Core C: Assessment Core

项目摘要 自闭症卓越中心的进步将进行三个相互关联的研究项目， 了解如何识别与出生后不久自闭症高风险相关的遗传变异预测风险 改变神经发育轨迹和自闭症诊断，以及这种识别如何影响父母的 经验、态度和决策。三个拟议的PROGRESS研究项目围绕 一组240名有确定遗传风险（IGR）的婴儿和120名无确定遗传风险（非IGR）的婴儿 在目前资助的10万名健康新生儿中， Guardian项目。项目1将利用现有的基因和遗传变异来识别增加自闭症风险的基因和遗传变异。 基因组数据集，以确定IGR组前瞻性。项目2将审查收到一份 对IGR父母的压力、幸福感和干预决策的分子遗传学诊断 组项目3将纵向评估IGR组，以确定新出现的神经发育（生物学， 认知、行为）标记来预测以后的自闭症诊断。 评估核心将在18个月时对两组儿童进行筛查。任何儿童 筛查阳性的患者将被转诊进行快速评估。在24个月时，评估核心将 为IGR提供全面、严格、标准化和具有成本效益的自闭症诊断评估 组该评价结果将为PROGRESS提供表型和诊断信息 中心的主要结果变量-孩子是否符合自闭症的标准。除了提供 对于非IGR组，在24个月时进行筛查（并对筛查阳性的患者进行诊断评估）， 评估核心将再次筛选那些在项目结束时达到36个月的儿童， 如果是阳性的话，就送去做快速评估评估核心将利用经验丰富的团队， 儿童神经心理学家、心理学家和精神病学家，他们是评估自闭症和其他 神经发育障碍，以提供最佳的估计诊断。评估核心将传递诊断 向家长提供信息，并与统计和 计算分析（SCA）核心，利用NYP / Weill Cornell / CU自闭症中心的资源 大脑发育（CADB）表型信息和评价后调查将与 研究项目，以实现其目标。

PROJECT SUMMARY The PROGRESS in Autism Center of Excellence will conduct three inter-related Research Projects to understand how identifying genetic variants associated with high risk for autism shortly after birth predicts risk for altered neurodevelopmental trajectories and autism diagnosis, and how this identification affects parents’ experience, attitudes, and decision-making. The three proposed PROGRESS Research Projects are built around a cohort of 240 infants at identified genetic risk (IGR), and 120 infants without identified genetic risk (non-IGR) found amongst 100,000 healthy newborns screened using genome sequencing from the currently funded GUARDIAN project. Project 1 will identify genes and genetic variants that increase autism risk using existing genomic datasets to identify the IGR group prospectively. Project 2 will examine the impact of receiving a molecular genetic diagnosis on stress, well-being, and decision-making for intervention in parents of the IGR group. Project 3 will longitudinally assess the IGR group to identify emerging neurodevelopmental (biological, cognitive, behavioral) markers to predict later autism diagnosis. The Assessment Core will implement screening at 18 months for children in both groups. Any child screening positive will either be referred for an expedited evaluation. At 24 months, the Assessment Core will provide comprehensive, rigorous, standardized, and cost-effective autism diagnostic evaluations of the IGR group. The result of this evaluation will provide phenotypic and diagnostic information for the PROGRESS Center’s primary outcome variable – whether or not the child meets the criteria for autism. In addition to providing screening at 24 months for the non-IGR group (and diagnostic evaluation for those who screen positive), the Assessment Core will again screen those children in either group who reach 36 months by the end of the project, and, if positive, refer for an expedited evaluation. The Assessment Core will draw on an experienced team of pediatric neuropsychologists, psychologists, and psychiatrists who are experts in evaluating autism and other neurodevelopmental disorders to provide the best estimate diagnosis. The Assessment Core will relay diagnostic information to parents and coordinate the curation of Assessment Core data with the Statistical and Computational Analysis (SCA) Core, leveraging the resources of the NYP / Weill Cornell / CU Center for Autism and the Developing Brain (CADB). Phenotypic information and post-evaluation surveys will be shared with the Research Projects to accomplish their Aims.