Date of Thesis
Spring 2024
Description
The present study examines two classes of behavior in probands with the 16p11.2 duplication and deletion: repetitive behavior and psychosis spectrum behavior. It was hypothesized that 1.) deletion and duplication cases will differ significantly in the means and profiles of repetitive behaviors across five subscales and 2.)16p11.2 duplication cases will exhibit more schizotypal traits than the deletion cases. Data on 94 total participants was obtained from the Simmons Variation Individuals Project. Three scales were used to measure behavior: the Childhood Routines Inventory-Revised, the Childhood Oxford-Liverpool Inventory of Feelings and Experiences, and the Child Behavior Checklist. Data analysis was conducted using 2x3 Mixed ANOVAs and Linear Regressions. Results from these tests showed strong evidence that deletion and duplication of 16p11.2 yield differing neurodevelopmental and neuropsychiatric conditions. Duplication cases were more symptomatic in both repetitive behavior and psychosis spectrum behavior. Overall, the study found that copy number variation in the 16p11.2 region presents a risk for a variety of psychiatric symptoms in children and shows the importance of dimensional approaches in understanding the behavioral phenotypes of genetic syndromes.
Keywords
16p11.2, repetitive behaviors, psychosis spectrum behaviors, autism, deletion, duplication
Access Type
Honors Thesis
Degree Type
Bachelor of Arts
Major
Psychology
Second Major
Sociology
Minor, Emphasis, or Concentration
Dance
First Advisor
David Evans
Second Advisor
T. Joel Wade
Third Advisor
Heidi Lorimor
Recommended Citation
Rakauskas, Adrianna, "A Comparison of Symptom Profiles in Probands with 16p11.2 Deletion and Duplication Syndromes: Repetitive Behavior and Psychosis Proneness" (2024). Honors Theses. 686.
https://digitalcommons.bucknell.edu/honors_theses/686