Article

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. METHODS: 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.
RESULTS: 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. CONCLUSION: 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.

Langue : ANGLAIS