Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature. It was thought that health-related quality of life (Qol) in patients with OI mainly depends on the severity of the skeletal deformities. However, it has become clear that additional factors can affect the Qol in all OI patients. In this study, we compare dimensions of QoL in adults with OI with a control population. Methods The SF-36 questionnaire was distributed among 330 adult patients with different OI types. Results were compared with two control populations from the Netherlands. Age-matched comparisons were made with one of the two control populations. Results The results were summarized in 8 domains: General and Mental Health, Physical and Social Function, Bodily Pain, Vitality, Physical and Emotional Role. General health and physical function in all types of OI are low compared to controls, except OI type 4 patients aged 55+ years. Bodily pain in OI patients appeared significantly worse than in the control population. There was no significant difference between OI types regarding pain and vitality. Vitality was only in the OI type 1 group significantly lower compared to controls. Patients with OI type 1 had a significantly reduced mental health. Social functioning appeared most effective in type 3 around 20 years of age. Conclusion Qol in adult patients with OI should be an important outcome measure in every OI clinic but the amount of baseline data on this subject in adults is sparse. This baseline measurement study is the largest study to date investigating Qol in OI patients. The mean scores indicate that people with OI generally have a significantly lower Qol than the control population. Further qualitative evaluation of Qol and its influencers is important for future management.

Background: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. Methods: The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). Results: Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/ 2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. Conclusion: Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures. Other symptoms, such as easy bruising and bleeding complications during surgery necessitating transfusions, have also been reported. The aim of the cross-sectional pilot study was to assess the bleeding and bruising tendency in OI patients and to screen for possible underlying haematological disorders. Bleeding tendency was investigated using the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) in 22 adult OI patients. Laboratory testing was performed to investigate for bleeding disorders or abnormal coagulation. Four patients [OI type 1(n = 3), OI type 4(n = 1)] had a bleeding score (BS) fitting with a bleeding tendency, but without test results pointing to a coagulopathy. Two patients [OI type 1(n = 1), OI type 3 (n = 1)] without a bleeding tendency according to the BS had increased fibrinolysis. This is the second largest study to date addressing bleeding tendency in OI and the first study to use ISTH-BAT and elaborate laboratory testing for coagulopathies. Four patients had an increased bleeding tendency. However, laboratory testing demonstrated no bleeding disorder or abnormal coagulation. Increased fibrinolysis was demonstrated in two patients without bleeding tendency on BS. Vascular fragility as a cause of bleeding tendency in OI has been suggested earlier. Further research on bleeding tendency in OI is important.

In the past decade, the population of deaf children has changed considerably in countries that have:• Universal hearing screening • Good multidisciplinary support of both the child and his family after the screening • Qualifi ed paediatric audiologists.

Background Tibial fractures are the most common fractures seen in adults and lead to the most nonunions. Osteogenesis imperfecta (OI) is characterized by increased bone fragility and higher risk of fractures. No studies have been published on the incidence of tibial fractures and nonunions in adults with OI. This study aims to summarize the incidence of tibial fractures and nonunions in this population. Methods A retrospective, descriptive study. All medical charts of adult patients in the OI database of our OI expert clinic were analyzed for tibial fractures between 2008 and 2020. Tibial fracture incidence, nonunion rate, treatment modality and potential risk factors were determined. Results The database consisted of 402 patients, 34 of whom had suffered one or more tibial fractures, resulting in 42 fractures. The incidence of tibial fractures in adults with OI is 870 per 100,000 person-years. Two out of 42 fractures led to nonunion (5%). It was not possible to adjust for risk factors or type of treatment. Conclusion There is a higher incidence of tibial fractures in patients with OI, but a nonunion rate comparable to the general population. With only two nonunions it is not possible to draw conclusions on the influence of risk factors or treatment of tibial fractures on OI.

Purpose Tibia fractures are the most common fractures seen in adults and also lead to the most non-unions. Osteogenesis Imperfecta (OI) is characterized by an increased bone fragility and a higher risk of fractures. No previous studies have been published concerning the incidence of tibia fractures and non-unions in adults with OI. This study aims to give an overview of the incidence of tibia fractures and non-unions in adult OI patients. MethodsIt is a retrospective, descriptive study where all medical charts of adult patients in the OI database of our OI expert clinic were analyzed for tibia fractures between 2008 and 2020. Tibia fracture incidence, non-union rate, treatment modality and potential risk factors were determined.ResultsThe database consisted of 402 patients of which 34 patients had suffered one or more tibia fractures, resulting in 42 fractures. The incidence of a tibia fracture in OI adults is 870 per 100.000 person-years. Two out of 42 fractures led to a non-union (5%). It was not possible to adjust for risk factors or type of treatment. ConclusionThere is a higher incidence of tibia fractures in OI patients, but a comparable non-union rate to the general population. With only 2 non-unions it is not possible to draw conclusions on the influence of risk factors or treatment of tibia fractures in OI.

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