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A comparison of three measures of upper limb function in Friedreich ataxia

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Abstract

Friedreich Ataxia (FRDA) is the commonest inherited ataxia. Clinical trials of pharmaceuticals are increasingly being conducted in this condition. This requires the most accurate outcome measures to enable trials to be conducted with a minimum number of subjects in the shortest time frame and to minimize the risk of false negative results. Upper limb function is a major area of morbidity in FRDA. We therefore have compared the performance of three tests of upper limb function in FRDA: the Nine Hole Peg Test (9HPT), Box and Blocks Test (BBT) and Jebsen Taylor Hand Function Test (JTHFT). This study was undertaken to ascertain the best test for inclusion in a Friedreich Ataxia Functional Composite (FAFC) test for use in clinical studies and therapeutic trials. The three tests were administered to the dominant and non-dominant upper limbs of 38 individuals with genetically proven FRDA on two occasions, 12 months apart. The results of testing were correlated with the following disease parameters; age at disease onset, disease duration and score for the Friedreich Ataxia Rating Scale (FARS). The responsiveness to change of each test was assessed by measuring the effect size and calculations of the number of subjects required for similarly powered therapeutic trials. Results for all tests correlated significantly with disease duration and FARS score. The only test scores that changed significantly over 12 months were those for the non-dominant 9HPT and BBT. Scores for these two tests also had the largest effect sizes and required the fewest subjects for similarly powered therapeutic trials. We conclude, therefore, that the non-dominant 9HPT and BBT are the best tests for inclusion in a FAFC. Since the 9HPT has already been suggested for inclusion in a FAFC, we recommend that this test is used but that it is the non-dominant limb that is tested.

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References

  1. Burns J, Bray P, Cross LA, North KN, Ryan MM, Ouvrier RA (2008) Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord 18:970–973

    Article  PubMed  Google Scholar 

  2. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427

    Article  CAS  PubMed  Google Scholar 

  3. Cossee M, Durr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschutter A, Muller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M (1999) Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45:200–206

    Article  CAS  PubMed  Google Scholar 

  4. Cutter GR, Baier ML, Rudick RA, Cookfair DL, Fischer JS, Petkau J, Syndulko K, Weinshenker BG, Antel JP, Confavreux C, Ellison GW, Lublin F, Miller AE, Rao SM, Reingold S, Thompson A, Willoughby E (1999) Development of a multiple sclerosis functional composite as a clinical trial outcome measure. Brain 122:871–882

    Article  PubMed  Google Scholar 

  5. Delatycki MB (2009) Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 256 Suppl(1):36–41

    Article  Google Scholar 

  6. Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM (1999) Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 87:168–174

    Article  CAS  PubMed  Google Scholar 

  7. Delatycki MB, Williamson R, Forrest SM (2000) Friedreich ataxia: an overview. J Med Genet 37:1–8

    Article  CAS  PubMed  Google Scholar 

  8. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169–1175

    Article  CAS  PubMed  Google Scholar 

  9. Fahey MC, Corben LA, Collins V, Churchyard AJ, Delatycki MB (2007) The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia. Neurology 68:705–706

    Article  CAS  PubMed  Google Scholar 

  10. Harding AE (1981) Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589–620

    Article  CAS  PubMed  Google Scholar 

  11. Hobart J, Kalkers N, Barkhof F, Uitdehaag B, Polman C, Thompson A (2004) Outcome measures for multiple sclerosis clinical trials: relative measurement precision of the expanded disability status scale and multiple sclerosis functional composite. Mult Scler 10:41–46

    Article  CAS  PubMed  Google Scholar 

  12. Jebsen RH, Taylor N, Trieschmann RB, Trotter MJ, Howard LA (1969) An objective and standardized test of hand function. Arch Phys Med Rehabil 50:311–319

    CAS  PubMed  Google Scholar 

  13. Junck L, Gilman S, Gebarski SS, Koeppe RA, Kluin KJ, Markel DS (1994) Structural and functional brain imaging in Friedreich’s ataxia. Arch Neurol 51:349–355

    CAS  PubMed  Google Scholar 

  14. Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ (2006) Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 66:1711–1716

    Article  CAS  PubMed  Google Scholar 

  15. Lynch DR, Farmer JM, Wilson RL, Balcer LJ (2005) Performance measures in Friedreich ataxia: potential utility as clinical outcome tools. Mov Disord 20:777–782

    Article  PubMed  Google Scholar 

  16. Lynch K, Bridle M (1989) Validity of the Jebsen–Taylor Hand Function Test in predicting activities of daily living. Occup Ther J Res 9:316–319

    Google Scholar 

  17. Mathiowetz V, Volland G, Kashman N, Weber K (1985) Adult norms for the Box and Block Test of manual dexterity. Am J Occup Ther 39:386–391

    CAS  PubMed  Google Scholar 

  18. Metcalf C, Adams J, Burridge J, Yule V, Chappell P (2007) A review of clinical upper limb assessments within the framework of the WHO ICF. Musculoskeletal Care 5:160–173

    Article  PubMed  Google Scholar 

  19. Oxford Grice K, Vogel KA, Le V, Mitchell A, Muniz S, Vollmer MA (2003) Adult norms for a commercially available nine hole peg test for finger dexterity. Am J Occup Ther 57:570–573

    PubMed  Google Scholar 

  20. Pandolfo M (2003) Friedreich ataxia. Semin Pediatr Neurol 10:163–172

    Article  PubMed  Google Scholar 

  21. Platz T, Pinkowski C, van Wijck F, Kim IH, di Bella P, Johnson G (2005) Reliability and validity of arm function assessment with standardized guidelines for the Fugl-Meyer Test, Action Research Arm Test and Box and Block Test: a multicentre study. Clin Rehabil 19:404–411

    Article  PubMed  Google Scholar 

  22. Rudman D, Hannah S (1998) An instrument evaluation framework: description and application to assessments of hand function. J Hand Ther 11:266–277

    CAS  PubMed  Google Scholar 

  23. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T (2005) Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 64:1261–1262

    CAS  PubMed  Google Scholar 

  24. Tsou AY, Friedman LS, Wilson RB, Lynch DR (2009) Pharmacotherapy for friedreich ataxia. CNS Drugs 23:213–223

    Article  CAS  PubMed  Google Scholar 

  25. Yancosek KE, Howell D (2009) A narrative review of dexterity assessments. J Hand Ther 22:258–270

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

The authors thank the participants for their involvement in this study and Susan Donath for statistical advice. Funding for the study was from the Friedreich Ataxia Research Association (Australasia) and the Friedreich Ataxia Research Alliance (USA). MBD is a National Health and Medical Research Council Practitioner Fellow.

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Authors and Affiliations

  1. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Rd, Parkville, VIC, 3052, Australia

    L. A. Corben, G. Tai, C. Wilson, V. Collins & M. B. Delatycki

  2. Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Flemington Road, Parkville, VIC, 3052, Australia

    M. B. Delatycki

  3. Monash Neurology, Monash Medical Centre, Clayton Road, Clayton, VIC, 3168, Australia

    A. J. Churchyard

  4. Experimental Neuropsychology Research Unit, School of Psychology, Psychiatry and Psychological Medicine, Monash University, Clayton, VIC, 3168, Australia

    L. A. Corben

Authors
  1. L. A. Corben
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  2. G. Tai
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  3. C. Wilson
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  4. V. Collins
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  5. A. J. Churchyard
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  6. M. B. Delatycki
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Corresponding author

Correspondence to M. B. Delatycki.

Additional information

L. A. Corben and G. Tai contributed equally to this work.

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Corben, L.A., Tai, G., Wilson, C. et al. A comparison of three measures of upper limb function in Friedreich ataxia. J Neurol 257, 518–523 (2010). https://doi.org/10.1007/s00415-009-5352-7

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  • DOI: https://doi.org/10.1007/s00415-009-5352-7

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