This team (including researchers at Aarhus University, Denmark; Emerson College; and Center for Autism Research at CHOP) is working on a grant to study language abilities using measures for which we aim to demonstrate greater sensitivity than standardized measures.

This team (including Holly Fitch and Stormy Chamberlain) is pursuing parallel mouse and human models of language and communication skills in individuals with changes in the gene associated with Angelman syndrome.

The Angelman syndrome Challenge Team Holly, Stormy, and Inge-Marie Eigsti-The SLAC challenge team led by Eigsti, Chamberlain and Fitch, and including Peter Perrino (SLAC Fellow), has made recent progress in identifying genetically mediated processing anomalies that may contribute to speech and language deficits in Angelman Syndrome (AS). Most individuals with AS show language impairments, and either do not speak or use only a few words. A mouse model carrying a maternally-imprinted mutation of the gene Ube3a was found to show significantly reduced social calls or ultrasonic vocalizations (USVs). Calls of AS mice were also atypical in pitch, duration and loudness, suggesting oral-motor deficits associated with the mutation. As mice also showed acoustic perceptual enhancements characteristic of autistic populations (Perrino et al., 2018). A parallel project will be starting soon to assess related measures in a rare mosaic AS population that shows preserved speech. Assessments will include acoustic perceptual tasks, as well as speech and language measures. This pilot data will be used in an RO1 to be submitted in 2021. Fellows interested in learning about or assisting in ongoing AS mouse studies, or in the collection and analysis of data from mosaic AS individuals, should contact the challenge team for more info. Regular meetings are not currently set (TBD).