Living with osteogenesis imperfecta

Osteogenesis Imperfecta (OI) is a hereditary connective tissue disorder with fragility of the bones as the dominant symptom. There is no cure for OI, but symptoms are treated with medical, orthopaedic and physiotherapy methods. The disease group is very heterogeneous and knowledge about adults living with the milder forms, type I or IV is limited.

This thesis is based on two studies with the overall aim to describe health conditions in adults with OI, type I or IV. The aim of Study I was to describe physical activity, pain, joint mobility, muscle function in lower extremities, quality of life, and satisfaction of life in adults with mild-to-moderate OI. The aim of Study II was to explore experiences of living with OI and how this affects functioning in daily life.

The participants were recruited through patient records from the national resource centre at Karolinska University Hospital, by the Swedish OI association, and among family members of already recruited participants. Inclusion criteria were being over 18 years of age, diagnosed with OI, type I or IV, and ability to walk, with or without walking aid. Forty men and women between 21-71 years were identified during 2002-2009, and 30 out of these consented to participate in both Study I and II. Assessment methods were self-reported questionnaires, a clinical examination, and in-depth interviews.

The results showed that all domains in International Classification and Functioning, disability and health (ICF) were affected by the disease. Pain, balance impairment, scoliosis, kyfoscoliosis, contractures, hyper-mobility of joints, decreased muscle function of lower extremities, hearing deficit and dental problems were found in the domain body function and structure. In the domain activity/participation a decreased health related quality of life, an overall high satisfaction of life, trouble with running, lifting heavy objects and conducting heavy work were found. Despite this, 19 out of 27 reported adherence to the general recommendations for daily physical activity. From the interviews several important environmental factors and personal factors were identified.

The heterogeneity of the disease group makes it difficult to give a general view of an adult person living with OI, type I or IV. Even though the identified impairments, activity limitations, participation restrictions, environmental and personal factors found in this thesis do not apply for all adults with OI, it is important to remember that they may be present when caring and treating an adult with OI.

List of scientific papers

I. Balkefors V, Mattsson E, Pernow Y, Sääf M. Functioning and Quality of Life in Adults with Mild-to-Moderate Osteogenesis Imperfecta. Physiother Res Int 2013;18:203-11.
https://doi.org/10.1002/pri.1546

II. Balkefors V, Ståhle A, Biguet G. Being an expert on my rare condition – for better or worse. Adults’ experience of their Osteogenesis imperfecta. [Manuscript]