Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives

The Cerebellum, vol. 25

Abstract

Abstract Friedreich’s ataxia (FA) is a rare, autosomal recessive neurodegenerative disease that primarily affects children and adolescents in their transition to adulthood, which is associated with several adverse life events caused by the disease progression. This article aims to describe life events associated with FA and their impact on patient-reported outcomes in pediatric and adult onsets. A newly adapted Life Events Questionnaire was applied within the PROFA study. The questionnaire captured various disease-, relationship-, and work-related life events. The outcomes were stratified by pediatric and adult-onset groups at subcategory and item levels. Non-parametric tests, along with multivariate regressions with adjustments were employed. A total of 73 patients (44 pediatric-/29 adult-onset) completed the Life Events Questionnaire. Both pediatric and adult onset groups reported a similar number of life events (M events = 5.3), with disease-related events being the most prevalent. Item-level analyses revealed that adult-onset had a higher likelihood in identifying life events, including positive life events, compared to pediatric-onset group. Regression analyses revealedassociations between increased disability and increased adverse life events particularly relationship-related adverse life events(IRR assist = 2.044, p < 0.05; IRR non−ambulant = 2.589, p < 0.01), as well as moderating effect of age at onset specifically for non-ambulant patients (IRR = 0.061, p < 0.01). The pediatric onset group were more prone to relationship-related adverse life events, especially in non-ambulant stage. In contrast, with adult-onset may benefit from established social identity in which their partners play a supportive role. Psychosocial support should be offered preemptively at the start of diagnosis for example concurrently with genetic counseling. The findings suggests that disease management strategies should be tailored to different age groups.

Authors 29

1. Arif Iskandar corresponding

   German Center for Neurodegenerative Diseases

   Affiliation as printed

   German Center for Neurodegenerative Diseases, Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany. audrey.iskandar@dzne.de

2. Maresa Buchholz

   German Center for Neurodegenerative Diseases

   Affiliation as printed

   German Center for Neurodegenerative Diseases, Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany

3. Dorota Sarwinska

   German Center for Neurodegenerative Diseases

   Affiliation as printed

   German Center for Neurodegenerative Diseases, Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany

4. Stéphanie Borel

   Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

   Affiliation as printed

   Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

5. Alexandra Durr

   Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

   Affiliation as printed

   Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

6. Mariana Atencio

   Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

   Affiliation as printed

   Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

7. Claire Ewenczyk

   Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

   Affiliation as printed

   Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

8. Anna Heinzmann

   Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

   Affiliation as printed

   Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

9. Sacha Weber

   Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

   Affiliation as printed

   Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

10. Rania Hilab

    Centre National de la Recherche Scientifique · Sorbonne Université · Inserm · Assistance Publique – Hôpitaux de Paris · Institut des Sciences Moléculaires · Institut du Cerveau

    Affiliation as printed

    Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

11. Feng Xie

    McMaster University

    Affiliation as printed

    Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada

12. Brittany Humphries

    McMaster University

    Affiliation as printed

    Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada

13. Thomas Klockgether

    University of Bonn · University Hospital Bonn · German Center for Neurodegenerative Diseases

    Affiliation as printed

    Center for Neurology, Department of Parkinson Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany

    German Center for Neurodegenerative Diseases, Bonn, Germany

14. Marcus Grobe‐Einsler

    University of Bonn · University Hospital Bonn · German Center for Neurodegenerative Diseases · Düsseldorf University Hospital · Heinrich Heine University Düsseldorf

    Affiliation as printed

    Center for Neurology, Department of Parkinson Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany

    Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich-Heine University, University Hospital Düsseldorf, Düsseldorf, Germany

    German Center for Neurodegenerative Diseases, Bonn, Germany

15. Vivian Maas

    German Center for Neurodegenerative Diseases

    Affiliation as printed

    German Center for Neurodegenerative Diseases, Bonn, Germany

16. Katrin Feldmann

    German Center for Neurodegenerative Diseases

    Affiliation as printed

    German Center for Neurodegenerative Diseases, Bonn, Germany

17. Stéphan Rouillon
    Affiliation as printed

    Association Française de l'Ataxie de Friedreich, Saint Avé, France

18. Andreas Nadke
    Affiliation as printed

    Deutsche Heredo-Ataxie-Gesellschaft, Stuttgart, Germany

19. Elin Haf Davies

    Aparito Limited (United Kingdom)

    Affiliation as printed

    Aparito, a wholly owned subisidiary of Eli Lilly and Company, Ty Dewi Sant, Rhosddu Road, Wrexham, Wales , LL11 1NF, UK

20. Martina Minnerop

    Forschungszentrum Jülich · Düsseldorf University Hospital · Heinrich Heine University Düsseldorf

    Affiliation as printed

    Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich-Heine University, University Hospital Düsseldorf, Düsseldorf, Germany

    Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine-University, University Hospital Düsseldorf, Düsseldorf, Germany

    Research Centre Jülich, Institute of Neuroscience and Medicine (INM-1), Jülich, Germany

21. Friedrich Erdlenbruch

    Essen University Hospital · University of Duisburg-Essen

    Affiliation as printed

    Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany

22. Almut T. Bischoff

    Ludwig-Maximilians-Universität München · German Center for Neurodegenerative Diseases

    Affiliation as printed

    Department of Neurology, Ludwig-Maximilians-Universität (LMU), Friedrich-Baur-Institute, Munich, Germany

    German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

23. Thomas Klopstock

    Ludwig-Maximilians-Universität München · German Center for Neurodegenerative Diseases · Munich Cluster for Systems Neurology

    Affiliation as printed

    Department of Neurology, Ludwig-Maximilians-Universität (LMU), Friedrich-Baur-Institute, Munich, Germany

    German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

    Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

24. Zofia Fleszar

    University of Tübingen · Hertie Institute for Clinical Brain Research

    Affiliation as printed

    Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany

25. Sylvia Boesch

    Innsbruck Medical University · Universität Innsbruck

    Affiliation as printed

    Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria

26. Elisabetta Indelicato

    Innsbruck Medical University · Universität Innsbruck

    Affiliation as printed

    Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria

27. Jörg B. Schulz Aachen Department of Neurology

    RWTH Aachen University

    Affiliation as printed

    Department of Neurology, RWTH Aachen University, Aachen, Germany

28. Kathrin Reetz Aachen Department of Neurology

    RWTH Aachen University

    Affiliation as printed

    Department of Neurology, RWTH Aachen University, Aachen, Germany

29. Bernhard Michalowsky

    German Center for Neurodegenerative Diseases · McMaster University

    Affiliation as printed

    Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada

    German Center for Neurodegenerative Diseases, Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany