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. 2018 Jun;81(6):348-357.
doi: 10.1177/0308022618757182. Epub 2018 Apr 13.

Understanding activity participation among individuals with Wolfram Syndrome

Emily Bumpus  1 , Tamara Hershey  2 , Tasha Doty  3 , Samantha Ranck  4 , Meredith Gronski  5 , Fumihko Urano  6 , Erin R Foster  7
Affiliations

Understanding activity participation among individuals with Wolfram Syndrome

Emily Bumpus et al. Br J Occup Ther. 2018 Jun.

Abstract

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.

Keywords: Wolfram Syndrome; function; neurodegeneration; occupational therapy; participation.

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Conflict of interest statement

Declaration of conflicting interest: The Authors declare that there is no conflict of interest.

Figures

Figure 1
Figure 1
Average Symptom Impact scores (higher scores indicate greater impact) for each age group. Sample sizes vary across symptoms and age groups because these scores are calculated only for participants who endorse the symptom. *^ Higher than Hearing loss and Bowel & Bladder problems, p < 0.05 ^ Higher than Diabetes Mellitus, p < 0.05
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References

    1. AOTA. The role of occupational therapy in primary care. American Journal of Occupational Therapy. 2014;68(Suppl 3):S25–33. - PubMed
    1. ASHA. Guidelines for manual pure-tone threshold audiometry. ASHA. 1978;20:297–301. - PubMed
    1. Barrett TG, Bundey SE, Fielder AR, et al. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye. 1997;11(Pt 6):882–888. - PubMed
    1. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346(8988):1458–1463. - PubMed
    1. Berg C. The Adolescent and Young Adult Activity Card Sort, Version 2.0. St. Louis, MO: 2014. - PubMed

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