Hyvönen Hanna, Anttila Heidi, Tallqvist Susanna, Muñoz Minna, Leppäjoki-Tiistola Sanna, Teittinen Antti, Mäkitie Outi, Hiekkala Sinikka
University of Jyväskylä, Jyväskylä, Finland.
Finnish Institute for Health and Welfare; Welfare Department; Aging, Disability and Functioning Unit, Helsinki, Finland.
BMC Musculoskelet Disord. 2020 Dec 4;21(1):808. doi: 10.1186/s12891-020-03835-9.
Skeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without skeletal dysplasia.
Functioning was assessed by questionnaire, which was formed by operationalizing International Classification of Functioning, Disability and Health (ICF) core set's categories into the items according to the ICF linking rules, using primarily Patient Reported Outcomes Measurement Information System PROMIS® - items.
Altogether 80 subjects with skeletal dysplasia and 55 age-, gender- and place of residence -matched controls participated. People with skeletal dysplasia experienced more pain (p < 0.001) and the pain interfered more their daily lives (p = 0.037) compared to the controls. They had more problems related to musculoskeletal functions and exercise tolerance, difficulties in mobility, used more assistive products and technology and were more affected by climate and seasonal changes (p < 0.001). They met challenges in self-care, acquisition of goods and services and household tasks (p < 0.001) and in participating in close social relationships, leisure time activities (p < 0.001) and associations and organizational services (p = 0.007). They felt less satisfied with remunerative work (p = 0.003), felt more inequality (p = 0.008), met more negative attitudes of others (p < 0.001) and felt having less support given by family and friends (p = 0.022). They used more social and health services and experienced more dissatisfaction with those.
Our study indicates that skeletal dysplasias restrict functioning extensively and significantly affect daily living. By building accessible environment and improving equal services, functioning could be improved.
骨骼发育异常是罕见疾病，常导致严重身材矮小。本研究旨在获取有关骨骼发育异常患者与无骨骼发育异常的匹配对照者相比在功能和公平性方面的新的全面信息。
通过问卷调查评估功能，该问卷是根据《国际功能、残疾和健康分类》（ICF）链接规则，将ICF核心集的类别转化为项目而形成的，主要使用患者报告结局测量信息系统PROMIS®项目。
共有80名骨骼发育异常患者和55名年龄、性别及居住地点匹配的对照者参与。与对照组相比，骨骼发育异常患者经历更多疼痛（p < 0.001），且疼痛对其日常生活的干扰更大（p = 0.037）。他们在肌肉骨骼功能和运动耐量方面存在更多问题，行动困难，使用更多辅助产品和技术，且受气候和季节变化的影响更大（p < 0.001）。他们在自我护理、获取商品和服务以及家务任务方面面临挑战（p < 0.001），在参与亲密社会关系、休闲活动方面（p < 0.001）以及社团和组织服务方面（p = 0.007）也面临挑战。他们对有偿工作的满意度较低（p = 0.003），感到更多不平等（p = 0.008），遭遇他人更多负面态度（p < 0.001），且感觉从家人和朋友那里得到的支持较少（p = 0.022）。他们使用更多社会和健康服务，且对这些服务的不满程度更高。
我们的研究表明，骨骼发育异常广泛限制功能，并显著影响日常生活。通过建设无障碍环境和改善平等服务，可以改善功能。
