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

A marker that could help identify babies at higher risk for sudden infant death syndrome (SIDS) has been discovered by researchers in Sydney.

The study by The Children’s Hospital Westmead confirmed what had long been suspected – that SIDS victims were unable to wake up – but went further to explain why.

The enzyme butyrylcholinesterase (BChE) plays a major role in the “brain wakefulness pathway” and has been found at “significantly lower” levels in babies who die of SIDS.

“Babies have a very powerful mechanism for letting us know when they’re not happy,” said lead researcher and honorary researcher Dr. Carmel Harrington.

“Usually if a baby is faced with a life-threatening situation, such as difficulty breathing while sleeping because they’re on their stomach, they’ll wake up and cry.

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

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

The Children’s Hospital says the death rate from SIDS remains high.(AAP: April Fonti )

Public health campaigns focusing on safe sleep, overheating, and maternal 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 this perception that SIDS is no longer a problem or the problem can be solved if all babies have the right sleeping conditions, but two children still die of SIDS in Australia every week,” the professor said. Karen Waters, head of the SIDS and Sleep Apnea Research Group at Children’s Hospital.

It is hoped that this discovery may lead to the development of a screening test in a few years.

Hailed as a “game changer” for “every parent’s worst nightmare”, the discovery of BChE also provides answers for parents, like Dr Harrington, whose healthy babies died “under their watch”.

“My son, Damien, died suddenly and unexpectedly one night. It took me about two years before I could really catch my breath, and at that point I thought I really wanted to know why. He was dead.

“No one could tell me. They just said it was a tragedy. But it was a tragedy that didn’t fit my scientific brain.”

It was 29 years ago.

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

The study, published in The Lancet, analyzed dried blood spots collected as part of the newborn screening program.

a young boy smiling and wearing a cap
After his son’s death, Dr. Harrington devoted his life to SIDS research.(Provided: NSW Health)

Blood was analyzed after deaths from SIDS and other causes, and each was compared to 10 surviving infants.

Attention will now shift to using the results to develop targeted interventions.

“It’s the gift I feel I got for Mother’s Day because it’s a really special time for me, that it’s Mother’s Day,” Dr Harrington said.

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

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