Examining Neuropsychiatric Susceptibilities Through Familial Health Perspectives: Insights into the 16p12.2 Microdeletion

open_access
Open Access
Author:
Gomaa, Billal
Area of Honors:
Biochemistry and Molecular Biology
Degree:
Bachelor of Science
Document Type:
Thesis
Thesis Supervisors:
Santhosh Girirajan, Thesis Supervisor
Santhosh Girirajan, Thesis Honors Advisor
Lori Ruth Stepan, Faculty Reader
Keywords:
16p12.2
microdeletion
Abstract:
The 16p12.2 microdeletion is a rare, recurring copy number variant (CNV) strongly associated with a range of neurodevelopmental and neuropsychiatric disorders, including intellectual disability and cognitive delay. Examining a comprehensive family health history alongside standard phenotypic assessments can improve our understanding of the deletion’s variable expression. Data was collected through two survey instruments administered to families in a 16p12.2 support group. The first survey gathered data regarding phenotypic features across many body systems and specifically on immediate family members’ neuropsychiatric history. The second aimed to understand gaps in support for 16p12.2 deletion families. Phenotypic analysis revealed similar results to previous studies; probands with the 16p12.2 deletion often experience abnormalities, including developmental delays and musculoskeletal disorders. Family history of neuropsychiatric disorders, including depression and developmental and cognitive delay, were common in probands. The support group survey revealed that many families would benefit from more accessible educational materials regarding the deletion and more in-person support groups. These results suggest the importance of systematically integrating family health history across all phenotypes. In future studies, specific pre-developed surveys can be used to standardize data. Comprehensive family histories can allow clinicians to develop more specialized deletion management strategies. Further work should be done to increase public and professional understanding and awareness of the 16p12.2 microdeletion.