The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression

Bonita P. Klein-Tasman, PhD,* Brianna D. Yund, PhD,† Carolyn B. Mervis, PhD‡

ABSTRACT: Objective: 7q11.23 duplication syndrome (Dup7) is a genetic disorder with a variable phenotype associated with cognitive and behavioral characteristics including a high incidence of expressive language difficulties, social anxiety, and oppositional or disruptive behavior. Correlates of aggression and oppositionality were examined. Method: Participants were 63 children with genetically confirmed Dup7 between the ages of 4 and 17 years. A multimethod, multi-informant approach was used to assess aggression and oppositional behavior, and the contributions of cognitive functioning, expressive language, autism spectrum, social anxiety, and hyperactivity/impulsivity (H/I) symptomatology were considered. Results: Elevated levels of aggression and oppositional behavior were found. Cognitive functioning, expressive language, and autism spectrum disorder symptomatology were not significantly related to parent ratings of aggression, although young children who had language and nonverbal cognitive delays were most likely to demonstrate examiner-observed aggression. Social anxiety and H/I symptomatology were related to defiant/aggressive and oppositional behavior. Conclusion: Genes in the 7q11.23 region duplicated in Dup7, in transaction with the environment, may contribute to aggressive and oppositional behavior.
(J Dev Behav Pediatr 00:1–9, 2022) Index terms: behavior, developmental disability, genetics, neurodevelopment, autism, 7q11.23 duplication syndrome.

Members may view this article by logging in at the top of this page and then clicking on “Research” and “Articles (Members Only)”. This article is available for online viewing only, as a courtesy to our members. Downloading and printing are strictly prohibited.

ACKNOWLEDGEMENTS

The authors thank Duplication Cares and the children and parents who participated in this study; their generosity made this research possible. The authors also thank Kristin Smith and the members of the Neurodevelopmental Sciences Laboratory (especially C. Holley Pitts) for assistance with data collection.