A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

Atsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, Haruhiko Banno, Noriaki Suga, Tomoo Mano, Amane Araki, Yasuhiro Hijikata, Christopher Grunseich, Angela Kokkinis, Akihiro Hirakawa, Hirohisa Watanabe, Masahiko Yamamoto, Kenneth H. Fischbeck, Gen Sobue

Research output: Contribution to journalArticlepeer-review

48 Citations (Scopus)

Abstract

We aimed to develop, validate, and evaluate a disease-specific outcome measure for SBMA: the Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS). We examined the Japanese version (SBMAFRS-J) in 80 Japanese SBMA subjects to evaluate its validity and reliability. We then assessed this scale longitudinally in 41 additional SBMA subjects. The English version (SBMAFRS-E) was also tested in 15 US subjects. The total score of the SBMAFRS-J was distributed normally without an extreme ceiling or floor effect. For SBMAFRS-J, the high intra- and inter-rater agreement was confirmed (intra-class correlation coefficients [ICCs] 0.910 and 0.797, respectively), and internal consistency was satisfactory (Cronbach's alpha 0.700-0.822). In addition, SBMAFRS-J demonstrated concurrent, convergent, and discriminant validity, except for the respiratory subscale. The inter-rater reliability and internal consistency of SBMAFRS-E were also satisfactory. Longitudinally, SBMAFRS-J showed a higher sensitivity to disease progression than the existing clinical measures. In conclusion, we developed and validated a disease-specific functional rating scale for SBMA in both Japanese and English versions, although it needs to be re-assessed in interventional studies with a larger sample size including English speaking subjects.

Original languageEnglish
Pages (from-to)554-562
Number of pages9
JournalNeuromuscular Disorders
Volume25
Issue number7
DOIs
Publication statusPublished - 01-07-2015
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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