Tag Archives: SIDS

Health

The search for what causes SIDS

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When a healthy baby experiences either too little oxygen or too much carbon dioxide, explains Goldstein, their breathing halts (an “apneic pause”) before they start to gasp. “Those gasps, usually, in a healthy baby, will cause the heart rate to come up,” Goldstein says. “Those babies arouse, and arousal-related reflexes occur: they arch, they yawn, they turn, they wake up and cry, and that frees most babies from relatively modest obstructions and they survive.

“And the SIDs babies didn’t do that. They didn’t arouse and they stayed ‘uncoupled’ between these agonal gasps, which are driven by certain centres of the brain, and the cardiac response.”

That means a “vicious circle” where the feedback system doesn’t function, ending in a coma and death, says Rognum.

Why? In Norway, Rognum, together with paediatrician and neuroscientist Ola Didrik Saugstad, came up with the theory of the “fatal triangle”, which they defined as “a vulnerable period after birth, some genetic predisposition, and a trigger event”. In the US at around the same time, a team led by Goldstein and Hannah Kinney of Boston Children’s Hospital came up with a similar idea: the “triple risk model”.

It’s the latter label that caught on, and it’s this theory that is now the leading explanation among SIDS researchers. It gets to the heart of what scientists have suspected since at least the 1970s: SIDS is not caused by a single event, but several factors coming together. “There’s not just a single reason,” says Goldstein. “We put it more in the category of an expression of a rare undiagnosed disease where at least some of the time, at its initial presentation, it is incompatible with survival.”

Rognum had noticed that the highest-risk period for dying of SIDS, between the second and the fifth month after birth, is also a period where the immune system rapidly develops. “When something develops very rapidly, it’s also unstable,” he says. That’s the vulnerable period after birth. A trigger event could be a seasonal respiratory infection or sleeping prone, or both together – a pairing which increases the risk of SIDS 29-fold.

It is what the “predisposition” is, though, that may be the most enduring puzzle at the heart of SIDS. In recent years, however, this aspect too is becoming less of a mystery.

Researchers including Kinney have thought it might be an issue with the serotonergic system – the neurotransmitters centred in the brainstem that regulate a number of automatic processes, including sleep and breathing. Over the last 20 years, Kinney’s team have honed their hypothesis through multiple studies. An elevation of serotonin (5-HT) in the blood, in particular, is a biomarker for SIDS in around 30% of cases. And their findings have been corroborated by other teams. One study of autopsies, for example, found that serotonin levels were 26% lower in SIDS cases than in healthy infants – a biomarker discovered before Harrington’s finding.

Similarly, Rognum thought the genetic element could be due to varients, or polymorphisms, in the genes that make interleukins – which can be either anti-inflammatory, or pro-inflammatory molecules. They are usually produced in response to damage caused by infections or injuries, so variants in these genes can make this part of the immune response weaker or stronger than they should be.

“We found in the cerebral spinal fluid that the SIDS cases had significantly higher levels of interleukin-6. That’s the interleukin that gives us fever,” Rognum says. “Half of the SIDS cases have levels in the same range as children that died from meningitis and septicaemia, without having those diseases.”

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SIDS Is Still a Tragic Mystery, Despite Claims the ‘Cause’ Has Been Found

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Photo: Andrew Wong (Getty Images)

Last week, numerous headlines and social media posts declared that scientists had finally found the “cause” of Sudden Infant Death Syndrome (SIDS). Unfortunately, the reality is a bit more complicated. While the research could one day lead to important discoveries in predicting or treating this devastating syndrome, the findings aren’t as game-changing as they were originally portrayed—at least not yet.

The study was published earlier this month in the journal eBioMedicine. Researchers in Australia compared infants believed to have died of SIDS to control groups of living infants and infants who died of other causes, using blood samples taken from newborns as part of a screening program. SIDS is characterized by the unexplained death of a child younger than one, often while sleeping. The team looked at total levels of protein along with an enzyme called butyrylcholinesterase (BChE).

Among other things, BChE plays a role in regulating the autonomic nervous system, the nerves that unconsciously manage many bodily functions, including breathing and heart rate. Many researchers, these authors included, theorize that a dysfunction in the autonomic system could be an underlying cause of SIDS. If so, they further speculate, then lower-than-normal levels of BChE could be a sign—or even a possible trigger—of this dysfunction. And sure enough, the team found that children who died of SIDS had noticeably lower levels of BChE soon after birth than controls.

The first media headlines on the study heralded it as having pinpointed the “reason why infants die from SIDS.” Soon, Twitter users were describing the study as having found the true cause of SIDS. But while this discovery is important, its findings have been overhyped and mischaracterized, according to Jonathan Marron, a bioethicist at Harvard Medical School. Marron is not an expert in SIDS specifically, but he is also a clinical pediatrician and researcher.

“Science progresses incrementally. This study is an interesting and promising development for a devastating and poorly understood entity, SIDS. It is not, however, a magic bullet, nor can we say today that we are sure that we have found the cure for SIDS,” Marron told Gizmodo in an email.

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Every study comes with its limitations, and this one is no exception. For one, the sample size is very small, with only 26 infants who died from SIDS included in the study. SIDS is thankfully a rare condition, so the numbers are understandable, but it does mean that any findings should be viewed with added caution until they’re validated with further research. The study also only found an association between BChE levels and SIDS, not an established cause-and-effect relationship. Low BChE may very well be a signal or driving trigger of SIDS risk, but this research alone can’t tell us that. And even if this connection is every bit as crucial as we hope, it would still take years to take advantage of it, such as by finding a safe treatment that could increase BChE levels or otherwise prevent SIDS.

Marron notes that the authors of the study, while understandably excited about their work, were more cautious about the implications of their research than the early headlines and subsequent social media chatter surrounding it.

“I’m not sure of the cause for this—it could be an example of those writing the media reports not understanding the work and its limitations, but it might also be a representation of the fact that sensational stories and sensational headlines drive clicks,” Marron said. Later articles have since been more open-eyed about the study’s caveats, and at least one early article has since been updated as well.

It probably wasn’t just sensationalism or poor science literacy that drove the early coverage of this research, though. SIDS has historically involved plenty of stigmatization, with parents—particularly mothers—often being blamed for the deaths of their children. Other times, life-saving interventions like childhood vaccines have been scapegoated by antivaxxers and a supportive or gullible media. In many of the tweets discussing the research, there was a common theme among readers hoping that this stigmatization would finally die down, since the “true cause” turned out to be something completely out of anyone’s control.

“We are uncomfortable with uncertainty—maybe even more so when it comes to something so significant and heart-wrenching as a child’s death. Finding a single cause, a single answer, for this is then appealing,” Marron said. “It’s understandable that people would be thrilled to learn that scientists had found the cause for SIDS.”

Another compelling part of the narrative is that the study’s lead author, Carmel Harrington, lost her own infant to SIDS. And it was this tragic loss that motivated her research focus. (Gizmodo has reached out to Harrington for comment, but has not heard back as of yet.)

Harrington and her team’s work could still be as monumental as the early headlines proclaimed it to be, some day. Even if we do find a clear cause of SIDS, though, it wouldn’t necessarily change the advice that new parents routinely get on how to lower the risk of SIDS for their children. Importantly, research has shown that safe sleeping practices, such as keeping infants on their backs and avoiding overheating, can reduce the risk of SIDS. And following public health campaigns that emphasized these practices and other tips starting in the 1990s, annual rates of SIDS in the U.S. and elsewhere have continued to fall over time.

Of course, this is hardly the first piece of science to be overhyped by journalists or misunderstood by readers. While no one is ever fully immune to bias, this episode should remind people to keep a skeptical eye on splashy science news headlines and to make sure they’re getting the larger context of the research in question. Journalists should always be careful about what they’re putting out into the world, Marron notes.

“I hope that journalists will recognize the responsibility they have and the influence they can have on the public,” he said.



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Health

New Research Offers Clues as to Why Some Babies Die of SIDS

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Scientists in Australia have found that some babies at risk of sudden infant death syndrome, or SIDS, have low levels of an enzyme called butyrylcholinesterase (BChE) in their blood. Their study, published May 6 in the journal eBioMedicine, could pave the way for newborn screening and interventions if the results are corroborated by further research.

“It’s the first time we’ve ever had a potential biomarker for SIDS,” said Dr. Carmel Harrington, who led the research at the Children’s Hospital at Westmead, in Sydney, Australia.

Researchers have been trying to chip away at the biological underpinnings of the puzzling syndrome for decades. And while public health campaigns have drastically reduced the incidence of SIDS, it remains a leading cause of sudden and unexpected death in infants under the age of 1 in Western countries. In the United States, about 3,400 babies die suddenly and unexpectedly each year, according to the Centers for Disease Control and Prevention. This includes infants who die suddenly from a known cause, such as suffocation, as well as those who die without a clear cause, such as from SIDS. Nearly half of the sudden and unexpected infant death (SUID) cases in the U.S. are due to SIDS.

One of the reasons that SIDS remains so tragic and mysterious is because it is likely not caused by a single biological mechanism, but a combination of factors that come together in a perfect storm, said Dr. Thomas Keens, a pediatric pulmonologist at Children’s Hospital Los Angeles. Previous studies have pointed to low activity or damage in parts of infants’ brains that control heart rate, breathing and arousal from sleep, for instance, as well as to environmental stressors such as soft bedding or secondhand smoke.

“The thinking among researchers is that some babies die from SIDS because they don’t wake up in response to a dangerous situation when they’re asleep,” Dr. Keens said.

To test if there was something inherently different in SIDS babies, Dr. Harrington and her colleagues compared dried blood samples from the newborn heel prick test of 655 healthy babies, 26 babies who died from SIDS and 41 babies who died from another cause. They found that about nine out of ten babies who died of SIDS had significantly lower BChE levels than did the babies in the other two groups.

“I was just stunned,” said Dr. Harrington, who has been searching for clues and crowdfunding for her research for nearly 30 years, ever since she lost one of her own children to SIDS. “Parents of SIDS babies carry a huge amount guilt because essentially their child died on their watch. But what we’ve found with this study is that these infants are different from birth, the difference is hidden and nobody knew about it before now. So it’s not parents’ fault.”

The new findings add support to researchers’ hypothesis that babies who die from SIDS have problems with arousal, said Dr. Richard Goldstein, a pediatric palliative care specialist at Boston Children’s Hospital. BChE plays a role in the availability of important neurotransmitters in the brain’s arousal pathway. Low levels of the enzyme could indicate that the brain is not able to send out signals telling a baby to wake up and turn her head or gasp for breath. “But we need a lot more research before we can understand its actual significance,” Dr. Goldstein said.

While the study identifies an important chemical marker in a small group of infants, it is too soon to say if widespread testing for BChE will be helpful.

For one, scientists and doctors do not know what a “normal” level of the enzyme looks like. And because the Australian researchers did not have access to fresh blood samples for BChE, they did not measure absolute levels of the enzyme. There was also overlap between the infants. Some of the babies who died from SIDS had BChE levels within the same range as the babies who did not die.

“If you’re going to test every baby who’s born, you want the results to stand out as abnormal only for babies who are at very high risk,” Dr. Keens said. Even if further studies helped fine-tune the test for BChE to accurately distinguish between babies who might die from SIDS and those who might go on to live healthy lives, doctors and parents would still be faced with a dilemma: What to do next? Currently, there is no intervention or treatment for low BChE levels.

Much of the advice for preventing SIDS remains the same, Dr. Keens said. Make sure that you follow safe sleep recommendations like laying your baby down on her back — both at nap time and at night. Remove loose sheets, blankets, pillows, bumper pads and soft toys from your baby’s sleep area. And consider keeping your baby in the same room as you at night for at least six months, or, ideally, until your baby turns a year old.

The American Academy of Pediatrics also recommends avoiding exposure to smoke, alcohol and illicit drugs during pregnancy; breastfeeding; immunizing routinely; and using a pacifier to reduce the risk of SIDS.

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Researchers Pinpoint Important Biomarker for SIDS – Updated

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Sudden infant death syndrome (SIDS) accounts for about 37% of sudden unexpected infant deaths a year in the U.S., and the cause of SIDS has remained largely unknown. On Saturday, researchers from The Children’s Hospital Westmead in Sydney released a study that has identified the first biochemical marker that could help detect babies more at risk of SIDS while they are alive.

SIDS refers to the unexplained deaths of infants under a year old, and it usually occurs while the child is sleeping. According to Mayo Clinic, many in the medical community suspected this phenomenon could be caused by a defect in the part of the brain that controls arousal from sleep and breathing. The theory was that if the infant stopped breathing during sleep, the defect would keep them from startling or waking up. 

The Sydney researchers were able to confirm this theory by analyzing dried blood samples taken from newborns who died from SIDS and other unknown causes. Each SIDS sample was then compared with blood taken from healthy babies. They found the activity of the enzyme butyrylcholinesterase (BChE) was significantly lower in babies who died of SIDS compared to living infants and other non-SIDS infant deaths. BChE plays a major role in the brain’s arousal pathway, explaining why SIDS typically occurs during sleep. 

Previously, parents were told SIDS could be prevented if they only took proper precautions: laying babies on their backs, not letting them overheat and keeping all toys and blankets out of the crib are a few of the most important preventative steps. Importantly, they still are, as there is still no test for this biomarker. 

But many children whose parents took every precaution still died from SIDS. These parents were left with immense guilt, wondering if they could have prevented their baby’s death.

Dr. Carmel Harrington, the lead researcher for the study, was one of these parents. Her son unexpectedly and suddenly died as an infant 29 years ago. In an interview with the Australian Broadcasting Corporation (ABC), Harrington explained what she was told about the cause of her child’s death. 

“Nobody could tell me. They just said it’s a tragedy. But it was a tragedy that didn’t sit well with my scientific brain.” 

Since then, she’s worked to find the cause of SIDS, both for herself and for the medical community as a whole. She went on to explain why this discovery is so important for parents whose babies suffered from SIDS. 

“These families can now live with the knowledge that this was not their fault,” she said.

In the study, the researchers wrote, “This finding represents the possibility for the identification of infants at risk for SIDS infants prior to death and opens new avenues for future research into specific interventions.” 

Now that this biomarker has been further confirmed, researchers can turn their attention to a solution. In the next few years, those in the medical community who have studied SIDS will likely work on a screening test to identify babies who are at risk for SIDS and hopefully prevent it altogether.

BioSpace would like to clarify that despite this breakthrough, it is still abundantly important that anyone caring for a baby should follow safe sleeping practices. Ie: laying them on their backs, not letting them overheat and keeping all toys and blankets out of the crib. We are in contact with Dr. Harrington and look forward to a more in-depth discussion on the potential implications of these findings. 

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Blood marker identified for babies at risk of SIDS hailed as ‘breakthrough’

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A newborn baby holds on a nurse’s finger at the maternity ward of the children hospital in Kabul, Afghanistan October 24, 2021. REUTERS/Jorge Silva/

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NEW YORK, May 13 (Reuters) – A team of Australian researchers have identified a biochemical marker in the blood that could help identify newborn babies at risk for sudden infant death syndrome (SIDS), a breakthrough they said creates an avenue to future tragedy-preventing interventions.

In their study, babies who died of SIDS had lower levels of an enzyme called butyrylcholinesterase (BChE) shortly after birth, the researchers said. BChE plays a major role in the brain’s arousal pathway, and low levels would reduce a sleeping infant’s ability to wake up or respond to its environment.

The findings are game changing and not only offer hope for the future, but answers for the past, study leader Dr. Carmel Harrington of The Children’s Hospital at Westmead in Australia said in a statement.

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“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,” Harrington said. “But that’s not the case anymore. We have found the first marker to indicate vulnerability prior to death.”

Using dried blood spots taken at birth as part of a newborn screening program, Harrington’s team compared BChE levels in 26 babies who later died of SIDS, 41 infants who died of other causes, and 655 surviving infants.

The fact that levels of the enzyme were significantly lower in the infants who subsequently died of SIDS suggests the SIDS babies were inherently vulnerable to dysfunction of the autonomic nervous system, which controls unconscious and involuntary functions in the body, the researchers said.

The Sydney Children’s Hospital Network in Australia called the discovery “a world-first breakthrough.”

A failure to wake up when appropriate “has long been considered a key component of an infant’s vulnerability” to SIDS, the research team said in The Lancet’s eBio Medicine.

SIDS is the unexplained death of an apparently healthy infant while asleep. Harrington lost her own child to SIDS 29 years ago and has dedicated her career to researching the condition, according to the statement.

Further research “needs to be undertaken with urgency” to determine whether routine measurement of BChE could potentially help prevent future SIDS deaths, the investigators said.

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Reporting by Nancy Lapid; Editing by Caroline Humer and Bill Berkrot

Our Standards: The Thomson Reuters Trust Principles.

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SIDS breakthrough? Possible sudden infant death syndrome biomarker identified

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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. 

Doctors are cheering a potential breakthrough in the mystery of sudden infant death syndrome (SIDS).
(iStock, File)

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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. 
(iStock, File)

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.
(iStock, File)

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.” 

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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.”

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