2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-'Don't Paint Us All with the Same Brush': Information Needs in Adolescents with Differences of Sex Development

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The document discusses a study on the information needs of adolescents with Differences of Sex Development (DSD). DSD occurs in approximately 1 in 100 births and includes conditions such as Klinefelter syndrome, Turner syndrome, and congenital adrenal hyperplasia. The study aimed to compare the perceptions of adolescents and caregivers regarding the adolescents' unmet information needs and the importance of medically-related topics.<br /><br />The study used a mixed methods, cross-sectional survey involving 80 adolescent-caregiver dyads. The adolescents were aged 12-21 and had a DSD diagnosis. The results showed that adolescents and caregivers agreed on the top 2 categories where adolescents needed much more information. However, most topics were rated differently and of different importances between the two groups. Both groups agreed on approximately 50% overall unmet information needs. Topics that were rated as needing much more information were ranked as highly important by both groups.<br /><br />The study also found that caregiver-reported overall unmet information needs were negatively associated with caregiver-perceived health-related quality of life (HRQOL). The study had some limitations, such as being conducted at only two academic sites and having a low completion rate of full dyads.<br /><br />The study suggests that genetic counselors should provide individualized education and support to address the needs of both adolescents and caregivers. It also emphasizes the importance of personalizing conversations with adolescents about their transition to adult healthcare and financial support. The study suggests developing clinical assessment tools and educational resources to facilitate successful adolescent transition and conducting future studies with larger and more diverse cohorts to better understand unmet information needs by diagnosis.<br /><br />Overall, the study highlights the need for tailored information and support for adolescents with DSD and their caregivers to improve their health-related quality of life.

Asset Subtitle

Presenting Author - Christina Miller, Graduate Student; Co-Author - Cindy Buchanan, PhD; Co-Author - Susan Howell, MS, CGC, MBA; Co-Author - Maria G. Vogiatzi, MD; Co-Author - Victoria Miller, PhD; Co-Author - Alexandra Carl, MS; Co-Author - Sophia Strine, BS; Co-Author - Shanlee Davis, MD, PhD;

Meta Tag

Chromosomal Abnormalities

Clinical History

Counseling

Education

Genetic Testing

Natural History

Phenotype

Psychosocial Counseling Issues

Psychosocial Issues

Co-Author Cindy Buchanan, PhD

Co-Author Susan Howell, MS, CGC, MBA

Co-Author Maria G. Vogiatzi, MD

Co-Author Victoria Miller, PhD

Co-Author Alexandra Carl, MS

Co-Author Sophia Strine, BS

Co-Author Shanlee Davis, MD, PhD

Presenting Author Christina Miller, Graduate Student

Keywords

Differences of Sex Development

DSD

adolescents

caregivers

unmet information needs

health-related quality of life

genetic counselors

transition to adult healthcare

clinical assessment tools

tailored information