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COGNITION

Learning & Memory

Description
Deficits in learning and memory are a hallmark symptom of Angelman syndrome.  The underlying mechanism is explained by a lack of plasticity in Ube3a-deficient neurons, or a lack of maturity in these neurons. Biomarkers in rodents include reduced long-term potentiation.  A potential biomarker in human patients may be evoked-response potential changes (ERP).  Outcome measures include developmental tests and others listed below.

Communication

Description
Difficulties with expressive communication are profound in Angelman syndrome, though receptive language is less affected. Outcome measures include traditional developmental assays, and a novel biomarker includes quantitative measurements of vocalizations.  

The Communication Matrix is a recently discovered tool  that has a lot of promise in advancing future research efforts in A.S. communication. Below is a presentation put together by the creator, Dr. Charity Rowland.