Orton Rehabilitation Centre, Orton Orthopaedic Hospital, Helsinki, Finland.
J Rehabil Med. 2013 Mar;45(3):308-13. doi: 10.2340/16501977-1116.
The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented.
The study sample comprised 115 patients with diastrophic dysplasia, aged over 18 years. The patients were contacted, and 68 patients (59%) agreed to participate in the study. They answered a structured questionnaire, which included the items of RAND-36 and Finn-Health Assessment Questionnaire (Finn-HAQ) questionnaires. The Finn-HAQ items were linked to the categories of the International Classification of Functioning, Disability and Health (ICF). Population controls for matching the participating patients for age and sex were identified in the Finnish population registry. Demographic and social factors (educational status, employment status and household income) were collected in separated questions.
RAND-36 showed significantly lower physical functioning in the group of diastrophic dysplasia patients than in the control group. Also, the differences in scores for energy and social functioning were significant. In the mental component scales, no significant difference was found between the groups. When compared with the controls, we found significantly lower levels in all 3 ICF components of functioning in the group of patients when Finn-MDHAQ items linked to ICF were used. Almost 75% of patients with diastrophic dysplasia belonged to the group of people with minor/low income. Some or clear worsening of economic situation due to diastrophic dysplasia was reported by 25 (58%) female and 17 (68%) male patients.
In their daily living, patients with diastrophic dysplasia have marked physical difficulties, which affect their quality of life, participation in society and their financial situation. It seems that the mental situation is not greatly affected, but a more detailed study is needed to evaluate and illuminate the psychological consequences of this severe skeletal dysplasia. Overall, the pieces of information in the present study are of high importance when designing and reorganizing rehabilitation and in supportive therapy and treatment of patients with diastrophic dysplasia.
本研究的目的是获得比以前更具代表性的成骨不全症患者样本的生活质量和社会经济状况的全面视图。
研究样本包括 115 名年龄在 18 岁以上的成骨不全症患者。联系了这些患者，其中 68 名患者（59%）同意参加研究。他们回答了一份结构化问卷，其中包括 RAND-36 和芬兰健康评估问卷（Finn-HAQ）的项目。Finn-HAQ 的项目与国际功能、残疾和健康分类（ICF）的类别相关联。在芬兰人口登记册中为与参与患者匹配年龄和性别确定了人口对照。在单独的问题中收集了人口统计学和社会因素（教育程度、就业状况和家庭收入）。
RAND-36 显示成骨不全症患者组的身体机能明显低于对照组。此外，在能量和社会功能方面的评分差异也具有统计学意义。在心理成分量表中，两组之间没有发现显著差异。当使用与 ICF 相关联的 Finn-MDHAQ 项目时，与对照组相比，我们发现患者组在 ICF 功能的所有 3 个成分中得分明显较低。几乎 75%的成骨不全症患者属于收入较低的人群。25 名（58%）女性和 17 名（68%）男性患者报告由于成骨不全症而导致经济状况出现某种或明显恶化。
在日常生活中，成骨不全症患者存在明显的身体困难，这影响了他们的生活质量、社会参与度和经济状况。似乎心理健康状况没有受到很大影响，但需要进行更详细的研究来评估和阐明这种严重骨骼发育不良的心理后果。总的来说，本研究提供的信息对于设计和重组康复以及支持性治疗和治疗成骨不全症患者具有重要意义。
