Bone Abstracts

Osteogenesis Imperfecta (OI) is in most cases a congenital disease of collagen. The mutations have been reported in COLIA1 and COLIA2 genes, localised to chromosomes 17 and 7 respectively. The incidence at birth is 6–20/100 000. Children and youths with OI often display a complex and heterogeneous picture with fragile skeleton, fractures, curvature in the long bones, short stature, pain and limitations in mobility and everyday activity. The impact of those factors for the psycho-social situation and quality of life in the children and youths are to a less extent described. The aim of the study was to explore factors the children and youths with OI, thought were central in their life situation and for their quality of life. The study design was a descriptive survey. A consecutive sample of ten children and youths with OI (type I, III and IV) in the age 9–19 years participated. The participants were interviewed with a semi-structured questionnaire, including questions about school, leisure, hospital care, knowledge of OI, physiotherapy and furthermore they rated their quality of life. The everyday activity was investigated by pediatric evaluation of disability inventory (PEDI). The result revealed children with type III having a tendency for rating their Quality of life higher than those with type I and IV. To be short was experienced to be really difficult by many participants and some thought it was the most difficult part. An important factor was to have a close contact with an orthopedic surgeon specialized in OI. Most participants wanted ‘goal directed activity focused’ physiotherapy, with possibilities to learn and practice to be independent with for example toileting activities and dressing. Moreover, most participants also wanted pool training.