Understanding activity participation among individuals with Wolfram Syndrome.

Introduction: Wolfram Syndrome (WFS) is a rare genetic disease associated with a variety of progressive metabolic and neurologic impairments. Previous research has focused on WFS-related impairments and biomarkers for disease progression; however, information about how WFS impacts participation in daily activities is lacking.

Methods: WFS (n=45; 20 children, 25 adults) participants completed an online questionnaire about activity participation. Thirty-six non-WFS comparison participants (11 children; 25 adults) completed a portion of the questionnaire. Symptom data from a subset of WFS participants (n=20) were also examined in relation to participation data.

Results: WFS children and adults had lower participation than non-WFS children and adults in almost all activity domains, and social and exercise-related activities were the most problematic. In the subset of WFS adults with symptom data, poorer vision, balance, gait, hearing, and overall symptom severity related to lower participation.

Conclusions: WFS appears to negatively impact participation in a variety of activities, and this effect may increase as people age and/or WFS progresses. The most functionally-pertinent WFS symptoms are those associated with neurodegeneration especially vision loss and walking and balance problems. This study revealed symptoms and activity domains that are most relevant for people with WFS and, thus, can inform current practice and treatment development research.