Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility

Abstract

Background Little is known about the spectrum of everyday challenges that people with skeletal dysplasia face because of their health and functioning. We aimed to identify factors related to health, functioning and disability in people with skeletal dysplasia, and their challenges with accessibility in order to form a self-reported questionnaire for national data collection. The comprehensive musculoskeletal post-acute core set of the International Classification of Functioning, Disability and Health (ICF) was used as a framework. Methods An iterative, participatory and qualitative process was used to formulate a questionnaire. Items were searched from Patient-Reported Outcomes Measurement Information System and from other self-report instruments, additional items were formulated using ICF linking rules. Expert panels from the target population assessed the face and content validity in thematic interviews. Results The questionnaire demonstrated its relevance, comprehensiveness and feasibility for people with skeletal dysplasia. The ICF linkages showed the contents’ correspondence to the construct. Expert panels added 15 categories and one on chapter level to the core set and confirmed content validity. The final survey covers 86 ICF categories and 173 ICF-linked items that were grouped to 33 questions. Conclusions The content of the questionnaire proved to be sufficiently valid for people with skeletal dysplasia. It can be used to explore their health, functioning, disability and accessibility to develop care and rehabilitation policies, to plan services and to provide information to various parties involved.

Histological features of articular cartilage and bone marrow reparative potential under conditions of coxarthritis in patients with radiographic signs of epiphyseal dysplasia

“…One of the consequences of genetically determined anomalies of type II collagen synthesis, which include numerous congenital anomalies of the development of epiphyses under the general term «epiphyseal dysplasias» (ED) [1][2][3][4], is the development of early osteoarthritis, accompanied by a corresponding decrease in the quality of life and an increase in the need in medical and social assistance [2,[5][6][7][8][9][10]. According to published information [1,3,4,[10][11][12], 5-29 % of the population have phenotypic signs of various types of collagenopathies with clinically expressed lesions of the musculoskeletal system, and osteoarthritis is steadily progressing on their basis.…”

“…According to published information [1,3,4,[10][11][12], 5-29 % of the population have phenotypic signs of various types of collagenopathies with clinically expressed lesions of the musculoskeletal system, and osteoarthritis is steadily progressing on their basis. There is currently no etiological therapy for this impairment, which reduces the treatment of patients to slowing down the progression of osteoarthritis through symptomatic therapy with the timely application of radical treatment methods in order to preserve the social adaptation of patients [5,6,9,10,[13][14][15]. But the presence of signs of epiphyseal dysplasia in patients with osteoarthritis of the joints of the limbs is quite often overlooked by practicing doctors, which disorients the prospects for the use of conservative treatment methods and leads to unjustified postponement of effective surgical intervention [12,[15][16][17][18][19][20].…”