141 Chapter 7 tance of this topic for further research is clear – especially as chronic pain is an additional burden for people who already have significant impairments (Chapter 3). Research environmental and social factors that may influence quality of life In the Netherlands, the resources available for people with physical disabilities are widely available, perhaps more so than elsewhere in the world 92. Another key factor is how parents raise their children who have OI. Parents who have been very overprotective indirectly cause their children to be less able to cope with adversity and to have less muscle development, which can lead to more negative symptoms of OI 15,93. In addition to the physical limitations, there is also a psychological component in which people with OI are constantly aware of their vulnerability. For people with type 1 OI, this vulnerability is often not evident on the outside, which can actually be a burden. Fatigue from frequent hospital visits, feelings of isolation, loneliness and withdrawal can be an emotional burden. These feelings, in turn, can lead to anger and frustration. Stigma and discrimination may also play a role in perceived psychological quality of life 15. A better understanding of environmental and social factors is needed to improve the quality of life in these areas. Use of gene therapies to improve quality of life Promising strategies for the future treatment of OI and other genetic bone diseases are being developed, such as stem cell transplantation, genetic engineering and the use of molecular chaperones. Unfortunately, because most of these approaches are still in the experimental phase, further research is needed to confirm their therapeutic benefits in OI 94. Continuing the quest to unravel the bleeding tendency in OI The findings of this study highlight the necessity for further investigation into the increased bleeding tendency in OI patients. To advance the understanding of the molecular basis of bleeding susceptibility in this population, future research should focus on analysing correlations with specific genetic mutations and the possible influence of genetic mutations on coagulation pathways, platelet function, and fibrinolysis. Moreover, systematic studies comparing bleeding tendency in different types of OI, tracking the incidence and risk factors of bleeding episodes across various age groups and clinical contexts, are recommended. It is also important to explore the possible association of bleeding complications with other comorbidities commonly found in OI patients, including dental abnormalities and cardiovascular disorders.
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