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Understanding activity participation among individuals with Wolfram Syndrome

BUMPUS E; HERSHEY T; DOTY T; RANCK S; GRONSKI M; URANO F; FOSTER ER
BR J OCCUP THER , 2018, vol. 81, n° 6, p. 348-357
Doc n°: 187298
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.1177/0308022618757182
Descripteurs : KB3 - ACTIVITES DE LA VIE QUOTIDIENNE

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.
- Maladie génétique

Langue : ANGLAIS

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