Understanding activity participation among individuals with Wolfram syndrome

Introduction: Wolfram syndrome is a rare genetic disease associated with a variety of progressive metabolic and neurologic impairments. Previous research has focused on Wolfram syndrome-related impairments and biomarkers for disease progression; however, information about how Wolfram syndrome impacts participation in daily activities is lacking. Method: Wolfram syndrome (n = 45; 20 children, 25 adults) participants completed an online questionnaire about activity participation. Thirty-six non-Wolfram syndrome comparison participants (11 children; 25 adults) completed a portion of the questionnaire. Symptom data from a subset of Wolfram syndrome participants (n = 20) were also examined in relation to participation data. Results: Wolfram syndrome children and adults had lower participation than non-Wolfram syndrome children and adults in almost all activity domains, and social and exercise-related activities were the most problematic. In the subset of Wolfram syndrome adults with symptom data, poorer vision, balance, gait, hearing, and overall symptom severity were related to lower participation. Conclusion: Wolfram syndrome appears to negatively impact participation in a variety of activities, and this effect may increase as people age and/or Wolfram syndrome progresses. The most functionally pertinent Wolfram syndrome 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 Wolfram syndrome and, thus, can inform current practice and treatment development research.