Bumpus Emily, Hershey Tamara, Doty Tasha, Ranck Samantha, Gronski Meredith, Urano Fumihko, Foster Erin R
Occupational Therapy Doctoral Student, Program in Occupational Therapy at Washington University School of Medicine, USA.
Associate Professor, Departments of Neurology, Psychiatry, and Radiology at Washington University School of Medicine, USA.
Br J Occup Ther. 2018 Jun;81(6):348-357. doi: 10.1177/0308022618757182. Epub 2018 Apr 13.
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.
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.
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.
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.
沃尔弗勒姆综合征（WFS）是一种罕见的遗传疾病，与多种进行性代谢和神经功能障碍相关。以往的研究主要集中在与WFS相关的功能障碍和疾病进展的生物标志物上；然而，关于WFS如何影响日常活动参与度的信息却很缺乏。
WFS参与者（n = 45；20名儿童，25名成人）完成了一份关于活动参与度的在线问卷。36名非WFS对照参与者（11名儿童；25名成人）完成了问卷的一部分。还对一部分WFS参与者（n = 20）的症状数据与参与度数据进行了关联分析。
WFS儿童和成人在几乎所有活动领域的参与度均低于非WFS儿童和成人，社交和与运动相关的活动问题最为突出。在有症状数据的WFS成人亚组中，视力、平衡、步态、听力较差以及总体症状严重程度与参与度较低相关。
WFS似乎对各种活动的参与度产生负面影响，并且随着年龄增长和/或WFS病情进展，这种影响可能会增加。与神经退行性变相关的WFS症状，尤其是视力丧失以及行走和平衡问题，对功能影响最大。本研究揭示了与WFS患者最相关的症状和活动领域，从而可为当前的临床实践和治疗开发研究提供参考。
