Autistic Symptomatology in PWS: Examining Behavioral and Neurobiological Similarities between PWS and Autism Spectrum Disorders – Principal investigator is Anastasia Dimitropoulos, Ph.D.

Expected Significance

                Current findings suggest individuals with PWS exhibit behaviors characteristic of autism, including deficits in social relatedness.  Examining the PWS behavioral phenotype in relation to other neurodevelopmental disorders biologically linked to the 15q – q13 region (such as autism) is critical to uncovering the genetic mechanisms involved for PWS and understanding the behavior and biological similarities and differences between PWS and autism will also aid in illuminating a probable genetic pathway to autism.  The PWS phenotypic evidence also suggests that over-expression of maternal genes in the 15q – q13 region (m-UPD) may be associated with increased social impairment as compared to other causal mechanism of PWS.  This could have profound implications on the treatment of children with both PWS and autism.  

edited: 08/19/2008