Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry.
Ontology highlight
ABSTRACT: Aim
Turner Syndrome (TS) is caused by partial or complete absence of the second sex chromosome in a phenotypic female. TS is associated with recognizable congenital anomalies and chronic health conditions. The principal objective of this study was to evaluate the health-related knowledge and insight of participants.Methods
In 2015, we founded the UTHealth Turner Syndrome Research Registry for longitudinal follow-up of individuals with TS. Study participants were recruited from UTHealth Houston clinics and the Turner Syndrome Society of the United States. Participants completed a questionnaire about demographics, karyotype, congenital anomalies, health history, frequency of contact with care providers, and knowledge of care providers about TS.Results
Forty percent of registry participants indicated that they did not know their karyotypes. Knowledge of karyotype, which can predict clinical outcomes in TS, markedly varied by self-reported race and ethnicity but not by age. Participants also reported significant gaps in routine medical and gynecologic care.Conclusion
We identified knowledge gaps and health disparities that could benefit from improved provider and patient education.
SUBMITTER: Donate P
PROVIDER: S-EPMC10398636 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry.
Donate Priscille P Rivera-Davila Michelle M Prakash Siddharth K SK
Rare disease and orphan drugs journal 20230316 1
<h4>Aim</h4>Turner Syndrome (TS) is caused by partial or complete absence of the second sex chromosome in a phenotypic female. TS is associated with recognizable congenital anomalies and chronic health conditions. The principal objective of this study was to evaluate the health-related knowledge and insight of participants.<h4>Methods</h4>In 2015, we founded the UTHealth Turner Syndrome Research Registry for longitudinal follow-up of individuals with TS. Study participants were recruited from UT ...[more]
Similar Datasets
Project description:BackgroundMany 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.ResultsTo 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.ConclusionIn 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.
| S-EPMC10929126 | biostudies-literature
Project description:Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life. The etiology of the increased risk of cardiometabolic conditions in TS is likely multifactorial, involving genetics, epigenetics, hypogonadism, medical comorbidities, medications, and lifestyle. Counseling for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS. Clinical practice guidelines are now available to guide screening and treatment of cardiometabolic conditions in girls and women with TS.
| S-EPMC7382389 | biostudies-literature
Project description: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.
| S-EPMC6697265 | biostudies-literature
Project description:AimThis study assessed lifestyle-related risk factors for cardiovascular disease in young women with Turner syndrome.MethodsIn 2012, we sent a questionnaire to women with Turner syndrome aged ≥18 years and living in Switzerland with questions on socio-demographic and medical data as well as health behaviour. We compared the reported lifestyle with that of women from the Swiss Health Survey 2012, a representative survey of the general population.ResultsFifty-seven per cent (45/79) of women with Turner syndrome answered the questionnaire (mean age: 24 years). Eighty per cent (36/45) had never smoked compared with 58% (1156/1972) of the general population (p < 0.01). Women with Turner syndrome engaged less often in binge drinking (34% vs. 71%) (p < 0.001), but consumed alcohol equally often as the general population (p = 0.327). They performed sports as often as the general population (p = 0.34), but only one quarter (11/45) of women with Turner syndrome adhered to official physical activity recommendations.ConclusionAlthough most women with Turner syndrome had a healthy lifestyle, only a minority had sufficient physical activity. Paediatricians should promote structured physical activity in girls with Turner syndrome from early childhood onwards to reduce their cardiovascular risk in adulthood and to increase long-term health-related quality of life.
| S-EPMC8359370 | biostudies-literature
Project description:Social epidemiologists often seek to determine the mechanisms that underlie health disparities. This work is typically based on mediation procedures that may not be justified with exposures of common interest in social epidemiology. In this analysis, we explored the consequences of using standard approaches, referred to as the difference and generalized product methods, when mediator-outcome confounders are associated with the exposure. We compared these with inverse probability-weighted marginal structural models, the structural transformation method, doubly robust g-estimation of a structural nested model, and doubly robust targeted minimum loss-based estimation. We used data on 900,726 births from 2003 to 2007 in the Penn Moms study, conducted in Pennsylvania, to assess the extent to which breastfeeding prior to hospital discharge explained the racial disparity in infant mortality. Overall, for every 1,000 births, 3.36 more infant deaths occurred among non-Hispanic black women relative to all other women (95% confidence interval: 2.78, 3.93). Using the difference and generalized product methods to assess the disparity that would remain if everyone breastfed prior to discharge suggested a complete elimination of the disparity (risk difference = -0.87 per 1,000 births; 95% confidence interval: -1.39, -0.35). In contrast, doubly robust methods suggested a reduction in the disparity to 2.45 (95% confidence interval: 2.20, 2.71) more infant deaths per 1,000 births among non-Hispanic black women. Standard approaches for mediation analysis in health disparities research can yield misleading results.
| S-EPMC4983649 | biostudies-literature
Project description:ObjectivesTurner syndrome (TS) is a rare sex chromosome aneuploidy, with an incidence of four in 10,000 new-born girls. TS is often associated with impaired social communication skills, but the extent to which these are attributable to Autism Spectrum Disorders (ASD) is uncertain. We made standardized assessments of the mental health and associated neurodevelopmental disorders in children and adolescents with TS and report on the prevalence of concurrent conditions.MethodsOur sample comprised 127 girls with TS, 5-19 years of age. We obtained reports of their mental health from a combination of diagnostic interview (the Development and Wellbeing Assessment (DAWBA)), from the Strengths and Difficulties Questionnaire (SDQ) and from the Social Responsiveness Scale (SRS-2). Sources of information included parents, teachers and self-reports. The prevalence of mental health disorders in this sample was compared with age/sex matched national English data from typical controls.ResultsMost individuals with TS (83%) had experienced significant social communication difficulties and nearly one in four (23%) met diagnostic criteria for ASD on the DAWBA. One-third (34%) had at least one mental health or neurodevelopmental condition, and those girls with an ASD were at a greater risk of a co-occurring emotional disorder and/or attention deficit hyperactivity disorder (ADHD).ConclusionChildren and adolescents with TS are substantially more likely to meet criteria for ASD than their typically developing peers. Our finding has clinical implications for appropriate behavioural management from preschool through to adolescence.
| S-EPMC9730007 | biostudies-literature
Project description:ObjectiveTo evaluate uterine development of women with Turner syndrome (TS) receiving conventional medical care.Study designIn a cross-sectional study we used ultrasonography for uterine evaluation in 86 women with TS 18 to 45 years of age participating in an intramural NIH study, and who had abnormal karyotypes in >70% of white blood cells. Outcomes were uterine dimensions and shape. Information on hormone treatment was obtained by personal interview.ResultsTwenty-five percent had a mature in size and shape uterus, and 31% had an immature uterus, with the remainder in a transitional category. Twenty percent of all participants were not taking hormone replacement therapy (HRT) in the preceding year. The majority on treatment were taking conjugated estrogens (CE) or oral contraceptives (OC). Factors associated with uterine maturity were history of spontaneous puberty and duration and type of HRT, with estradiol-based treatment being the most effective. The age at starting HRT was not a critical factor.ConclusionsWomen with TS may develop a normal uterus even at a late start of HRT given adequate duration of treatment and regardless of karyotype.
| S-EPMC2118059 | biostudies-literature
Project description:Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
| S-EPMC8141514 | biostudies-literature
Project description:Background and study aims
Lynch Syndrome (LS) is an inherited disorder that is associated with an increased risk of several cancers, particularly bowel cancer, as well as cancer of the womb. In the UK, there are only 6,000 known LS patients, however, it is estimated that there are about 176,000 undiagnosed cases. Given their high risk of bowel cancer, these patients require close monitoring, also known as ‘surveillance’, by colonoscopy - a thin tube with a camera on one end which is used to examine the bowel lining.
Despite national guidelines, the management of LS patients is not well-organised and varies significantly throughout the UK, so many of these patients are not getting the surveillance they need to protect against bowel cancer. To address this variability and to support the national guidelines, several experts in the field have called for a national registry to ensure that all LS patients have access to the timely surveillance they need.
In this study the researchers will develop an LS registry with multiple aims. It will be used to review and improve how LS patients are managed; it will provide data to better support the national screening programme's upcoming role in taking on and managing LS surveillance; and it will provide a unique resource to conduct and support future research into LS.
Who can participate:
LS patients who have previously taken part in the Cancer Prevention Project 3 (CaPP3) trial will be recruited from five sites in England over 9 months.
What does the study involve:
This small-scale initial study, known as a pilot study, will help to answer several important research questions around how LS patients are currently managed, as well as assisting with optimising the data collection process and functionality of the registry for both users and researchers.
Participation will involve completing and returning a baseline health questionnaire, followed by collecting surveillance data at the local hospital with additional data provided by NHS Digital. Data will be held on a secure and confidential database and in accordance with GDPR and Data Protection legislation. Further information will be available at the study website (https://lynchregistry.org.uk/) once the study is open to recruitment.
What are the possible risks and benefits of participating?
There are no risks of physical harm associated with taking part in this study. However, as the registry will be storing some personal information, there is a risk of a breach of confidentiality. The risks stemming from a data breach include; patient distress or loss of patient confidence and fraud by way of identity theft. To minimise the possibility of this occurring, several policies and procedures are in place to help protect participant information and to ensure that any personal information that could identify individuals remains strictly confidential. A data security policy is in place detailing precautions for safe operation such as encryption, access restrictions, security audits and secure software development practices. In the event that there is a breach of confidentiality, all participants will be notified.
There may not be an immediate direct benefit from joining the registry pilot study, but the information we get might help improve the treatment of people with Lynch Syndrome. As the national registry eventually becomes more established Lynch syndrome patients will benefit by being offered regular screening examinations, in line with the national guidelines. Additionally, the national registry will help to raise awareness of Lynch syndrome amongst clinical teams and promote future research projects and collaborations.
Where is the study run from?
Imperial College London (UK)
When is the study starting and how long is it expected to run for?
April 2020 to March 2024
Who is funding the study?
1. Cancer Research UK
2. 40tude (UK)
Who is the main contact?
Prof. Amanda Cross
amanda.cross@imperial.ac.uk
| 2718278 | ecrin-mdr-crc
Project description:BackgroundBlack patients with myocardial infarction (MI) have worse outcomes than white patients, including higher mortality rates, more angina, and worse quality of life. The Translational Research Investigating Underlying Disparities in Acute Myocardial Infarction Patients' Health Status (TRIUMPH) study was designed to examine whether racial differences in socioeconomic, clinical, genetic, metabolic, biomarker, or treatment characteristics mediate observed disparities in outcomes.Methods and resultsBetween April 11, 2005, and December 31, 2008, 31 567 patients with MI were prospectively screened; 6152 had an eligible MI, and 4340 (71%) were enrolled from 24 US centers. Consenting patients had detailed chart abstractions of their medical history and processes of inpatient care, supplemented with a detailed baseline interview. Detailed genetic and metabolic data were obtained at hospital discharge in 2979 (69%) and 3013 patients (69%), respectively. In a subset of patients, blood and urine samples were obtained at 1 month (obtained in 27% of survivors) and blood samples at 6 months (obtained in 19% of survivors). Centralized follow-up interviews sought to quantify patients' postdischarge care and outcomes, with a focus on their health status (symptoms, function, and quality of life). At 1, 6, and 12 months, 23%, 27%, and 24%, respectively, were lost to follow-up. Vital status was available for 99% of patients at 12 months.ConclusionsTRIUMPH is a novel MI registry with detailed information on patients' sociodemographic, clinical, treatment, health status, metabolic, and genetic characteristics. The wealth of patient data collected in TRIUMPH will provide unique opportunities to examine factors that may mediate racial differences in mortality and health status after MI and the complex interactions between genetic and environmental determinants of post-MI outcomes.
| S-EPMC3376532 | biostudies-literature