Abstract
BACKGROUND: Children with the rare bone disease osteogenesis imperfecta (OI) suffer from difficulty sleeping, and breathing problems during sleep, which can affect their long-term physical and mental health, and consequently their quality of life. In addition, children and young people with OI have structural and soft tissue changes which could affect breathing both during sleep and in relation to lung function. Although commonly reported, we do not fully understand how many children are affected, the specific causes (and hence the most effective treatment) and how best to identify these sleep related breathing problems. Our aim was to assess the feasibility of undertaking a clinical study that would investigate the frequency, severity and potential causes of sleep and breathing related problems in children with OI. METHODS: Twelve children aged 4 to 16 years with a diagnosis of osteogenesis imperfecta attending Sheffield Children’s Hospital were recruited to a prospective observational study. All participants underwent demographic history, quality of life questionnaires, spirometry and overnight in-laboratory polysomnography (PSG) during a 20-month period. RESULTS: Recruitment targets were reached, and all investigational procedures were well tolerated by children and young people with OI. Clinically abnormal findings from polysomnography (sleep disordered breathing, excessive leg movements and delayed sleep latency) and from spirometry (restrictive airways disease) were identified in seven out of twelve participants who were referred on for further sleep and respiratory investigations. In addition, quality of life of children and young people with OI was lower than the population norms and children with other long-term conditions. These findings justify the need for a larger study, and highlighted some areas for improvement to the methodology for incorporation into future study designs. CONCLUSION: It is feasible to carry out a study investigating sleep and breathing problems safely in children with all severities of OI. This feasibility study supports the need for a multicentre trial to investigate this further, with the potential to improve clinical care. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12891-025-09208-4.