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

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'.

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

Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry is a national, multicenter registry for individuals with Turner syndrome (TS) designed to collect and store validated longitudinal clinical data from a diverse cohort of patients with TS. Herein, we describe the rationale, design, and approach used to develop the InsighTS registry, as well as the demographics of the initial participants to illustrate the registry's diversity and future utility. Multiple stakeholder groups have been involved from project conceptualization through dissemination, ensuring the registry serves the priorities of the TS community. Key features of InsighTS include recruitment strategies to facilitate enrollment of participants that appropriately reflect the population of individuals with TS receiving care in the US, clarity of data ownership and sharing, and sustainability of this resource. The registry gathers clinical data on diagnosis, treatment, comorbidities, health care utilization, clinical practices, and quality of life with the goal of improving health outcomes for this population. Future directions include multiple patient-centered clinical-translational research projects that will use the InsighTS platform. This thorough and thoughtful planning will ensure InsighTS is a valuable and sustainable resource for the TS community for decades to come.

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.

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.

Impact of age and cyclooxygenase inhibition on the hemodynamic response to acute cognitive challenges.

Structural and functional changes in the cerebral vasculature occur with advancing age, which may lead to impaired neurovascular coupling (NVC) and cognitive decline. Cyclooxygenase (COX) inhibition abolishes age-related differences in cerebrovascular reactivity, but it is unclear if COX inhibition impacts NVC. The purpose of this study was to examine the influence of aging on NVC before and after COX inhibition. Twenty-three young (age = 25 ± 4 yr) and 21 older (age = 64 ± 5 yr) adults completed two levels of difficulty of the Stroop and n-back tests before and after COX inhibition. Middle cerebral artery blood velocity (MCAv) was measured using transcranial Doppler ultrasound and mean arterial blood pressure (MAP) was measured using a finger cuff. Hemodynamic variables were measured at rest and in response to cognitive challenges. During the Stroop test, older adults demonstrated a greater increase in MCAv (young: 2.2 ± 6.8% vs. older: 5.9 ± 5.8%; P = 0.030) and MAP (young: 2.0 ± 4.9% vs. older: 4.8 ± 4.9%; P = 0.036) compared with young adults. There were no age-related differences during the n-back test. COX inhibition reduced MCAv by 30% in young and 26% in older adults (P < 0.001 for both). During COX inhibition, there were no age-related differences in the percent change in MCAv or MAP in response to the cognitive tests. Our results show that older adults require greater increases in MCAv and MAP during a test of executive function compared with young adults and that any age-related differences in NVC were abolished during COX inhibition. Collectively, this suggests that aging is associated with greater NVC necessary to accomplish a cognitive task.

Awareness of and reactions to the health harms of sugary drinks: An online study of U.S. parents.

Evidence about the health problems associated with sugary drink consumption is well-established. However, little is known about which sugary drink health harms are most effective at changing consumers' behavior. We aimed to identify which harms people were aware of and most discouraged them from wanting to buy sugary drinks. Participants were a national convenience sample of diverse parents (n = 1,058), oversampled for Latino parents (48%). Participants rated a list of sugary drink-related health harms occurring in children (7 harms) and in adults (15 harms). Outcomes were awareness of each harm and how much each harm discouraged parents from wanting to purchase sugary drinks. Most participants were aware that sugary drinks contribute to tooth decay in children (75%) and weight gain in both children (73%) and adults (69%). Few participants were aware that sugary drinks contribute to adult infertility (16%), arthritis (18%), and gout (18%). All health harms were rated highly in terms of discouraging parents from wanting to buy sugary drinks (range: 3.59-4.11 on a 1-5 scale), with obesity, pre-diabetes, and tooth decay eliciting the highest discouragement ratings. Harm-induced discouragement was higher for participants who were aware of more health harms (B = 0.05, p < 0.0001), identified as female (B = 0.15 compared to male, p = 0.02), or had an annual household income of $50,000 or more (B = 0.16 compared to less than $50,000, p = 0.03). These findings suggest health messages focused on a variety of health harms could raise awareness and discourage sugary drink purchases.

Research Priorities of Individuals and Families with Sex Chromosome Aneuploidies.

Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47,XXY), Turner syndrome (45,X and variants), Double Y syndrome (47,XYY), Trisomy X (47,XXX), and rarer tetrasomies and pentasomies. Individuals with SCAs experience a wide variety of physical health, mental health, and healthcare experiences that differ from the standard population. To understand the priorities of the SCA community we surveyed participants in two large SCA registries, the Inspiring New Science in Guiding Healthcare in Turner Syndrome (INSIGHTS) Registry and the Generating Advancements in Longitudinal Analysis in X and Y Variations (GALAXY) Registry. 303/629 (48.1% response rate) individuals from 13 sites across the United States responded to the survey, including 251 caregivers and 52 self-advocates, with a range of ages from 3 weeks to 73 years old and represented SCAs including Turner syndrome, XXX, XXY, XYY, XXYY, and combined rare tetrasomies and pentasomies. Results demonstrate the priorities for physical health and emotional/behavioral health identified by the SCA community, as well as preferred types of research. All SCA subtypes indicated intervention studies as the top priority, emphasizing the need for researchers to focus on clinical treatments in response to priorities of the SCA community.

Information needs and health status in adolescents and young adults with differences of sex development or sex chromosome aneuploidies.

INTRODUCTION: When and how to provide condition-related information to adolescents and young adults (AYAs) with differences of sex development or sex chromosome aneuploidies (DSDs or SCAs) is largely based on anecdotal experience and lacks informed guidance. For AYAs with a DSD or SCA, having accurate information is critical for attaining optimal adjustment and well-being, participating in decision making related to treatment options, and transitioning successfully to adult health care, yet prior studies have focused exclusively on parental perspectives and not on the views of adolescents themselves. OBJECTIVE: The objective of this study was to describe unmet information needs in AYAs with a DSD or SCA and examine associations with perceived global health. METHODS: Participants were recruited from specialty clinics at Children's Hospital of Philadelphia (n = 20) and Children's Hospital Colorado (n = 60). AYAs ages 12-21 years with a DSD or SCA and a parent completed a survey assessing perceived information needs across 20 topics, importance of those topics, and global health using the PROMIS Pediatric Global Health questionnaire (PGH-7). RESULTS: AYAs had diagnoses of Klinefelter syndrome (41%), Turner syndrome (25%), and DSD (26%) and were 16.7 years (SD = 2.56) and 44% female. Parent participants were primarily mothers (81%). AYAs perceived that 48.09% of their information needs were unmet (SD = 25.18, range: 0-100). Parents perceived that 55.31% of AYAs' information needs were unmet (SD = 27.46 range: 5-100). AYAs and parents across conditions reported unmet needs related to information about transition to adult health care, financial support for medical care, and how the condition might affect the AYA's health in the future. While AYA-reported PGH-7 scores were not associated with percentage of AYA unmet information needs, parent-reported PGH-7 scores were (r = -.46, p < .001), such that lower parent-reported global health was associated with higher percentage of AYA unmet information needs. DISCUSSION/CONCLUSION: On average, parents and AYAs perceived that half of AYAs' information needs were unmet, and a higher percentage of AYA unmet information needs was associated with lower perceived global health. The frequency of unmet needs in this sample of AYAs reflects an opportunity for improvement in clinical care. Future research is needed to understand how education to children and AYAs unfolds as they mature and to develop strategies to address the information needs of AYAs with a DSD or SCA, promote well-being, and facilitate AYA engagement in their own health care.

Exploring Parent-gender Differences in Parent and Adolescent Reports of the Frequency, Quality, and Content of Their Sexual Health Communication.

Parent-adolescent sexual health communication (SHC) is a protective factor that can reduce adverse adolescent sexual health outcomes, and the frequency, quality, and content of SHC predicts its effectiveness. However, research on this topic has been limited in scope, overwhelmingly focused on mothers; and often has only included the parent or adolescent perspective, not both members of the dyad. Using secondary cross-sectional data, this study used ANCOVA, logistic regression, correlational, and chi-square analyses to investigate parent-gender differences in parent-adolescent SHC. Participants included 341 parent-adolescent dyads. Compared to fathers, mothers rated parent-adolescent SHC as more important and more comfortable, and had greater self-efficacy for and fewer reservations about SHC than fathers. Mothers also reported talking more frequently and more broadly with their child about sexual health than fathers. Adolescent-reported frequency, quality, and content of parent-adolescent SHC did not differ significantly by parent gender, except for one sexual health topic. Dyadic analyses revealed that mothers and their children tended to agree more in their reports of parent-adolescent SHC than fathers and their children. These findings suggest that fathers may need additional resources to help them confidently engage in effective parent-adolescent SHC.

Differences in Patient and Parent Informant Reports of Depression and Anxiety Symptoms in a Clinical Sample of Transgender and Gender Diverse Youth.

Purpose: We assessed characteristics of patients at a pediatric gender clinic and investigated if reports of mental health concerns provided by transgender and gender diverse (TGD) youth patients differed from reports provided by a parent informant on their behalf. Methods: This cross-sectional study included 259 TGD patients 8 to 22 years of age attending a pediatric gender clinic in the southeast United States from 2015 to 2020. Pearson correlations and paired sample t-tests compared patient-reported mental health concerns at patient intake with those provided by a parent informant. Clinical symptom severity was assessed with standardized T-scores. Level 2 Patient-Reported Outcomes Measurement Information System (PROMIS) Emotional Distress-Depression Scale and Level 2 PROMIS Emotional Distress-Anxiety Scale assessed depression and anxiety symptoms of patients. Diagnostic and Statistical Manual of Mental Disorders Fifth Edition Parent/Guardian-Rated Level 1 Cross-Cutting Symptom Measure was used with parents. Results: Patients had a mean age of 14.9 at first visit, with most identifying as White (85.5%), non-Hispanic (91.1%), and as a boy or man (63.6%). Half had moderate-to-severe depression (51.2%) or anxiety (47.9%) symptoms. There was a moderate, positive correlation between patient-reported and parent-reported depression symptoms, with no correlation for anxiety symptoms. Informant type differences were statistically significant (patients reporting greater depression and anxiety symptoms). Conclusions: TGD youth patients reported more severe depression and anxiety symptoms compared with parent informants. Despite moderate agreement on depression symptoms, parents did not accurately detect their child's anxiety symptoms. These discrepancies highlight a need for interventions which increase parental recognition of child mental health status.