Date of Award

8-16-2024

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Crystal Hill Chapman

Abstract

Transitioning to adult care services is a crucial time for young adults with a genetic condition. Many of these conditions are diagnosed early in childhood, with follow-up care fragmented and dependent on the specific needs of the individual. Williams syndrome (WS) is a complex genetic condition characterized by multisystemic features. The variation in the clinical presentation of adults with WS can influence the individual’s ability to transition from pediatric care because of its medical complications, variable and poorly characterized psychiatric needs, and intellectual disability that causes difficulty communicating health-related needs to providers. This study focused on understanding the needs of adults with WS and their caregivers during adulthood and the current landscape of transitional health care for these families. An electronic survey was distributed to caregivers of adults with WS over age 18 to provide insights into the care accessed and resources desired. Following the survey, virtual paired interviews were completed with an adult with WS and their caregiver. There were 177 survey responses from caregivers with 97 analyzed and 8 virtual, paired interviews completed. Descriptive and comparative statistical analyses were performed. Free-response questions and interviews were transcribed, and a ground theory approach was performed for thematic analysis. Over 45% of caregivers reported being dissatisfied with the adult with WS care, with the most dissatisfaction with mental health care (63.9%). Both caregivers and adults with WS noted improvements in satisfaction of care and perceived provider knowledge about WS when they were involved with a WS clinic, were provided resources on the transitional process, and received information on adult health issues. These findings highlight the importance of continued support and education for adults with WS and their caregivers. We make several recommendations based on this study including increasing access to WS clinics, providing open communication with adults with WS, and expanding practice guidelines to address adult health needs. Future research should continue exploring the WS community's needs during the transition to adult health care.

Rights

© 2024, Andrea Johnson

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