Funding Research for Treatments and a Cure

Rett Syndrome Disorders and Angelman Syndrome as Genetic Models of Autism Spectrum Disorders
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Julie Davidson Vanderbilt University
2011

Rett Syndrome Disorders and Angelman Syndrome as Genetic Models of Autism Spectrum Disorders

$25,000 –  RDCRN Training Grant

This investigator will use selective phenotype study techniques to study children 3-10 years of age with AS, Rett syndrome ( RTT), and MeCP2 duplications, as genetic models of autism spectrum disorder (ASD).  It is hoped that 15 individuals from each group will be studied.  Dr. Davidson plans to use a combination of clinical assessment and passive psycho-physiological measures, including eye-tracking and event-related potentials (ERP).  ERP offers a non-invasive method of assessing the functioning of social brain circuitry and social relatedness, and does not require an overt response from the patient.   By contrasting these groups of patients, they will begin to tease apart genetic contributions to ASD symptoms and, for RTT and MeCP2 duplications in particular, the possible contributions of gene dosage to ASD features and developmental course.