Skip to main content
SpringerLink
Log in

The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale

  • RESEARCH
  • Published:
The Cerebellum Aims and scope Submit manuscript

Abstract

Autosomal recessive cerebellar ataxias (ARCAs) are inherited neurological disorders that can affect both the central and peripheral nervous systems. To assess the effects of interventions according to the perception of people affected, patient-reported outcome measures (PROMs) must be available. This paper presents the development process of the Person-Reported Ataxia Impact Scale (PRAIS), a new PROM in recessive ataxias, and the documentation of its content validity, interpretability, and construct validity (structural and discriminant). The development followed the PROMIS framework and the Food and Drug Administration guidelines. A mixed-method study design was used to develop the PROM. A systematic review of the literature, semistructured interviews, and discussion groups was conducted to constitute an item pool. Experts’ consultation helped formulate items, and the questionnaire was sent online to be completed by people affected. Statistical analyses were performed to assess the structural and discriminant validity. A total of 125 people affected by recessive ataxia completed the questionnaire. The factor analysis confirmed the three components: physical functions and activities, mental functions, and social functions. The statistical analysis showed that it can discriminate between stages of mobility and level of autonomy. It showed very good levels of internal consistency (0.79 to 0.89). The Person-Reported Ataxia Impact Scale (PRAIS) is a 38-item questionnaire that assesses the manifestations and impacts of the disease according to the perception of people affected by recessive ataxia. It can be used in clinical and research settings.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

Data Availability

Please contact author for data requests.

Abbreviations

ARCA:

Autosomal recessive cerebellar ataxia

ARSACS:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

SCAR8:

Autosomal recessive spinocerebellar ataxia type 8

AOA2:

Ataxia with oculomotor apraxia type 2

CIUSSS-SLSJ :

Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean

COA:

Clinical outcome assessment

CFA:

Confirmatory factor analysis

COSMIN:

COnsensus-based Standards for the selection of health Measurement Instrument

EFA:

Exploratory factor analysis

FIRST:

Facilitate, Identify, Respect, Support, Train

FDA:

Food and Drug Administration

FA:

Friedreich ataxia

MCID:

Minimal clinically important difference

PROM:

Patient-reported outcome measure

PROMIS:

Patient-Reported Outcomes Measurement Information System

PRAIS:

Person-Reported Ataxia Impact Scale

SEM:

Structural equation modeling

References

  1. Palau F, Espinós C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis. 2006;1:47–47.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Synofzik M, Németh AH. Recessive ataxias. Handb Clin Neurol. 2018;155:73–89.

    Article  PubMed  Google Scholar 

  3. Manto M, Marmolino D. Cerebellar ataxias. Curr Opin Neurol. 2009;22(4):419–29.

    Article  PubMed  Google Scholar 

  4. Synofzik M, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013;8:41.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Kwei KT, Kuo SH. An overview of the current state and the future of ataxia treatments. Neurol Clin. 2020;38(2):449–67.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Food and Drug Administration. Roadmap to patient-focused outcome measurement in clinical trials. Silver Spring: Department of Health and Human Services, Food and Drug Administration; 2013.

    Google Scholar 

  7. Food and Drug Administration. Principles for selecting, developing, modifying, and adapting patient-reported outcome instruments for use in medical device evaluation. Guidance for Industry and Food and Drug Administration Staff, and Other Stakeholders. Rockville: Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research; 2022. p. 16.

    Google Scholar 

  8. Food and Drug Administration. Guidance for industry: patient-reported outcome measures: use in medical product development to support labeling claims. Rockville: Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research; 2009. p. 39.

    Google Scholar 

  9. Acquadro C, et al. Incorporating the patient’s perspective into drug development and communication: an ad hoc task force report of the Patient-Reported Outcomes (PRO) Harmonization Group meeting at the Food and Drug Administration, February 16, 2001. Value Health. 2003;6(5):522–31.

    Article  PubMed  Google Scholar 

  10. Mayo NE, et al. Montreal Accord on Patient-Reported Outcomes (PROs) use series - Paper 2: terminology proposed to measure what matters in health. J Clin Epidemiol. 2017;89:119–24.

    Article  PubMed  Google Scholar 

  11. Portney LG, Watkins MP. Foundations of clinical research: applications to practice. New Jersey: Pearson/Prentice Hall; 2009.

    Google Scholar 

  12. Jacobi H, et al. Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. J Neurol. 2018;265(9):2040–51.

    Article  PubMed  Google Scholar 

  13. Schmahmann JD, et al. Development and validation of a patient‐reported outcome measure of ataxia. Mov Disord. 2021;36(10):2367–77.

  14. Cano SJ, et al. Friedreich’s ataxia impact scale: a new measure striving to provide the flexibility required by today’s studies. Mov Disord. 2009;24(7):984–92.

    Article  PubMed  Google Scholar 

  15. Stucki G, Sigl T. Assessment of the impact of disease on the individual. Best Pract Res Clin Rheumatol. 2003;17(3):451–73.

    Article  PubMed  Google Scholar 

  16. Creswell JW, Plano VL. Clark, Choosing a mixed methods design. In: Designing and conducting mixed methods research. 2nd ed. SAGE Publications: Los Angeles; 2011. p. 58–88.

    Google Scholar 

  17. Patrick DL, et al. Content validity–establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO good research practices task force report: part 1–eliciting concepts for a new PRO instrument. Value Health. 2011;14(8):967–77.

    Article  PubMed  Google Scholar 

  18. Wiering B, de Boer D, Delnoij D. Patient involvement in the development of patient-reported outcome measures: a scoping review. Health Expect. 2017;20(1):11–23.

    Article  PubMed  Google Scholar 

  19. de Wit MP, et al. European League Against Rheumatism recommendations for the inclusion of patient representatives in scientific projects. Ann Rheum Dis. 2011;70(5):722–6.

    Article  PubMed  Google Scholar 

  20. de Wit MP, et al. Do not forget the professional–the value of the FIRST model for guiding the structural involvement of patients in rheumatology research. Health Expect. 2015;18(4):489–503.

    Article  MathSciNet  PubMed  Google Scholar 

  21. Hewlett S, et al. Patients and professionals as research partners: challenges, practicalities, and benefits. Arthritis Rheum. 2006;55(4):676–80.

    Article  PubMed  Google Scholar 

  22. National Institutes of Health. Patient-Reported Outcomes Measurement Information System (PROMIS) Mid-Course Review Report. 2007; 35. Available from: https://dpcpsi.nih.gov/sites/default/files/opep/document/Final_Report_(07-1014-R_NIAMS)_2007.pdf. Accessed 19 Apr 2018.

  23. Tremblay M, et al. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome. Orphanet J Rare Dis. 2022;17(1):369.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Paillé P, Mucchielli A. L’analyse qualitative en sciences humaines et sociales. 2nd ed. Paris: Armand Colin; 2008.

    Google Scholar 

  25. Kerr C, Nixon A, Wild D. Assessing and demonstrating data saturation in qualitative inquiry supporting patient-reported outcomes research. Expert Rev Pharmacoecon Outcomes Res. 2010;10(3):269–81.

    Article  PubMed  Google Scholar 

  26. Rothman M, et al. Use of existing patient-reported outcome (PRO) instruments and their modification: the ISPOR good research practices for evaluating and documenting content validity for the use of existing instruments and their modification PRO Task Force Report. Value in Health. 2009;12(8):1075–83.

    Article  PubMed  Google Scholar 

  27. Halcomb EJ, Davidson PM. Is verbatim transcription of interview data always necessary? Appl Nurs Res. 2006;19(1):38–42.

    Article  PubMed  Google Scholar 

  28. Cappelleri JC, Zou KH, Bushmakin AG, Alvir JMJ, Alemayehu D, Symonds T. Patient-Reported Outcomes: Measurement, Implementation and Interpretation (1st ed.). Chapman and Hall/CRC; 2014. https://doi.org/10.1201/b16139

  29. Wild D, et al. Principles of good practice for the translation and cultural adaptation process for patient-reported outcomes (PRO) measures: report of the ISPOR Task Force for Translation and Cultural Adaptation. Value Health. 2005;8(2):94–104.

    Article  PubMed  Google Scholar 

  30. Murphy M, Hollinghurst S, Salisbury C. Agreeing the content of a patient-reported outcome measure for primary care: a Delphi consensus study. Health Expect. 2017;20(2):335–48.

    Article  PubMed  Google Scholar 

  31. Dillman DA, Smyth JD, Christian LM. Internet, phone, mail, and mixed-mode surveys: the tailored design method. Hoboken, NJ: Wiley; 2014.

    Book  Google Scholar 

  32. Willis GB. Cognitive interviewing - a tool for improving questionnaire design. Thousand Oaks: Sage; 2005.

    Book  Google Scholar 

  33. Mokkink LB, et al. The COSMIN study reached international consensus on taxonomy, terminology, and definitions of measurement properties for health-related patient-reported outcomes. J Clin Epidemiol. 2010;63(7):737–45.

    Article  PubMed  Google Scholar 

  34. Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation. Int J Rehabil Res. 2004;27(3):253–6.

    Article  PubMed  Google Scholar 

  35. Gagnon C, et al. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Orphanet J Rare Dis. 2018;13(1):165.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Lessard I, et al. Assessing mobility and balance in autosomal recessive spastic ataxia of Charlevoix-Saguenay population: validity and reliability of four outcome measures. J Neurol Sci. 2018;390:4–9.

    Article  PubMed  Google Scholar 

  37. Lessard I, et al. Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay. Orphanet J Rare Dis. 2021;16(1):432.

    Article  PubMed  PubMed Central  Google Scholar 

  38. Gagnon C, et al. An exploratory natural history of ataxia of Charlevoix-Saguenay: a 2-year follow-up. Neurology. 2018;91(14):e1307–11.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Guest G, Bunce A, Johnson L. How many interviews are enough? An experiment with data saturation and variability. Field Methods. 2006;18(1):59–82.

    Article  Google Scholar 

  40. Boateng GO, et al. Best practices for developing and validating scales for health, social, and behavioral research: a primer. Front Public Health. 2018;6:149.

    Article  PubMed  PubMed Central  Google Scholar 

  41. de Vet, H. C. W., Terwee, C. B., Mokkink, L. B., & Knol, D. L. Measurement in medicine: a practical guide. Cambridge, UK: Cambridge University Press; 2011.

    Book  Google Scholar 

  42. Everitt BS, Skrondal A. The Cambridge dictionary of statistics. Cambridge, UK: Cambridge University Press; 2010.

    Book  Google Scholar 

  43. Forsythe L, et al. Methods and impact of engagement in research, from theory to practice and back again: early findings from the Patient-Centered Outcomes Research Institute. Qual Life Res. 2017;27(1):17–31.

  44. Carman KL, et al. Patient and family engagement: a framework for understanding the elements and developing interventions and policies. Health Aff (Millwood). 2013;32(2):223–31.

    Article  PubMed  Google Scholar 

  45. Domecq JP, et al. Patient engagement in research: a systematic review. BMC Health Serv Res. 2014;14:89.

    Article  PubMed  PubMed Central  Google Scholar 

  46. Streiner DL. Starting at the beginning: an introduction to coefficient alpha and internal consistency. J Pers Assess. 2003;80(1):99–103.

    Article  PubMed  Google Scholar 

  47. Forgue G, Bouchard J, Gallais B. Description des traits de personnalité et de l'adaptation sociale chez des personnes atteintes d'ataxie récessive spastique de Charlevoix-Saguenay. Université du Québec à Chicoutimi; 2019. Retrieved from https://constellation.uqac.ca/5178/1/Forgues_uqac_0862D_10571.pdf

    Google Scholar 

  48. Lincoln YS, Guba EG. Naturalistic inquiry. USA: Sage Publications; 1985.

    Book  Google Scholar 

  49. Beaudin M, et al. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum. 2019;18(6):1098–125.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Synofzik M, Schüle R. Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. Mov Disord. 2017;32(3):332–45.

    Article  PubMed  PubMed Central  Google Scholar 

  51. de Winter JCF, Dodou D, Wieringa PA. Exploratory factor analysis with small sample sizes. Multivar Behav Res. 2009;44(2):147–81.

    Article  Google Scholar 

Download references

Acknowledgements

The authors would like to thank all the participants in this study as well as the team of patients as partners. They also want to thank Isabelle Côté and Isabelle Lessard for their precious help and availability.

Funding

This work was supported by the CIHR Emerging team (Myotonic Dystrophy Canada and Ataxia of Charlevoix-Saguenay Foundation; to C.G., B.B.) # TR2–119189, and the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) # 441409627, as part of the PROSPAX consortium under the frame of EJP RD, the European Joint Programme on Rare Diseases, under the EJP RD COFUND-EJP # 825575 (to B.B, and C.G). It was also supported by the Corporation de recherche et d'action sur les maladies héréditaires (CORAMH) and Groupe de recherche interdisciplinaire sur les maladies neuromusculaires and Fonds de recherche du Québec – Santé (MT). CG holds a career salary award (Senior Fonds de recherche du Québec – Santé #31011), PREPARE. The funding sources are not involved in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the article for publication.

Author information

Authors and Affiliations

  1. Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires, 2230 de L’Hôpital Cp 1200, Jonquière, QC, G7X 7X2, Canada

    Marjolaine Tremblay, Véronique Asselin, Martin Buffet, André Girard, Denis Girard & Cynthia Gagnon

  2. Université de Sherbrooke, 2500 Bd de l’Université, Sherbrooke, QC, J1K 2R1, Canada

    Marjolaine Tremblay, Djamal Berbiche & Cynthia Gagnon

  3. McGill University, 845 Rue Sherbrooke O, Montréal, QC, H3A 0G4, Canada

    Bernard Brais

  4. Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada

    Bernard Brais

  5. Centre de Recherche Charles-Lemoyne, 150, Place Charles-Le Moyne Bureau 200, Longueuil, QC, J4K 0A8, Canada

    Djamal Berbiche

  6. Centre de Recherche du Centre Hospitalier Universitaire de Sherbrooke, 3001, 12e Avenue Nord, Aile 9, Porte 6, Sherbrooke, Québec, J1H 5N4, Canada

    Cynthia Gagnon

Authors
  1. Marjolaine Tremblay
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bernard Brais
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Véronique Asselin
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Martin Buffet
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. André Girard
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Denis Girard
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Djamal Berbiche
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Cynthia Gagnon
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All the authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Marjolaine Tremblay, Véronique Asselin, Martin Buffet, André Girard, and Denis Girard. The first draft of the manuscript was written by Marjolaine Tremblay, and all the authors commented on previous versions of the manuscript. All the authors read and approved the final manuscript.

Corresponding author

Correspondence to Marjolaine Tremblay.

Ethics declarations

Ethics Approval

This project was approved by the Comité d’éthique de la recherche du Centre intégré université en santé et services sociaux (CIUSSS) du Saguenay-Lac-Saint-Jean (reference number 2018–052). Informed consent to participate and to publish was obtained from each participant.

Competing Interests

The authors declare no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Denis Girard passed away during the preparation of this study.

Supplementary Information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tremblay, M., Brais, B., Asselin, V. et al. The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale. Cerebellum 23, 512–522 (2024). https://doi.org/10.1007/s12311-023-01565-x

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12311-023-01565-x

Keywords

Search

Navigation