39 Chapter 2 Discussion Most studies on QoL in OI have focused on children; hence, studies reporting on QoL of adult patients with OI are sparse. We used the SF-36 questionnaire to measure QoL in 322 adults with OI. The objective was to describe and compare the QoL in adults with a clinical diagnosis of OI types 1, 3, and 4 in different age categories with controls. The control group consisted of 2834 healthy Dutch adults reported in two studies 5,11, with one group divided into age categories (n = 1063) 11. A recent online survey of 300 self-reported patients with OI, consisting of 198 adults, investigated QoL using nine patient-reported outcomes measurement information system (PROMIS) computer adaptive testing (CAT) instruments 13. QoL has also been investigated in adults with OI using the SF-36 questionnaire. In these studies, the number of adult participants ranged from 15 to 85,14–18 which makes the current study the largest study to date investigating QoL in adults with OI. Our adult OI cohort reported significantly decreased psychosocial and physical QoL across multiple domains and age groups, compared with the control group(s). We identified multiple significant differences between adults with OI and the controls. The results of physical function per OI type and age category reflect what we see in our outpatient clinics. Physical function in the overall cohort is significantly lower compared with controls, and patients with OI type 3 have the lowest physical function. Patients with OI type 1 aged 18 to 24 years have the highest physical function. This may be because it is OI type 1, which is characterized by the absence of bone deformation, and sometimes it can be mild and difficult to diagnose in the absence of a family history. Additionally, in adulthood, the fracture rate is known to decrease significantly in contrast to the childhood fracture rate. Only in patients with OI type 1 did we observe significantly reduced mental health compared with controls, probably because of the greater sample size. Mental health in the overall OI cohort compared with the control groups was significantly lower and in line with observations by Hald and colleagues 18 and Widmann and colleagues 15, where the mental domains were less affected than the physical domains in people with OI. Supplementary Table S3 provides a detailed comparison with only the study by Hald and colleagues because of their larger number of participants (n = 85) and data availability. The relative sparing of psychosocial dimensions of QoL in patients with OI was also observed in patients with Marfan syndrome 19 and patients living with congenital heart disease 20, as well as patients with OI 18. Perhaps the adults with OI have developed coping skills during their childhood
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