Abstract
BACKGROUND: Most rare diseases are chronic conditions with variable impairment of functionality, which can result in a need for rehabilitation. To our knowledge, there are no systematic studies on the rehabilitation needs of patients in centres for rare diseases in the literature. Our hypothesis is that participation of these patients is so limited that there is an increased need for rehabilitation. For this reason, a survey on the need for rehabilitation was carried out in all patients presenting to the centre for rare diseases, in order to assess the need for rehabilitative measures to counteract disturbances in activity and participation. METHODS: A cross-sectional study was performed to collect data using a written questionnaire from December 2020 to June 2021, including patients presenting personally in the center for rare diseases. RESULTS: Nearly 70% of the participants assessed their own ability to work as critical. Of those surveyed, n = 30 (44.9%) had PDI total ≥ 33 points and, thus, a clear pain-related impairment. CONCLUSION: The results show functional restrictions in the areas of mental well-being and activity. As expected, the health-related quality of life is reduced as compared to healthy people. Almost half of the participants reported significant pain-related impairments, however, only 9% of all respondents stated that they had received appropriate pain therapy. The results show the need for rehabilitation-specific skills in the care and counseling of patients with rare diseases.