Date of Award

Spring 2020

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Richard Ferrante

Abstract

Down syndrome is a condition characterized by varying degrees of intellectual disability (ID), distinctive facial appearance, and congenital anomalies that results from the presence of a third 21st chromosome. Down syndrome is the most common chromosomal condition, affecting approximately 12.6 per 10,000 live births in the United States, making it imperative that we determine which information is most essential to impart to parents when first presenting the diagnosis. The aim of the present study is to reassess the informational needs of parents during the presentation of a Down syndrome diagnosis. In 2009, data were collected to define the essential information necessary to give a balanced description of Down syndrome. In the present, replicative study, parents and genetic counselors completed online, anonymous surveys used in the 2009 study to reassess which informational items are most essential to present during the initial diagnosis experience. Both groups rated the importance of 100 aspects of Down syndrome. Results identify 30 essential items, of which 19 were highly ranked by all groups. These results were compared to the findings of the 2009 study to identify any changes in perceived importance of different aspects of Down syndrome for both parents and genetic counselors. Comparisons between 2009 and 2019 data reveal a parental emphasis on both the medical and social facets of Down syndrome, whereas genetic counselors generally placed greater weight on the medical facets. Parents also demonstrated a preference for inclusion over specialized programs for their children. Both parents and genetic counselors highlighted the importance of informational resources and referrals, with parents especially showing the need for a wide array of resource media. Findings of our study reinforce the recommendations of the existing practice guidelines while highlighting both persistent and novel discrepancies between parents and providers.

Rights

© 2020, Margaret Jean Wilkes

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