Background: CLN3 disease is a rare, inherited neurodegenerative disease that typically starts in childhood. Given the progressive and fatal nature of the disease, it is likely to affect the health-related quality of life (HRQOL) of both the child and the family unit. In this study, we evaluated HRQOL and family function in individuals with CLN3 disease and their families.
Methods: Data were obtained from longitudinal, observational studies on CLN3 disease at the University of Rochester Batten Center. Assessments were completed at variable intervals from 2006-2024. Parents completed the PedsQL, which assesses child HRQOL, and the PedsQL FIM, which assesses parent QoL and family impact related to the affected child’s health. In a subset of participants, we concurrently administered the Unified Batten Disease Rating Scale (UBDRS), a global assessment of CLN3 disease.
Results: Data from 71 participants were included in this study, of whom 21 participants had concurrent UBDRS data. Mean (SD) Total scores were 48.2 (19.7) on the PedsQL and 51.2 (16.5) on the PedsQL FIM. Worse child HRQOL was associated with more severe physical impairment (rs= -0.77, p<0.0001) and worse functional capability (rs = -0.75, p=0.0001). In contrast, family impact was not associated with CLN3 disease symptom severities. On longitudinal analysis, child HRQOL (PedsQL Total Score) worsened over time (mean change: 2 points/year, p<0.0001) but family impact (PedsQL FIM Total Score) did not significantly change over time (mean change: 0.2 points/year, p=0.38).
Conclusions: Children with CLN3 disease and their families have reduced HRQOL and function. Child HRQOL worsens over time while impact of CLN3 disease on the family does not change over time. This information may be important for clinical care and trial design in CLN3 disease.