Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study

Haruo Fujino; Masanori P Takahashi; Harumasa Nakamura; Chad R Heatwole; Hiroto Takada; Satoshi Kuru; Katsuhisa Ogata; Kiyoka Enomoto; Yuto Hayashi; Osamu Imura; Tsuyoshi Matsumura

doi:10.1080/09638288.2024.2322035

Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study

Disabil Rehabil. 2024 Mar 31:1-10. doi: 10.1080/09638288.2024.2322035. Online ahead of print.

Authors

Haruo Fujino¹, Masanori P Takahashi², Harumasa Nakamura³, Chad R Heatwole^{4

5}, Hiroto Takada⁶, Satoshi Kuru⁷, Katsuhisa Ogata⁸, Kiyoka Enomoto^{1

9}, Yuto Hayashi¹⁰, Osamu Imura¹¹, Tsuyoshi Matsumura¹²

Affiliations

¹ United Graduate School of Child Development, Osaka University, Suita, Osaka, Japan.
² Clinical Neurophysiology, Department of Clinical Laboratory and Biomedical Sciences, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
³ Department of Clinical Research Support, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
⁴ Department of Neurology, University of Rochester, Rochester, NY, USA.
⁵ Center for Health and Technology, Rochester, NY, USA.
⁶ Department of Neurology, NHO Aomori National Hospital, Aomori, Japan.
⁷ Department of Neurology, NHO Suzuka National Hospital, Suzuka, Mie, Japan.
⁸ Department of Neurology, NHO Higashisaitama National Hospital, Hasuda, Saitama, Japan.
⁹ Pain Management Clinic, Shiga University of Medical Science Hospital, Otsu, Shiga, Japan.
¹⁰ Department of Neurology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.
¹¹ Faculty of Social Sciences, Nara University, Nara, Japan.
¹² Department of Neurology, NHO Osaka Toneyama Medical Center, Toyonaka, Osaka, Japan.

PMID: 38555736
DOI: 10.1080/09638288.2024.2322035

Abstract

Purpose: 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.

Materials and methods: 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.

Results: 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).

Conclusions: 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.

Keywords: Facioscapulohumeral muscular dystrophy; disease burden; neuromuscular disorder; patient-reported outcomes; quality of life.

Plain language summary

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.