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

针对患有唐氏综合症的儿童、青少年和年轻人制定对年龄敏感的口语测量方法

• 批准号: 10644947
• 负责人: Angela John Thurman
• 金额: $ 7.99万
• 依托单位: UNIVERSITY OF CALIFORNIA AT DAVIS
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-04-01 至 2025-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10644947
• 关键词: 16 year old; 20 year old; Address; Adolescent and Young Adult; Adult; Age; Age Years; Aging; Alzheimer' s Disease; Alzheimer' s disease diagnosis; Amyloid beta-Protein Precursor; Area; Characteristics; Child; Childhood; Chromosome 21; Chronology; Code; Cognition; Cognitive; Communication; Data; Data Set; Development; Diffuse; Disease Progression; Down Syndrome; Fostering; Funding; General Population; Genes; Genetic; Genetic Transcription; Goals; Growth; Head; Heterogeneity; Impaired cognition; Incidence; Individual; Intellectual functioning disability; Intervention; Investigation; Language; Language Development; Longevity; Measurement; Measures; National Institute of Child Health and Human Development; Outcome; Outcome Measure; Participant; Pattern; Performance; Phase; Phenotype; Prevention strategy; Procedures; Property; Psychometrics; Recommendation; Research; Research Personnel; Risk; Sampling; Semantics; Senile Plaques; Severities; Short-Term Memory; Symptoms; Testing; Time; Transcript; Treatment outcome; Variant; Youth; age related; autism spectrum disorder; cognitive function; cognitive skill; cohort; density; early onset; efficacy evaluation; emerging adult; follow-up; improved; indexing; lexical; mild cognitive impairment; neuropathology; non-verbal; novel therapeutic intervention; pre-clinical; promote resilience; resilience; secondary analysis; sex; skills; sound; standardize measure; symptomatology; syntax; tool; verbal; 16 year old; 20 year old; Address; Adolescent and Young Adult; Adult; Age; Age Years; Aging; Alzheimer' s Disease; Alzheimer' s disease diagnosis; Amyloid beta-Protein Precursor; Area; Characteristics; Child; Childhood; Chromosome 21; Chronology; Code; Cognition; Cognitive; Communication; Data; Data Set; Development; Diffuse; Disease Progression; Down Syndrome; Fostering; Funding; General Population; Genes; Genetic; Genetic Transcription; Goals; Growth; Head; Heterogeneity; Impaired cognition; Incidence; Individual; Intellectual functioning disability; Intervention; Investigation; Language; Language Development; Longevity; Measurement; Measures; National Institute of Child Health and Human Development; Outcome; Outcome Measure; Participant; Pattern; Performance; Phase; Phenotype; Prevention strategy; Procedures; Property; Psychometrics; Recommendation; Research; Research Personnel; Risk; Sampling; Semantics; Senile Plaques; Severities; Short-Term Memory; Symptoms; Testing; Time; Transcript; Treatment outcome; Variant; Youth; age related; autism spectrum disorder; cognitive function; cognitive skill; cohort; density; early onset; efficacy evaluation; emerging adult; follow-up; improved; indexing; lexical; mild cognitive impairment; neuropathology; non-verbal; novel therapeutic intervention; pre-clinical; promote resilience; resilience; secondary analysis; sex; skills; sound; standardize measure; symptomatology; syntax; tool; verbal

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.

项目摘要/摘要 唐氏综合症（DS）是智力障碍的主要遗传原因。虽然被延迟，但认知 在整个童年和成年初期，技能在DS中发展。在成年期，认知功能的研究 在DS中，从对改进的重点转变为对认知损失的关注。由于基因的三倍 在21号染色体上，患有DS的人有较早发病的风险，而阿尔茨海默氏症的发病率则增加 疾病（AD）。在一般人群中，AD的诊断之前是长的临床前和前脚 延长了二十年的阶段，语言标记是AD进展的早期指标。在 但是，DS的个人在我们对整个生命周期的发展的理解中的差距具有重要意义 研究从正常（尽管延迟）发展到后来的早期阶段进行研究的障碍 认知能力下降。 DS研究的关键目标包括阐明发展模式和 衰落，识别可能受到保护的因素，并促进抵御认知能力下降，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 生长和衰落和评估其心理测量特性对于理解疾病至关重要 进展，识别干预的潜在点以及评估新疗法的效率。在这个 项目，我们建议使用以前从107名参与者（6 - 23岁）的参与者收集的数据集， （1）评估9个对衰老敏感语言指标的心理测量特性，（2）表征 这些指标相对于参与特征的发展轨迹，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解决 以两个表达语言抽样上下文产生，这些上下文是第一个用于DS中使用的验证的。措施 源自样本的衍生品将包括那些索引词汇和语义技能，句法技巧和口头 犹豫。重测可靠性将在四个星期的间隔内进行评估。将使用标准化措施 作为结构有效性的指标。两年的纵向随访将产生对相对灵敏度的估计 改变各种措施。这些指标的发展轨迹将通过描述 参与特征的函数（即年代年龄，非语言和言语）的函数 认知，工作记忆，适应性技能和自闭症症状学）。通过验证和建立 这些对儿童，青少年和年轻人的衰老敏感语言指标的心理计量学 DS，拟议的研究将提供可以促进我们对DS发展的理解的工具，并确定 潜在的治疗目标，以促进抵御以后下降的弹性，弥合 研究和衰落研究的研究。