Screening for profiles of risk associated with ASD and other emerging atypical phenotypes
Jed Elison, PhD (Institute of Child Development)
Suma Jacob, MD, PhD (Department of Psychiatry), Amy Esler, PhD, LP (Department of Pediatrics), Jason Wolff, PhD (Department of Educational Psychology)
There is a great need for improved screening approaches and improved implementation of screening procedures to identify children who will need early intervention for ASD. New screening approaches are needed to capture the heterogeneity of the disorder(s), which includes identifying children who are likely to access services in the community even though they may not meet strict research criteria for an autism spectrum diagnosis.
In the current application, we propose to test a new screening approach that we refer to as pheno-screening. We ask parents to complete online versions of standardized questionnaires that are designed to capture individual differences in highly dimensional traits relevant to the early emergence of clinically impairing behaviors that constitute ASD. We use data driven approaches to derive clusters or latent classes of children that represent a continuum of risk. Next, based on a given cluster’s profile, we invite children into the laboratory for direct phenotypic assessment that also includes measurement of biomarkers hypothesized to help us parse the heterogeneity of behavioral profiles encapsulated by an ASD diagnosis. Improved screening procedures promise to advance early identification, and improved characterization of biomarkers associated with risk promises to advance new interventions designed to target specific mechanisms associated with behavioral symptomatology.