Children with achondroplasia – when to refer for a Polysomnography?

Introduction: Children with achondroplasia have hypotonia, micrognathia and mid-facial hypoplasia that predispose them to sleep-disordered breathing (SDB). Assessments with polysomnography (PSG) are recommended to screen these children for SDB. However, as PSG is not widely available, clinicians have to rely on their clinical assessment to guide referral for further assessment. Aim: To record the presenting symptoms and PSG findings in children with achondroplasia, and to ascertain whether any clinical symptoms were indicative of SDB. Method: Retrospective review of children with achondroplasia who had PSG performed during the last 8 years (2011-2018). Results: 16 PSGs were performed in children with achondroplasia during the study period; 10 (63%) of which were positive for SDB. Discriminatory sleep symptoms in patients with and without SDB are shown in Table 1. Conclusions: This study suggests that night-time awakening;mouth breathing and excessive sweating during sleep;daytime sleepiness, tiredness and difficulty waking up may suggest SDB in children with achondroplasia. These symptoms were more discriminatory than the commonly reported symptoms like snoring or restless sleep. This information can help frontline clinicians to identify patients who need to be referred for PSG.