Why do completely healthy children die suddenly in their sleep?

 No one could explain why her son Damien died so suddenly to Dr. Carmel Harrington.  The tragedy occurred 29 years ago, when the biochemist-turned-lawyer, who is now the mother of three children, was working as a lawyer.

Photo by Dominika Roseclay: Pexel.com

"No one could tell me what had happened. Everyone told me it was a tragedy. "However, my scientific mind couldn't come up with an explanation for this tragedy," she explained.

Death in a dream

Three years later, the story repeats itself: her close friend's child dies unexpectedly for no apparent reason. Dr. Harrington then decided to resume his search for the cause of Sudden Infant Death Syndrome. The biochemist issued a call for collective fundraising to help fund her research.

Dr. Harrington and a team from Sydney Pediatric Hospital believe they have discovered the cause of children's sudden deaths. A specific enzyme blocks the brain in infants and prevents rescue shock during sleep, according to their findings, which were published in the specialized publication "The Lancet eBioMedicine."

Infants die suddenly and without warning, most often while sleeping. Researchers believe the syndrome affects children who have a defect in the awakening mechanism, which ensures that the baby wakes up when his breathing stops. Everyone's natural management and control systems prevent them from stopping breathing. These systems constantly monitor the oxygen level in the blood and react if it falls below a certain threshold. As a result, they protect us from low oxygen saturation. When the brain detects high levels of carbon dioxide in the blood, such as when we are wrapped in a blanket and breathing under the covers, the defense mechanism kicks in and we wake up.

This waking mechanism fails in children who die suddenly, but not because of a genetic defect, but because an enzyme prevents it from working, according to Dr. Harrington's team. They examined samples taken at birth from more than 60 infants as part of preventive examinations. Between the ages of one week and two years, all of these children died of sudden death.

The reason

Researchers found that the activity of the enzyme butyrylcholinesterase (BChE) in babies who died suddenly was significantly lower than in other infants when comparing these samples to other healthy children. Because this enzyme is involved in the transmission of information in the brain, researchers believe there is a link between low levels of the enzyme and sudden infant death while sleeping. Furthermore, low butyrylcholinesterase levels can cause apnea, or sleep apnea.

If additional research confirms that BChE deficiency is the cause of sudden infant death, it could save many lives in the future.

To that end, a research team led by Dr. Harrington intends to create a special screening test that will detect the risk of sudden infant death early on.


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