title: A longitudinal study of the Friedreich Ataxia Impact Scale.
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.
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
authors.forename: Geneieve
authors.initials: G
authors.lastname: Tai
authors.affiliation: 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.
authors.forename: Eppie M
authors.initials: EM
authors.lastname: Yiu
authors.affiliation: 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.
authors.forename: Louise A
authors.initials: LA
authors.lastname: Corben
authors.affiliation: 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. Electronic address: martin.delatycki@ghsv.org.au.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
mesh_terms: D000328:Adult; D004185:Disability Evaluation; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000503:physiopathology / Q000523:psychology; D006304:Health Status; D006305:Health Status Indicators; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D011788:Quality of Life / Q000523:psychology*; D012720:Severity of Illness Index; D013060:Speech; D011795:Surveys and Questionnaires / Q000592:standards; D013997:Time Factors
keywords: Friedreich Ataxia Impact Scale; Friedreich ataxia; Health status; Rating scales