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Jordan C, Geisel G, Alecu JE, et al. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurol Genet. 2021;7(4):e605doi: 10.1212/NXG.0000000000000605.
Jordan, C., Geisel, G., Alecu, J. E., Zhang, B., Sahin, M., & Ebrahimi-Fakhari, D. (2021). Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurology. Genetics, 7(4), e605. https://doi.org/10.1212/NXG.0000000000000605
Jordan, Catherine, et al. "Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia." Neurology. Genetics vol. 7,4 (2021): e605. doi: https://doi.org/10.1212/NXG.0000000000000605
Jordan C, Geisel G, Alecu JE, Zhang B, Sahin M, Ebrahimi-Fakhari D. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurol Genet. 2021 Jul 20;7(4):e605. doi: 10.1212/NXG.0000000000000605. eCollection 2021 Aug. PMID: 34295967; PMCID: PMC8293284.
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Neurol Genet. 2021 Jul 20;7(4):e605. doi: 10.1212/NXG.0000000000000605. eCollection 2021 Aug.

Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia.

Neurology. Genetics

Catherine Jordan, Gregory Geisel, Julian E Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari

Affiliations

  1. Department of Neurology and The F.M. Kirby Neurobiology Center (C.J., G.G., J.E.A., M.S., D.E.-F.), Rosamund Stone Zander Translational Neuroscience Center (G.G., M.S.), and ICCTR Biostatistics and Research Design Center (B.Z.), Boston Children's Hospital, Harvard Medical School, MA.

PMID: 34295967 PMCID: PMC8293284 DOI: 10.1212/NXG.0000000000000605

Abstract

OBJECTIVE: AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a childhood-onset neurogenetic disease and mimic of cerebral palsy. Data on health-related quality of life (HRQoL) are lacking. To establish a metric for HRQoL and caregiver priorities, we used the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire to assess HRQoL in correlation with disease severity in 64 patients with AP-4-HSP.

METHODS: A cross-sectional analysis of caregiver-reported HRQoL was performed using the CPCHILD questionnaire in combination with a detailed clinical characterization.

RESULTS: HRQoL was impaired in all domains in patients with AP-4-HSP (mean score: 59.6 ± 12.6 [SD]), with no significant difference between the 4 subtypes. Age, as a surrogate for disease duration, and Spastic Paraplegia Rating Scale scores, as an indicator for corticospinal tract dysfunction and motor impairment, correlated with lower CPCHILD scores (Pearson

CONCLUSIONS: We show that the CPCHILD questionnaire, developed for use in children with cerebral palsy, can be used to assess HRQoL in patients with childhood-onset complex hereditary spastic paraplegia. HRQoL is reduced in patients with AP-4-HSP and correlates with the degree of motor impairment. These results provide a framework for medical decision making and a baseline for the future development of treatment guidelines and interventional trials.

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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