Jennifer Vermilion MD , Erika F. Augustine MD, MS , Jonathan W. Mink MD, PhD , Michael P. McDermott PhD , Amy Vierhile DNP , Marianna Pereira-Freitas BA , Heather R. Adams PhD
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引用次数: 0
Abstract
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.
期刊介绍:
Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system.
Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.