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Cot death 'world first' breakthrough could help save babies most at risk of dying

Scientists could be one step closer to ending the heartache of cot death after a breakthrough in spotting those babies most at risk. Researchers say they have found a way of identifying those babies most vulnerable to Sudden Infant Death Syndrome (SIDS) while they are still alive.

It is hoped their discovery could help save lives of those babies most likely to fall victim to the heartbreaking condition which claims the lives of about 200 children in the United Kingdom every year. According to the research carried out in Australia it appears babies who died of SIDS had lower levels of an enzyme which helps people wake from sleep.

Dr Carmel Harrington, who lost her own child to SIDS 29 years ago, and led the study said: "Babies have a very powerful mechanism to let us know when they are not happy. Usually, if a baby is confronted with a life-threatening situation, such as difficulty breathing during sleep because they are on their tummies, they will arouse and cry out. What this research shows is that some babies don’t have this same robust arousal response,”

The study, published by The Lancet’s eBioMedicine, was carried out by researchers from The Children's Hospital at Westmead in Australia. It analysed activity of a chemical marker, Butyrylcholinesterase (BChE), in 722 Dried Blood Spots taken at birth as part of the Newborn Screening Program, using only samples parents approved for use in de-identified research.

BChE was measured in both SIDS and infants dying from other causes and each compared to 10 surviving infants with the same date of birth and gender. The study found BChE levels were significantly lower in babies who subsequently died of SIDS compared to living controls and other infant deaths.

BChE plays a major role in the brain’s arousal pathway and researchers believe its deficiency likely indicates an arousal deficit, which reduces an infant’s ability to wake or respond to the external environment, causing vulnerability to SIDS. Dr Harrington says the findings are game-changing.

She said: "This has long been thought to be the case, but up to now we didn’t know what was causing the lack of arousal. Now that we know that BChE is involved we can begin to change the outcome for these babies and make SIDS a thing of the past.”

SIDS – sometimes known as "cot death" – is the sudden, unexpected and unexplained death of an apparently healthy baby. According to the NHS in the UK, around 200 babies die suddenly and unexpectedly every year.

Most deaths happen during the first 6 months of a baby's life. Infants born prematurely or with a low birthweight are at greater risk. SIDS also tends to be slightly more common in baby boys. SIDS usually occurs when a baby is asleep, although it can occasionally happen while they're awake.

The incidence of SIDS has been more than halved in recent years due to public health campaigns addressing the known major risk factors of prone sleeping, maternal smoking and overheating. However, the rate of SIDS remains high, contributing to almost 50 per cent of all post-neonatal deaths in Western countries, according to the Australian report.

After losing her son, Damien, to SIDS, Dr Harrington has dedicated her career to finding answers for the condition, supporting much of her research through her crowd-funding campaign, Damien's Legacy. She says these results not only offer hope for the future, but answers for the past.

“An apparently healthy baby going to sleep and not waking up is every parent’s nightmare and until now there was absolutely no way of knowing which infant would succumb. But that’s not the case anymore.

“This discovery has opened up the possibility for intervention and finally gives answers to parents who have lost their children so tragically. These families can now live with the knowledge that this was not their fault,” said Dr Harrington.

The next steps for researchers is to begin looking at introducing the BChE biomarker into newborn screening and develop specific interventions to address the enzyme deficiency. It is expected this will take around five years to complete.

Dr Harrington added: “This discovery changes the narrative around SIDS and is the start of a very exciting journey ahead. We are going to be able to work with babies while they are living and make sure they keep living."

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