They aim to provide the missing evidence so that doctors can introduce affordable and simple routine screening.
The project, led by sleep specialist Dr Catherine Hill, is funded by children’s charity Action Medical Research. It is hoped that screening will improve diagnosis so more children can benefit from early treatment for the condition that can have serious consequences.
Around 750 babies are born with Down syndrome each year in the UK1 and estimates suggest up to three quarters of them will suffer from a breathing disorder called obstructive sleep apnoea (OSA). OSA disturbs sleep and can lead to problems with growth, learning and behaviour.2-5 The condition can also put extra strain on the hearts of children with Down syndrome, around 50 per cent of whom are born with heart problems.6
Typically the children with OSA stop breathing for a few seconds at a time during their sleep. This happens several times a night and when breathing starts again, the children may gulp for air. Each time this happens oxygen levels in their blood fall, which can be harmful.
“If untreated, OSA can affect the children’s health and their quality of life. At the most extreme, children may fail to grow as quickly as expected. More commonly, OSA affects children’s ability to pay attention, their learning, behaviour and school performance,” says Dr Hill.
“Unfortunately, these effects may be overlooked and assumed to be part of living with Down syndrome.”
Two screening tests will be evaluated to see if they can be used alone, or in combination, to identify children with Down syndrome who have OSA. These tests are a sleep questionnaire and pulse oximeters (small devices that measure oxygen levels in the blood, which can be attached to a child’s toe during sleep).
Hospitals in Southampton, Sheffield and London plan to recruit a total of 180 children with Down syndrome aged six months to six years to take part in this study.
Notes for editors
Case study: Jack’s story
Jack, now seven years old, was born with Down syndrome 10 weeks early, weighing just 3lb 5oz.
He spent the first eight weeks of his life in the neonatal unit of the Princess Anne Hospital in Southampton. Registered partially sighted, he also has severe learning difficulties. He was born with two holes in his heart that eventually closed, for which he was on medication for a year. Now aged seven he attends the local special educational needs school.
When Jack was nine weeks old, his parents noticed that his breathing was noisy and that he snored. They were also worried as his chest looked quite collapsed. Little did they know that these were the first signs of a serious breathing disorder which would disrupt all of their lives so severely over the next two years.
Jack was in and out of hospital and things reached a critical point where he was really struggling to breathe at night.
His mum Jo remembers: “I would go to bed when my husband got in from work, then get up again and sit with Jack once my husband Scott went to bed. It was very hard for us as a family.”
Finally, after two distressing years, Jack’s parents discovered why he was desperately struggling to breathe. He was diagnosed with obstructive sleep apnoea (OSA). Children with OSA stop breathing for a few seconds at a time during their sleep and then start breathing again with a rapid gulping for air.
OSA can be treated but it’s not always recognised and families simply try to cope with the distress and disruption the sleepless nights cause; assuming it is part of living with Down syndrome.
Following Jack’s diagnosis he had his tonsils and adenoids removed to treat the problem. Since then he gets a full night’s sleep, most nights. And his better quality of sleep has had a significant, positive impact on his learning ability.
Jo says: “I wish there had been better screening for OSA as it would have saved us having to go through a really scary time, which I wouldn’t wish anyone else to go through.”