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01.12.2012 | Research | Ausgabe 1/2012 Open Access

Health and Quality of Life Outcomes 1/2012

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Zeitschrift:
Health and Quality of Life Outcomes > Ausgabe 1/2012
Autoren:
Uma Ramaswami, Donald E Stull, Rossella Parini, Guillem Pintos-Morell, Catharina Whybra, Gisela Kalkum, Marianne Rohrbach, Mireia Raluy-Callado, Michael Beck, Wen-Hung Chen, Ingela Wiklund
Wichtige Hinweise

Competing interests

Uma Ramaswami has received travel and research grants and honoraria for invited lectures from Shire HGT, Genzyme and Actelion. Gisela Kalkum has received travel and congress grants from Shire HGT. Donald Stull is employed by RTI Health Solutions (RTI-HS) but during the development of this manuscript he was employed by United BioSource Corporation (UBC). Both companies provide consulting and other research services to pharmaceutical, device, government, and non-government organizations. In his salaried positions, he works with a variety of companies and organizations. He receives no payment or honoraria directly from these organizations for services rendered. Guillem Pintos-Morell has received honoraria, travel, and research grants from Shire HGT. Michael Beck has received honoraria, travel support, and unrestricted grants from Shire, Genzyme, Biomarin, and Actelion. Catharina Whybra has received honoraria, travel, and research grants from Shire HGT. Rossella Parini has received travel and congress grants and honoraria for oral presentations from Shire HGT and Genzyme. Marianne Rohrbach has received honoraria, travel, and research grants from Shire HGT. Ingela Wiklund is employed by United BioSource Corporation (UBC), which provides consulting and other research services to pharmaceutical, device, government, and non-government organizations. In this salaried position, Ingela Wiklund works with a variety of companies and organizations. She receives no payment or honoraria directly from these organizations for services rendered. Mireia Raluy-Callado is employed by United BioSource Corporation (UBC), which provides consulting and other research services to pharmaceutical, device, government, and non-government organizations. In this salaried position, Mireia Raluy works with a variety of companies and organizations. She receives no payment or honoraria directly from these organizations for services rendered. Wen-Hung Chen is employed by United BioSource Corporation (UBC), which provides consulting and other research services to pharmaceutical, device, government, and non-government organizations. In this salaried position, Wen-Hung Chen works with a variety of companies and organizations. He receives no payment or honoraria directly from these organizations for services rendered.

Authors’ contributions

UR, RP, GPM, CW, GK, MR, and MB contributed to conception and design of the study, acquisition of data and interpretation of data; DES, MRC, WHC, and IW contributed to analysis and interpretation of data. All authors contributed to drafting the article or reviewing and revising it critically for important intellectual content; all authors approved the final version to be published. IW attests that the authors had access to all the study data, takes responsibility for the accuracy of the analysis, and had authority over manuscript preparation and the decision to submit the manuscript for publication.

Abstract

Introduction

Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists.

Methods

A preliminary 40-item measure of symptoms and experience with FD, the Fabry-specific Paediatric Health and Pain Questionnaire (FPHPQ) was developed, but lacked a formal assessment of its measurement properties. The FPHPQ was used in the Fabry Outcome Survey (FOS), a registry for all patients with a confirmed diagnosis of FD who are receiving agalsidase alfa, or are treatment naïve and who are managed by physicians participating in FOS. After an item analysis to explore how items performed and combined into domains, a battery of psychometric analyses was performed to assess the measurement properties of this new instrument.

Results

Eighty-seven children (ages 4-18 years) completed the questionnaire. Twenty-three items in three subscales of the questionnaire emerged: pain associated with heat or exertion, pain associated with cold, and abdominal pain and fatigue symptoms. Internal consistency reliability for all three subscales was good (Cronbach alpha ≥ 0.84). Reliability was equally high for all age groups (4-7, 8-12, and 13-18). Test-retest reliability was high for all three subscales (intraclass correlation coefficient ≥ 0.74). Construct validity was demonstrated by moderate correlation with brief pain inventory (BPI), KINDL, and EQ-5D. Known group validity showed all subscales were able to discriminate between Fabry disease severity groups as classified by above or below median of the FOS MSSI (Mainz Severity Score Index) grade. The heat or exertion subscale was responsive to change in symptoms between responders and non-responders as defined by change in EQ-5D index scores between the first and second visit.

Conclusions

Preliminary results indicate that the measurement properties of FPHPQ are valid and reliable for assessing patient-reported symptoms of FD. The questionnaire could be a useful tool for clinicians to understand the progression of disease and monitor treatment effects. FPHPQ will be further validated and refined as the FOS registry is continuously adding more patients.
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