Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.

A multidisciplinary committee developed evidence-based guidelines for the management of cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen-positive, inconclusive diagnosis (CRMS/CFSPID). A total of 24 patient, intervention, comparison, and outcome questions were generated based on surveys sent to people with CRMS/CFSPID and clinicians caring for these individuals, previous recommendations, and expert committee input. Four a priori working groups (genetic testing, monitoring, treatment, and psychosocial/communication issues) were used to provide structure to the committee. A systematic review of the evidence was conducted, and found numerous case series and cohort studies, but no randomized clinical trials. A total of 30 recommendations were graded using the US Preventive Services Task Force methodology. Recommendations that received ≥80% consensus among the entire committee were approved. The resulting recommendations were of moderate to low certainty for the majority of the statements because of the low quality of the evidence. Highlights of the recommendations include thorough evaluation with genetic sequencing, deletion/duplication analysis if <2 disease-causing variants were noted in newborn screening; repeat sweat testing until at least age 8 but limiting further laboratory testing, including microbiology, radiology, and pulmonary function testing; minimal use of medications, which when suggested, should lead to shared decision-making with families; and providing communication with emphasis on social determinants of health and shared decision-making to minimize barriers which may affect processing and understanding of this complex designation. Future research will be needed regarding medication use, antibiotic therapy, and the use of chest imaging for monitoring the development of lung disease.

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.

Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives. Following PRISMA guidelines, this systematic review synthesizes findings from 92 evidence-based, peer-reviewed research reports published from 2000 through 2020 regarding psychosocial issues associated with NBS. Results describe parents' knowledge of and attitudes towards NBS, reactions to and understanding of positive NBS results, experiences of communication with health providers, decisions about carrier testing, and future pregnancies. Findings also explain the impact of positive NBS results on parent-child relationships, child development, informing children about carrier status, family burden, quality of life, and disparities. In conclusion, psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations. Future investigations should be more inclusive of culturally and socioeconomically diverse families and conducted in low-resource countries. Providing these countries with adequate resources to develop NBS programs is an essential step towards achieving international health equity.

Parenting Children with Cystic Fibrosis: Developmental Acquisition of Expertise.

OBJECTIVE: This study was designed to increase our understanding of parents' experiences managing the needs of their children with cystic fibrosis (CF) and to identify potential gaps in services. METHOD: We used grounded dimensional analysis of anonymous survey data obtained from a quality improvement initiative conducted by the Cystic Fibrosis Foundation (CFF). The Patient and Family Experience of Care (PFEC) survey was administered continuously at 125 CF care centers throughout the United States in 2017. The subsample of data for this study was completed by 80 parents/caregivers of children with CF (younger than 18 years). RESULTS: Two unifying themes emerged from parents' survey responses: (1) parents' expertise expands continually as they learn and adapt to changes in their children's maturity or health and (2) parental expertise is sometimes visible or invisible to clinicians. Parents' expertise evolved with their children's development. Visible to care teams was at-home care, e.g., respiratory treatments and medications. Less visible were intangible management activities, e.g., social processes, emotions, and concerns that were omnipresent for parents but seldom disclosed to or seen/recognized by clinicians. Themes, such as the quality of encounters with care teams, progressive nature of CF, and hope derived from advances in research, were associated with specific contextual factors. CONCLUSION: The findings expand our understanding of lived parental experiences of CF across childhood and offer direction for future quality improvement and research. Online parent surveys offer a valuable tool to identify unmet needs across subgroups of families affected by chronic childhood health conditions.

Being fast or cautious? Sociocultural conditions influencing the sexual pathways of Black females in the United States.

BACKGROUND: Black females in the United States face unique sociocultural conditions that impact their sexual development and increase their risk for sexually transmitted infections (STI), including but not limited to chlamydia, gonorrhea, and HIV. Research has not adequately explained how sociocultural conditions contribute to this increased risk. The purpose of our investigation was to explore the sociocultural conditions that influence Black cisgender females risk for STI. METHODS: This grounded theory study involved in-depth audio-recorded interviews with 20, primarily heterosexual, Black females ages 19-62. RESULTS: Findings informed a conceptual model that builds on previous theory about the sexual development of Black females and explains how sociocultural conditions impact two, participant identified, sexual pathways: Fast and Cautious. Movement on these sexual pathways was not always a linear trajectory; some participants shifted between pathways as their sociocultural contexts changed (i.e., sexual assault, STI, and level of protection). The Fast sexual pathway often led to greater STI risk. CONCLUSIONS: This model may inform future research designed to prevent STI/HIV and promote the sexual health of Black females across the life course.

Father's Bonding With an Infant Born Prematurely: A Qualitative Meta-synthesis.

There is no current theory that explains the process of a fathers' bonding with their infants born prematurely. Through meta-synthesis of 19 qualitative studies, we developed a conceptual framework to illustrate how fathers perceive the relationship with their premature infant formed over the first 18 months of life. It details the contextual factors that contribute to that process. Findings reveal a complex process comprised of five stages, derived from five core themes and related subthemes. Fathers progress through five sequential stages to establish their role as fathers and form emotional connections with their child. Stages include: (a) feeling alien and lacking emotional connection to the infant, (b) caregiving engagement and claiming the role as a father, (c) claiming the infant as their own, (d) adjusting to having the infant home, and (5) normalizing family life. This conceptual framework can inform future research and clinical interventions designed to foster father-infant bonding.

Black Female Sexuality: Intersectional Identities and Historical Contexts.

Black females experience significant sexual health disparities. Intersectionality theory offers nurses a framework to address health disparities. Intersectionality theory examines how categorical identities of difference confer power or oppression, affect social interactions, and influence individuals' engagement with institutional structures. This secondary analysis of qualitative data details the damaging effects that power, oppression, and disadvantaged identities have on the sexual health of Black women. Twenty participants explained how the intersection of race, gender, age, education, and sexuality influences sexual health risk. Our expanded model of intersectionality theory emphasizes historical context with implications for research, practice, and education to promote health equity.

Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status.

OBJECTIVE: To conduct interviews with a multiyear sample of parents of infants found to have heterozygous status for sickle cell hemoglobinopathy or cystic fibrosis during newborn blood screening (NBS). STUDY DESIGN: Interviewers with clinical backgrounds telephoned parents, and followed a structured script that blended follow-up and research purposes. Recruiting followed several steps to minimize recruiting bias as much as possible for a NBS study. RESULTS: Follow-up calls were conducted with parents of 426 infant carriers of sickle cell hemoglobinopathy, and 288 parents of cystic fibrosis carriers (34.8% and 49.6% of those eligible). Among these, 27.5% and 7.8% had no recollection of being informed of NBS results. Of those who recalled a provider explanation, 8.6% and 13.0% appraised the explanation negatively. Overall, 7.4% and 13.2% were dissatisfied with the experience of learning about the NSB result. Mean anxiety levels were low but higher in the sickle cell hemoglobinopathy group (P < .001). Misconceptions that the infant might get the disease were present in 27.5% and 7.8% of parents (despite zero actual risk for disease). Several of these data were significantly predicted by NBS result, health literacy, parental age, and race/ethnicity factors. CONCLUSIONS: Patient-centered public health follow-up can be effective after NBS identifies carrier status. Psychosocial complications were uncommon, but harms were substantial enough to justify mitigation.

Protecting young Black female sexuality.

In the USA, Black girls and women face significant health disparities and disproportionately experience violence, racism, discrimination, stereotype messaging and elevated STI/HIV rates. Research shows the importance of familial systems and effective communication in decreasing risky behaviours among Black girls. This grounded theory study explored the sociocultural conditions that influence the process of becoming a sexual Black woman. Analytic results of interviews with 20 Black women identified protection as a major category associated with Black female sexual development and related risk behaviour. This paper describes the role of Black women as protectors of young Black female sexuality, the sociocultural protective strategies they used across the life course and the consequences of absent protection. Findings can inform future evidence-based, culturally sensitive interventions to promote the sexual health and development of Black girls and women in the USA.

Impact of Intermediate Cystic Fibrosis Classification on Parents' Perceptions of Child Vulnerability and Protectiveness.

This cross-sectional, mixed-method study examined factors associated with parent perceptions of child vulnerability and protectiveness in three groups: cystic fibrosis (CF-group, n = 40), intermediate CF classification (I-group, n = 20), and healthy (H-group, n = 50). A composite indicator structural equation (CISE) using Bayesian estimation tested two mediational models: psychological and biological. Significant results ( p < .05) from the psychological model showed I-group and CF-group parents perceived their children to be more vulnerable than H-group parents but reported lower levels of protectiveness than H-group parents. Perceptions of vulnerability mediated protectiveness for CF- and I-groups. The biological model showed I-group children had significantly less severe genotype and phenotype, and lower sweat chloride levels than the CF-group; I-group parents had lower expectations about children developing CF symptoms. Both models showed negative associations between children's ages and protectiveness. Psychological factors explained perceptions of child vulnerability and protectiveness; biological factors explained protectiveness. Parent perceptions of vulnerability and protectiveness are separate, independent constructs.

The Process of Becoming a Sexual Black Woman: A Grounded Theory Study.

Black females in the United States disproportionately suffer from STDs, including HIV. Understanding the sociocultural conditions that affect their risk is essential to developing effective and culturally relevant prevention programs. METHODS: In 2016-2017 in Madison, Wisconsin, 20 black females aged 19-62 completed interviews that explored the sociocultural conditions associated with sexual development and STD/HIV risk. Interviews were guided by grounded theory; open, axial and selective coding and constant comparative analysis were used to identify developmental phases and relevant sociocultural conditions. RESULTS: Three phases of becoming a sexual black woman were identified: Girl, when participants reported beginning to understand their sexuality; Grown, marking a transition to adulthood, when participants began to feel more self-sufficient yet still grappled with their emerging sexuality; and Woman, when participants developed a strong sense of self and took ownership of their bodies. Two sociocultural conditions affected progression through these phases: stereotype messaging and protection (both self-protection and protecting others). Negative life events (e.g., sexual trauma) and early sexualization reportedly affected sexual development, and STD experience influenced self-perceptions of sexuality and sexual behavior, often leading to self-protective behaviors. Older participants reported strategies to protect young black females from negative sexual experiences. CONCLUSION: Interventions at multiple levels of the social ecology throughout the life course may help reduce STD/HIV risk among black women in the United States. Future research should include examination of the experiences of black females younger than 18 and evaluation of the protective strategies employed by older black females.

How American Nurses Association Code of Ethics informs genetic/genomic nursing.

Members of the Ethics and Public Policy Committee of the International Society of Nurses in Genetics prepared this article to assist nurses in interpreting the American Nurses Association (2015) Code of Ethics for Nurses with Interpretive Statements (Code) within the context of genetics/genomics. The Code explicates the nursing profession's norms and responsibilities in managing ethical issues. The nearly ubiquitous application of genetic/genomic technologies in healthcare poses unique ethical challenges for nursing. Therefore, authors conducted literature searches that drew from various professional resources to elucidate implications of the code in genetic/genomic nursing practice, education, research, and public policy. We contend that the revised Code coupled with the application of genomic technologies to healthcare creates moral obligations for nurses to continually refresh their knowledge and capacities to translate genetic/genomic research into evidence-based practice, assure the ethical conduct of scientific inquiry, and continually develop or revise national/international guidelines that protect the rights of individuals and populations within the context of genetics/genomics. Thus, nurses have an ethical responsibility to remain knowledgeable about advances in genetics/genomics and incorporate emergent evidence into their work.

A proposed model of person-, family-, and culture-centered nursing care.

BACKGROUND: For decades person-, patient-, family-centered, and culturally competent care models have been evolving and conceptualized in the literature as separate. To our knowledge, there has not been a systematic approach to comparing all four of these conceptual models of care. PURPOSE: To explicate and compare four conceptual care models: person-, patient-, family-centered, and culturally competent care. METHODS: A comparative concept analysis informed by Rogers' evolutionary concept analysis was used to compare 32 nursing research on person-, patient-, family-centered care, and culturally-competent care published between 2009 and 2013. RESULTS: Collective results of analyses of 32 nursing research articles found 12 attributes: collaborative relationship, effective communication, respectful care, holistic perspective, individualized care, inter-professional coordination, self-awareness, empowerment, family as unit of care, interpersonal relationships, cultural knowledge, and cultural skills. Antecedents included: lack of empirical evidence, poor patient outcomes, implementation problems, knowledge deficits, patient/parent emotional distress, poor patient-provider relationships, and health disparities. Consequences included: improved health-related outcomes, increased satisfaction, enhanced patient/family-provider relationships, reduced hospitalization, improved quality of life, improved quality of parent-child relationships, increased trust, enrollment in research, insights about biases, and appreciation for cultural differences. Social justice, advocated by scholars and national organizations, was absent from all studies. CONCLUSIONS: Findings informed the proposed blended conceptual care framework that embraces the attributes of each care model and includes social justice.

Walking the "Emotional Tightrope" From Pregnancy to Parenthood: Understanding Parental Motivation to Manage Health Care and Distress After a Fetal Diagnosis of Complex Congenital Heart Disease.

Advances in medical technology account for increasingly more couples receiving fetal diagnoses of complex congenital heart disease. Theory on internal working models of caregiving during parenting transitions informed this prospective, exploratory study. Data included conjoint interviews and measures of anxiety, trauma, and depression collected from six couples after diagnosis and after birth. Severity of illness was described using infant health records. Directed content analysis furthered understanding of the caregiving motivation to manage health care that included three categories of parental efforts: (a) to determine expectations of health care providers, (b) to reconcile illness- and non-illness-related care, and (c) to express agency as a parent. Synthesis of qualitative findings transformed into categorical ratings with parents' levels of distress resulted in two profiles characterizing types of internal working models. Findings extend theory on internal working models of caregiving and offer direction for future research regarding parental management of health care for their chronically ill offspring. Implications for practice with families are offered.

Preparing Heart and Mind for Becoming a Parent Following a Diagnosis of Fetal Anomaly.

Using a cross-sectional, grounded dimensional analysis study design, we collected demographic and health information and conducted telephone interviews with 37 expectant parents of 26 fetuses within 25 families. We describe a theoretical model with a core process of preparing heart and mind for becoming a parent following a diagnosis of fetal anomaly. The process of preparing was influenced by fetal and future child health, experiences of previous loss, and social interactions within both new and familiar settings. Expectant parents reported varying turning points and strategies associated with three distinct trajectories of relating to the fetus or "baby" yet to be born. These relational trajectories include claiming the child as one's own, delaying the connection to the fetus, and doing the routine of pregnancy. With the findings presented in this article, we extend the understanding of how parenting develops during pregnancy in the context of a fetal anomaly.

Factors affecting parent-child relationships one year after positive newborn screening for cystic fibrosis or congenital hypothyroidism.

OBJECTIVE: Examine factors that mediate parent-infant relationships 12 months after positive newborn screening (NBS). METHODS: We examined effects of infant diagnosis, parents' perceptions of child vulnerability and child attachment, parental depression and anxiety on parent-infant feeding interactions for 131 mothers and 118 fathers of 131 infants whose NBS and diagnostics confirmed cystic fibrosis (CF, n = 23), congenital hypothyroidism (CH, n = 35), CF carrier status (CF-C, n = 38), or healthy normal NBS (H, n = 35). RESULTS: Separate composite indicator structural equation models for mothers and fathers showed that neonatal diagnosis was not associated with increased anxiety or depression. In comparison with the healthy group, CF group parents reported higher perceptions of child vulnerability (p < .001, p = .002), and CF-C group fathers viewed their children as more attached (p = .021). High maternal perception of child vulnerability was associated with low perceptions of child attachment (p = .001), which was associated with task-oriented feeding behavior (p = .016, p = .029). Parental task-oriented feeding behavior was associated with less positive (p < .001, p < .001) and more negative interactions (p < .001, p = .001) with their infants. High paternal perception of child vulnerability was associated with negative parent interactions (p < .001). High parental affective involvement and verbalization was associated with high infant affective expressiveness, communicative skills, and social responsiveness (mothers' p < .001, fathers' p < .001). High parental negative effect and/or inconsistent and intrusive behavior were associated with infant dysregulation and irritability (mothers, p < .001, fathers, p < .001). CONCLUSION: The severity of conditions identified through NBS can affect parents' perceptions of their child's vulnerability and attachment. Infant feeding problems in the context of chronic health conditions, like CF, could represent signs of more deeply rooted concerns regarding the parent-child relationship that merit additional clinical evaluation.

Genomic breakthroughs in the diagnosis and treatment of cystic fibrosis.

OVERVIEW: Cystic fibrosis (CF) is an autosomal recessive disorder that was long considered a terminal illness. Recent genetic discoveries and genomic innovations, however, have transformed the diagnosis, classification, and treatment of this multisystem condition. For affected patients, these breakthroughs offer hope for significantly greater longevity and quality of life and, perhaps, for a future cure. This article reviews empirical research on CF, filling a critical gap in the nursing literature regarding recent findings in the study of CF genetics and their implications for patient teaching, diagnosis, and treatment.

Long-term follow-up of cystic fibrosis newborn screening: psychosocial functioning of adolescents and young adults.

BACKGROUND: Long-term psychosocial outcomes of cystic fibrosis (CF) patients diagnosed through newborn screening remain unknown. METHODS: This cross-sectional study compared three groups of youths (16 to 22 years): CF patients diagnosed through NBS (CF-NBS, n = 13), CF patients diagnosed through standard practice (CF-SP, n = 26) and healthy peers (H, n = 42), plus 72 of their parents. We hypothesized that adolescent psychological functioning would be mediated by parent depression and quality of parent-child communication and cohesiveness. RESULTS: A path analysis showed significantly more depression among CF-NBS group parents (p = .006-.008). Parent-child cohesiveness was related to communication (p < .001). Cohesiveness and communication were associated with youth Internalizing Problems (p = .037, p = .009), Emotional Symptoms (p = 0.018, p = 0.022), and Personal Adjustment (communication only, p = 0.009). Parent depression was related to youth Personal Adjustment (p = 0.022). CONCLUSIONS: CF patients report psychosocial function similar to healthy peers. Parents of children diagnosed with CF through NBS may be at risk for depressive symptoms when their children reach adolescence.

Health-related quality of life in children and adolescents with cystic fibrosis: convergent validity with parent-reports and objective measures of pulmonary health.

OBJECTIVE: This study examined the convergent validity of health-related quality of life (HRQOL) reported by patients with cystic fibrosis compared with their parents' reports and objective pulmonary measures across 3 time points. METHODS: Ninety-two children (8-13 years) and adolescents (14-18 years) with cystic fibrosis and their parents completed Cystic Fibrosis Questionnaires to examine concordance with Wisconsin chest x-ray (WCXR) scores and pulmonary function tests, for example, forced expiratory volume at 1 second (FEV1), and parent-child/adolescent concordance across multiple HRQOL domains. Concordance was analyzed relative to patient age and gender. RESULTS: Parent-reports were closely aligned with WCXR scores, whereas patient reports were more closely aligned with FEV1. Adolescents and parents of both age groups had more HRQOL domains concordant with pulmonary health measures than did child self-reports. Parent-child concordance was inversely related to child age, particularly with male adolescents. Children generally reported better HRQOL than parents. Male adolescents and their parents were more likely to have significantly discordant HRQOL scores than female adolescents and their parents. Male and female adolescents reported higher HRQOL than their parents reported for all but vitality and health perception domains. Younger male children showed concordance with their parents on 5 of 7 domains. CONCLUSIONS: Parent-child/adolescent discordance on HRQOL was consistent with normative child development expectations. Findings underscore the value of enlisting perspectives from parents as well as children regarding HRQOL.