“We can’t just wish this thing away”: Caregiver perspectives on a child’s diagnosis of 3q29 deletion

Abstract

ABSTRACTObjectiveGenetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. While 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 impacts caregivers, especially when the phenotype may include later onset manifestations such as psychosis. In the current 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.MethodParticipants were recruited from the national 3q29Del registry housed at Emory University (3q29deletion.org). Fifteen participants completed a semi-structured phone interview during which they were asked about their experiences before, during, and after their child received a diagnosis of 3q29Del. Interview responses were analyzed using the general inductive approach, and overarching themes were identified.ResultsWe identified the following overarching themes: difficult “diagnostic odyssey,” mixed feelings about diagnosis, frustration with degree of uncertainty, and importance of resources. Importantly, our data suggest that future risk for psychosis is often not disclosed by medical professionals, consistent with the experience of individuals with 22q11.2 deletion syndrome.ConclusionThese results highlight potential gaps in how caregivers are informed of risk for adult-onset conditions and point to key caregiver concerns for consideration in diagnosis of 3q29Del.