Overview

• Obstructive sleep apnea (OSA) can contribute to cognitive impairment, behavioural difficulties, growth retardation, nocturnal enuresis and extreme cases pulmonary hypertension.

• In typically developing children the prevalence of OSA is reported to be between 1-4%, whilst in children with Down syndrome (DS) studies have shown an incidence between 30- 77%. Younger children, under 5, have been shown to have a higher prevalence of moderate to severe OSA.

• Predisposing factors for OSA in children with DS include midface hypoplasia and mandibular hypoplasia, relative enlargement of the tongue, obesity and hypotonia, predisposing to upper airway collapse at multiple levels during sleep. In addition increased upper airway infections and nasal secretions, and gastroesophageal reflux can lead to increased pharyngeal oedema and further obstruction.

• Symptoms suggestive of OSA include: snoring, restless sleep, enuresis, sweating, unusual sleeping positions, headache, dry mouth on waking, day time tiredness. However, studies have shown it is difficult to diagnose OSA based on clinical symptoms alone.

• OSA results in deficits in executive function behaviours and cognitive functioning and possible impact on early onset Alzheimer’s disease, particularly in Down syndrome.

• There is a growing evidence recommending that all children with Down syndrome should be offered screening with an overnight pulse oximetry, once in infancy and thereafter yearly till aged 5 years and to have a low threshold for screening throughout the lifespan. A negative result in the presence of symptoms should be followed up with detailed sleep polymsomnography studies.

• Management includes treating underlying nasal congestion, lower respiratory infections, gastroesophageal reflux, addressing any weight management issues, removal of enlarged tonsils and adenoids (T & A’s). Persistent residual airway obstruction after removal of T & A’s can be present in up to 10-20% in children with Down syndrome due to a number of reasons including re-growth of adenoids and multi-level obstruction. If symptoms persist, despite the appropriate treatment overnight, positive ventilation with nasal CPAP/BiPAP should be considered and offered, prior to any further maxillofacial surgical interventions.

Presentations at DSMIG Meetings

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Additional Resources

Lee CF, Lee CH, Hsueh WY, Lin MT, Kang KT. Prevalence of Obstructive Sleep Apnea in Children With Down Syndrome: A Meta-Analysis. Journal of Clinical Sleep Medicine. 2018 May 15;14(5):867-75.

Hill CM, Evans HJ, Elphick H, Farquhar M, Pickering RM, Kingshott R, Martin J, Reynolds J, Joyce A, Rush C, Gavlak JC. Prevalence and predictors of obstructive sleep apnoea in young children with Down syndrome. Sleep medicine. 2016 Nov 1;27-28:99-106.

Nehme J, LaBerge R, Pothos M, Barrowman N, Hoey L, Monsour A, Kukko M, Katz SL. Predicting the presence of sleep-disordered breathing in children with Down syndrome. Sleep medicine. 2017 Aug 1;36:104-8.

Brockmann PE, Damiani F, Nuñez F, Moya A, Pincheira E, Paul MA, Lizama M. Sleep-disordered breathing in children with Down syndrome: Usefulness of home polysomnography. Int J Pediatr Otorhinolaryngol. 2016 Apr; 83:47-50.

Horne RS, Wijayaratne P, Nixon GM, Walter LM. Sleep and sleep disordered breathing in children with down syndrome: Effects on behaviour, neurocognition and the cardiovascular system. Sleep Medicine Reviews. 44, 2019, pp. 1-11

Obstructive sleep apnoea in Down syndrome Current knowledge and future directions. BACCH. 2017 Southampton Dr Cathy Hill Associate Professor of Child Health & Consultant in Sleep Medicine

Updated 14.04.2019 by

Dr Shiela Puri

Consultant Community Paediatrician, Leeds

With thanks to Dr Cathy Hill, Dr Cathy Hill Associate Professor of Child Health & Consultant in Sleep Medicine, Southampton.