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Butyrylcholinesterase is a potential biomarker for Sudden Infant Death Syndrome
- dzhiurgis 4y agoI read about this here few days ago and didn’t really knew it was kinda like sleep apnea - https://www.rnz.co.nz/news/world/466697/research-breakthrough-to-help-detect-babies-at-higher-risk-of-sudden-infant-death-syndrome https://www.rnz.co.nz/news/world/466697/research-breakthroug...
- twoxproblematic 4y ago
- Invictus0 4y agoByoo-ter-ull (as in hull)-call-in-est-er-aze
- rich_sasha 4y agoFascinating. SIDS is... so strange. Can someone comment whether this is a significant result, vs minor contributing factor? I can’t really interpret the results... there is a significant coef on (quantity of something in blood) in a logistic regression... how big is the residual?
- flatiron 4y agoI am not a doctor. SIDS seems to be a catch all for a lot of things. Putting babies on their back, removing objects and bumpers from the crib, etc did reduce SIDS but didn’t eliminate it. This may be a major chunk of what is still considered SIDS but is not 100% of what is considered SIDS
- petercooper 4y agoI'm also very much not a doctor, but I read a lot of medical texts for fun and I have a naive interpretation to float out there (that hopefully someone in the know can correct or refute!) The paper talks about "cholinergic deficit" (a situation that is also common in dementia sufferers). The parasympathetic nervous system is heavily reliant on cholinergic agents which is why if you take medication that's anticholinergic (including many antihistamines like promethazine) it tends to dull the senses, send people to sleep, make it harder to wake up, etc. (This is what a lot of those "sleep aids" you find in US airports are doing at a low level.) My layman's attempt at jumping to a conclusion, then, is that death is not caused merely by cholinergic deficit, but that if someone has such a deficit and is harder to self-rouse, asphyxiation during sleep becomes somewhat more likely?
- abcc8 4y agoNot a physician either. This is an interesting result and is deserving of being followed up. That being said, there are many acknowledged causes of SIDS so this biomarker is unlikely to end up being predictive (or correlated) with all causes of SIDS. As has been mentioned elsewhere in the tread, suffocation on objects within the crib was responsible for at least some cases. What is interesting to me is that this is a biochemical marker and biochemical disorders are known causes of SIDS. Newborn screening, which varies from state to state, can catch many of these disorders. This result is interesting because it may lead to other studies that identify other pathways/enzymes that represent markers or causes of less common causes of SIDS. MCAD deficiency, the most common inborn error in fatty acid oxidation, is a biochemical disorder that is one of the more common causes of SIDS. The infants simply run out of easily available fuel for their metabolism if untreated and can die during fasting (i.e. in their cot in the middle of the night). Giving starch or other complex carbs before bedtime is one of several treatments for this disease, with the overall goal of treatment to prevent the individual from entering a fasting state, as that is when they metabolically decompensate.
- roguecoder 4y agoThis didn't establish a causal mechanism or even whether this particular enzyme is a contributing factor. It looked at an enzyme also associated with disfunction of the autonomic nervous system & finding that it is associated with SIDs deaths, but not other deaths. This is additional evidence supporting a hypothesis advanced in the last decade associating SIDs deaths with a reflex that causes infants to stop breathing instead of try to breath faster when they aren't getting enough oxygen. It doesn't establish much on its own, but it could enable screening for at-risk children, and eventually enable interventions that address the root cause. (Current interventions are mostly about attempting to ensure infants never experience a drop in oxygen that could trigger that reflex, which can never reduce the risk to zero.)
- niemandhier 4y agoSensible, peer reviewed science, funded by a crowd sourcing campaign. Spend a moment to click on the link to the funding campaign, lots of parents that lost a child there. I literally started crying, when I read the comments of the donating families,
- im3w1l 4y agoOne device I was familiarized with because of Covid was the pulse oximeter, which measures the oxygen in the blood. I was thinking if you made it wearable and hooked it up to an alarm, it could maybe avert disaster. Turns out they already exist.
- CrazyStat 4y agoYeah, we got one when our first child was born. A little sock with a pulse oximeter that charged via micro usb, wireless base station, and phone app.
- adrr 4y agoThere’s multiple devices to detect SIDS. They have socks that act as oximeters, they have a camera to detect breathing, and they have sensors that sit under the crib pad that can detect the small movements of the baby breathing. Also if you add a fan to the room and keep it on while the baby is sleeping, it reduces SIDS by almost 80%. https://www.nationwidechildrens.org/family-resources-education/family-resources-library/sleeptime-increase-air-circulation-to-lower-sids-risk https://www.nationwidechildrens.org/family-resources-educati...
- idiotsecant 4y ago>Also if you add a fan to the room and keep it on while the baby is sleeping, it reduces SIDS by almost 80%. Even assuming that this very small and self-reported study is accurate (which is doubtful itself) making a causative link here seems wildly unreasonable. Unless you can suggest a mechanism I think it's much more likely that there is some link between people who use fans and something related to SIDs.
- gamblor956 4y agoThey suggest a causative link in the article: carbon dioxide concentrations near the infant's nose and mouth which can cause suffocation.
- 4y ago
- jlbbellefeuille 4y agoIsn’t this correlation? Could this bio marker simply be caused by being born into poverty to a mother who smokes and drinks for example? From the Mayo Clinic “ Risk factors Although sudden infant death syndrome can strike any infant, researchers have identified several factors that might increase a baby's risk. They include: Sex. Boys are slightly more likely to die of SIDS. Age. Infants are most vulnerable between the second and fourth months of life. Race. For reasons that aren't well-understood, nonwhite infants are more likely to develop SIDS. Family history. Babies who've had siblings or cousins die of SIDS are at higher risk of SIDS. Secondhand smoke. Babies who live with smokers have a higher risk of SIDS. Being premature. Both being born early and having a low birth weight increase your baby's chances of SIDS. Maternal risk factors During pregnancy, the mother also affects her baby's risk of SIDS, especially if she: Is younger than 20 Smokes cigarettes Uses drugs or alcohol Has inadequate prenatal care” https://www.mayoclinic.org/diseases-conditions/sudden-infant-death-syndrome/symptoms-causes/syc-20352800 https://www.mayoclinic.org/diseases-conditions/sudden-infant...
- im3w1l 4y agoWell the authors have at least proposed a plausible mechanism that B-ase is important for arousal so they are detecting that the baby is less able to rouse in response to emergencies.
- roguecoder 4y agoDo you have any reason to think this enzyme is correlated with something else? Because the paper has a plausible causal mechanism for how it contributes to the auto-inhibition of Kölliker–Fuse nucleus functionality that is thought to be responsible for most cases of SIDs.
- Khelavaster 4y agoYeah, it's correlated with sucrase-isomaltase and chromosome 3 transcription factors..
- godmode2019 4y agoIt's well known that many 'SIDS' are parents killing their children. Its so common in my country that a murder investigation is conducted each time it happens Those factors you mentioned are all risk factors of general family violence. Our country has parental classes a lot of it was dealing with the stress of having a child while talking about SIDS and talking about how you don't want it to happen because you will be investigated for murder. We even had public service campaigns, don't shake a baby another about baby crying in a cot and a mother looking like she is about to loose it, then a message to get help. Another about, don't hold a babies mouth ect There is even a difference in methods. For males its blunt force trauma, for mothers its suffocation. From memory their is a large difference between unplanned child and planned child. I think my country is realistic about addressing these issues and not hiding behind 'risk factors'
- bigdict 4y agoI always thought that SIDS stands for "parents likely accidentally killed their child through negligence or error, and a prison sentence seems too harsh". So we make it a medical condition instead of a crime.
- smiddereens 4y agoWould a convincing medical explanation change your opinion?
- bigdict 4y agoYes.
- mcphage 4y agoThat's both cruel and incorrect.
- bigdict 4y agoIt's the opposite of cruel, it's merciful to most likely first time parents who make an inadvertent (fatal) mistake. And why would that be incorrect?
- SemanticStrengh 4y agoit's cruel because it's only partially true, and show no justice for the innocent parent victims. It is merciful for the subset though.
- dylan604 4y agoOr an angry god releasing vengence on the first born. We can make things up all day long. Doesn't really help things along though.
- itqwertz 4y agoI do wonder how many of those SIDS cases are really just a woman suffering from postpartum depression smothering her newborn because she is no longer receiving the full amount of attention she received when pregnant.
- mrtri 4y ago[dead]
- colechristensen 4y agoI thought SIDS had been debunked as more ordinary suffocation aggravated by a few types of respiratory irritation or development issues combined with unsafe sleeping conditions. A dying child being so traumatic that reasons beyond the ordinary have been searched for quite hard without finding any real underlying condition beyond baby can’t breathe and is too small to wake and rearrange itself.
- bpodgursky 4y agoIt's really hard to tease out given the sensitivity of the issue but while the vast majority of SIDs deaths are environmental or situational (smoke, unsafe sleep, cushions, accidental parent suffocation, intentional parent suffocation...) afaik there does seem to be some low base rate of SIDs deaths which have no obvious explanation.
- kazinator 4y agoEven if a SIDS death takes place in such an environment, it has to be unexplained in order for that diagnosis to be applicable. > low base rate of SID[S] deaths which have no obvious explanation. All SIDS deaths have no obvious explanation; that is how SIDS is defined.
- clucas 4y agoDo you have any source for this? I didn't see anything to that effect on Wikipedia (which cites articles from NEJM and other reputable journals when discussing the phenomenon) or the Mayo Clinic's page. You (and others in this thread) are talking about this debunking as if it's common knowledge, but I'm not seeing it. Am I looking in the wrong places?
- colechristensen 4y agoHere's one https://safetosleep.nichd.nih.gov/activities/SIDS/progress https://safetosleep.nichd.nih.gov/activities/SIDS/progress The SIDS rate dropped from ~1.4 to ~0.5 per thousand with a pretty strong correlation to back-sleeping and a campaign to promote it, combined with shifting cause of death diagnoses to "accidental suffocation". If you can reduce the prevalence of a diagnosis by 65% by having babies sleep on their back, there's a good chance the cause of death in a good few of the remaining cases (and ones not prevented in the path) ought to be something like "suffocated while not sleeping on their back" instead of a mysterious illness. Even the linked paper quotes >The “triple risk model” hypothesises that SIDS deaths result from coincident occurrence of a vulnerable infant, a critical developmental period, and an exogenous stressor which if this is the model for SIDS should get real philosophical questioning as to the appropriateness of bundling this together into a syndrome instead of labeling the actual cause and trying to fix it specifically (as in, promoting back sleeping as it is a risk for infant suffocation) I don't want to vet individual claims of physicians to quote them, but there are many out there questioning the merits of SIDS as a diagnosis. There is, however, not a boss in charge of science who is going to stamp SIDS as "doesn't exist", and the diagnosis will likely stick around for a long time because of the social issues attached with the trauma and attempts to find non-blaming answers for why a child died.
- m463 4y agoI'm reminded of Robert X Cringely and his son who died in his lap from SIDS https://web.archive.org/web/20160311081124/https://www.pbs.org/cringely/pulpit/2002/pulpit_20020425_000431.html https://web.archive.org/web/20160311081124/https://www.pbs.o...
- wittyusername 4y agoGosh he's describing the Owlet which is an amazing device and I am glad exists and the FDA sure isn't
- sbelskie 4y agoWhy is FDA against the device? Honestly curious.
- roguecoder 4y agoThey didn't follow the laws that govern medical devices & were marketing it with claims they didn't have the support for: https://www.fda.gov/inspections-compliance-enforcement-and-criminal-investigations/warning-letters/owlet-baby-care-inc-616354-10052021 https://www.fda.gov/inspections-compliance-enforcement-and-c...
- MichaelZuo 4y ago"Since 2016, the FDA has corresponded with Owlet that the Owlet Smart Sock meets the definition of a device under the FD&C Act and does not fall under the compliance policy for low-risk products that promote a healthy lifestyle (General Wellness guidance)." Yikes it does seem that they were playing games with their marketing and stringing the FDA along.
- kazinator 4y agoI thought SIDS is basically a category for an unexplained deaths. If there is a clear cause of deaths, it's not SIDS. Someone edit the Wikipedia if it's wrong: "Sudden infant death syndrome (SIDS), also known as cot death or crib death, is the sudden unexplained death of a child of less than one year of age.[1] Diagnosis requires that the death remain unexplained even after a thorough autopsy and detailed death scene investigation." If you can explain any deaths diagnosed as SIDS, then they can no longer be diagnosed as SIDS; but all other unexplained deaths remain SIDS.
- roguecoder 4y agoWe have made recent progress in identifying the mechanism: basically, many babies don't respond to rising carbon dioxide levels in their lungs the way older people do. They don't start breathing faster, or flail around trying to get a breath. Instead, they stop breathing & then, unless someone notices, die. See, for example: https://www.frontiersin.org/articles/10.3389/fneur.2015.00220/full https://www.frontiersin.org/articles/10.3389/fneur.2015.0022... It's why a ceiling fan can help: it produces positive air pressure that makes the infant get more oxygen. It's also why sleeping in a bed with a parent who smokes is such a risk factor: in an infant, even a mild an allergic reaction to cigarette smoke can be fatal. It is still unexplained by any specific diagnosis, because it's actually pretty common for infants to have an over-developed dive reflex and not to respond to excess carbon monoxide. But we know why it happens now.
- sonotathrowaway 4y agoI wonder if the measurement of the over-developed dive reflex is capturing survivor bias.
- roguecoder 4y agoThat particular study was comparing infants who had died to age-matched controls, so it tragically doesn't have that particular issue.
- deleted 4y ago[deleted]
- importantbrian 4y agoI don't know why, but as a new parent SIDS scares me more than almost anything else. We follow all the recommended best practices - back sleeping, no bumpers, no lose blankets, no co-sleeping, etc. Intellectually, I know that if you follow the recommendations the risk of SIDS is lower than the risk of your infant dying in a car accident, and yet driving with him in the car does not worry me. But I worry about SIDS to the point that I find that I sometimes startle awake and need to check the bassinet to make sure everything is okay. Hopefully, research like this can lead to a way to screen babies for risk and come up with some sort of treatment option. So parents like me can have more peace of mind.
- touisteur 4y agoFirst 2 months I was up most nights coding the night away, with my twin baby girls asleep on my lap against my torso. I'd just check they were breathing all the time. Though it was probably overkill I can't think of that time as anything else than one of the best moments of my life.
- importantbrian 4y agoGlad to know I'm not the only one. I'm not quite as productive as you though. I tend to watch Netflix, but lately I've been going through the fast.ai videos. I have a hard time getting him situated in a way that lets me use my laptop while he sleeps.
- touisteur 4y agoYeah writing a compiler was the only thing that would keep me awake all night every night and with less than 4 hours sleep (still had to help my very tired and bruised spouse - episiotomy sucks but breastfeeding twins is just devastatingly tiring - lost all the pregnancy weight in weeks, had to up food intake) keeping all the moving things in my head, making small progress, alternated with some learning (formal proof). I struggled for some time to keep them static and my hands free and after some time we found a great position that we would slip into every night. It's around that time I realized that most things with kids are about patience, trying gently and giving them opportunity to help/do (even in their sleep ;-)). I hope you'll keep enjoying these nights.
- ar-jan 4y ago> The “triple risk model” hypothesises that SIDS deaths result from coincident occurrence of a vulnerable infant, a critical developmental period, and an exogenous stressor. The finding of a correlation between low butyrylcholinesterase and SIDS looks consistent with an old proposal [0] for the "exogenous stressor": basiclly, fire retardents in PVC contain arsenic, phosphorus, and antimony compounds which are broken down by scopulariopsis brevicaulis, a fungus fond in babies' mucus. This generates toxic gases *which are cholinesterase inhibitors*. [0] Richardson, B.A. (1990) Cot mattress biodeterioration and SIDS. https://sci-hub.se/10.1016/0140-6736(90)90463-F https://sci-hub.se/10.1016/0140-6736(90)90463-F
- AnthonBerg 4y agoInteresting. Thank you!
- Khelavaster 4y agoGut butyrylcholinesterase is actually transcribed at the same locus as gut sucrase-isomaltase, which breaks down sucrose. At 3q26.1! It's on the opposite arm of chromosome 3 from oxytocin + thyroid hormone receptor beta + peroxisome proliferation associated receptor gamma (all around 3p24.3-3p25.3).
- mzs 4y agopaper itself 10.1016/j.ebiom.2022.104041 https://pubmed.ncbi.nlm.nih.gov/35533499/ https://pubmed.ncbi.nlm.nih.gov/35533499/
- compsciphd 4y agoI guess its nice that they have a biomarker, but the underlying reasoning has been known for decades. I was born in the late 70s and was diagnosed very quickly with infant sleep apnea, they might have not known why I suffered, but they knew to check for it. I was in the first group of babies to have a take home monitor. if I was born a handful of years earlier, I might have not survived. if I was born just a little bit earlier I'd have been in the hospital for an extended period of time. As it was, I was able to be taken home and every time put to sleep, my parents had to attach the electrodes (the pajamas I wore all had hold cut in them to allow that) that was supposed to wake me and my parents up whenever I stopped breathing for a set period of time. I was under the impression that sleep apnea was seriously reduced as a cause of SIDS because of this. (i.e. I was raised to believe that before I was born sleep apnea was the primary cause of death for infants who died of what was characterized as SIDS).