Health-related quality of life in rare gorms 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, an...
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| Hauptverfasser: | , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
Jan 2026
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| In: |
Annals of Clinical and Translational Neurology
Year: 2026, Jahrgang: 13, Heft: 1, Pages: 193-199 |
| ISSN: | 2328-9503 |
| DOI: | 10.1002/acn3.70244 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1002/acn3.70244 Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.70244 
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| Verfasserangaben: | Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi-Fakhari |
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| 245 | 1 | 0 | |a Health-related quality of life in rare gorms of childhood-onset hereditary spastic paraplegia |c Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi-Fakhari |
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| 520 | |a 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 | ||
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