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Research Article| Volume 352, ISSUE 1-2, P53-57, May 15, 2015

A longitudinal study of the Friedreich Ataxia Impact Scale

  • Geneieve Tai
    Affiliations
    Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia
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  • Eppie M. Yiu
    Affiliations
    Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia

    Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia

    Department of Neurology, Royal Children's Hospital, Parkville, Victoria 3052, Australia
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  • Louise A. Corben
    Affiliations
    Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia

    School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia
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  • Martin B. Delatycki
    Correspondence
    Corresponding author at: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria 3052, Australia. Tel.: +61 3 9496 4355; fax: +61 3 8341 6390.
    Affiliations
    Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia

    School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia

    Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia

    Department of Clinical Genetics, Austin Health, Heidelberg, Victoria 3084, Australia
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Published:March 25, 2015DOI:https://doi.org/10.1016/j.jns.2015.03.024

      Highlights

      • The Friedreich Ataxia Impact Scale (FAIS) is a patient reported outcome measure developed for FRDA.
      • The relationship between the FAIS and clinical characteristics of FRDA was assessed.
      • The responsiveness of the FAIS to change over one and two years was determined.
      • The FAIS is a valuable tool for measuring health status in FRDA.
      • The FAIS has limited responsiveness and its use in intervention studies is uncertain.

      Abstract

      Background

      Quality of life in Friedreich ataxia (FRDA) has been explored using various generic health status measurement tools, most commonly the Short Form Health Survey Version 2 (SF-36v2). The tool did not address many specific issues related to disease impact in people with FRDA. The Friedreich Ataxia Impact Scale (FAIS) was developed to examine clinically relevant areas in FRDA. The aims of the current study were to assess the relationship between the FAIS and clinical characteristics of FRDA, as well as to determine the responsiveness of the FAIS to change over one and two years.

      Methods

      One hundred and four individuals with FRDA, homozygous for the GAA expansion in intron 1 of FXN, completed the FAIS at baseline. Seventy individuals completed the FAIS again 12 months later and 49 completed the FAIS at 24 months. Clinical parameters and neurologic scales (Friedreich Ataxia Rating Scale (FARS)) were also recorded.

      Results

      The total FARS score, onset age and disease duration correlated significantly with FAIS subscales measuring symptoms and physical functioning. The physical and mental summary measures of the SF-36 V2 also correlated well with the FAIS subscales. Speech was the only subscale that demonstrated significant change over one and two years.

      Conclusions

      The FAIS provides valuable insight into the perspective of individuals with FRDA on their health status, and is an important measure of morbidity. It has, however, limited responsiveness to change and its use in intervention studies is questionable.

      Keywords

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