Effects of NEUREXIN1 Mutations on Autism Phenotypes




Associate Professor of Psychiatry

Project Summary

This past summer, I had the opportunity to work with the dedicated and enthusiastic autism research team at Dr. Ted Brodkin’s lab. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social functioning and restrictive/repetitive behaviors or interests. ASD is challenging to understand and treat due to the wide variety of symptoms and underlying causes that may be involved in the disorder.

The goal of my project was to test the effectiveness of a cognitive-behavioral treatment program to improve social responsiveness in young adults with ASD. Cognitive-behavioral therapy works to change participants’ attitudes and behavior by focusing on how their thoughts and beliefs relate to the ways they behave.

For the project, participants with ASD were recruited and enrolled in the Training to Understand and Navigate Emotions and Interactions (TUNE In) treatment program. The program included components meant to address different symptom domains in ASD, such as social motivation, social anxiety, and social responsiveness. The participants were assessed for their levels of social responsiveness before and after completing the treatment program. After the program, data showed that their social responsiveness had improved, as measured by the Social Responsiveness Scale -2, a well-established assessment.

In the future, we plan to investigate the effect of a particular genetic mutation on social responsiveness in adults with ASD. The mutation of interest is a deletion in the NEUREXIN1 (NRXN1) gene, which codes for a protein that helps neurons to adhere to each other and is involved in synaptic functioning. We also hope to test the effectiveness of the TUNE In treatment program on individuals with ASD and known NRXN1 deletions.

Through this project, I learned more about the complexity of the genetic and biological factors that influence ASD. I gained familiarity with genes implicated in ASD, such as NRXN1, and the effects of their mutations. Additionally, I became familiar with many methods used to assess different domains of social functioning, such as the Social Responsiveness Scale -2 and other written and behavioral assessments.

My work with the Brodkin lab greatly contributed to my appreciation of the challenges and rewards of clinical research. In particular, I found the opportunity to interact with participants uniquely engaging. The experience deepened my understanding of the difficulties adults with ASD face, and underscored the importance of developing effective treatments aimed at the adult ASD community.