Health-related quality of life in AP-4-associated hereditary spastic paraplegia

Takeaway

  • The Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) is an effective instrument for assessing health-related quality of life (HRQOL) in children with AP-4-associated hereditary spastic paraplegia (AP-4-HSP).

Why this matters ?

  • AP-4-HSP is a pediatric-onset neurogenetic disease that mimics cerebral palsy, characterized by motor symptoms on a background of global developmental delay, intellectual disability, seizures, and musculoskeletal complications. As such, patients with AP-4-HSP have significant difficulty in performing activities of daily living.

  • To date, there is no metric for assessing HRQOL in patients with AP-4-HSP. It is possible that a revised CPCHILD instrument, originally developed for use in children with cerebral palsy, could meet this clinical need for patients of any age with AP-4-HSP.