System Maintenance Notice

Please note that maintenance work is scheduled between 4 AM and 5 AM - CET. During this time, you may experience reduced performance. Thanks for your patience.

Publications

Journal Article Epublish

PubMed: 42334716 DOI: 10.1007/s12311-026-02038-7

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

Cerebellum 25(4)

Authors: Audrey Iskandar, Maresa Buchholz, Dorota Sarwinska, Stéphanie Borel, Alexandra Durr, Mariana Atencio, Claire Ewenczyk, Anna Heinzmann, Sacha Weber, Rania Hilab, Feng Xie, Brittany Humphries, Thomas Klockgether, Marcus Grobe-Einsler, Vivian Maas, Katrin Feldmann, Stéphan Rouillon, Andreas Nadke, Elin Haf Davies, Martina Minnerop, Friedrich Erdlenbruch, Almut T Bischoff, Thomas Klopstock, Zofia Fleszar, Sylvia Boesch, Elisabetta Indelicato, Jörg B Schulz, Kathrin Reetz, Bernhard Michalowsky

Affiliations

  • German Center for Neurodegenerative Diseases, Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany.
  • German Center for Neurodegenerative Diseases, Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany.
  • Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, ON, Canada.
  • German Center for Neurodegenerative Diseases, Bonn, Germany.
  • 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.
  • Association Française de l'Ataxie de Friedreich, Saint Avé, France.
  • Deutsche Heredo-Ataxie-Gesellschaft, Stuttgart, Germany.
  • Aparito, a wholly owned subisidiary of Eli Lilly and Company, Ty Dewi Sant, Rhosddu Road, Wrexham, Wales , LL11 1NF, UK.
  • 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.
  • Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • 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.
  • Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
  • Department of Neurology, Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria.
  • Department of Neurology, RWTH Aachen University, Aachen, Germany.

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.

MeSH

Friedreich Ataxia, Cerebellum, Ataxia, Age Of Onset