‘World first’ breakthrough in sudden death could help save babies most at risk of dying

Scientists may be a step closer to ending the anguish of sudden death after a breakthrough in detecting babies most at risk. Researchers say they have found a way to identify babies most vulnerable to sudden infant death syndrome (SIDS) while they are still alive.

It is hoped their discovery could help save the lives of babies who are most likely to fall victim to the harrowing condition that claims the lives of around 200 children in the UK each year. Based on research carried out in Australia, it appears that babies who died of SIDS had lower levels of an enzyme that helps people wake up from sleep.

Dr Carmel Harrington, who lost her own son to SIDS 29 years ago and led the study, said: “Babies have a very powerful mechanism for letting us know when they’re not happy. Usually if a baby is facing a life-threatening situation, like difficulty breathing during sleep because they’re on their stomachs, they’ll wake up and cry. 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 conducted by researchers at Children’s Hospital at Westmead in Australia. analyzed the 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 approved by parents for use in anonymous research.

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

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

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

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

Most deaths occur during the first 6 months of a baby’s life. Premature or low birth weight babies are at higher risk. SIDS also tends to be a little more common in baby boys. SIDS usually occurs when a baby is asleep, although it can occasionally occur while the baby is awake.

The incidence of SIDS has more than halved in recent years due to public health campaigns that address the major known risk factors of stomach sleeping, maternal smoking, and overheating. However, the SIDS rate remains high and contributes to almost 50 percent 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 crowdfunding campaign, Damien’s Legacy. She says that these results not only offer hope for the future, but also answers for the past.

“A seemingly healthy baby who falls asleep and doesn’t wake up is every parent’s nightmare and until now there was no way of knowing which baby would succumb. But that is no longer the case.

“This discovery has opened up the possibility of 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 are to begin looking at introducing the BChE biomarker into newborn screening and developing specific interventions to address enzyme deficiency. This is expected to take around five years to complete.

Dr Harrington added: “This discovery changes the narrative about SIDS and is the start of a very exciting journey ahead. We’re going to be able to work with babies while they’re alive and make sure they stay alive.”

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