Introduction Osteogenesis Imperfecta (OI) is a genetic disorder affecting 1 in 10,000 births with a wide variability in phenotypes. Clinical manifestations include; recurrent fractures, bone pain, varying degrees of short stature and deformity, scoliosis, kyphosis, and respiratory failure in the severest types.
Sleep disorders are often under-acknowledged and are frequently more problematic in children with chronic illnesses. Children with OI are likely to complain of poor sleep quality due to pain, night sweats, structural changes in the chest and spine restricting the lungs, and soft tissues changes leading to decreased muscle tone, which may be linked to obstructive sleep apnoea.
The aim of the current project was to examine whether sleep-related problems are a significant issue to patients with OI at Sheffield Children’s Hospital.
Methods A convenience sample of children with OI and their carers completed questionnaires designed by the project team to capture sleep and respiratory-related problems [service evaluation SE1090].
Results 55 patients (26 female; mean age 12.77yrs; range 3.1–17.3) and carers completed the questionnaires during routine admission or clinic appointment. Participants were classified by OI type; 32-mild, 13-moderate, 10-severe.
67% reported difficulty in getting off to sleep. 36% of participants reported waking in the night, with discomfort (44%) and feeling too hot (36%) being the most common causes. Frequency of night time waking ranged from 0–4 times a night. 27% of participants reported snoring.
Discussion This service evaluation highlighted that OI patients are reporting sleep-related issues and further focus on sleep in the clinical history may be of importance. A pilot study examining the feasibility of polysomnography and sleep-related questionnaires in children with OI is currently underway to further research sleep in this cohort.
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