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Monthly Archives: May 2016
Research: “Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations”
Phelan-McDermid syndrome (PMS) is a disorder caused by a deletion in chromosome 22 which results in an impaired functioning of the SHANK3 gene. Individuals with PMS typically have a delay in growth and may have a concurrent diagnosis of autism … Continue reading
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Research: “Touchscreen Learning Deficits and Normal Social Approach Behavior in the Shank3B Model of Phelan-McDermid Syndrome and Autism”
Deletions and mutations in SHANK3 gene cause Phelan McDermid Syndrome (PMS) and have also been associated with autism spectrum disorder (ASD) and intellectual disabilities. Using a mouse model of Shank3 deletions, this study examines the hypothesis that deficits of SHANK3 … Continue reading
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Research “Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism”
Studies have suggested that behavioral deficiencies in autism spectrum disorder (ASD) can be attributed to abnormal neural connectivity. However, the molecular and neural mechanisms underlying ASD are still unknown. In this study by researchers at Duke University, researchers eliminated exons … Continue reading
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