Journal Article

DZNE-2026-00668

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.

Iskandar, A. (First author)DZNE* ; Buchholz, M.DZNE* ; Sarwinska, D.DZNE* ; Borel, S. ; Durr, A. ; Atencio, M. ; Ewenczyk, C. ; Heinzmann, A. ; Weber, S. ; Hilab, R. ; Xie, F. ; Humphries, B. ; Klockgether, T.DZNE* ; Grobe-Einsler, M.DZNE* ; Maas, V.DZNE* ; Feldmann, K.DZNE* ; Rouillon, S. ; Nadke, A. ; Davies, E. H. ; Minnerop, M. ; Erdlenbruch, F. ; Bischoff, A. T.DZNE* ; Klopstock, T.DZNE* ; Fleszar, Z.DZNE* ; Boesch, S. ; Indelicato, E. ; Schulz, J. B. ; Reetz, K. ; Michalowsky, B. (Last author)DZNE*

2026
Springer US New York

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Please use a persistent id in citations: doi:10.1007/s12311-026-02038-7

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 (Mevents = 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(IRRassist = 2.044, p < 0.05; IRRnon-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.

Keyword(s): Humans (MeSH) ; Friedreich Ataxia: psychology (MeSH) ; Friedreich Ataxia: epidemiology (MeSH) ; Age of Onset (MeSH) ; Female (MeSH) ; Adolescent (MeSH) ; Male (MeSH) ; Adult (MeSH) ; Child (MeSH) ; Young Adult (MeSH) ; Surveys and Questionnaires (MeSH) ; Life Change Events (MeSH) ; Middle Aged (MeSH) ; Adolescence well being ; Ataxia ; Health status ; Life course perspective ; Movement disorders

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Contributing Institute(s):

1. Patient-Reported Outcomes and Health Economics Research (AG Michalowsky)
2. Translational Health Care Research (AG Hoffmann)
3. Patient Studies (Bonn) (Patient Studies (Bonn))
4. Clinical Research Coordination (Clinical Research (Bonn))
5. Clinical Research Platform (CRP) (Clinical Research Platform (CRP))
6. Clinical Research (Munich) (Clinical Research (Munich))

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; Clarivate Analytics Master Journal List ; DEAL Springer ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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