Date of Award
Master of Science
Bonita P. Klein-Tasman
W. Hobart Davies, Jeffrey H. Tiger
7q11.23 duplication syndrome (Dup7) is a recently identified genetic disorder that is caused by a duplication of the same set of genes deleted in Williams syndrome (WS). Dup7 is highly variable and associated with several cognitive, behavioral, and medical characteristics, a wide range of cognitive abilities, language delay, childhood apraxia of speech, autism spectrum disorders (ASD), anxiety disorders, developmental coordination disorder, and epilepsy. A recent examination of individuals with Dup7 indicated high levels of social anxiety and elevated aggression and oppositional behavior compared to same-aged peers; however, detailed characterization of behavioral outcomes and factors that may contribute to variability in functioning have not been explored. The aim of this study was to characterize the presence and severity of aggression in children with Dup7 and identify potential contributions to levels of aggression utilizing a multi-method, multi-informant approach. Participants included 63 children with Dup7 between the ages of 4 and 18. Results indicate elevated levels of aggression and oppositional behavior. Children who were young and had language delays were more likely to demonstrate aggression as rated by an examiner. Intellectual functioning, expressive language functioning, and ASD severity were not related to aggression; however, children who were rated by their parents as demonstrating behaviors associated with Social Anxiety Disorder were more likely to be rated as demonstrating behaviors consistent with Oppositional Defiant Disorder. This finding suggests that the presence of social anxiety may contribute to the presence of aggression in children with Dup7. Overall, this study’s findings suggest that the genes in the 7q11.23 region duplicated in Dup7, in transaction with the environment, may contribute to aggressive behavior.
Yund, Brianna, "Aggression in Children with 7q11.23 Duplication Syndrome" (2017). Theses and Dissertations. 1560.
Available for download on Saturday, June 01, 2019