Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study
Creators: name: Fujino, Haruo
name: Takahashi, Masanori P.
name: Nakamura, Harumasa
name: Heatwole, Chad R.
name: Takada, Hiroto
name: Kuru, Satoshi
name: Ogata, Katsuhisa
name: Enomoto, Kiyoka
name: Hayashi, Yuto
name: Imura, Osamu
name: Matsumura, Tsuyoshi
Publisher: name: Taylor & Francis
Year: 2024
Subjects: subject: Medicine
subject: Neuroscience
subject: Biotechnology
subject: Sociology
subject: FOS: Sociology
subject: Biological Sciences not elsewhere classified
subject: Developmental Biology
subject: Science Policy
subject: Hematology

description: The Facioscapulohumeral Muscular Dystrophy Health Index (FSHD-HI) is a patient-reported outcome measure developed for patients with FSHD. This study aimed to translate the FSHD-HI into Japanese (FSHD-HI-J), evaluate cultural adaptation, and examine its psychometric properties. We created two forward translations, integrated them into a single Japanese version, and evaluated the back-translated version of the FSHD-HI. After finalizing the translation and cultural adaptation, we conducted a survey of 66 patients with FSHD to examine the reliability and validity of the FSHD-HI-J. For psychometric evaluations, we used Cronbach’s alpha to assess internal consistency, the intraclass correlation coefficient (ICC) for test-retest reliability, and assessed validity based on the associations between FSHD-HI-J, clinical variables, and quality of life measures. The FSHD-HI-J was found to be clinically relevant, indicating high internal consistency and test-retest reliability (ICC = 0.92 [95% confidence interval: 0.86-0.95] for the total score), as well as significant associations with clinical variables (D4Z4 repeats and functional impairment) and other quality of life measures (|rho| = 0.25-0.73). The FSHD-HI-J is a valid and reliable patient-reported outcome measure for Japanese patients with FSHD. This validated, disease-specific patient-reported outcome is essential for future clinical practice and clinical trials. Facioscapulohumeral muscular dystrophy (FSHD) affects not only a patient’s physical abilities but also their social activities, participation, and overall quality of life.The FSHD-Health Index (FSHD-HI) is an instrument developed as a disease-specific patient-reported outcome measure to evaluate the burden experienced by patients.The Japanese version of the FSHD-HI has been established as a reliable and validated measure for Japanese-speaking patients with FSHD.The Japanese version of the FSHD-HI can serve as a useful instrument for evaluating the effectiveness of interventions in future trials. Facioscapulohumeral muscular dystrophy (FSHD) affects not only a patient’s physical abilities but also their social activities, participation, and overall quality of life. The FSHD-Health Index (FSHD-HI) is an instrument developed as a disease-specific patient-reported outcome measure to evaluate the burden experienced by patients. The Japanese version of the FSHD-HI has been established as a reliable and validated measure for Japanese-speaking patients with FSHD. The Japanese version of the FSHD-HI can serve as a useful instrument for evaluating the effectiveness of interventions in future trials.