Koert Gooijer

18 Aim and outline of this thesis The aim of this thesis is to gain insights into quality of life issues and bleeding tendency in persons with Osteogenesis imperfecta (OI). To improve patient care and guidance and to increase the diagnostic capabilities, it is important to look at OI in a broader context than just a disease with bone fragility. Part I of this thesis focusses on the quality of life in people with OI. The following research questions were addressed: 1. What is the quality of life in people with OI compared to control populations? (Chapter 2) 2. What is the impact of fatigue on daily functioning in people with OI compared to control populations? (Chapter 3) In part II of this thesis the bleeding tendency in OI is investigated and the following research questions were formulated: 3. What is the prevalence of bleeding tendency in OI compared with a control population? (Chapter 5) 4. What are the clinical manifestations of bleeding tendency in OI? Is diagnostic testing for bleeding disorders indicated? (Chapter 4 and 6) 5. Which bleeding events are most clinically relevant in OI? What can be learned from therapeutic considerations in other mild bleeding disorders? (Chapter 5)

RkJQdWJsaXNoZXIy MTk4NDMw