The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents

• Published in: American journal of medical genetics. Part A Vol. 188; no. 2; pp. 400 - 413
• Main Authors: Streur, Courtney S., Floody, Emilia A., Lapham, Zoe K., Sandberg, David E.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.02.2022; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adults; Delivery of Health Care; Female; Genetic disorders; Girls; Health care; healthcare delivery; Humans; Parents; Primary care; Surveys and Questionnaires; transition to adult care; Turner syndrome; Turner Syndrome - genetics; Turner Syndrome - therapy; Turner's syndrome; Young Adult; Young adults; transition to adult care; Turner syndrome; healthcare delivery
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.62564

Transitioning to adult health care and functioning is crucial for youth and young adults with special health care needs, such as those with Turner syndrome (TS). The International Turner Syndrome Consensus Group developed clinical practice guidelines to improve this transition. This study sought to evaluate how effectively they have been implemented and whether they align with the priorities of women with TS and families of girls and women with TS. A web‐based survey was offered to those affiliated with major TS support organizations, with 1338 successfully responding (n = 543 women [≥18 years]; n = 232 parents of a woman [≥18 years]; and n = 563 parents of a girl with TS [<18 years]). Findings demonstrated that while most women transitioned to adult primary care providers, follow‐up with key specialists was lacking. Women and families prioritized flexibility in appointments and designating one provider to oversee all their TS‐related care. They identified health care coverage as a barrier to receiving care. The transition process to adult care and independence commonly occurred after girls become legal adults. Together, these findings serve to inform strategies to improve the delivery of transitional care for girls and women with TS.