Inherited Disease, Caregiving, and Social Networks

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

Our Caregiving Study has developed over three phases: Phase 1: Alzheimer’s Disease and Related Dementia (ADRD) In collaboration with Dr. Sato Ashida at the University of Iowa, initial research was completed in the caregiving context of Alzheimer’s Disease and Related Dementia (ADRD). In this work, we examined caregiving networks of families affected by ADRD and evaluated the novel CaRENet (Caregiving Roles and Expectations within informal caregiving Networks) assessment tool grounded in a social network framework. From this study, we demonstrated the value of a multi-informant approach to capture the structure and makeup of caregiving social network systems and that social relationships can be both stressors and coping resources which have significant impact on caregiver wellbeing. More recent efforts identified caregivers with distinct caregiving experience profiles which were associated with both demographic characteristics and retention in a community-based intervention to support caregivers. Phase 2: Pediatric Rare Disease (Cross-Sectional Study) The project was expanded to consider how caregiving experiences might differ according to the life stage, disease context, and disease stage faced by each caregiver and care recipient. As such, we partnered with physician-scientists who have established patient cohorts in the NIH Clinical Center, including 1) Inborn errors of metabolism, 2) Mitochondrial disorders, 3) CLN3 Batten disease, 4) Undiagnosed diseases, and 5) Other diagnoses. In each, patients require significant caregiving resources related to activities of daily living. Those enrolled in this research completed a survey and interview, and primary caregivers who visited the NIH Clinical Center were also asked to provide samples for biomarker assessment. Uniquely, we also engaged families caring for typically developing children as a comparator. In total during this phase of the study, we successfully consented 501 individuals from 247 families involved in caregiving networks. Of those who consented, 416 completed survey, 388 interview, and 185 provided biological samples. Several findings have resulted from this study thus far. Using an innovative approach to assess shared appraisal, we demonstrated that caregivers who use more “we talk,” or first person plural pronouns, reported higher levels of network engagement in discussions about the child’s health, care roles, and support to caregiver. Both “we talk” and interpersonal coping strategies, such as social support, were associated with caregivers reporting more benefit finding in and positive aspects of caregiving experiences. Though rare disease caregivers report higher levels of communication about the child’s health and caregiving burden, we consistently find that expected associations are observed for both rare disease caregivers and caregivers of typically developing children. Our work also investigates connections between perceived stress and biological markers of stress, as well as the role that coping plays in this process. Surprisingly, we found differences in this stress to biological response across caregiving contexts, demonstrating that expected associations between stress and biomarkers, such as arginine vasopressin, were only observed for caregivers of typically developing children. In addition, we collected and analyzed one of the largest qualitative datasets describing caregivers’ experiences across the diagnostic journey. From these narratives, we identified several points of systems and policy level intervention related to navigating the healthcare system and managing the psychosocial challenges for those caring for children with rare genetic conditions. These findings informed the development of an 8-week peer support group which was offered as part of clinical support through NHGRI’s Office of the Clinical Director. Phase 3: Pediatric Rare Disease (Longitudinal Study) Finally, we transitioned our Caregiving Study from a Cross-Sectional study design to a Longitudinal design. With this current phase of the study, we conduct surveys and interviews with participants over the course of several years, instead of just once. Participants are asked to complete annual assessments every year for five years and three short surveys (i.e., daily diary log assessments) throughout the course of each year, which will help us understand the day-to-day activities, stresses, and supports related to caregiving. Primary caregivers who visit the NIH Clinical Center are also asked to provide a blood sample for analysis. In total, we have successfully consented 121 individuals from 96 families involved in caregiving networks. Of those consented, 107 have completed first-year surveys and 102 completed first-year interviews. Eighty-seven have enrolled in the second year of the study; 49 participants have enrolled in the third year of the study; and 12 participants have enrolled in the fourth year of the study. Sixteen individuals provided first-year blood samples, five individuals completed second-year blood samples, and two individuals provided third-year blood samples. No data associated with this study has been published as of yet, due to recruitment being ongoing.