Parent-Reported Caregiving Roles of Siblings of Children with Inborn Errors of Metabolism.

OBJECTIVES: Research examining sibling caregiving contributions to medically complex pediatric patients, including those with inborn errors of metabolism (IEMs), is limited. We assess caregiving roles and attributes of siblings and hypothesize that there will be differences in parent-reported contributions among siblings of children with IEMs and siblings of typically developing (TD) children. STUDY DESIGN: A convergent parallel mixed-methods study design guided analysis of data from parental surveys and semistructured interviews. Interviews were conducted with parents (n = 49) of children with IEMs and parents (n = 28) of exclusively TD children. We used inductive thematic analysis to identify themes related to sibling caregiving. The caregiving and support roles for siblings (n = 55) of children with IEMs and siblings (n = 42) of TD children were coded to assess each sibling's caregiving contributions and personal attributes. RESULTS: Logistic regressions, using generalized estimating equations, were fitted. Results showed that siblings of children with IEMs were significantly more likely to provide monitoring (odds ratio [OR]: 3.62, confidence interval [CI]: 1.30-10.07) and emotional/social support (OR: 4.02, CI: 1.67-9.67) than siblings of TD children. Themes arising from interviews with parents of children with IEMs focused on sibling attributes, parental expectations regarding sibling caregiving, and challenges to the sibling-sibling and parent-sibling relationships. Themes revealed nuances in the sibling caregiving experience. CONCLUSION: Siblings of children with IEMs make meaningful caregiving contributions and may provide care differently than siblings of TD children. Understanding childhood caregiving roles may inform how health care providers and parents encourage sibling caregiving contributions into adulthood.

The impact of caregiving for children with chronic conditions on the HPA axis: A scoping review.

Caregiving has been robustly linked to caregiver health through the dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis in the context of caregiving for an adult with a chronic illness. However, little research examines the physiological impact of caregiving for a child with a chronic illness despite high burden and unique stressors. In this review, we explore the links of caregiving for a child with a congenital, chromosomal, or genetic disorder to the regulation or dysregulation of the HPA axis. A search was conducted in PubMed, Embase, and the Web of Science and 15 studies met inclusion criteria. Overall, there were inconsistent links of caregiving to HPA axis functioning, perhaps due to the heterogeneity across disease contexts, study designs, and biomarker measurement. Future research should standardize measurement and study designs, increase participant diversity, and examine moderators of the links of caregiving to the HPA axis.

Links of we-talk to caregiver social network systems and health.

Caring for a child, particularly one with a rare disease, presents a challenging set of stressors that can impact entire family networks. Given this shared impact, caregivers can engage in communal coping to address the caregiving process, defined as the perception of caregiving as shared and collaborative behaviors to address it. In this study, we examined one common measure of communal coping-first person plural pronouns or "we-talk"-in caregivers of either (a) children with rare or undiagnosed diseases or (b) typically developing children. We sought to examine how we-talk is linked to (a) caregiver health and well-being and (b) social network involvement in caregiving. Caregivers (n = 311) participated in (a) survey questionnaires (b) a network enumeration interview and (c) a semistructured interview of caregiving. Results indicated we-talk was unrelated to stress or self-rated health, but was linked to more benefit-finding; greater individual-focused language (I-talk) was also linked to worse self-rated health. Additionally, we-talk was unrelated to malfeasant behavior (e.g., overly critical), but was linked to less nonfeasant behavior (e.g., underinvolvement), more uplift behavior (e.g., helping with caregiving), and more health-related communication with network members. Further, these findings did not differ across caregiving context. This work highlights the role of communal coping for caregivers managing general parenting stress as well as the stress associated with caring for a child with complex medical needs. Future research should continue to examine how interpersonal coping processes operate within social networks to impact health and well-being for all involved. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.

With the expansion of newborn screening conditions globally and the increased use of genomic technologies for early detection, there is a need for ethically nuanced policies to guide the future integration of ever-more comprehensive genomics into population-based newborn screening programs. In the current paper, we consider the lived experiences of 169 family caregivers caring for 77 children with NBS-related conditions to identify lessons learned that can inform policy and practice related to population-based newborn screening using genomic technologies. Based on caregiver narratives obtained through in-depth interviews, we identify themes characterizing these families' diagnostic odyssey continuum, which fall within two domains: (1) medical management implications of a child diagnosed with an NBS-related condition and (2) psychological implications of a child diagnosed with an NBS-related condition. For Domain 1, family caregivers' experiences point to the need for educational resources for both health care professionals that serve children with NBS-related conditions and their families; empowerment programs for family caregivers; training for providers in patient-centered communication; and access to multi-disciplinary specialists. For Domain 2, caregivers' experiences suggest a need for access to continuous, long-term counseling resources; patient navigator resources; and peer support programs. These lessons learned can inform policy recommendations for the benefit of the child, the family, the healthcare system, and society.

Social and behavioral science at the forefront of genomics: Discovery, translation, and health equity.

This special issue highlights the unique role that social and behavioral science has to play at the forefront of genomics. Through the introduction of papers comprising this special issue, we outline priority research areas at the nexus of genomics and the social and behavioral sciences. These include: Discovery science; clinical and community translation, and equity, including engagement and inclusion of diverse populations in genomic science. We advocate for genomic discovery that considers social context, neural, cognitive, and behavioral endophenotypes, and that is grounded in social and behavioral science research and theory. Further, the social and behavioral sciences should play a leadership role in identifying best practices for effective clinical and community translation of genomic discoveries. Finally, inclusive research that engages diverse populations is necessary for genomic discovery and translation to benefit all. We also highlight ways that genomics can be a fruitful testbed for the development and refinement of social and behavioral science theory. Indeed, an expanded ecological lens that runs from genomes to society will be required to fully understand human behavior.

The structure of emotional support networks in families affected by Lynch syndrome.

Genetic risk is particularly salient for families and testing for genetic conditions is necessarily a family-level process. Thus, risk for genetic disease represents a collective stressor shared by family members. According to communal coping theory, families may adapt to such risk vis-a-vis interpersonal exchange of support resources. We propose that communal coping is operationalized through the pattern of supportive relationships observed between family members. In this study, we take a social network perspective to map communal coping mechanisms to their underlying social interactions and include those who declined testing or were not at risk for Lynch Syndrome. Specifically, we examine the exchange of emotional support resources in families at risk of Lynch Syndrome, a dominantly inherited cancer susceptibility syndrome. Our results show that emotional support resources depend on the testing-status of individual family members and are not limited to the bounds of the family. Network members from within and outside the family system are an important coping resource in this patient population. This work illustrates how social network approaches can be used to test structural hypotheses related to communal coping within a broader system and identifies structural features that characterize coping processes in families affected by Lynch Syndrome.

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

BACKGROUND: Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000-130,000 in the United States.1,2 Nutrition management is a main intervention for PA. Research in inborn errors of metabolism such as phenylketonuria has identified association of parental perceptions and practices with dietary outcomes. Parental perceptions and practices in the nutrition management of PA have not been investigated. OBJECTIVE: To assess the dietary perceptions and practices of parental caregivers of children affected by PA. METHODS: PA parents were surveyed about perceptions and practices associated with feeding their affected child(ren). The single-page survey was anonymous, and responses to survey items were not identifiable. Parents provided information on how often they followed the prescribed diet and the rationale for any adjustments. RESULTS: Parents "always" or "most of the time" followed the prescribed diet for children 4-20 years of age; yet, open-ended responses indicated that 71.4% made situational adjustments to their child's diet for a variety of reasons, including illness, iatrogenic effects, and social events. CONCLUSIONS: PA parents make situational adjustments to their child's highly specialized diet. Uncertainty exists as to the situational adjustments being within the guidelines used by the metabolic healthcare team who rely on parents to inform them about dietary situational adjustments.