CHOICES for sickle cell reproductive health: A protocol of a randomized preconception intervention model for a single gene disorder.

Our long-term goal is to foster genetically informed reproductive health knowledge and behaviors among young adults with sickle cell disease (SCD) or sickle cell trait (SCT) with a web-based, tailored, multimedia intervention called CHOICES. CHOICES is designed to help young adults with SCD or SCT preconception to gain knowledge of genetic inheritance, specify their reproductive health intentions (their parenting plan), and engage in reproductive health behaviors concordant with their parenting plan. In a previous study, we found high acceptability of both the e-Book (usual care control) and CHOICES interventions. We also found sustained (24 months), significant effects on knowledge but not on behavior, most likely because half of the recruited group was not at risk for their children inheriting SCD. Hence, we propose an adequately powered randomized controlled trial with the CHOICES intervention and an e-Book control to compare their effects on genetic inheritance knowledge and at-risk reproductive health behaviors (immediate posttest and at 6, 12, 18, and 24 months). We will conduct subgroup analyses to provide insight into the baseline knowledge and behavior as well as the intervention effects in different demographic or acceptability groups. Given the scalability and low cost of CHOICES, if proved to be effective, it can reach the affected population at low cost.

Development of the Tool to Empower Parental Telling and Talking (TELL Tool): A digital decision aid intervention about children's origins from donated gametes or embryos.

Objective: This study aimed to create and develop a well-designed, theoretically driven, evidence-based, digital, decision Tool to Empower Parental Telling and Talking (TELL Tool) prototype. Methods: This developmental study used an inclusive, systematic, and iterative process to formulate a prototype TELL Tool: the first digital decision aid for parents who have children 1 to 16 years of age and used donated gametes or embryos to establish their families. Recommendations from the International Patient Decision Aids Standards Collaboration and from experts in decision aid development, digital health interventions, design thinking, and instructional design guided the process. Results: The extensive developmental process incorporated researchers, clinicians, parents, children, and other stakeholders, including donor-conceived adults. We determined the scope and target audience of the decision aid and formed a steering group. During design work, we used the decision-making process model as the guiding framework for selecting content. Parents' views and decisional needs were incorporated into the prototype through empirical research and review, appraisal, and synthesis of the literature. Clinicians' perspectives and insights were also incorporated. We used the experiential learning theory to guide the delivery of the content through a digital distribution plan. Following creation of initial content, including storyboards and scripts, an early prototype was redrafted and redesigned based on feedback from the steering group. A final TELL Tool prototype was then developed for alpha testing. Conclusions: Detailing our early developmental processes provides transparency that can benefit the donor-conceived community as well as clinicians and researchers, especially those designing digital decision aids. Future research to evaluate the efficacy of the TELL Tool is planned.

Alpha Test of the Donor Conception Tool to Empower Parental Telling and Talking.

OBJECTIVE: To conduct an alpha test of the prototype of a digital decision aid to help parents disclose donor conception to their children, the Donor Conception Tool to Empower Parental Telling and Talking (TELL Tool). DESIGN: Convergent mixed-methods design. SETTING: Virtual interviews in places convenient to the participants. PARTICIPANTS: A purposeful sample (N = 16) of nine gamete-donor and embryo-recipient parents and eight clinicians, as one parent was also a clinician. METHODS: We conducted cognitive interviews to explore participants' perceptions about the TELL Tool prototype and observe patterns of use. The International Patient Decision Aid Standards (i.e., usability, comprehensibility, and acceptability) guided the development of the qualitative interview guide and directed the qualitative analysis. We also collected data about participants' perceptions and ratings of the helpfulness of each of the prototype's webpages regarding parents' decision making about disclosure. Descriptive statistics were used to analyze the helpfulness ratings before we merged the two data sets to optimize understanding. RESULTS: Participants reported that the TELL Tool was a helpful digital decision aid to help parents tell their children how they were conceived. Most (93.7%) webpage rating scores indicated that the content was very helpful or helpful. The participants identified content and technical areas that needed refinement and provided specific recommendations such as adding concise instructions (usability), tailoring adolescent language (comprehensibility), and softening verbiage (acceptability). CONCLUSION: Alpha testing guided by the International Patient Decision Aid standards was an essential step in refining and improving the TELL Tool prototype before beta testing.

Tailored Parenting Plans of Young Adults With Sickle Cell Disease or Sickle Cell Trait.

Our study purpose was to evaluate the variation and accuracy of tailored parenting plans individually generated as a supplement to reproductive health education on the genetic inheritance of sickle cell disease or sickle cell trait. We present a secondary data analysis of experimental group data from a randomized controlled trial. Participants completed the valid and reliable Internet-based Sickle Cell Reproductive Health Knowledge Parenting Intent Questionnaire. We created a computerized algorithm that used participants' responses to generate tailored parenting plans based on their parenting preferences and partner's sickle cell status. Thirty-one different parenting plans were generated to meet the variety in the participants' preferences. The most frequently generated plan was for participants with sickle cell disease who had a partner with hemoglobin AA, who wanted to be a parent, was not likely to be pregnant, and wanted their child to be sickle cell disease free. More than half of the participants required alteration in their reproductive behavior to achieve their parenting goals. Findings provide insight into the variety and accuracy of computer algorithm-generated parenting plans, which could further guide refinement of the algorithm to produce patient-centered, tailored parenting plans supplemental to Internet-based genetic inheritance education.

Characteristics associated with the perceived likelihood to become parents among young adults with sickle cell disease or sickle cell trait in the USA.

Individuals with sickle cell disease (SCD) and individuals with sickle cell trait (SCT) have different health trajectories, but it is unknown whether sociodemographic and clinical characteristics are associated with their likelihood to be a parent. The purpose of this study was to examine the sociodemographic and clinical characteristics associated with perceived likelihood-to-parent among a cohort of young adults with SCD or SCT in the USA. The participants were 234 young adults (82 males, 152 females) who had either SCD (n = 138) or SCT (n = 96). The average age was 25.9 years (SD = 4.9), and most participants (87%) were single. Study participants completed the likelihood-to-parent item (0-4 scale) included in the valid and reliable Sickle Cell Reproductive Health Knowledge Parenting Intent and Behavior Questionnaire (SCKnowIQ). The mean likelihood-to-parent score was M = 2.3 (SD = 1.1) and 41% indicated that they were 'very' or 'extremely' likely to be a parent. Bivariate analysis showed that likelihood-to-parent was associated with the participant's sickle cell genotype (p = .03), age (p = .003), educational level (p = .04), income (p = .01), employment (p = .04), number of children (p < .001), health insurance (p = .02), and influenced by others (p < .001). In multiple regression analysis, participants reported higher likelihood-to-parent scores if they had at most 2 children (p = .03), higher income (p = .03), had no insurance (p = .01), and reported higher levels of being influenced by others (p = .001). Additional research is needed to confirm these findings in larger representative samples with more young adult males and to understand the likelihood to become parents over time by implementing longitudinal studies in the SCD and SCT populations. Such research is needed to guide appropriate education and genetic counseling for reproductive decision-making among young adults with SCD or SCT.

Parents' experiences telling children conceived by gamete and embryo donation about their genetic origins.

OBJECTIVE: To gain an in-depth understanding of parents' experiences telling children conceived by gamete and embryo donation about their genetic origins. DESIGN: Qualitative, descriptive. SETTING: Families' homes. PATIENTS: Gamete or embryo donation recipient parents living in the United States and who told their children, from birth to 16 years, about their genetic origins. INTERVENTIONS: Individual semistructured (n = 12) or dyadic (n = 2) parent interviews. MAIN OUTCOME MEASURES: Directed qualitative content analysis. RESULTS: Fourteen families that comprised 16 gamete or embryo donation recipient parents and represented 24 donor-conceived children between the ages of 4 months and 16 years participated in the study. Single parents (n = 3) and both parents in most two-parent families (n = 9) led the initial telling conversations. Parents recounted personal short stories using language that was both developmentally and medically appropriate. Multiple strategies, including children's books, were used by parents to aid them in their telling. The oldest donor-conceived children in each family were first informed of their genetic origins at birth (n = 10 families) or at 6 months (n = 1 family; "practice runs") or from 3.5 to 12 years (n = 3 families). The telling conversations took place during routine family activities that naturally brought parents and children in close proximity, usually in the home. CONCLUSIONS: Awareness of the nuances of parents' telling conversations with their children through the age of 16 years can help guide clinical counseling and the development of tools to aid parents in their telling conversations.

Family Management of Severe Obesity in Adolescents.

PURPOSE: Severe obesity, defined as a body mass index (BMI) ≥120th percent of the 95th BMI percentile for age and sex, is the fastest growing subcategory of obesity among youth, yet little is known about how this group understands and incorporates weight management strategies. The aims of this study were to explore how parents and adolescents understand severe obesity and incorporate management into their daily lives and evaluate the applicability of the Family Management Styles Framework (FMSF) to better understand the impact of severe obesity for adolescents. DESIGN AND METHODS: Directed content analysis grounded in a modified version of the FMSF was used to analyze one-time in-home face-to-face interviews with adolescents aged 12-17 years (N = 14) who received pediatric weight management care and a parent (N = 17). RESULTS: Both adolescents and parents described the day-to-day management as challenging and impactful to parent-child and sibling relationships. They described the need for sustained support and coaching in meeting daily physical activity requirements and related stories of weight stigma experienced. Further, parents' and adolescents' views were mostly congruent, except in their view of effectiveness of daily routines and how family attitudes and actions did or did not support the adolescent. CONCLUSIONS: The FMSF was successfully applied to understand family management of adolescents with severe obesity. These adolescents have complex physical and psychological needs impacting effective weight management and family life. PRACTICE IMPLICATIONS: Technology interventions should be considered to improve physiological and psychological outcomes for youth with severe obesity.

Development of an Online Reproductive Health Intervention for Individuals with Sickle Cell Disease or Trait.

The purpose of this article is to describe the method of developing an internet-based reproductive options intervention to increase informed reproductive decision-making among individuals with sickle cell disease (SCD) or sickle cell trait (SCT). An interprofessional team of graphics and media specialist, nurses, physicians, and researchers collaborated to develop the intervention. Individuals from the community served as advisory board members who reviewed and advised on webpage design, content, delivery, and media. The intervention was theory based, delivered online, and experientially oriented for young adults of reproductive age with SCD or SCT. The intervention was culturally specific, supporting individuals with SCD or SCT in making informed reproductive decisions about transmission of SCD or SCT to their offspring. The intervention could be strengthened to include content on implementing behaviors concordant with informed reproductive decisions. Health care providers can use the result of this study to enhance their knowledge about the complexity of parenting options.

Tracing the Use of the Family Management Framework and Measure: A Scoping Review.

This article reports the results of a scoping review of research applications of the Family Management Style Framework (FMSF) and the Family Management Measure (FaMM). We identified 32 studies based on the FMSF and 41 studies in which the FaMM was used, 17 of which were based on the FMSF. Both the framework and measure have been used by investigators in multiple countries, with most applications of the FaMM outside the United States. Although the FMSF and FaMM were originally developed for use with families in which there was a child with a chronic physical condition, both have been applied to a broader range of health conditions and to studies focusing on families with an adult member facing a health challenge. Based on our findings, we make recommendations for how researchers can more fully address all aspects of the FMSF.

The Crisis of Sickle Cell Disease in Africa from Insights into Primary Prevention in Ghana and Nigeria: Notes from the Field.

Sickle cell disease (SCD), an inherited blood disorder, impacts 2% of newborns in Nigeria and Ghana. Despite devastating health consequences, SCD prevention is not a priority in either country. This article describes our U.S. research team's feasibility assessment for adapting CHOICES, a computer-based SCD education program, for use in Ghana and Nigeria. We identified indigenous collaborators by reviewing published research and investigating advocacy organizations online. This led to a fact-finding trip to Africa to discuss SCD prevention with local boards of advisors. Three major recommendations emerged from the group discussions: design a culturally appropriate intervention; enlist community healthcare workers to deliver the CHOICES program; and collaborate with religious and community leaders and elders in public awareness campaigns. Based on extensive advisor input, we will modify the content and delivery of the CHOICES intervention to meet the needs of those impacted by SCD in Ghana and Nigeria.

Health Care Professionals' Awareness of a Child's Impending Death.

Health care professionals' (HCPs) experiences during early pediatric end-of-life care were explored using a theory-building case study approach. Multiple data collection methods including observation, electronic medical record review, and semi-structured interviews were collected with 15 interdisciplinary HCPs across four cases. Within- and across-case analyses resulted in an emerging theory. HCPs' initial awareness of a child's impending death is fluid, ongoing, and informed through both relational and internal dimensions. Initial cognitive awareness is followed by a deeper focus on the child through time-oriented attention to the past, present, and future. HCPs engage in a "delicate dance of figuring out" key issues. Awareness was exemplified through four themes: professional responsibility, staying connected, grounded uncertainty, and holding in. The emerging theoretical model provides a framework for HCPs to assess their ongoing awareness, identify personal assumptions, and inform gaps in understanding when facilitating early end-of-life care discussions with families.

The Experience and Health-Related Quality of Life after Haploidentical Stem Cell Transplantation for Adults with Sickle Cell Disease.

Haploidentical hematopoietic stem cell transplantation (HSCT) from partially matched first-degree relatives (e.g., parent, sibling, child) is the newest therapy available to reverse symptoms of adults with sickle cell disease. Because of this innovation, little is known about the recipients' transplant experiences and how this type of transplant affects their quality of life. We describe the experiences and health-related quality of life (HRQOL) of five (3 female, 2 male) of nine eligible adults with sickle cell disease who received HSCT. Participants completed a brief demographics form, an HRQOL survey, and a 90-minute audio-recorded interview. We produced a series of matrices and summaries for our content analysis in addition to descriptive statistics. We report on recipients' perspectives about the process, outcomes, personal life goals, and how their experience relates to their HRQOL scores. Participants' impressions of their experience varied, but their HRQOL scores paralleled their complications. Those with successful transplants and minimal complications scored highest. Those with successful transplants but significant complications scored in the middle and the individual with an unsuccessful transplant scored the lowest. The four with successful transplants remarked that their health had improved and expressed optimism. We identified three themes: (a) the relief of being pain free, (b) new availability of opportunities, and (c) no regrets about undergoing the transplant. These results delve into the complex factors affecting health and the success of adults with SCD who have a haploidentical HSCT.

The experience of adults with sickle cell disease and their HLA-matched adult sibling donors after allogeneic hematopoietic stem cell transplantation.

AIM: To provide a rich description and in-depth understanding of the recipient-donor allogeneic hematopoietic stem cell transplantation experience. BACKGROUND: A stem cell transplant has a high likelihood of improving symptoms of sickle cell disease in adults. While studies have reported the transplant experiences of recipients and donors with haematological malignancies, no published reports have examined the experience of both adult recipients with sickle cell disease and their donors. DESIGN: Exploratory qualitative descriptive analysis. METHODS: We conducted individual interviews with 13 recipients and donors (eight males, five females) representing five recipient-donor dyads and one recipient-donor triad from one Midwest transplant centre between August 2017-February 2018. Interviews were digitally audio-recorded, transcribed verbatim and analysed using conventional content analysis. FINDINGS: Five themes were identified: the downward spiral and a second chance; getting the monster off my back; difficult and manageable; it was worth it; and relating to the healthcare team. CONCLUSIONS: The results provide a description and insights into the complex nature of the stem cell transplant experience in sickle cell disease from the perspectives of both recipients and donors. IMPACT: Health provider awareness of recipient-donor experiences can contribute to family-centred care that supports the health and quality of life for both recipients and donors. This understanding promotes high quality clinical care and improved communications by taking into account the knowledge, values and informed preferences of recipients and donors and contributes to improved decision-making and clinical care. Future research can assess family experiences that support informed choice for potential transplant candidates.

Health-Related Quality of Life and Personal Life Goals of Adults With Sickle Cell Disease After Hematopoietic Stem Cell Transplantation.

Allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-matched sibling donor offers a unique therapy to reverse SCD. This mixed-methods study explores recipients' perception of HSCT success, personal life goals, and associated health-related quality of life (HRQOL) more than 1 year after HSCT. Recipients completed the Short Form-36, version 1 (SF-36v1) HRQOL survey followed by a 60- to 90-min face-to-face or telephone audio-recorded interview. Eleven of 15 eligible recipients participated in the study. Although the eight HRQOL subscale scores varied, the three recipients with a successful HSCT and the highest scores were pursuing their personal life goals. The four with avascular necrosis (AVN) had lower scores related to AVN limitations, yet they were pursuing their personal goals. The two reporting a failed HSCT had reverted back to having SCD, and their subscale scores were among the lowest. Our results show that HSCT success, ability to pursue goals, and HRQOL align in predictable ways.

Incorporating nonlinearity into mediation analyses.

BACKGROUND: Mediation is an important issue considered in the behavioral, medical, and social sciences. It addresses situations where the effect of a predictor variable X on an outcome variable Y is explained to some extent by an intervening, mediator variable M. Methods for addressing mediation have been available for some time. While these methods continue to undergo refinement, the relationships underlying mediation are commonly treated as linear in the outcome Y, the predictor X, and the mediator M. These relationships, however, can be nonlinear. Methods are needed for assessing when mediation relationships can be treated as linear and for estimating them when they are nonlinear. METHODS: Existing adaptive regression methods based on fractional polynomials are extended here to address nonlinearity in mediation relationships, but assuming those relationships are monotonic as would be consistent with theories about directionality of such relationships. RESULTS: Example monotonic mediation analyses are provided assessing linear and monotonic mediation of the effect of family functioning (X) on a child's adaptation (Y) to a chronic condition by the difficulty (M) for the family in managing the child's condition. Example moderated monotonic mediation and simulation analyses are also presented. CONCLUSIONS: Adaptive methods provide an effective way to incorporate possibly nonlinear monotonicity into mediation relationships.

Toward understanding family-related characteristics of young adults with sickle-cell disease or sickle-cell trait in the USA.

AIMS AND OBJECTIVES: To describe the family-related characteristics of young adults with sickle-cell disease or sickle-cell trait prior to taking part in a randomised controlled trial on sickle-cell reproductive health education. BACKGROUND: There is a critical need for educational programmes that target the reproductive needs of young adults with sickle-cell disease or trait. However, little is known about the family-related characteristics (i.e., demographic attributes and reproductive health behaviours) in which these young adults live. DESIGN: A descriptive cross-sectional analysis. METHOD: At study enrolment, 234 young adults (mean age = 25·9 years, 65% female) completed the SCKnowIQ questionnaire. Descriptive statistics depict the demographic attributes and reproductive health behaviours of young adults with sickle-cell disease (n = 138) or trait (n = 96). For group comparisons, independent t tests or Fisher's tests were used, as appropriate. RESULTS: Young adults with sickle-cell trait had significantly higher education, income and health insurance than those with sickle-cell disease. Both groups believed that sickle-cell disease was a severe condition. A majority of young adults with sickle-cell disease (65%) had no children compared to 42% of those with sickle-cell trait. Most young adults (85% sickle-cell disease, 82% sickle-cell trait) were not planning a pregnancy in the next six months, and many used condoms, withdrawal or oral contraceptives. CONCLUSIONS: Socioeconomic disparities exist between young adults with sickle-cell disease and sickle-cell trait. Future research that advances education about how and when to communicate appropriate genetic risk information to partners and children especially for young adults with sickle-cell trait would be beneficial. RELEVANCE TO CLINICAL PRACTICE: Awareness of the similarities and differences in the family-related characteristics among young adults with sickle-cell disease or trait can allow for more tailored reproductive education.

Reproductive Health CHOICES for Young Adults with Sickle Cell Disease or Trait: Randomized Controlled Trial Outcomes over Two Years.

Interventions to assist reproductive health decision-making in populations affected by sickle cell disease (SCD) or trait (SCT) lack proven efficacy over time. Our aim was to compare effects of CHOICES, a Web-based multimedia education program on implementing informed reproductive plans, and usual care education (e-Book) on reproductive knowledge, intention, and behavior over 24 months. We randomized 234 participants with SCD (n = 138) or SCT (n = 96) (age 18-35 years, 35 % male, 94 % African American) to CHOICES and e-Book groups. Participants completed a sickle cell-specific reproductive measure before and four times after the intervention (6, 12, 18 and 24 months). Compared to the e-Book group the CHOICES group had significantly more improvement in knowledge over time (p = .004) but not intention (p = .18) or behavior (p = .69). At baseline, 114 (48.7 %) participants reported having partners who would not put the couple at risk for their children inheriting SCD. Of the 116 (49.6 %) at-risk participants, a higher poroportion of those who were in the CHOICES group chose partners that reduced their risk by the last visit than the e-Book group (p = .04). Study findings provide important insights for designing a national trial of the CHOICES intervention focusing on subjects whose partner status puts them at risk for having a child with SCD.

Perception of young adults with sickle cell disease or sickle cell trait about participation in the CHOICES randomized controlled trial.

AIMS: To gain an in-depth understanding of the perceptions of young adults with sickle cell disease and sickle cell trait about parenthood and participating in the CHOICES randomized controlled trial that used computer-based, educational programmes. BACKGROUND: In the USA, there is insufficient education to assure that all young adults with sickle cell disease or sickle cell trait understand genetic inheritance risks and reproductive options to make informed reproductive decisions. To address this educational need, we developed a computer-based, multimedia program (CHOICES) and reformatted usual care into a computer-based (e-Book) program. We then conducted a two-year randomized controlled trial that included a qualitative component that would deepen understanding of young adults' perceptions of parenthood and use of computer-based, educational programmes. DESIGN: A qualitative descriptive approach completed after a randomized controlled trial. METHODS: Sixty-eight men and women of childbearing age participated in semi-structured interviews at the completion of the randomized controlled trial from 2012-2013. Thematic content analysis guided the qualitative description. RESULTS/FINDINGS: Three main themes were identified: (1) increasing knowledge and new ways of thinking and behaving; (2) rethinking parenting plans; and (3) appraising the program design and delivery. Most participants reported increased knowledge and rethinking of their parenting plans and were supportive of computer-based learning. Some participants expressed difficulty in determining individual transmission risks. CONCLUSION: Participants perceived the computer programs as beneficial to their learning. Future development of an Internet-based educational programme is warranted, with emphasis on providing tailored education or memory boosters about individual transmission risks.

A Case Study Approach to Nursing Home Placement: Smooth and Difficult Cases and Implications for Nursing.

Nursing home placement is one of the most challenging aspects of the caregiving journey. A case study approach was used to understand the experiences of caregivers during the first few months following nursing home placement. Two caregivers were selected from a larger qualitative descriptive study because their experiences exemplified smooth and difficult transitions for both themselves and their older family member. The caregivers were interviewed shortly after placement and 3 months post-placement. Four major contextual issues were identified that indicated the similarities and differences between the two cases, including (a) the caregiver's relationship with the older adult during the home caregiving time and post nursing home placement, (b) the circumstances surrounding placement, (c) support systems, and (d) continued involvement in care post-placement. Nursing home staff who understand these issues and address concerns through family-centered care can ease the transition and promote successful collaborations between staff and families.

Family Caregivers Define and Manage the Nursing Home Placement Process.

The nursing home placement process is complex and difficult for family caregivers. This qualitative descriptive study examines the experiences of caregivers involved in the management of care and placement of an older family member using the Family Management Style Framework. Ten caregivers were recruited from four nursing homes in the Midwest. The caregivers were interviewed shortly after placement and again 3 months post-placement. Results provide a unique understanding of care management and the nursing home placement process from the perspective of the primary family caregiver. Overall, there were similarities across the same types of caregiving dyads, for example, spousal and adult-children caregivers. Caregivers expressed the need to maintain the identity of their older family member, a familial responsibility for caregiving, and change in their family relationship over time. Appreciating caregivers' challenges and needs gives health care professionals a better understanding for how to provide assistance for a smoother nursing home transition.