Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C Kurtz-Nelson, Rachel Earl, Raphael A Bernier, Evan E Eichler
BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice...
April 15, 2024: Journal of Neurodevelopmental Disorders