性技能和自闭症认知学）。通过验证和建立 这些年龄敏感的口语指标在儿童，青少年和年轻人的心理测量， 建议的研究将提供工具，有助我们了解残疾人士服务的发展， 潜在的治疗目标，以促进对后期衰退的恢复力，弥合概念上的差距， 发展研究和衰落研究。

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.