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

项目摘要/摘要 唐氏综合症(DS)是导致智力残疾的主要遗传原因。虽然延迟了，但认知 在DS中，技能从童年发展到成年期早期。在成年期，认知功能的研究 在DS中，从关注改善转向关注认知损失。因为定位的基因是三倍的 在21号染色体上，患有DS的个体有较早发病和阿尔茨海默氏症发病率增加的风险 疾病(AD)。在普通人群中，阿尔茨海默病的诊断之前有很长的临床前期和前驱症状。 这一阶段持续了二十多年，语言标记是AD进展的早期指标。在……里面 然而，患有DS的人在一生中对发育的理解存在着显著的差距 研究从规范性(尽管延迟)发展到后期早期阶段的障碍 认知能力下降。DS研究的关键目标包括阐明发育模式和 下降，确定可能保护和促进对认知下降的复原力的因素，并发展 支持认知复原力的干预。开发可用于表征的测量工具 发育和衰退并评估其心理测量学特性对于了解疾病至关重要 进展，识别潜在的干预点，并评估新治疗的效果。在这 项目，我们使用之前从107名患有DS(6-23岁)的参与者收集的数据集，建议 (1)评估9个对年龄敏感的口语指标的心理测量学特性；(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 在两个富有表现力的语言采样上下文中产生，这是第一个验证在DS中使用的语言。措施 从样本中派生出来的将包括那些索引词汇和语义技能、句法技能和动词 犹豫。重测的可靠性将在四周的时间间隔内进行评估。将使用标准化的措施 作为结构效度的指标。一项为期两年的纵向随访将得出对 各项措施的变化。这些指标的发展轨迹将通过描述以下内容来探索 作为参与者特征(例如，按时间顺序的年龄、非语言和语言)的函数的表现 认知、工作记忆、适应技能和自闭症症状学)。通过验证和建立 这些对衰老敏感的口语指标在儿童、青少年和年轻人中的心理测量学 拟议的研究将提供工具，以促进我们对DS的发展的了解，并确定 潜在的治疗目标，以促进抵御后期衰退的韧性，弥合 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.