Date of Award

6-30-2016

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Richard Ferrante

Abstract

The transition to adult-centered healthcare is a critical period for emerging adults, especially those with special healthcare needs (SHCNs). Considering the ongoing medical monitoring necessary for women with Turner syndrome (TS), it is essential that the transition process be comprehensive and well-coordinated. The aims of this study were to invite young women with TS to reflect on their healthcare transition experiences, to explore participants’ perceived control of their medical management, and to identify ways in which genetic counselors can be involved in multidisciplinary healthcare teams. The hypotheses were that young women with TS are motivated to learn more about their diagnosis, benefit from counseling on how to develop self-management skills, and believe it would be useful to speak with a genetic counselor as adolescents.

Study participants included twenty-two women between the ages of 18 and 30 years with a diagnosis of TS. A mixed method study design was used, consisting of quantitative data collection via an online survey tool and follow-up qualitative interviews. Interviews were transcribed and reviewed for major themes using data driven coding and subsequent exploratory thematic analysis. Results demonstrated that participants who received counseling on the development of self-management skills as adolescents were more confident, independent, and satisfied with their transition to adult-centered medical care than participants who did not. Six major themes were identified in participant interviews. These included diagnosis disclosure, TS education, genetics knowledge, transition support, patient autonomy, and multidisciplinary care.

In conclusion, young adult women with TS are highly motivated to achieve autonomy in their healthcare and would appreciate being given additional information about their condition at a younger age. Healthcare providers should carefully consider patient preferences in order to provide patients with optimal support and appropriate resources. New recommendations for clinical practice should incorporate involvement of genetic counselors in the multidisciplinary healthcare teams of girls and women with TS.

Rights

© 2016, Molly Elizabeth Snyder

Included in

Genetics Commons

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