Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Storoni, Silvia; Treurniet, Sanne; Maugeri, Alessandra; Pals, Gerard; Aardweg, Joost G. van den; Pas, Stéphanie van der; Elting, Mariet W.; Kloen, Peter; Micha, Dimitra; Eekhoff, E.M.W.

doi:10.3389/fendo.2022.869604

Cited by 8 publications

(8 citation statements)

References 16 publications

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“…[4,5] A recent study from the Netherlands reported that OI patients aged 1 to 19 years experienced the highest hospitalization rate. [7] 0 We note that the frequency of lower limb fractures in the younger age group decreased with age. However, upper limb fracture rates increased with age, reaching a peak at 9 to <12 years.…”

Section: Fracture Ratesmentioning

confidence: 79%

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The Natural History of Symptomatic Fractures in Children and Adolescents with Osteogenesis Imperfecta Type 1: A Cohort Study from Western Australia

2023

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The fracture experience of children and adolescents with osteogenesis imperfecta (OI) type 1 is not well described in the literature. We present data on symptomatic long bones and axial skeleton fractures of all patients aged 0 to 18 years with OI type 1 seen at a specialized bone clinic in Western Australia in the period 2008 to 2020 using a retrospective chart review method. The cohort consisted of 44 patients (21 males, 23 females). Median (interquartile range [IQR]) age was 11.3 (6.2 to 17) years, giving a total of 520 patient‐years in the study during which 197 fractures were experienced. The mean fracture rate was 379 fractures per 1000 patient‐years (95% confidence interval [CI]: 310 to 440); however, the experience for fractures varied from ≤1 fracture in 23% (n = 10) to two to 20 in 77% (n = 34) of the cohort. Twenty‐one patients (48.5%) received bisphosphonates during the study period. In logistic regression, age, but not sex or family history of OI, was a significant predictor of fracture risk. The highest total fracture rate was observed in the age group 0 to <3 years at 469 fractures/1000 patient‐years, which declined to 140 fractures/1000 patient‐years in the age group 15 to 18 years. The lower limbs were the site of 49.7% of all fractures. The highest rate for lower limb fracture was in the age group 0 to <3 years at 331 fractures/1000 patient‐years, decreasing to 0 fractures/1000 patient‐years in the age group 15 to 18 years. Upper limb fracture rates increased from 100 fractures/1000 patient‐years in the 0 to <3 years age group to 307 fractures/1000 patient‐years in the 9 to <12 years age group and then declining to 70 fractures/1000 years in the 15 to 18 years age group. In pediatric patients with OI type 1, fracture risk is highest in early life, especially in the lower limbs. Multidisciplinary care of children with OI should have a particular focus on strategies to prevent these fractures. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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Section: Fracture Ratesmentioning

confidence: 79%

“…[ 4 , 5 ] A recent study from the Netherlands reported that OI patients aged 1 to 19 years experienced the highest hospitalization rate. [ 7 ]…”

Section: Discussionmentioning

confidence: 99%

The Natural History of Symptomatic Fractures in Children and Adolescents with Osteogenesis Imperfecta Type 1: A Cohort Study from Western Australia

2023

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“…This nding could be attributed to either a high readmission rate or a high prevalence rate of OI. Storoni et al revealed that people with OI are hospitalized 2.9 times more frequently compared to the general population [20]. Another study conducted in the United Kingdom reported that OI patients had higher hospitalizations per year on average compared to other patients [21].…”

Section: Discussionmentioning

confidence: 99%

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study

Kolambage,

Walpita,

Liyanage

et al. 2023

Preprint

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Background Skeletal dysplasias (SD) are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient's functionality. The worldwide prevalence of SD at birth is approximately 1:5000 births. To date, disease burden and trends of SD in the Sri Lankan population have not been described in any epidemiological study. Our aim was to evaluate the burden and the current trends in hospital admissions for SD in the Sri Lankan population. A retrospective evaluation of hospital admissions for SD during 2017-2020 was performed using population-based data from the eIMMR database which covers government hospitals in the entire country. The trends in hospital admissions for SD by calendar year, age, and types of SD were described using appropriate summary statistics. Results Respective crude admission rates of SD in the years 2017, 2018, 2019 and 2020 were 5.2, 8.1, 8.0, and 6.5 per million population. A female predominance was noted during the studied period (1.4: 1). Of all reported cases majority (n=268; 44.2%) were children less than 4 years. Each year, 0-4 years age group represented 40% to 47% of the total hospital admissions. More than half of the cases were reported from Colombo (28.1%) and Kandy (25.4%) districts combined. Sixty percent of cases were diagnosed as osteogenesis imperfecta (OI). Rising trends were observed in the hospital admissions for osteogenesis imperfecta, achondroplasia and osteopetrosis, while other SD types collectively showed a relatively stable trend. Conclusion This preliminary study revealed a female predominance of SD and a relatively high admission rate of osteogenesis imperfecta in the Sri Lankan population. A distinct trend was not visible in the studied years probably due to the impact on hospital services due to COVID- Pandemic. Future research on the healthcare burden on families affected by SD is required to better understand the overall cost of care and identify therapies that reduce admission rates. This study highlights the value of analysing population-based data on rare diseases to improve healthcare in low-resource countries.

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“…Patients' phenotypes range from non-deforming OI to progressively deforming OI, in which patients are frequently wheel-chair bound, to perinatally lethal (7)(8)(9). In addition to skeletal abnormalities, OI patients may experience complications such as hearing loss, dentinogenesis imperfecta, cardiovascular problems, and respiratory complications (10)(11)(12)(13)(14). Despite the evident significance of respiratory complications in OI, there are currently no established guidelines for the management and monitoring of respiratory function in OI patients.…”

Section: Introductionmentioning

confidence: 99%

Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

Storoni,

Verdonk,

Micha

et al. 2023

Front. Med.

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IntroductionRespiratory insufficiency is a leading cause of death in individuals with osteogenesis imperfecta (OI). However, evaluating pulmonary function in OI presents challenges. Commonly used pulmonary function tests such as spirometry and body plethysmography are sometimes difficult to perform for OI patients, and reference intervals are not always applicable. The forced oscillation technique (FOT) is a patient-friendly method for detecting respiratory abnormalities that requires no effort from the patient.ObjectiveThis study investigates the feasibility of FOT in the evaluation of respiratory function in the clinical management of OI patients.MethodsTwelve OI patients, comprising eight with Sillence OI I, two with OI IV, and two with OI III, underwent spirometry, body plethysmography, and FOT, both pre-and post-administration of salbutamol.ResultsFOT measurements exhibited consistent trends that aligned with spirometry and body plethysmography findings. The resistance at 8 Hz decreased after the administration of salbutamol, indicating that FOT is able to detect bronchial obstruction and its alleviation by medication (p < 0.05). The resonant frequency during expiration was higher than during inspiration in nearly all patients, suggesting obstructive disease. The technique gives insight into both inspiratory and expiratory impairment of pulmonary ventilation. The main FOT parameters showed a relatively high repeatability in duplicate measurements.ConclusionBronchial obstruction can be detected by FOT in patients with OI during quiet breathing, making it an easily executable alternative to other lung function measurements. The technique can detect the bronchodilator effect of sympathomimetic medication. It has the potential to provide information on expiratory flow limitation, pulmonary restriction, and reduced lung compliance.

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Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Cited by 8 publications

References 16 publications

The Natural History of Symptomatic Fractures in Children and Adolescents with Osteogenesis Imperfecta Type 1: A Cohort Study from Western Australia

The Natural History of Symptomatic Fractures in Children and Adolescents with Osteogenesis Imperfecta Type 1: A Cohort Study from Western Australia

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study

Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

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