Understanding Activity Participation Among Individuals With Wolfram Syndrome

PURPOSE: This study examined activity participation among individuals with Wolfram syndrome (WFS) and the impact of WFS-related symptoms on participation. WFS is a rare progressive genetic disease associated with a variety of metabolic and neurological impairments. Research has focused on WFS-related impairments and biomarkers for disease progression; however, formal investigations into how WFS affects participation are virtually absent. To address this limitation, we developed an activity participation questionnaire for people with WFS.

METHOD: In this cross-sectional, observational study, we used a web-based survey questionnaire electronically administered via the WFS international registry to assess aspects of activity participation. Impairment-level data from registry participants who also attended in-person testing were obtained and analyzed in conjunction with questionnaire data. Non-WFS comparison participants completed an abbreviated version of the questionnaire and in-person testing.

A total of 45 WFS registry participants completed the questionnaire, which had four parts: (1) current and past use of occupational therapy services; (2) modified Canadian Occupational Performance Measure (COPM), including the five most difficult activities rated on 10-point scales for importance, performance, and satisfaction; (3) extent to which WFS symptoms limited participation in occupational domains; and (4) modified Children’s Assessment of Participation and Enjoyment (CAPE).

RESULTS: Only 10 of the 45 WFS participants reported ever using occupational therapy services. Using the modified COPM, participants identified 144 most difficult activities, the majority of which involved self-care (34.7%) and leisure (28.5%). Importance scores were high (M = 8.1, SD = 2.3), whereas Performance (M = 4.3, SD = 2.1) and Satisfaction scores (M = 4.1, SD = 2.4) were low. Balance and walking problems were more prevalent in adults than children with WFS (χ² = 11.5, p = .001), and vision loss and balance and walking problems had the highest impact on participation in adults. WFS participants had lower activity participation than comparison participants (p ≤ .04). In adult WFS participants, balance, gait, hearing loss, and overall symptom severity correlated with participation (rs ≥ .76, p ≤ .04), such that higher symptom severity related to lower participation.

CONCLUSION: WFS negatively affects participation in a variety of activities, and this effect may increase as people age and WFS progresses. This study suggests that the most functionally pertinent WFS symptoms are those associated with neurodegeneration, such as vision loss and walking and balance problems. In addition to directly informing current clinical care, these results can inform future basic and clinical research with people with WFS regarding impairments that are most relevant for activity participation and thus should be the focus of treatment development.

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