Core C: Assessment Core

项目总结

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.