Anxiety and quality‐of‐life for parents of children with undiagnosed rare conditions: A multi‐site quantitative survey study

Parenting a child with a rare undiagnosed genetic condition can impact psychological well‐being, including anxiety and health‐related quality‐of‐life. We conducted a multi‐site quantitative survey with parents to understand which parent and child characteristics are predictive of poorer psychological outcomes. 1366 surveys were sent out across seven NHS Trusts in England; 383 were returned and included in analysis (27% response rate). We used the GAD‐7 to measure parents' generalized anxiety and the PedsQL Family Impact Module (FIM) to measure self‐reported physical, emotional, social, and cognitive functioning (the health‐related quality‐of‐life [HRQOL] summary score), communication, worry, daily activities, and family relationships (the family functioning [FF] summary score). Participant characteristics included: the 6‐item Brief Resilience Scale to measure parental resilience, a bespoke single question to assess parents' tolerance for uncertainty, the EQ‐5D‐Y‐3L to measure child health‐related quality‐of‐life, two bespoke questions to assess the perceived seriousness/consequences of the child's condition, and standard characteristics questions (e.g., age, ethnicity, education, income). Overall, parental anxiety was low (mean = 5.31; SD = 5.82, range 0–21), although 21.9% had moderate (11.4%) or severe (10.5%) anxiety. A multivariable analysis indicated that higher anxiety scores were significantly associated with younger parental age ( p = 0.010), lower education attainment (0.004), lower resilience ( p = 0.049), and lower tolerance for uncertainty ( p = 0.021). FIM total scores ranged from 0 to 100 (mean = 53.68, SD 20.45). Parents scored lowest on the subscale daily activities (43.68), worry (47.29), communication (51.31), and physical functioning (52.45). Family functioning summary scores were significantly lower for parents of children with developmental disorders compared to other conditions ( p = 0.016). Multivariable analysis identified that lower scores (reflecting poorer outcomes) were significantly associated with lower parental resilience and lower tolerance for uncertainty ( p < 0.001, respectively). Our findings highlight the significant psychological burden parenting a child with a rare undiagnosed condition can have on some parents and the importance of developing tailored support strategies.