Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia
We assessed health-related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician-reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms. Children with complex HSP phenotypes had lower scores than those with pure forms. Scores correlated with established clinical scales but declined with age only in HSP-SPG11 and HSP-ZFYVE26. These findings identify key determinants of reduced quality of life and highlight clinical targets for supportive interventions in childhood-onset hereditary spastic paraplegia. Trial Registration: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia: NCT04712812.
Authors
- Kathryn Yang (ORCID: https://orcid.org/0009-0004-6892-5189)
- Sally E. Carty (ORCID: https://orcid.org/0000-0002-8288-3884)
- Amy Tam (ORCID: https://orcid.org/0000-0003-2072-3436)
- Darius Ebrahimi‐Fakhari (ORCID: https://orcid.org/0000-0002-0026-4714)
- Zainab Zaman
- Julian E. Alecu (ORCID: https://orcid.org/0000-0002-1420-9775)
- Katerina Bernardi (ORCID: https://orcid.org/0009-0004-3387-7623)
- Vicente Quiroz (ORCID: https://orcid.org/0009-0005-9212-0943)
- Luca Schierbaum (ORCID: https://orcid.org/0009-0002-4884-9647)
- Junkang Rong (ORCID: https://orcid.org/0000-0002-2508-7611)
- H. Schmidt (ORCID: https://orcid.org/0009-0000-1058-1177)
- Nicole Battaglia (ORCID: https://orcid.org/0009-0008-9751-4580)
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- Heidelberg University (DE)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-11-06
- DOI
- https://doi.org/10.1002/acn3.70244
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Spastic Paraplegia Foundation