Despite significant advances in modern communication technologies, there exists a huge gap in their application to help individuals who are minimally verbal with autism spectrum disorder speak. In the current project, Christopher McDougle, Pattie Maes and Thomas Quatieri plan to draw on advanced signal sensing and analysis technologies to characterize both vocal and behavioral means of expression for use in the development of clinical assessment tools and personalized treatments.

Understanding brain functional atypicalities in ASD and knowing when they emerge is important in planning personalized early interventions. In this project, Margot Taylor and her collaborators will study brain function (using new technology: optically pumped magnetometry magnetoencephalography) in children one to four years old, some of whom who will be diagnosed with ASD and some who will not, providing unique data on neural markers of risk and resilience and their relations to emerging ASD features and behavior.

A nascent literature documents abnormal sleep rhythms in people with ASD, which is consistent with other evidence of altered thalamocortical communication in ASD. Because large studies are needed to characterize abnormal sleep rhythms and to understand its clinical relevance, Dara Manoach and her team plan to validate and use a wearable EEG device to measure sleep at home in children with ASD and typically developing peers. This project will lay the groundwork for large-scale studies to illuminate the genetics and mechanisms of abnormal sleep rhythms in ASD and identify novel treatment targets.

De novo, recurrent mutations in a regulatory subunit of protein phosphatase 2A (PPP2R5D, a high-confidence ASD risk gene) result in Jordan’s syndrome. Stefan Strack and colleagues have generated novel mouse models that recapitulate cardinal features of this syndrome. The current project aims to define molecular signatures and evaluate potential treatments of the disorder.