Impact of CLN3 Disease on Child Quality of Life and Family Function.

BACKGROUND

CLN3 disease is a rare inherited neurodegenerative disease that typically starts in childhood. Given the progressive nature of the disease, it likely affects 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 to 2024. Parents completed the PedsQL, which assesses child HRQOL, and the PedsQL FIM, which assess family impact. In a subset of participants, we concurrently administered the Unified Batten Disease Rating Scale, a global assessment of CLN3 disease.

RESULTS

Data from 71 participants were included in this study, of which 21 participants had concurrent Unified Batten Disease Rating Scale data. Mean (SD) PedsQL Total (48.2 (19.7)) and PedsQL FIM Total (51.2 [16.5]) scores were low. Worse child HRQOL was associated with physical impairment from more severe CLN3 disease (rs= -0.77, P < 0.0001) and worse functional capability (rs = -0.75, P = 0.0001). In contrast, family impact severity was not associated with symptom severities of CLN3 disease. On longitudinal analysis, child HRQOL (PedsQL Total Score) worsened over time (P < 0.0001), but family impact (PedsQL FIM Total Score) did not significantly change over time (P = 0.38).

CONCLUSIONS

Children with CLN3 disease and their families are at high risk of impaired HRQOL and function. This information may provide important information for clinical care and trial design in CLN3 disease.