Inherited Diseases, Caregiving, and Social Networks

Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged.
These caregivers experience significant distress associated with caregiving, which may be
particularly salient in the context of inherited conditions. Previous studies have not
examined caregiving from a network perspective, nor have they considered how cognitive and
emotional responses, such as caregivers worry for themselves and relatives acquiring the
disease or guilt related to the genetic etiology of their child s illness, as possible
stressors; the current project fills this literature gap.

Caregiving processes may vary across type of illness and the life course. In illnesses that
impact children, parents and grandparents may take on caregiving roles whereas in conditions
that impact adults, spouses and adult children may provide care. Caregivers must adapt to the
strain of caring for their affected relatives and this adaptation may differ depending on
caregiver roles. The caregiver s support network may influence adaptation, impacting the
health and well-being of patients, their caregivers, and other relatives.

This project, comprised of 5 substudies, will examine social contexts surrounding families
involved in caring for individuals with chronic inherited conditions from a relational
perspective. Surveys and interviews will assess participants cognitions and emotions about
the disease, caregiving burden and caregiving/support network systems. In addition,
biomarkers will be considered in 2 substudies to examine how caregiving roles and
expectations impact health among caregivers. As part of our current inquiry, we have

developed an assessment tool aimed at understanding caregiver experiences related to dietary
practices in the context of metabolic conditions. To evaluate the psychometric properties of
this scale, we propose a fifth substudy under the current protocol.

We aim to recruit at least 3300 participants through residential/daycare centers, advocacy
groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological
and non-biological adult relatives of patients and normally developing controls to construct
and evaluate caregiving/support network systems. This project will use a social network
framework to develop and adapt common measures of caregiving roles to evaluate burden,
perceptual bias, and unmet expectations in caregiving. The psychometric properties of these
new measures, characteristics of family caregiving and support networks, and how these
network characteristics are associated with caregiving strain and well-being, including
biomarkers of physical health, will be investigated. The moderating role of family members
cognitions and emotions and disease context will be considered. Findings will guide future
research to develop network-based interventions promoting positive adaptation to the presence
of inherited conditions in families through improved social environments and coping skills.

- INCLUSION CRITERIA:

- Adult family members of the individuals affected by an inherited disease (e.g.
Alzheimer s disease, inborn errors of metabolism and mitochondrial disease,
undiagnosed diseases) OR

- Informal caregivers of the affected individual OR

- Caregivers family members OR

- Formal caregivers who are identified as part of patients caregiving networks will be
eligible for recruitment in the study OR

- For the control group in Substudy 2, adult family members of normally developing
children, informal caregivers, caregivers family members and formal caregivers who are
identified as part of the child s caregiving network will be eligible for recruitment
in the study.

(For better matching across groups: in the Healthy Volunteer controls, the normally
developing focus child must live in the parent/caregiver household on a full-time basis.)

- Participants are eligible for biospecimen collection in Substudies 3 only if two
parents/caregivers are present in the household, eligible, and willing to provide
biospecimens.

- Fluency in English

EXCLUSION CRITERIA:

- Those who are unable to complete the survey and interviews

- Affected individuals/Patients with condition being studied

- Individuals under the age of 18

- Those who have fever or signs of acute infection on the collection day, have been
hospitalized in the past 3 months, and women who are currently pregnant or nursing
will not be eligible for the biospecimen collection portion of Substudies 2 and 3 but
will be eligible for the survey/interview portion of the substudies.

- Control group individuals will be excluded if they serve as a caregiver for anyone in
their family affected by any major medical condition.