2016 Gatlinburg Conference Poster
PS-60
Title: Aggression in Children with 7q11.23 Duplication Syndrome: A Preliminary Examination
Authors: Brianna D. Yund, Carolyn B. Mervis, Bonita P. Klein-Tasman
Introduction: Studies of individuals who have genetic disorders have the strong potential to contribute to the understanding of
relations between genes and behavior. A recent examination of the psychological characteristics of individuals with 7q11.23
duplication syndrome (Dup7) [1] indicated high levels of separation and social anxiety and also elevated aggression/oppositional
behavior compared to same-aged peers. To further delineate the Dup7 phenotype, we sought to describe the presence and
severity of aggression in 63 children with Dup7 and the potential contributions of intellectual functioning and anxiety to levels of
aggression.
Methods: Participants were 63 children with genetically-confirmed Dup7 (25 females, 38 males) aged 4 - 17 years (Mean= 8.64
years, SD= 3.77). Children were administered the Differential Ability Scales-II (DAS-II) to assess overall intellectual functioning.
Primary caregivers were interviewed about ASD symptomology using the Autism Diagnostic Interview-Revised (ADI-R) and also
completed the Conners Comprehensive Behavior Rating Scales (CBRS) to assess current behavior functioning for the 45
participants aged 6 years and older (18 females, 27 males; Mean=10.31 years, SD=3.29). For the purpose of this study, parent
ratings on the Oppositional Defiant Disorder (ODD), Separation Anxiety Disorder and Social Anxiety Disorder symptom scales
were examined. Items relating to aggression on the ADI-R (items 81 & 82) were examined for presence and severity. Children
were also administered the appropriate module from the Autism Diagnostic Observation Schedule-2 (ADOS-2; Module 1 n=9,
Module 2 n=22, Module 3 n=32). An item relating to aggression on the ADOS-2 was examined to determine the degree to which
aggression toward the examiner was present during the ADOS-2 assessment.
Results: On the CBRS, 49.2% of children had elevated scores on the ODD scale (Mean=60.25, SD=15.47); 62.2% had elevated
scores on the Separation Anxiety Disorder scale (Mean=66.54, SD=15.44); and 77.8% had elevated scores on the Social Anxiety
Disorder scale (Mean=73.02, SD=15.20). Males showed significantly more difficulties on the Separation Anxiety Disorder scale
than did females. No other gender or age differences were present. Scores on the CBRS ODD scale were significantly related to
scores on the CBRS Social Anxiety Disorder scale (rho=.377, p <.05). On the ADI-R, 57.2% of children were reported as currently
showing some degree of aggression toward caregivers and 63.6% were reported as evidencing some degree of aggression
toward caregivers either currently or in the past. Current aggression toward caregivers (ADI-R) was significantly related to parent
ratings on the CBRS Social Anxiety (rho=.321, p<.05) and Separation Anxiety Disorder (rho=.485, p<.05) scales. On the ADOS-2,
17.5% of children were rated as showing some type of aggression toward the examiner. Significant relations were present
between overall intellectual functioning (DAS-II GCA) and score on the ADOS-2 aggression item (rho=-.365, p<.05) but not on the
ADI-R aggression item.
Discussion: Results indicate elevated levels of aggression in children with Dup7, suggesting that genes within this region may
contribute to the presence of aggression. Overall intellectual functioning was significantly related to aggression in interaction
with the examiner but not to parental ratings of aggression. Based on parental report, children with more aggression also
showed higher levels of social and separation anxiety. Further research about the presence of aggression and interventions that
may reduce aggression in children with Dup7 is warranted. Implications of these findings for the study of Dup7 and genotypephenotype relations will be discussed.
References/Citations:
• Key Reference: [1] Mervis, C.B., Klein-Tasman, B.P., Huffman, M.J. Velleman, S.L., Pitts, C.H., Henderson, D.R., Osborne,
L.R. (2015). Children with 7q11.23 duplication syndrome: Psychological characteristics. American Journal of Medical
Genetics, Part A, 167, 1436-1450.
Funding: Simons Foundation SFARI 238896, NICHD R37 HD29957.