First potential SIDS biomarker identified

a new study has identified a biomarker that could one day be used to help babies at higher risk of sudden infant death syndrome (SIDS).

The study, conducted by a team from the Children’s Hospital of Westmead (CHW) in Australia, was published in: eBioMedicine

Half of Western infant deaths caused by SIDS

Sudden Infant Death Syndrome (SIDS) is defined as the death of an apparently healthy baby under one year of age while asleep. Cases of SIDS have halved in recent years after high-profile campaigns revealed some of the other risk factors for SIDS, including:

On their stomach or they sleep

Sharing the same bed as a parent

Overheating during sleep

Nevertheless, SIDS remains the cause of almost half of neonatal deaths in western countries, and biochemical signatures explaining the risk of SIDS in individual infants are lacking. The new study, led by CHW researcher dr. Carmel Harrington hopes to have changed that.

Harrington and team analyzed dried blood stains (DBS) taken during a newborn screening program, using samples whose parents had consented to analysis.

The study focused on an enzyme called butyrylcholinesterase (BChE). The enzyme has an important function in the arousal pathway, which regulates the brain’s level of alertness during wakefulness. The team analyzed BChE levels in samples from four different groups:

Infants who had died of SIDS (n=26)

Infants who died of non-SIDS causes (n=30)

Controls for the SIDS group – healthy infants matched for date of birth and gender (n=254)

Controls for the non-SIDS group – healthy infants matched for date of birth and sex (n = 291)

The SIDS group showed a significant decrease in BChE activity compared to matched controls, a finding not seen in non-SIDS deaths.

Decreased Vigilance

The team believes that the BChE deficiency could indicate a decreased ability to wake up in response to stressors in the external environment. Harrington noted in a press release: “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 usually wake up and cry out. What this research shows is that some babies don’t have the same have a powerful arousal response.”

Harrington, who tragically lost her own son Damien to SIDS nearly 30 years ago, said the finding pointed to a brighter future for babies at risk of SIDS. “It was long thought that this was the case, but until now we didn’t know what was causing the lack of excitement. Now that we know BChE is involved, we can start to change the outcome for these babies and make SIDS a thing of the past,” she said.

Nevertheless, the small sample size is an indicator that the research is still in its early stages and that parents are still encouraged to take steps to minimize environmental risk factors for SIDS. CHW’s Child Health Promotion Unit say that babies should be placed on their backs at night to sleep with their head and face uncovered. In addition, a baby’s household must be smoke-free.

The next step for the study is a five-year study incorporating the BChE biomarker into newborn screening. The team plans efforts to reduce the biochemical effects of the enzyme deficiency.

Harrington, who has crowdfunded much of her research through a campaign called Damien’s legacyconcluded: “This discovery changes the story of SIDS and is the start of a very exciting journey ahead. We will be able to work with babies while they are alive and make sure they live.”

Reference: Harrington CT, Hafid NA, Waters KA. Butyrylcholinesterase is a potential biomarker for Sudden Infant Death Syndrome. eBioMedicine† 2022;80:104041. bye: 10.1016/j.ebiom.2022.104041

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