Sydney researchers find enzyme marker to detect babies at higher risk of SIDS

Researchers in Sydney have discovered a marker that could help identify babies at higher risk of sudden infant death syndrome (SIDS).

The research from The Children’s Hospital Westmead confirmed what had long been suspected – that SIDS victims were unable to wake themselves up – but it took it a step further by providing the why.

The enzyme butyrylcholinesterase (BChE) plays an important role in the “brain revival pathway” and has been found at “significantly lower” levels in infants dying from SIDS.

“Babies have a very powerful mechanism for letting us know when they are unhappy,” said lead researcher and Honorary Research Fellow Dr Carmel Harrington.

“Usually, when a baby is faced with a life-threatening situation, such as breathing difficulties during sleep because they are lying on their stomach, they will wake up and cry out.

“What this research shows is that some babies don’t have the same robust arousal response.

“Now that we know BChE is involved, we can begin to change the outcome for these babies and make SIDS a thing of the past.”

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The children’s hospital says the number of deaths from cot death remains high.AAP: April Fonti

Public health campaigns targeting safe sleeping, maternal overheating and smoking during a baby’s first three months have reduced the incidence of SIDS.

However, the children’s hospital says death rates remain high.

“There is a perception that SIDS is no longer a problem or that the problem can be solved if all babies have the right sleeping conditions, but two children still die every week from SIDS in Australia,” said Professor Karen Waters, the head of the study. Children’s Hospital Sudden Infant Death Syndrome and Sleep Apnea Research Group.

It is hoped that the finding could lead to the development of a screening test in a few years.

Hailed as a “game-changer” of “every parent’s worst nightmare,” BChE’s discovery also offers answers to parents, such as Dr. Harrington, whose healthy babies died “under their care”.

“My son, Damien, died suddenly and unexpectedly one night. It took me about two years to really breathe again, and at that point I thought I actually wanted to find out why he died.

‘No one could tell me. They just said it was a tragedy. But it was a tragedy that didn’t sit well with my scientific brain.”

That was 29 years ago.

Since then, Dr. Harrington has devoted her life to finding answers and funding, which has also involved setting up the crowdfunding campaign Damien’s Legacy in honor of her “beautiful little boy”.

The study, published in The Lancet, analyzed dried blood spots taken as part of the Newborn Screening Program.

a young boy smiling and wearing a cap
After the death of her son, Dr. Harrington devoted her life to SIDS research.Supplied: NSW Health

The blood was analyzed after SIDS deaths and other causes, and each was compared to 10 surviving babies.

The focus is now on using the findings to develop targeted interventions.

“This is the gift I got for Mother’s Day because the timing of this is very special to me, that it comes on Mother’s Day,” said Dr. Harrington.

“This gives us a focus for our future research. So there’s still a lot to do. We need to understand the system better… We know what to do. It’s just getting the funding for it.”

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