J Dev Behav Pediatr 2021 Jul 27. Epub 2021 Jul 27.
Department of Human Genetics, Emory University School of Medicine, Atlanta GA; Ms. Glassford is now with the Department of Pediatric Genetics, University of Michigan, Ann Arbor, MI; Ms. Pass is now with the Anderson Cancer Center, University of Texas, Houston, TX; Department of Cell Biology, Emory University School of Medicine, Atlanta, GA; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta GA.
Objective: Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. Although ascertainment of a relatively common, well-studied variant may provide guidance related to treatments and developmental expectations, it is less clear how the diagnosis of a rare variant affects caregivers, especially when the phenotype may include later-onset manifestations such as psychosis. In this study, we sought to identify caregiver concerns in the first qualitative study to assess the psychosocial impact of diagnosis on caregivers of individuals with 3q29 deletion syndrome (3q29Del), which is associated with a 40-fold increase in risk for psychosis. Read More