134 ple with OI and the control population. This suggests that disease severity and additional physical limitations do not automatically result in lower perceived mental health. Nor does a milder form of the disease lead to better mental health, as type 1 OI is considered to be relatively mild. This points to a well-known phenomenon known as the “disability paradox”, where quality of life is not entirely determined by physical limitations, but is much broader and includes, for example, one’s world view, social context, and social relationships 26,27. There may be an increased risk of mental health problems in diseases with long-term physical limitations. In Ehlers-Danlos syndrome, a similar collagen disease with long-term physical limitations, increased anxiety and depression were found 28. Several other long-term conditions with physical limitations have shown increased anxiety and depression 29,30. People with OI face various challenges that may require psychological counselling and support, such as reproductive decision-making. The recurrence risk of OI in offspring is 50% for patients with autosomal dominant OI variants 31. In rare cases of OI, with an autosomal recessive inheritance, the recurrence risk is low (but may be higher in consanguineous families). Before becoming pregnant, individuals may wish to receive genetic counselling about the risk of having a child with OI and the reproductive options available, including not having children, pre-implantation genetic testing, prenatal diagnosis (chorionic villus sampling or amniocentesis), sperm/egg donation, adoption or accepting the genetic risk 32. Several studies have shown a positive correlation between the ability to have offspring and satisfaction with quality of life in both men and women and across different cultures 33. Having a genetic disorder or being a carrier (couple) has a strong impact on the reproductive decisions, and if parents feel that they cannot provide adequate care and dedication to a child with OI, this may affect their desire to have children 34. Decisions about reproductive options, such as pre-implantation genetic testing or prenatal DNA-diagnostics, are psychologically demanding and feelings of anxiety are commonly expressed 35–37. Besides counselling on reproductive decisions, patients with OI may also want to be informed about the genetic risks for other family members. What is the impact of fatigue on daily functioning in people with OI compared to control populations? Fatigue is an important factor reducing functional quality of life in individuals with OI (Chapter 3). In addition, frequent fractures, reduced muscle strength 38, reduced pulmonary function 39,40 and cardiological comorbidities 41–43 can also impair functional quality of life. A wide range of interventions are available to improve functional quality of life and reduce the impact of impairing factors, even in the
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