Executive Function Outcome Measures for Young Children with Down Syndrome

唐氏综合征（Down syndrome，DS）是最常见的神经遗传性综合征， 残疾，发生在大约1：691的活产婴儿中（帕克等人，2010年）。近期的做法 在DS和其他神经遗传性疾病的治疗已经开始集中在最早的部分， 寿命这种有针对性的早期治疗工作将需要高度敏感和 心理测量学上合理的结果措施，以证明对早期发展的影响 DS中的轨迹。然而，患有DS的幼儿在运动中表现出表型特异性延迟， 发展和早期沟通，这可能会混淆早期的可靠性和有效性， 执行功能（EF）关键认知领域的发展评估。因此，我们认为， 需要对EF评估进行严格的心理测量学验证，以推进治疗科学， 儿童DS在这项研究中，210名患有DS的幼儿（2.5至7.99岁） 将在四波数据收集中进行评估，以建立可靠性、有效性、内部 一致性和对拟议评估组合变化的敏感性。一套有前途的 选择实验室评估来测量EF的各个方面。拟议 措施将最大限度地减少威胁可靠性和/或 DS早期认知评估的有效性。先进的定量分析方法， 结构方程模型框架内的潜在变量模型将用于 研究所提出的措施的心理测量特性。项目成果将 加强对患有DS的幼儿的治疗科学，并为关键的努力做出贡献， 改善这一人群的发展成果。

Down syndrome (DS) is the most common neurogenetic syndrome associated with intellectual disability, occurring in approximately 1:691 live births (Parker et al., 2010). Recent approaches to treatment in DS and other neurogenetic disorders have begun to focus on the earliest part of the lifespan. This type of targeted early treatment work will require highly sensitive and psychometrically sound outcome measures to demonstrate effects on early developmental trajectories in DS. However, young children with DS show phenotype-specific delays in motor development and early communication, which could confound the reliability and validity of early developmental assessments in the critical cognitive domain of executive function (EF). Therefore, rigorous psychometric validation of EF assessments is needed to advance treatment science for young children with DS. In this study, 210 young children with DS (between 2.5 and 7.99 years) will be assessed at four waves of data collection to establish reliability, validity, internal consistency, and sensitivity to change in the proposed battery of assessments. A promising set of laboratory assessments has been selected to measure various aspects of EF. The proposed measures will minimize phenotype-related confounds that threaten the reliability and/or the validity of early cognitive assessment in DS. Advanced quantitative analytic approaches utilizing latent variable models within a structural equation modeling framework will be used to investigate the psychometric properties of the proposed measures. Project outcomes will strengthen treatment science for young children with DS and contribute to the critical effort to improve developmental outcomes in this population.