"Down Syndrome is Not a Curse": parent Perspectives on the Medicalization of Down Syndrome.

BACKGROUND: Potential clinical interventions to mitigate or eliminate symptoms of Down syndrome (DS) continue to be an active area of pre-clinical and clinical research. However, views of members of the DS community have yet to be fully explored. METHODS: We conducted a survey with parents/caregivers of people with DS (n = 532) to explore interest in potential therapeutic approaches during fetal development or childhood that may improve neurocognition and modulate the DS phenotype. We qualitatively analyzed open-ended responses. RESULTS: Some respondents rejected the development of therapies for DS categorically as being fundamentally ableist and promoting the erasure of diverse individuals. Many reflected tensions between the desire to improve quality of life and an aversion to erasure of a child's personality. CONCLUSION: Findings suggest that views on identity, personality, and disability may influence the acceptance of new interventions, especially if they are thought to mitigate positive attributes of the phenotype or negatively influence social acceptance of people with DS.

Prenatal and pediatric approaches to reduce the signs of Down syndrome are being investigated.Parents of children with Down syndrome expressed conflicted feelings about the idea of removing signs of Down syndrome from their child.Many parents expressed that Down syndrome was a valued part of their child and should not be taken away.Findings suggest that greater communication between the Down syndrome community and the research community is necessary to ensure that research aligns with their values and priorities of the patient community.

Through the eyes of Spanish-speaking patients, caregivers, and community leaders: a qualitative study on the in-patient hospital experience.

BACKGROUND: Spanish-speakers with non-English language preference and complex medical needs suffer disparities in quality of care, safety, and health outcomes. Communication challenges during prolonged hospitalizations for complex illnesses negatively influence how this group engages in their care and decision-making while hospitalized. Limited literature capturing the perspectives of Spanish-speaking patients in this context exists. Given the impact of language barriers on care and medical decision-making, this study documents the experiences of Spanish-speaking patients with NELP and hospitalized with complex care needs as well as caregivers and community leaders. METHODS: Using community-engaged recruitment strategies and semi-structured interviews and a focus group, we gathered insights from Spanish-speaking patients hospitalized for prolonged periods, caregivers, and community leaders from three geographic regions. Data were deidentified, transcribed, translated, coded in duplicate, and analyzed guided by grounded theory using NVivo. RESULTS: We interviewed 40 participants: 27 patients, 10 caregivers and 3 community leaders. We identified four major themes: (1) Disconnected experiences impeding interactions, communication, and decision-making (2) Inadequate interpreter services (3) Benefits and consequences of family at the bedside (4) Community -informed recommendations. CONCLUSION: The study showed that in-person interpreters were preferred to virtual interpreters; yet interpreter access was suboptimal. This resulted in ad hoc family interpretation. Participants noted language negatively impacted patient's hospital experience, including decreasing confidence in medical decision-making. Recommendations from patients, caregivers, and community leaders included expanding interpreter access, bolstering interpreter quality and accuracy, and increasing resources for patient education.

Second Victim Experiences of Health Care Learners and the Influence of the Training Environment on Postevent Adaptation.

Objective: To investigate the experience of medical and graduate learners with second victim experience (SVE) after medical errors or adverse patient outcomes, including impact on training and identification of factors that shape their postevent recovery. Patients and Methods: The validated Second Victim Experience and Support Tool-Revised (SVEST-R), Physician Well-Being Index, and supplemental open-ended questions were administered to multidisciplinary health care learners between April 8, 2022, and May 30, 2022, across a large academic health institution. Open-ended responses were qualitatively analyzed for iterative themes related to impact of SVE on the training experience. Results: Of the 206 survey respondents, 144 answered at least 1 open-ended question, with 62.1% (n=91) reporting at least 1 SVE. Participants discussed a wide range of SVEs and indicated that their postevent response was influenced by their training environment. Lack of support from supervisors and staff exacerbated high stress situations. Some trainees felt blamed and unsupported after a traumatic experience. Others emphasized that positive training experiences and supportive supervisors helped them grow and regain confidence. Learners described postevent processing strategies helpful to their recovery. Some, however, felt disincentivized from seeking support. Conclusion: This multidisciplinary study of learners found that the training environment was influential in postevent recovery. Our findings support the need for the inclusion of education on SVEs and adaptive coping mechanisms as part of health care professional educational curriculums. Educators and health care staff may benefit from enhanced education on best practices to support trainees after stressful or traumatic patient events.

"In our community, we normalize pain": discussions around menstruation and uterine fibroids with Black women and Latinas.

BACKGROUND: Uterine fibroids are non-cancerous neoplasms that arise from the uterus affecting over 75% of women. However, there is a disparity with Black women having an increased prevalence of nearly 80%. Black women also experience increased symptom burden, including younger age at the time of diagnosis and increased number and volume of fibroids. Less is known about other ethnoracially diverse women such as Latinas and the potential cultural impacts on fibroid burden and treatment. METHODS: Community engagement studios were conducted to facilitate discussions with stakeholders on their uterine fibroid and menstruation experience. We recruited Black women (n = 6) diagnosed with uterine fibroids and Latinas (n = 7) without uterine fibroids. We held two virtual community engagement studios split by uterine fibroid diagnosis. The studios were not audio recorded and notes were taken by four notetakers. The notes were thematically analyzed in Atlas.ti using content analysis. RESULTS: Participants felt there was a lack of discussion around menstruation overall, whether in the home or school settings. This lack of menstruation education was pronounced when participants had their first menstruation experience, with many unaware of what to expect. This silence around menstruation led to a normalization of painful menstruation symptoms. When it came to different treatment options for uterine fibroids, some women wanted to explore alternative treatments but were dismissed by their healthcare providers. Many participants advocated for having discussions with their healthcare provider about life goals to discuss different treatment options for their uterine fibroids. CONCLUSION: Despite uterine fibroid diagnosis, there is silence around menstruation. Menstruation is a normal biological occurrence and needs to be discussed to help prevent delayed diagnosis of uterine fibroids and possibly other gynecological disorders. Along with increased discussions around menstruation, further discussion is needed between healthcare providers and uterine fibroid patients to explore appropriate treatment options.

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.

BACKGROUND: The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences. METHODS: We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords "genetic diagnosis delivery," "genetic diagnosis disclosure," "sex chromosome aneuploidy," "Klinefelter syndrome" or ""47, XXY," "Jacob syndrome" or "47, XYY," "Trisomy X," "Triple X" or "47, XXX," and "48 XXYY from January 1, 2000, to October 31, 2023. RESULTS: Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis. CONCLUSION: Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.

Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022.

A 2003 survey revealed the scope of mothers' dissatisfaction with their postnatal support following a diagnosis of Down syndrome (DS). Substantial proportions of mothers reported that providers conveyed diagnoses with pity, emphasized negative aspects of DS, and neglected to provide adequate materials explaining DS. This study follows up on the 2003 survey by assessing whether parents' experiences have improved. Four DS nonprofit organizations, which participated in the original study, distributed a mixed-methods survey to families who have had children with DS between 2003 and 2022. Quantitative analysis assessed correlations among responses and differences between the 2003 and 2022 survey groups. Open-ended responses were qualitatively analyzed. Compared to the 2003 findings, parents' perceptions of their postnatal care have not improved (N = 89). Parents are increasingly likely to report that their providers pitied them, omitted positive aspects of DS, and provided insufficient materials describing DS. Substantial proportions of parents reported fear (77%) and anxiety (79%), only 24% described receiving adequate explanatory materials, and parents were 45% likelier to report that physicians discussed negative aspects of DS than positive aspects. Qualitatively, substantial numbers of parents recounted insensitive conduct by providers. These results suggest that despite interventions, parents' experiences of postnatal diagnoses of DS have not improved over time. Certain provider behaviors-such as describing positive aspects of DS and providing comprehensive explanatory materials-can reduce fear and anxiety, pointing to directions for reform.

Psychological reactance, misinformation, and distrust: A mixed methods analysis of COVID-19 vaccine uptake.

Background: Assessing perceptions of the COVID-19 vaccines is essential for understanding vaccine hesitancy and for improving uptake during public health emergencies. In the complicated landscape of COVID-19 vaccine mandates and rampant misinformation, many individuals faced challenges during vaccination decision-making. The purpose of our mixed methods study is to elucidate factors affecting vaccine decision-making and to highlight the discourse surrounding the COVID-19 vaccines in diverse and underserved communities. Methods: This mixed methods study was conducted in Arizona, Florida, Minnesota, and Wisconsin between March and November 2021, combining a cross-sectional survey (n = 3593) and focus groups (n = 47). Results: The groups least likely to report receiving a vaccination were non-Hispanic Whites, Indigenous people, males, and those with moderate socioeconomic status (SES). Those indicating high and low SES reported similar vaccination uptake. Focus group data highlighted resistance to mandates, distrust, misinformation, and concerns about the rapid development surrounding the COVID-19 vaccines. Psychological reactance theory posits that strongly persuasive messaging and social pressure can be perceived as a threat to freedom, encouraging an individual to take action to restore that freedom. Conclusion: Our findings indicate that a subsection of participants felt pressured to get the vaccine, which led to weaker intentions to vaccinate. These results suggest that vaccine rollout strategies should be reevaluated to improve and facilitate informed decision-making.

Patient experiences with prenatal cell-free DNA screening in a safety net setting.

OBJECTIVES: Thirty-five states, including Florida, now cover cell-free DNA (cfDNA) screening of fetuses for all pregnant patients enrolled in state public insurance programs. We interviewed Black and Hispanic obstetric patients at a safety net clinic in Florida shortly after the state rolled out cfDNA as a first-tier screening method for publicly insured patients. METHODS: Black and Hispanic patients receiving prenatal care from a prenatal or maternal fetal medicine clinic at a federally qualified health center in Jacksonville, FL were invited to participate in a qualitative interview in English or Spanish to explore experiences and perceptions of prenatal cfDNA screening. Participants were recruited following their first prenatal visit when cfDNA is typically introduced. Interview transcripts were qualitatively analyzed for iterative themes based on principles of grounded theory. RESULTS: One hundred Black and Hispanic patients (n = 51 non-Hispanic Black, n = 43 Hispanic, n = 3 Hispanic Black, n = 3 Not Reported/Other) completed an interview. Participants described minimal opportunity for pre-screening counseling and limited health literacy about cfDNA or its uses. Some believed that cfDNA could positively impact pregnancy health. Many were unsure if they had received cfDNA even though they were aware of the information provided by it. Most participants expressed an interest in cfDNA as a means for early detection of fetal sex and as an additional indication of general fetal health. CONCLUSIONS: Patient experiences indicate limited informed consent and decision-making for cfDNA, discordant with professional guidelines on pre-screen counseling. Our findings suggest that there should be additional investment in implementing cfDNA in safety net settings to ensure that patients and providers receive the support necessary for effective patient counseling and follow-on care for the ethical implementation of cfDNA.

The "Strong Black Woman" Paradox: Insights from a Cohort of Black Breast and Ovarian Cancer Patients and Family Members.

BACKGROUND: The strong Black woman (SBW) stereotype can be seen as a positive view of Black women and even a standard to uphold. SBW internalization is a coping mechanism for dealing with racism and sexism. However, multiple recent studies have indicated that Black women in the modern era experience the paradox of SBW internalization having negative generational health effects. We interviewed Black women with a personal or relation diagnosis of breast or ovarian cancer to understand their views and experiences, including how the perception of the SBW stereotype influenced their care. METHODS: Qualitative semi-structured interviews were conducted via telephone or video conference and transcribed verbatim. Transcripts were qualitatively analyzed for iterative themes related to cancer care and psychosocial support. RESULTS: Sixty-one Black women completed an interview. Responses in multiple transcripts expressed experiences and sentiments consistent with the SBW stereotype, including the importance of maintaining the appearance of strength during their cancer journey. This resulted in some patients declining assistance during their cancer journeys. Participants shared a hope that there would be more willingness to show vulnerability so that future generations of cancer patients receive adequate support. Key aspects of the SBW stereotype were also cited as potential contributors to ongoing racial disparities in breast and ovarian cancer outcomes. CONCLUSION(S): Participants described a paradox of the SBW stereotype that is ultimately detrimental to health and wellbeing. Healthcare professionals and cancer researchers should be aware of this phenomenon to address cancer care more appropriately in Black women.

Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.

Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults (AYAs) affected by SCA engage with and adapt to their diagnosis. In order to understand how AYAs adapt to a SCA diagnosis, we conducted a secondary analysis of qualitative interviews with AYAs. Eight in-depth semi-structured interviews with individuals with a diagnosis of 47,XXY, 47,XXX, and 48,XXYY were analyzed for iterative themes related to adaptation to a SCA diagnosis in accordance with standard qualitative methodology. Our findings suggest that the process of adaptation is highly variable and complex and is mediated by external factors including diagnosis delivery and community support. Factors associated with adaptation include feeling understood and supported by healthcare providers; researching the condition; receiving hormone replacement therapy; and receiving support from a community of peers. As access to prenatal and pediatric genetic testing continues to expand, non-genetic pediatric providers are increasingly likely to interact with individuals with SCAs as part of their initial diagnostic odyssey or ongoing medical management. Understanding the diversity of lived experiences of AYAs with SCAs is helpful for healthcare providers to facilitate holistic care and provide meaningful support to patients.

Rapid Expansion of the Healing Emotional Lives of Peers Program During COVID-19: A Second Victim Peer Support Program for Healthcare Professionals.

OBJECTIVES: In 2018, the Healing Emotional Lives of Peers (HELP) Program was implemented at Mayo Clinic Rochester to guide healthcare professionals (HCPs) after a second victim experience, such as adverse patient events or medical errors. The HELP program was expanded to all HCPs in response to the anticipated stressors of the COVID-19 pandemic. This article aims to describe the rapid expansion of the peer support program and evaluate the effectiveness of peer support provided to affected colleagues (ACs). METHODS: Quantitative data collected from workshop evaluations, activations, and associated metrics ( TPS Self-Assessment , Encounter Form , and AC Self-Assessment ) were summarized through standard descriptive statistics using SAS version 9.4 software. Open-ended responses were qualitatively analyzed for iterative themes about the HELP program and associated workshops. RESULTS: Between April 2020 and December 2021, 22 virtual workshops to train peer supporters were conducted with 827 attendees. Of these, 464 employees completed the workshop evaluation. A total of 94.2% rated the workshop as excellent or very good. Participants perceived the workshop to be highly effective and felt more prepared to support ACs. Between May 2020 and December 2021, 247 activations were submitted through the HELP Program's intranet Web site and peer support was requested for 649 employees. Of the 268 TPS Self-Assessments , 226 (84.3%) felt that they provided helpful support to an AC. One hundred ACs evaluated support received, with 93% being "extremely" or "very satisfied." Affected colleagues appreciated having a TPS provide judgment-free support. CONCLUSIONS: The HELP Program promotes a culture of safety by helping HCPs process traumatic events. To effectively meet the needs of patients, healthcare organizations need to prioritize the well-being of their employees through interpersonal support.

Nutrition and Emotional Health Education: The Use of Emotional Intelligence and a Plant-Based Diet to Reduce Cardiometabolic Risk.

Background: For individuals living with chronic conditions like diabetes mellitus and obesity, there is a need for sustainable behavioral strategies and physiologic tools. These tools support identifying and addressing barriers to healthy eating, reducing body mass index (BMI), and building increased physical resilience in real time. Objective: To evaluate whether a 12-week learning management system designed to combine nutritional intervention with education and coaching on improving emotional intelligence (EI) could alter cardiometabolic outcomes. Methods: This pre-post prospective study enrolled 37 adult volunteers with BMI greater than 25 to participate in a 12-week learning management system. Primary (BMI, systolic blood pressure, diastolic blood pressure, low-density lipoprotein [LDL], high-density lipoprotein, and fasting glucose levels) and secondary self-reported outcomes were assessed at baseline, 12 weeks, and 6 months after enrollment using Short Form-36, Emotional Quotient Inventory (EQi), and Whole Health Index (WHI). Linear mixed-effects regression models with random effect were used to estimate changes in primary and secondary outcomes. We adjusted for multiple testing using Holm step-down method. Results: BMI and LDL were the only primary endpoints lower at program completion and 6-month follow-up compared to baseline levels (-1.63 and -17.77 mg/dL, respectively; P < .001). Secondary outcomes showing statistically significant improvement from baseline to 6-month follow-up included energy/fatigue (Short Form-36), self-regard (EQi), decision-making (EQi), impulse control (EQi), stress management (EQi), Whole Brain - Form A (WHI), Whole Food - Form C (WHI), and Whole Body - Form D (WHI). Conclusion: This study provides preliminary evidence that lifestyle programs combining nutritional interventions and EI can have a significant impact on BMI and LDL. Our study highlights the potential importance of both nutrition and EI in programs targeting diet and lifestyle modification.

Influence of the COVID-19 pandemic on prenatal and postpartum patient experiences and well-being.

BACKGROUND: It has yet to be fully elucidated how differing populations of obstetric patients adapted to the disruptions in perinatal care and postpartum support from the COVID-19 pandemic. We surveyed an enriched sample of socioeconomically advantaged patients to understand the influence of COVID-19 on their perinatal care experience, well-being, and coping. METHODS: We surveyed pregnant and postpartum patients (n = 6140) at a large academic medical center in the Midwest of the United States using the Coronavirus and Perinatal Experiences instrument in Spring 2021. RESULTS: The survey was sent to 6141 pregnant and postpartum patients; 1180 (17.8%) respondents completed the survey, including 256 who were pregnant and 834 postpartum. Most pregnant patients experienced no changes in their prenatal care with 16.5% indicating somewhat worsened care. In the postpartum cohort, 37.5% stated their care had somewhat worsened. In describing influences on stress and mental health, 58.1% of postpartum respondents stated it was moderately, and 17.4% significantly, worse. The pandemic had a somewhat or moderately negative influence for 72.7% of respondents, with 11.0% stating these effects were extremely negative. Both cohorts characterized a range of coping strategies, most commonly, talking with friends and family (76.3%). CONCLUSION(S): Even among this sample of socioeconomically advantaged patients, respondents indicated that the pandemic disrupted many facets of their medical care and daily life, especially social activities and postpartum support. Our findings suggest that counseling on coping and adaptation strategies for stressors and increased health systems support be part of perinatal care during public health emergencies for all demographic groups.

Age-Specific Barriers and Facilitators to Research Participation Amongst African Americans in Observational Studies of Memory and Aging.

BACKGROUND: Black/African Americans experience a high burden of Alzheimer disease and related dementias yet are critically underrepresented in corresponding research. Understanding barriers and facilitators to research participation among younger and older African Americans is necessary to inform age-specific strategies to promote equity in studies of early- and late-onset neurodegenerative diseases. STUDY DESIGN: Survey respondents (n = 240) rated barriers and facilitators of research participation. Age-specific differences were evaluated using nonparametric Kruskal-Wallis tests across respondents aged 18-44 years (n = 76), 45-64 years (n = 83), and ≥ 65 years (n = 81). Strategies to mitigate barriers and promote facilitators were further explored via community-based focus groups. Pooled frequency of common themes discussed in focus groups were evaluated and compared across different ages including ≥ 45 years, ≥ 65 years, and mixed ages ≥ 45 years. RESULTS: Younger respondents (aged 18-44 and 45-64 years) expressed a greater need for flexibility in when, where, and how research testing takes place versus adults ≥ 65 years. Focus groups emphasized long-lasting consequences of systemic racism and the need to build and foster trust to resolve barriers and promote research engagement amongst African Americans. DISCUSSION: Age-specific strategies are needed to increase engagement, address recruitment disparities, and promote retention of African American participants in memory and aging studies across the lifespan.

Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members.

Black women experience disproportionate rates of advanced breast cancer diagnoses and mortality. Mammography is a proven and effective tool in early breast cancer detection and impacts patient outcomes. We interviewed Black women with a personal or family history of breast and/or ovarian cancer to understand their screening experiences and views. N = 61 individuals completed an interview. Interview transcripts were qualitatively analyzed for themes regarding clinical experiences, guideline adherence, and family sharing specific to Black women and their families. Most participants were college educated with active health insurance. Women in this cohort were knowledgeable about the benefits of mammography and described few barriers to adhering to annual mammogram guidelines. Some with first-degree family history were frustrated at insurance barriers to mammography before the age of 40. Participants were generally comfortable encouraging family and friends to receive mammograms and expressed a desire for a similar screening tool for ovarian cancer. However, they expressed concern that factors such as screening awareness and education, lack of insurance coverage, and other systematic barriers might prevent other Black women from receiving regular screening. Black women in this cohort reported high adherence to mammography guidelines, but expressed concern about cultural and financial barriers that may impact cancer screening access in the population more generally and contribute to disparities. Participants noted the importance of frank and open discussions of breast cancer screening in their families and community as a means of improving awareness.

Views of parents of children with Down syndrome on Alzheimer's disease vaccination.

Individuals with Down syndrome (DS) experience increased risk of Alzheimer's disease (AD). Recent studies suggest that a vaccine against AD may be forthcoming. Parental buy-in is critical to the success of any intervention in this population, as adults with DS often rely on familial support. This study aims to characterize parents' perceptions of a hypothetical vaccine to prevent AD in individuals with DS. A mixed-methods, anonymous survey was distributed via social media. Participants were asked about their experiences with DS and reactions to proposed interventions. Open-ended responses were thematically analyzed using NVivo 12. Of 1,093 surveys initiated, 532 were completed. Of the parents sampled (N = 532), a small majority (54.3%), supported the proposed AD vaccine. All expressed the need for extensive pre-enrollment education and minimal risk. For many, limited research and long-term sequelae were concerns.