This presentation is intended for practicing PAs who want to learn more about the overlap between genetics and autism spectrum disorder. The goal is to help PAs “think genetically” when evaluating and seeing patients with autism spectrum disorder. The intricacies of a genetics evaluation will be reviewed to help PAs better understand, appreciate, and utilize a genetics consult. The history, definition, diagnosis, epidemiology, and etiology of autism spectrum disorder will be discussed. Selected genetic disorders associated with autism spectrum disorder will also be reviewed. Briefly, options for genetic testing will be discussed as well as genetic counseling and consenting for genetic testing.

Learning Objectives

At the conclusion of this activity, participants should be able to:

• Discuss the history, definition, diagnosis, epidemiology, and etiology of autism spectrum disorder
• Recognize patients with autism spectrum disorder who may benefit from a genetics evaluation
• Examine the genetic etiology of selected genetic disorders associated with autism spectrum disorder