Date of Award

Spring 2023

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Crystal Hill-Chapman

Abstract

This study aimed to assess preferences of adults with Turner Syndrome (TS) regarding provider disclosure and discussion of potential neurodevelopmental or psychiatric features.

Fifty-six individuals with TS completed an online survey. Questions were asked about their TS diagnosis and provider involvement, neurodevelopmental and psychiatric diagnoses, and preferences concerning providers’ disclosure regarding these possible non-physical features.

Sixteen individuals reported a formal neurodevelopmental diagnosis. Furthermore, 46 respondents reported personal suspicion of ADHD, math difficulties, weaker non-verbal or visual-spatial skills, intellectual disability, or autism spectrum disorder. Thirty-five individuals had a formal diagnosis of at least one psychiatric condition. The preferred providers to initiate this conversation were pediatricians or primary care providers, endocrinologists, or genetic providers. Most individuals preferred that this discussion happens around the time of diagnosis or in late childhood/early adolescence. Lastly, 75% of participants stated that genetics providers should be involved in these conversations.

Participants desired an age-appropriate discussion surrounding possible neurodevelopmental or psychiatric features. This study suggests that several different providers can initiate this conversation. Genetics providers should be involved by giving a complete overview of the condition and providing ongoing care or referrals to other specialists.

Rights

© 2023, Elizabeth Pancake

Download

Share

COinS