Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.

ABSTRACT: Despite their importance, rare diseases' impact on patients and families is understudied. This is particularly true for ultrarare disorders, such as multiple sulfatase deficiency (MSD), a pediatric neurodegenerative disorder. To address this gap, we captured caregiver perspectives on how multiple sulfatase deficiency affects their child, themselves, and their families regarding adaptive behaviors and health-related quality of life.Overall, 19 multiple sulfatase deficiency caregivers participated in assessments capturing health outcomes related to daily functional abilities (Vineland Adaptive Behavior Scale-Third Edition [VABS-3]: n = 19), child health-related quality of life (Caregiver Priorities and Child Health Index of Life with Disabilities: n = 12; Pediatric Quality of Life Inventory-

SUBMITTER: Gavazzi F 

PROVIDER: S-EPMC12240456 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature