SIDS breakthrough? Possible sudden infant death syndrome biomarker identified

Babies at risk for sudden infant death syndrome (SIDS) could be identified through a biochemical marker, a new study published in The Lancet’s eBioMedicine finds.

SIDS is the unexplained death of a seemingly healthy baby less than a year old, typically during sleep, according to the Mayo Clinic. The CDC reports SIDS accounted for 37% of infant deaths in the United States in 2019. 

Researchers investigating the cause of SIDS at the Children’s Hospital at Westmead (CHW) in Australia said they identified the first biochemical marker that could help detect babies more at risk of sudden infant death syndrome while they are still alive.

Dr. Carmel Harrington, an honorary research fellow who led the study, said its findings were game-changing. Harrington said the study provided an explanation for SIDS and hope for prevention of deaths associated with this mysterious condition.

“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. We have found the first marker to indicate vulnerability prior to death,” Harrington said in a news release. 

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According to the study, the Australian researchers analyzed levels of a specific enzyme called butyrylcholinesterase (BChE), in 722 dried blood spots (DBS) taken at birth as part of a newborn screening program. They measured levels of BChE in infants dying from SIDS and from other causes, each compared to 10 surviving infants with the same date of birth and gender.

The investigators found lower levels of BChE in babies who died from SIDS compared to living control groups of infants and other non-SIDS-related infant deaths, according to the published report. 

“We conclude that a previously unidentified cholinergic deficit, identifiable by abnormal -BChEsa, is present at birth in SIDS babies and represents a measurable, specific vulnerability prior to their death,” the researchers stated.

The SIDS study could move investigators closer to solving the health mystery. 
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The researchers explained that BChE plays a vital role in the brain’s arousal pathway. They further explained that a deficiency in BChE likely suggests an arousal deficit in babies, which would reduce their abilities to wake or respond to the external environment, making them susceptible to SIDS.

 “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,” Harrington said.

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A doctor noted the study’s sample size was limited.
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Dr. Matthew Harris, an emergency medicine pediatrician at Cohen Children’s Medical Center/ Northwell Health on Long Island, New York, was not involved with the study but told Fox News, “The findings of the study are interesting and important. While the sample size is limited, the study seems to indicate that lower levels of this enzyme are associated with a higher risk for sudden infant death syndrome. Importantly, this might present an opportunity for both earlier screening for risk factors during the perinatal period, and might offer scientists and physicians an opportunity to discover an intervention.” 

Harris added, “Currently, we screen for dozens of metabolic disorders as part of the newborn screening process, and if this proves to be a real association, this may add to the growing list of disorders we can detect early and possibly prevent the progression to severe disease.”

Harrington, who not only led the study but also experienced the loss of her own baby to SIDS nearly three decades ago, said in the news release that until now, health experts were not aware of what caused the lack of arousal in infants. “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.”