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.