Funding Research for Treatments and a Cure

Developmental Ube3a effects on language-related assessments in a mouse AS model
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R. Holly Fitch headshot R. Holly Fitch, Ph.D. University of Connecticut
2020

Developmental Ube3a effects on language-related assessments in a mouse AS model

Dr. Fitch’s lab has found that the Angelman syndrome mouse model has fewer vocalizations (communication) than typically developing mice.  This project proposes to find the brain circuitry responsible for the reduced communication in mice.  Preliminary studies suggest it is probably motor circuitry that is most important for vocalizations in the AS mouse model.  

This work will help us better understand the brain regions involved in speech and language disorders for AS, which will provide insight as to the therapeutic window for treating communication difficulties in AS.  

Slide explaining research study
click to enlarge

 

Initial Findings

A paper was published about the auditory processing and social communication in the Angelman syndrome mouse model.  The major findings were

  1. Angelman mice have slightly enhanced (better!) receptive auditory processing ability
  2. Angelman mice have reduced vocalizations
  3. The reduced vocalization was strongly correlated with motor deficits and not deficits in social interactions or auditory processing, unlike what is seen in mouse models of autism.

This means that the Angelman mouse model can be used to study communication deficits and that motor impairments contribute heavily to the communication deficits in Angelman syndrome.  

See the published paper.