The facioscapulohumeral muscular dystrophy – health index: Italian validation of a disease-specific measure of symptomatic burden

Abstract

Purpose

The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy – Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort.

Materials and methods

Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach’s Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson’s and Spearman’s Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects.

Results

The Italian translation of the FSHD-HI and its subscales were highly relevant to patients, had a high internal consistency (Cronbach’s Alpha = 0.90), optimal test-retest reliability (ICC= 0.95), and was significantly associated with motor function, respiratory function, and QoL assessments.

Conclusions

Overall, the Italian FSHD-HI is a valid and well-suited measurement of the multi-dimensional aspects of disease burden in FSHD patients.

IMPLICATIONS FOR REHABILITATION

• Facioscapulohumeral muscular dystrophy (FSHD) negatively impacts the quality of life and increases the disease burden.

• It is important for the clinical community to have a valid instrument that can serially measure a patient’s perception of their multifactorial disease burden in FSHD.

• The Facioscapulohumeral Muscular Dystrophy – Health Index (FSHD-HI) is a valid instrument that allows patients to provide their perspective regarding their current health state.

• FSHD-HI-IT provides a valid option for measuring multifactorial disease burden in Italian patients with FSHD during clinical trials.

Keywords:

• Muscular dystrophy
• facioscapulohumeral muscular dystrophy
• facioscapulohumeral muscular dystrophy health index
• FSHD-HI
• Italian validation

Acknowledgements

A special thanks to all of NEMO’s staff for the hard work and the constant commitment they show every day to the patients and with the caregivers. Additionally, we are particularly grateful to all patients and their families for their continuous support and collaboration. Licensing of the FSHD-HI and/or FSHD-HI-IT can be arranged through the University of Rochester, New York at: https://www.rochester.edu/ventures.

FSHD-HI-IT is available upon request by contacting the corresponding author at the following e-mail: [email protected].

Disclosure statement

Author AL has received compensation for occasional scientific consulting from Italfarmaco, author VAS participates in Advisory Boards or Teaching activities for Biogen, Roche, Avexis, PTC, Santhera, Sarepta, and Dyne. The remaining authors report there are no competing interests to declare.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.