Inherited Disease, Caregiving, and Social Networks

National Human Genome Research Institute

Investigators

Linked publications & trials

Abstract

Our Caregiving Study has developed over three phases: Phase 1: Pilot Study In the first phase of the project, we completed a pilot study in collaboration with Dr. Sato Ashida at the University of Iowa. The pilot examined caregiving networks of families affected by Alzheimers Disease and Related Dementia (ADRD) and tested the CaRENet assessment tool (Caregiving Roles and Expectations within informal caregiving Networks). From this pilot study, we have shown the value of a multi-informant approach to capture the structure and makeup of caregiving social network systems and shown that social relationships can be both stressors and coping resources which have significant impact on caregiver wellbeing. During the current reporting period, this work has resulted in one publication demonstrating how prior history with ADRD results in variability in caregivers social support systems. Phase 2: Cross-Sectional Study In the Cross-Sectional phase of the study, we expanded our research 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 colleagues 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. During the current reporting period, we concluded recruitment of this phase of the study. To date, we have successfully consented 501 individuals from 247 families involved in caregiving networks. Of those consented, 416 have completed survey, 388 interview, and 185 provided biological samples. During the current reporting period, we published three papers on topics such as the impact of communal coping in caregiving, experiences of families caring for children with newborn screening-related conditions, and associations between caregiver stress and positive aspects of caregiving. Additionally, we currently have three manuscripts under review. Phase 3: Longitudinal Study Finally, we transitioned our Caregiving Study from a Cross-Sectional study design to Longitudinal during the current reporting period. With the introduction of this new phase of the study, we are conducting 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 throughout the course of each year, which will help us understand the day-to-day activities, stresses, and supports related to caregiving. During the current reporting period, we have successfully consented 32 individuals from 24 families involved in caregiving networks. Of those consented, 27 have completed survey and 21 interview.