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Down syndrome and obstructive sleep apnoea: better screening to help early diagnosis and unnecessary suffering

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What did the project achieve?

“We’ve been testing a simple way to screen for a night-time breathing problem in children with Down syndrome,” says Dr Catherine Hill, of the University of Southampton. “We hope our work will lead to routine screening for the problem, called obstructive sleep apnoea or OSA, so more children with Down syndrome can benefit from early treatment.”

Around 750 babies are born with Down syndrome each year in the UK.1 Dr Hill’s research suggests 15 per cent of young children with Down syndrome, who are between just six months and six years old, have OSA that’s severe enough to affect their daily life.

Children with OSA stop breathing for a few seconds at a time during sleep, often several times a night. “OSA causes oxygen levels in the blood to drop and disrupts children’s sleep, which can affect children’s concentration, ability to learn and behaviour in the day,” says Dr Hill. “Children with Down syndrome already have learning difficulties, so it is particularly important that OSA is recognised and treated.”

The team’s screening test can be performed at home. Children have a small device called a pulse oximeter, which measures oxygen levels in the blood, attached to their toe while they sleep and their parents complete a questionnaire. This helps to identify children who might have OSA, so they can be referred for specialist care.

The team is working with the Down syndrome medical interest group, who oversee national screening recommendations, to implement their findings into routine practice.


1. Down’s syndrome association. About Down’s syndrome: FAQs. http://www.downs-syndrome.org.uk/about-us/key-facts-and-faqs/faqs/general-faqs.html

This research was completed on

This research was completed on 31 May 2015

Estimates suggest around half to three quarters of children with Down syndrome suffer from a breathing disorder called obstructive sleep apnoea (OSA), which disturbs their sleep and can lead to problems with growth, learning and behaviour.1-4 The disorder can also put extra strain on the hearts of these children. If diagnosed, OSA can be treated. However, difficulties with diagnosis mean children may be suffering unnecessarily. Dr Catherine Hill, of the University of Southampton, is investigating the suitability of two possible screening tests for OSA. She hopes to improve diagnosis so more children can benefit from early treatment.

What is the problem and who does it affect?

Each year in the UK, around 750 babies are born with Down syndrome.5

Many children with Down syndrome develop OSA, a breathing disorder that disturbs sleep. Typically, the children stop breathing for a few seconds at a time during their sleep and then start breathing again with a rapid gulping for air. Each time the children stop breathing, oxygen levels in their blood fall, which can be harmful.

Sadly, OSA can have serious consequences. “Children with OSA commonly experience repeated night waking, which not only disrupts their sleep but often that of other family members too,” explains Dr Hill. “If untreated, OSA can affect the children’s health and their quality of life. The condition can put extra strain on the hearts of children with Down syndrome, around 50 per cent of whom are born with heart problems.6 Children may also fail to grow as quickly as expected. More commonly, OSA affects children’s ability to pay attention, their learning, behaviour and school performance. Unfortunately, these effects may be overlooked and assumed to part of living with Down syndrome.”

Even though the children’s breathing can be interrupted several times a night, parents may not notice what’s happening to their child. It is thought that in many cases the children’s problems go undiagnosed. Importantly, OSA can be treated, but first it must be recognised and accurately diagnosed.

What is the project trying to achieve?

Dr Hill is investigating the suitability of two possible screening tests – a technique called pulse oximetry and a sleep questionnaire – to see if they could be used alone, or in combination, to identify children with Down syndrome who have OSA. Pulse oximeters are small devices, which can be attached to children’s toe during sleep. They measure oxygen levels in the blood.

Hospitals in Southampton, Sheffield and London are recruiting a total of 180 children with Down syndrome aged six months to six years to take part in this study.

“Although OSA can be treated, children with Down syndrome are not routinely screened for OSA, because we lack evidence on when and how to do that. We aim to provide that missing evidence so that doctors can introduce routine screening. We hope this will improve the health of children and the quality of life of both children and their families.”

What are the researchers’ credentials?

Dr Hill, a sleep specialist, and her colleague Dr Hazel Evans, a children’s lung specialist, have a successful track record of researching disordered breathing during sleep in children with developmental disabilities. Supporting the project are two excellent teams, both with impressive research records, led by London Professor of Paediatric Sleep Medicine, Paul Gringras, and Sheffield lung specialist Dr Heather Elphick.

Project Leader Dr Catherine M Hill BM MSc MRCP FRCPCH
Project team Dr Hazel Evans MBBCh MRCPCH MD Professor Paul Gringras MBChB, MSc, MRCPCH Dr H Elphick MBChB MD MRCPCH Dr Ruth M Pickering PhD
Location Division of Clinical Experimental Sciences, Faculty of Medicine, University Hospital Southampton and University of Southampton
Other locations Department of Respiratory Paediatrics, University Hospital Southampton Department of Paediatric Sleep Medicine, Evelina Children's Hospital, London Department of Respiratory Medicine, Sheffield Children's Hospital Department of Public Health Sciences and Medical Statistics, Faculty of Medicine, University of Southampton
Duration Two years
Grant awarded 26 July 2012
Start date 4 April 2013
End date 31 May 2015
Grant amount £199,752
Grant code GN2040
Acknowledgements This project funded by a generous donation from the Garfield Weston Foundation.

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  1. Marcus C, et al. Obstructive sleep apnea in children with Down syndrome. Pediatrics 1991; 88:132.
  2. Dyken ME, et al. Prospective polysomnographic analysis of obstructive sleep apnea in Down syndrome. Arch Pediatr Adol Med 2003; 157:655-60.
  3. de Miguel-Diez J, et al. Prevalence of sleep-disordered breathing in children with Down syndrome: polygraphic findings in 108 children. Sleep 2003; 26:1006-9.
  4. Working party on sleep physiology and respiratory control disorders in childhood. Standards for services for children with disorders of sleep physiology. Report. September 2009. http://www.woscor.scot.nhs.uk/documents/RCPCH%20Sleep%20Guidelines.pdfWebsite accessed 18 September 2012.
  5. Down’s syndrome association. General FAQs. http://www.downs-syndrome.org.uk/about-us/key-facts-and-faqs/faqs/general-faqs.html Website accessed 7 September 2012.
  6. Richard Urbano (9 September 2010). Health Issues Among Persons With Down Syndrome. Academic Press. p. 169. ISBN 978-0-12-374477-7. Retrieved 10 April 2012.


We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.