Sleep disordered breathing in children with achondroplasia

Abstract

Background: Achondroplasia is an autosomal dominant condition which can lead to several complications, including those of the upper airway and respiratory system. Sleep disordered breathing (SDB) is highly prevalent in patients with achondroplasia. However, central sleep apnoea or abnormal activity of the muscles of respiration is also well-recognised. Children with sleep disordered breathing are recognised to have sequelae including deficits in neurocognitive performance, behavioural disturbance, and school performance. Methods: A formal search and systematic review of the published literature will be undertaken. The approach to screening, diagnosis, and management of sleep disordered breathing in patients with achondroplasia managed through the Lady Cilento Children's Hospital (LCCH) in Brisbane will then be compared against the published guidelines and evidence from the systematic review. Reasons for compliance or noncompliance with published guidelines will be considered. Progress to date: The systematic review of the published literature is currently being completed. 24 patients having one or more sleep studies at LCCH were identified since December 2014. Most patients were referred for a diagnostic sleep study (67%). 63% of patients were referred because of symptoms concerning for sleep disordered breathing. 40% of asymptomatic patients had an abnormal sleep study. 63% of patients who had a sleep study had a change to their non-invasive ventilation or referral for surgical intervention. These data still need to be compared against the published literature. Intended outcome and impact: The extent to which Australian paediatric sleep units adhere to published guidelines with regards to the screening and diagnosis of sleep disordered breathing in patients with achondroplasia is not known and opportunities may be identified where screening and diagnosis in this vulnerable patient group could be optimised.L6246119112018-11-01 <br />