How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1

Abstract Background EQ-5D-Y is a pediatric preference-based health-related quality of life (HRQL) measure that is recommended in health economic evaluation according to China’s guidelines. However, there is limited evidence regarding how the EQ-5D-Y perform in patients with rare diseases in the coun...

Full description

Saved in:
Bibliographic Details
Main Authors: Wanxian Liang, Shihuan Cao, Yusi Suo, Lining Zhang, Lujia Yang, Hanfei Wang, Han Wang, Xuejing Jin
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-025-03590-x
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850024835264020480
author Wanxian Liang
Shihuan Cao
Yusi Suo
Lining Zhang
Lujia Yang
Hanfei Wang
Han Wang
Xuejing Jin
author_facet Wanxian Liang
Shihuan Cao
Yusi Suo
Lining Zhang
Lujia Yang
Hanfei Wang
Han Wang
Xuejing Jin
author_sort Wanxian Liang
collection DOAJ
description Abstract Background EQ-5D-Y is a pediatric preference-based health-related quality of life (HRQL) measure that is recommended in health economic evaluation according to China’s guidelines. However, there is limited evidence regarding how the EQ-5D-Y perform in patients with rare diseases in the country. Neurofibromatosis type 1 (NF1) is a rare disease that affects the growth and development of underage patients. This study aimed to examine the performance of EQ-5D-Y proxy version among underage NF1 patients in China. Methods Data from a nationwide cross-sectional survey from Nov 2022 to Jan 2023 was used. A total of 154 caregivers for underage NF1 patients who completed the EQ-5D-Y proxy version, PedsQL 4.0 Generic Core Scales (PedsQL GCS) proxy version, and Zarit Burden Interview (ZBI-22) were included. The performance of the EQ-5D-Y was assessed by response pattern (ceiling and floor effects), convergent validity against the PedsQL GCS, known-groups validity, and Shannon (H’) and Shannon evenness (J’) indices. Result Data from 154 caregivers were analyzed. The mean age of caregivers was 38.23 (6.02) years, and 78.57% of them were mothers of NF1 patients. The mean age of NF1 patients was 8.38 (3.34) years, with 51.30% being females. The ceiling effect of EQ-5D-Y was 30.52%, and floor effect was 0%. Moderate to strong correlations were found between EQ-5D-Y and PedsQL GCS dimensions that share similar constructs (rho − 0.42 to -0.60, all p values < 0.001). The hypotheses of known-groups defined by different PedsQL GCS and ZBI scores were validated. The EQ-5D-Y exhibited the strongest informativity and discriminatory power of the “feeling worried, sad or unhappy” dimension and weakest for the “mobility” dimension (H’(mobility) = 0.60, J’(mobility) = 0.38; H’(feeling worried, sad or unhappy) = 1.23, J’(feeling worried, sad or unhappy) = 0.78). Conclusions EQ-5D-Y is acceptable for measuring HRQL of underage NF1 patients in China. More evidence for using EQ-5D-Y in rare diseases is awaited.
format Article
id doaj-art-12798ee2f22f4b7ca383fcbbcaababea
institution DOAJ
issn 1750-1172
language English
publishDate 2025-02-01
publisher BMC
record_format Article
series Orphanet Journal of Rare Diseases
spelling doaj-art-12798ee2f22f4b7ca383fcbbcaababea2025-08-20T03:01:00ZengBMCOrphanet Journal of Rare Diseases1750-11722025-02-0120111110.1186/s13023-025-03590-xHow does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1Wanxian Liang0Shihuan Cao1Yusi Suo2Lining Zhang3Lujia Yang4Hanfei Wang5Han Wang6Xuejing Jin7Center for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineCenter for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese MedicineAbstract Background EQ-5D-Y is a pediatric preference-based health-related quality of life (HRQL) measure that is recommended in health economic evaluation according to China’s guidelines. However, there is limited evidence regarding how the EQ-5D-Y perform in patients with rare diseases in the country. Neurofibromatosis type 1 (NF1) is a rare disease that affects the growth and development of underage patients. This study aimed to examine the performance of EQ-5D-Y proxy version among underage NF1 patients in China. Methods Data from a nationwide cross-sectional survey from Nov 2022 to Jan 2023 was used. A total of 154 caregivers for underage NF1 patients who completed the EQ-5D-Y proxy version, PedsQL 4.0 Generic Core Scales (PedsQL GCS) proxy version, and Zarit Burden Interview (ZBI-22) were included. The performance of the EQ-5D-Y was assessed by response pattern (ceiling and floor effects), convergent validity against the PedsQL GCS, known-groups validity, and Shannon (H’) and Shannon evenness (J’) indices. Result Data from 154 caregivers were analyzed. The mean age of caregivers was 38.23 (6.02) years, and 78.57% of them were mothers of NF1 patients. The mean age of NF1 patients was 8.38 (3.34) years, with 51.30% being females. The ceiling effect of EQ-5D-Y was 30.52%, and floor effect was 0%. Moderate to strong correlations were found between EQ-5D-Y and PedsQL GCS dimensions that share similar constructs (rho − 0.42 to -0.60, all p values < 0.001). The hypotheses of known-groups defined by different PedsQL GCS and ZBI scores were validated. The EQ-5D-Y exhibited the strongest informativity and discriminatory power of the “feeling worried, sad or unhappy” dimension and weakest for the “mobility” dimension (H’(mobility) = 0.60, J’(mobility) = 0.38; H’(feeling worried, sad or unhappy) = 1.23, J’(feeling worried, sad or unhappy) = 0.78). Conclusions EQ-5D-Y is acceptable for measuring HRQL of underage NF1 patients in China. More evidence for using EQ-5D-Y in rare diseases is awaited.https://doi.org/10.1186/s13023-025-03590-xEQ-5D-YMeasurement propertiesNeurofibromatosis type 1Health-related quality of lifeRare diseases
spellingShingle Wanxian Liang
Shihuan Cao
Yusi Suo
Lining Zhang
Lujia Yang
Hanfei Wang
Han Wang
Xuejing Jin
How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1
Orphanet Journal of Rare Diseases
EQ-5D-Y
Measurement properties
Neurofibromatosis type 1
Health-related quality of life
Rare diseases
title How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1
title_full How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1
title_fullStr How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1
title_full_unstemmed How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1
title_short How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1
title_sort how does a preference based generic health related quality of life measure perform in patients with a rare disease measurement properties of the eq 5d y proxy version among underage patients with neurofibromatosis type 1
topic EQ-5D-Y
Measurement properties
Neurofibromatosis type 1
Health-related quality of life
Rare diseases
url https://doi.org/10.1186/s13023-025-03590-x
work_keys_str_mv AT wanxianliang howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT shihuancao howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT yusisuo howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT liningzhang howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT lujiayang howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT hanfeiwang howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT hanwang howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1
AT xuejingjin howdoesapreferencebasedgenerichealthrelatedqualityoflifemeasureperforminpatientswithararediseasemeasurementpropertiesoftheeq5dyproxyversionamongunderagepatientswithneurofibromatosistype1