Research priorities of people living with Turner syndrome
Open accessAbstract
Despite major discoveries, traditional biomedical research has not always addressed topics perceived as priorities by patients and their families. Patient-centered care is predicated on research taking such priorities into account. The present study surveyed women with Turner syndrome (TS; 18+ years; n = 543), parents of women with TS (n = 232), and parents of younger daughters with TS (<18 years; n = 563), regarding their priorities for research. The study also included a quantitative audit of research categorized as either predominantly biomedical or psychological in the medical and other scientific literature. The overwhelming majority of all surveyed stakeholders (84% and higher) rated both biomedical and psychological research in TS as "very important," yet only approximately 9% of published research focused on psychological aspects of TS. The odds of women with TS identifying psychological research as "most important" was significantly lower (OR: 0.607; 95% CI: 0.375, 0.982] than the odds of parents making the same prioritization. Despite the majority of participants rating research as very important, only approximately half-rated participation in research as similarly important. The majority of respondents in all three groups (59%-73%) indicated they would "very likely" participate in research pertaining to eating or nutrition, quality of life, or genetic studies in TS. Substantially fewer expressed similar eagerness to participate in studies involving the study of a new medicine or medical device. Increased engagement of patient and family stakeholders in research requires that investigators select topics of study important to that community.
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Despite the willingness of women and parents of individuals with TS to participate in research related to eating and/or nutrition, there is a paucity of research in this area.
“Despite the willingness of women and parents of individuals with TS to participate in research related to eating and/or nutrition,710 there is a paucity of research in this area.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [710]
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Cites
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Self-citationStreur, C. S., Floody, E. A., Lapham, Z. K., & Sandberg, D. E. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62564 · Cited by 6 · see citing works
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- Authors
- Sandberg, D. E., Singer, D., Bugajski, B., Gebremariam, A., Scerbak, T., Dooley Maley, K. L., Scurlock, C., Culin, D., Eder, S., & Silberbach, M.
- Affiliations
- University of Michigan (US)
- Turner Syndrome Society of the United States Houston Texas
- Turner Syndrome Global Alliance (US)
- Oregon Health & Science University (US)
- Corresponding author
- Sandberg, David E.
- Venue
- American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2019-02-15
- Volume
- 181
- Issue
- 1
- Pages
- 13-21
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- PMC
- PMC6697265
- OpenAlex
- W2913991931
- Cited by
- 20
- References
- 7
- Citations by year
- 2025: 7 · 2024: 5 · 2023: 3 · 2022: 2 · 2021: 1 · 2020: 1 · 2019: 1
- FWCI
- 1.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD093450, R13 HD096857)
- Topics
- Health Sciences › Health Professions › General Health Professions › Mental Health and Patient Involvement
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- Turner syndrome, research priorities, patient-oriented research, psychology research, biomedical research, research participation, quality of life, genetic research
- MeSH terms
- Adolescent, Adult, Female, Humans, Patient Participation, Surveys and Questionnaires, Research, Turner Syndrome, Young Adult
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