Experiences of Adults at 50% Risk of Inheriting a Genetic Mutation for Early-Onset Dementia
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Authors
Rosenblatt, Margalit E.
Issue Date
2019-05-01
Type
thesis_campus
Language
Keywords
Genetics
Other Genetics and Genomics
Alternative Title
Human Genetics Theses
Abstract
Background: An extensive body of scientific research on biomarkers associated with early-onset Alzheimer disease (EOAD) and familial frontotemporal dementia (FTD) has emerged from the Dominantly Inherited Alzheimer’s Network (DIAN) and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) studies. Yet, little of that research has focused on the participants’ lived experiences. Therefore, it is not well understood how to best support these individuals as they face futures that may resemble their parents’ pasts. Methods: Semi-structured interviews with 6 informants (1 male, 5 females, age 30s-60s). Half of the participants chose not to know their genetic status, two knew they carried a pathogenic mutation associated with FTD, and one knew she did not have the pathogenic variant for EOAD that runs in her family. Results: Analysis of the interviews yielded four overarching themes: family disease, influence on family relationships, personal reactions, and research participation. Conclusion: The participants were aware from an early age of a debilitating medical condition occurring in multiple close relatives, even if they did not know or understand what the condition was. This fact, influenced by varying family dynamics, encouraged participants to take control of their situation by seeking out information and planning for the future, which in turn motivated them to partake in longitudinal, observational research.