Published on May 6, 2022 in The Lancet’s comprehensive sub-journal “EbioMedicineIn a study in the journal , researchers found that in infants who later died from SIDS, the activity of a specific enzyme, butyrylcholinesterase (BChE), was significantly lower than in living controls and other infant deaths. .
The study analyzed BChE activity in 722 dried blood spots (DBS) taken at birth as part of a newborn screening program, using only samples approved by parents for non-identification studies. BCHE was measured in both SIDS and infants who died from other causes, and each infant was compared to 10 surviving infants of the same birth date and sex.
Sudden infant death syndrome (SIDS), commonly referred to as “cradle death,” refers to the sudden, unexplained death of a child under one year of age. SIDS usually occurs during sleep. Deaths often occurred between midnight and 9am, and there was usually no evidence of noise or struggle. SIDS remains the leading cause of infant death in Western countries, accounting for half of all postnatal deaths.
The researchers found that infants with lower levels of BChE had a much higher risk of dying from SIDS. BChE plays an important function in the brain’s arousal pathway, and the researchers believe its lack is likely to indicate a lack of arousal, which reduces infants’ ability to wake up or respond to the external environment, predisposing them to SIDS.
Study leader Dr Carmel Harrington, a CHW Emeritus Fellow, said the findings were a game-changer, offering not only hope for the future but answers for the past as well.
“An apparently healthy baby falling asleep and not waking up is every parent’s nightmare, and until now, we had absolutely no way of knowing which baby would succumb. But things are different now. We’ve discovered the first to show vulnerability before death. markers,” Dr Harrington said.
“Babies have a very powerful mechanism to let us know when they’re upset. Typically, if a baby experiences a life-threatening situation, such as difficulty breathing from lying on their stomach during sleep, they wake up and cry. Come out. What this study shows is that some babies don’t have this strong arousal response.”
“It has long been thought to be the case, but until now, we didn’t know what caused the lack of arousal. Now that we know that BChE is involved, we can start to change outcomes in these babies and make SIDS a thing of the past. “
Dr. Harrington, who lost her own child to SIDS 29 years ago, has been working on the disease, supporting much of her research through her crowdfunding campaign, Damien’s Legacy.
“This finding opens up the possibility of intervention and ultimately answers for parents who have unfortunately lost a child. These families can now know it wasn’t their fault,” said Dr. Harrington.
The overall incidence of SIDS has more than halved in recent years as public health campaigns address major known risk factors such as prone positioning, maternal smoking, and overheating. However, the incidence of SIDS in Western countries remains high, accounting for nearly 50% of all post-natal deaths in Western countries.
“There is a perception that SIDS is no longer a problem, or that the problem could be solved if all babies had the right sleep conditions, but in Australia two children are still dying from SIDS every week. “This finding provides a clear direction for our research as to what we can do to prevent it in the future,” said Professor Karen Waters, head of the SIDS and Sleep Apnea Research Group at CHW.
Currently, a “triple risk model” is used to explain the occurrence of SIDS, assuming that three factors need to occur simultaneously; vulnerable infants, critical developmental periods and exogenous stressors, however, until now, there has not been a way to identify these vulnerabilities baby.
The identification of a biochemical marker of BChE provides researchers with a clear future direction, allowing them to focus their attention on introducing this marker into newborn screening and developing specific interventions to address enzyme deficiencies.
The researchers expect the next phase of the study will take around five years to complete.
“This discovery changes the narrative around SIDS and is the start of a very exciting journey ahead. We will be able to work with babies while they are alive and ensure they continue to live,” said Dr Harrington.
