Searchable abstracts of presentations at key conferences on calcified tissues
Bone Abstracts (2019) 7 P196 | DOI: 10.1530/boneabs.7.P196

ICCBH2019 Poster Presentations (1) (226 abstracts)

Sleep related problems in children with osteogenesis imperfecta

Kieran Murphy , Claire Hill , Nicki Barker & Ruth Kingshott

Sheffield Children’s NHS Foundation Trust, Sheffield, UK.

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 under-acknowledged and are often more problematic in children with chronic illnesses. Moldosky1 identified the link between pain affecting quality of sleep, suggesting that lack of sleep contributes to the pain itself. Children with OI may also be likely to complain of poor sleep quality due to night sweats, structural changes in the chest and spine restricting the lungs, and changes in soft tissues leading to decreased muscle tone, which may be linked to obstructive sleep apnoea.

Objectives: Gain an understanding of sleep related problems in OI. Understand whether sleep related problems are a significant issue within our patient cohort which require more routine assessment and management.

Methods: Patient and carer questionnaires.

Results: 55 patients and their parent/carer completed the questionnaires during routine admission or outpatient appointment. The patient cohort included 26 females, age range 3.1 to 17.3 years, mean age 12.77. The group varied in terms of the type of OI; 32 mild, 13 moderate, 10 severe. More than half of the patients questioned (67%) reported difficulty in getting off to sleep. 36.4% 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. Over half the participants reported snoring.

Conclusions: This service evaluation has highlighted a large proportion of OI patients have issues related to sleep; difficulty settling to sleep; night time waking and difficulty getting up in the morning. A pilot study on a small sample of OI patients is ongoing, examining the feasibility of full polysomnography sleep studies, alongside sleep related questionnaires. This will indicate the most suitable assessment(s) required to uncover sleep related disorders in OI, hopefully developing a screening tool for future use and reducing the need for full PSG inpatient assessments.


1. Moldosky H. Sleep and pain. Sleep Medicine Reviews. 2001;5:387–398

Disclosure: The authors declared no competing interests.

Volume 7

9th International Conference on Children's Bone Health


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