The Foundation is currently funding a Systematic Review of Research into Sleep Apnea Treatments in children with Down’s syndrome.

This piece of work forms part of ongoing research led by Dr. Cathy Hill and her team at the University Hospital Southampton. Our funding of the Systematic Review will allow Dr. Hill and her team to make further improvements. A Systematic Review of Research is a ‘deep dive’ into all published and unpublished research looking to answer a specific question.  The scope of the search has been obstructive sleep apnoea treatments in children with Down syndrome,  how best to diagnose it and what impact it has on children’s sleep and developing brains.  Dr Rina Cianfaglione, research fellow to Dr Hill, will scrutinise the papers and systematically review the research that we have to date on OSA treatments in children with DS.

Why is it important to detect and treat Obstructive Sleep Apnea?

The detection and treatment OSA is vital because left untreated causes daytime behavioural problems, impaired learning and school performance, high blood pressure, reduced quality of life and increases health care use. Symptoms, such as snoring, gasping and restless sleep, and doctor’s examination are unreliable predictors of OSA, so objective screening is needed.

Currently children are not routinely screened and OSA is a low priority for many doctors.  We at the Foundation however have grave concerns that the lack of detection and treatment protocols are causing multiple issues and reduction in quality of life for thousands in our community.

What does obstructive sleep apnoea look like?

Obstructive sleep apnoea (OSA) affects the throat (between the mouth and the voicebox) which is an important passageway for food to get to the stomach, but also air to the lungs. Because this tube is floppy it can block when children sleep, as their muscles relax. Children with Down syndrome have naturally lower muscle tone and a narrower airway, which is why they are more likely to have sleep apnea. When children snore, gasp for air and struggle to breathe in their sleep, this suggests the tube may be blocked. This is called ‘obstructive sleep apnea.’ It can happen throughout the night or only at certain times during the night. Often this causes children to wake up, but others simply become restless and toss and turn. Many children with this problem will sleep in unusual positions as they try to make more space in their airway to breathe, for example, sleeping with their head tipped back or sleeping sitting up. Either way, their sleep is disturbed and this can make them cranky or sleepy in the day- but not always! 

• OSA is one of the most common comorbidities in people with DS.
• Obstructive sleep apnoea (OSA) affects up to 75% of children Down’s syndrome (DS) compared to 1-3% of typically developing children.
• OSA occurs when the back of the throat repeatedly collapses during sleep, blocking the airway and leading to repeated dips in blood oxygen and broken sleep.
• Vulnerability to OSA occurs throughout life in DS.
• In adults it increases risk of stroke and dementia.
• It is possible that OSA may contribute to the high prevalence of Alzheimer’s disease in adults with DS.

What is being done about it?

Parents frequently miss OSA or think the symptoms are ‘normal for Down’s syndrome’. Medical examination in the day may be normal offering false reassurance. UK national guidelines for OSA screening are rarely followed. Detection is crucial and research has demonstrated that initial screening with a simple tool (home pulse oximetry) sensitively detects OSA. This saves around half of all children needing detailed sleep studies in hospital. This urgently needs ‘real world’ evaluation to assess practical aspects of implementation before adoption within national medical screening guidelines for Down’s syndrome.

What are the current treatments for obstructive apnoea?

The standard treatment for childhood OSA is adenotonsillectomy (AT) but children with DS have higher risk of post-operative bleeding and admissions are most costly than for typically developing children. Furthermore, outcomes are not good. AT fails to eradicate OSA in 79% of children.  This is not surprising as OSA in children with DS is also caused by low tone in the airway, overweight and structural differences in the face and tongue. An alternative approach is continuous positive airways pressure therapy (CPAP). This delivers a flow of air under pressure through a face mask, keeping the airway open at night.  Reports from the UK and Australia suggest CPAP adherence and success in around 50% of children with DS. This is not perfect but is better than 21% success with AT and has fewer risks. CPAP needs to be assessed in a randomised controlled trial (RCT) and the Systematic Review will support further grant applications.

David testing his CPAP mask at his sleep study…two thumbs up!

In other news… How’s your Christmas shopping going? Can you help research at the same time?

Did you know that you can show your support through Amazon Smile by clicking below before you do your shopping and .5 % goes to support our work helping those living with DS at no cost to you?

All you need to do is  select us as your chosen charity.

And every time you shop use – https://smile.amazon.co.uk/ rather than the plain amazon site and you’ll be showing your love for quality research!