Objective: To identify and quantify the age-contingent impact of Friedreich’s Ataxia.

Background: Friedreich’s ataxia (FA) is a rare, inherited multisystem neurodegenerative disorder that primarily affects children and adolescents in their transition to adulthood, which is associated with several adverse life events caused by the disease progression. Life events are significant occurrences that cause substantial change and require readjustment.

Method: A newly adapted Life Events Questionnaire was applied within the PROFA study, a multinational observational study combining in-person and app-based assessments. The questionnaire captured various disease-, relationship‑, and life’s work-related life events. The differences in the prevalence of adverse life events between pediatric (<18y) and adult onsets ( ≥18y) as well as the associated factors were demonstrated using descriptive statistics and a multivariate regression model. Additionally, marginal probability was estimated on item-level between the onset groups to demonstrate specific impact.

Results: A total of 60.3% of patients (n = 44) had a pediatric onset and were younger than the adult onset (n = 29). Both pediatric and adult onset groups reported a similar number of life events (M_events = 5.3), with disease-related events being most prevalent. The average number of events decreased in the adult onset group while it increased for pediatric onset group across FA disability stages. The regression analysis demonstrated the association between increased disability and increased 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). Holding the disability stage at the group mean, the predicted probability of identifying a life event was generally lower for the pediatric-onset group than for the adult-onset group.

Conclusion: Pediatric-onset patients experienced a surge in relationship-related life events alongside advancing disability—particularly in non-ambulant stages—despite a lower overall probability of reporting life events. This identifies a unique ‘lag effect’ specific to pediatric-onset FA, where psychosocial impact is deferred until physical milestones are lost. Consequently, disease management should be tailored to life-stage-specific societal milestones and evolving disability levels.

Estimated marginal probability of each life event

The dispersion of total life events

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MDS Abstracts - https://www.mdsabstracts.org/abstract/transitional-life-events-in-friedreich-ataxia-differential-age-at-onset-perspectives/