Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry

Kanakatti Shankar, Roopa; Carl, Alexandra; Law, Jennifer R.; Bamba, Vaneeta; Brickman, Wendy J.; Prakash, Siddharth K.; Dowlut McElroy, Tazim; Howell, Susan; Gutmark Little, Iris; Klein, Karen O.; Pinnaro, Catherina T.; Ranallo, Kelly; Good, Marybel; Davis, Shanlee M.

doi:10.1002/ajmg.a.63441

Cited by 5 publications

(1 citation statement)

References 16 publications

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“…Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) is a contemporary TS registry that is administered at the University of Colorado Anschutz Medical Campus [ 16 ]. InsighTS and the TSRR were intentionally designed to provide complementary snapshots of TS life experiences.…”

Section: Discussionmentioning

confidence: 99%

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Mansoorshahi,

Scurlock,

Research Registry

et al. 2024

Orphanet J Rare Dis

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Background Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research. In 2015, the Turner Syndrome Society of the United States (TSSUS) created the Turner Syndrome Research Registry (TSRR) to engage directly with community participants who voluntarily provide longitudinal data about their experiences with TS. TSRR projects are collaborative partnerships between people with TS, TSSUS, and researchers. Results To ensure that registry workflows conform to the data privacy choices of participants, TSSUS collaborated with UTHealth Houston in 2021 to create a new version of the TSRR that completely separates participant health data (stored at UTHealth) and personal identifiers (maintained at TSSUS). We developed an innovative Visual Basic (VB) script that, when embedded into Microsoft Outlook, redirects REDCap surveys through TSSUS to participants by matching registry IDs to participant email addresses. Additionally, the utilization of REDCap allows for portability of data as it is an open source platform. Conclusion In this report, we will highlight three recent changes that more closely align the TSRR with this mission: a unique and equal collaborative partnership between UTHealth and TSSUS, an open-source platform, REDCap, that ensures data portability and compatibility across institutions, and an innovative survey routing system that retains participant confidentiality without sacrificing REDCap survey distribution capabilities to connect researchers with thousands of participants.

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Section: Discussionmentioning

confidence: 99%

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Mansoorshahi,

Scurlock,

Research Registry

et al. 2024

Orphanet J Rare Dis

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Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care

Carl,

Good,

Haag

et al. 2024

American J of Med Genetics Pt A

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Turner syndrome (TS), caused by complete or partial loss of the second sex chromosome, is associated with complex medical manifestations. The TS community identifies anxiety as a major contributor to reduced quality of life. The study aimed to improve understanding of anxiety symptomatology, diagnosis, and care in individuals with TS. A mixed methods design integrated community engagement, including community leaders as co‐investigators and a community advisory board, an online survey (N = 135), and in‐depth interviews (N = 10). The majority of respondents reported that anxiety symptoms occur two or more days per week, with self‐advocates reporting more frequent symptoms than caregivers (p = 0.03). Self‐advocates reported feeling anxious more often at school/work; both rater groups reported anxiety‐related behaviors were most likely to be expressed at home. Insomnia was the most common symptom of anxiety endorsed across age and rater groups (>70%). Anxiety symptoms and triggers changed with age and often were undiagnosed or untreated during childhood. Therapy and medication were reported as helpful by most respondents who had tried these strategies. Qualitative themes included: ‘Triggers for anxiety are related to TS’, ‘Anxiety impacts the whole family’, and ‘Opportunities for early identification and intervention’.

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Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry

Klamut,

Bothwell,

Carl

et al. 2024

American J of Med Genetics Pt A

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Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or 45,X/46,XX/47,XXX) (~3% of TS). We compared the diagnostic, perinatal, medical, and neurodevelopmental comorbidities of mosaic 45,X/47,XXX (n = 35, 9.4%) with nonmosaic 45,X (n = 142) and mosaic 45,X/46,XX (n = 66). Females with 45,X/47,XXX had fewer neonatal concerns and lower prevalence of several TS‐related diagnoses compared with 45,X; however the prevalence of neurodevelopmental and psychiatric diagnoses were not different. Compared to females with 45,X/46,XX, the 45,X/47,XXX group was significantly more likely to have structural renal anomalies (18% vs. 3%; p = 0.03). They were twice as likely to have congenital heart disease (32% vs. 15%, p = 0.08) and less likely to experience spontaneous menarche (46% vs. 75% of those over age 10, p = 0.06), although not statistically significant. Congenital anomalies, hypertension, and hearing loss were primarily attributable to a higher proportion of 45,X cells, while preserved ovarian function was most associated with a higher proportion of 46,XX cells. In this large TS cohort, 45,X/47,XXX was more common than previously reported, individuals were phenotypically less affected than those with 45,X, but did have trends for several more TS‐related diagnoses than individuals with 45,X/46,XX.

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Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry

Cited by 5 publications

References 16 publications

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry

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