A hormone may boost cognition in Down syndrome
scientificamerican.com
scientificamerican.com
My 9 year old daughter has Down's Syndrome, and this is the most exciting paper I've seen! I know we're a long, long way off any kind of treatment being available for people with Down's, but still, I can't help but feel some hope.
BTW, you can AMA about Down's here if you want!
https://www.ucsf.edu/news/2019/11/415946/down-syndrome-mouse...
As these 2 approaches are different, it would be interesting to see if there was a cumulative effect if both were performed.
Also the screen has a sensitivity of 95% with a positive test indicating > 1/300 chance in Down’s syndrome, so the screening is not nearly THAT bad
I was thinking more of false negatives than positives, but reading it back, there was no way for you to know that from what I wrote!
The test for our daughter came back negative (well, something like 3,000,000:1 chance of Down's), but she did actually have Down's. Later, talking with other parents of kids with Down's, multiple had had similar odds, some even crazier (and in a small country with <50k births each year).
To your question, prenatal screening is a thing, but maybe non-invasive techniques (that don’t risk miscarriage) are newer. I don’t know how widely recommended they are throughout the country (US) or world, but they were prescribed for our kiddo born San Francisco this year. They seem to stagger the tests, so that the less invasive ones are used at first, and then the more invasive procedures are recommended if there is information that would indicate an increased risk of whatever condition.
See for example: https://www.ucsfhealth.org/education/prenatal-testing-for-do...
Some might say that these tests are being over used… it’s very personal imo.
The NIPT can screen for the sex of the baby earlier than it can be detected on a scan, so many women elect to have it done.
The first trimester ultrasound is around 96% accurate at detection of down’s syndrome.
This is all to say: indeed they have non-invasive tests and they’re very accessible.
Theirs would be the false positive rate (FPR) or false negative rate (FNR), and yours would be an probability, which takes the FPR (or FNR) rate, the number of tests and the base incidence rate to arrive at 1/300, 1/5000.
For example, in Canada, 1/750 of live born babies has Down's [2].
There are about 400,000 births every year in Canada [3].
So, there are 400,000 / 750 = 500 kids with Down's born every year.
Assume the test has a FNR rate of 0, and a FPR of 5%.
400,000 * 0.05 + 500 = 20,500 children test positive
Odds of positive test indicating Down's (5% FPR): 500/20,500 = 2.4%
Not quite the 1/300, but as you said "soft marker", so maybe the FPR is higher for that, vs all the markers?
To get to 1/300, the FPR rate on the marker would need to be 37.5%?
The 1/5000 is (I believe) a change from a FPR rate to the FNR rate, since the second test is indicating that the disease _isn't_ present.
1/5000 would indicate a negative genetic test will miss one Down's diagnosis in a decade in Canada.
Interestingly, it looks like the FRP increases with age, with it being 4% at age 30 (combined ultrasound/blood test)? [1]
[1] https://pubmed.ncbi.nlm.nih.gov/11702835/
[2] https://www.canada.ca/en/public-health/services/publications...
[3] https://www.statista.com/statistics/443051/number-of-births-...
It's more expensive than the older, inaccurate screening test, so here in the UK it isn't routinely offered to parents, or even explained to them. It's offered by private clinics though.
I've wondered about modern education for children with Down's. My impression is that they currently show much greater cognitive development than what I remember from 50 years ago. I have assumed that this is due to improvements in special education. Can you say anything about this?
It's reckoned that a lot of these assumptions were down to hearing issues, which are highly prevalent in Down's - once we figured this out, and realised how easily fixed these issues were, things started to change, quickly.
Nowadays, we know people with Down's are capable of much more, though I must note there is a huge range of cognitive ability, and additional tuition and support will always be needed. Still, it's common now for kids with Down's to attend regular primary school, and some also attend regular high school.
edit: I love how this is getting downvoted on a site where most people are anti Apple CSAM reporting.
Don't have down's syndrome. Likely on the autism spectrum. Didn't notice any significant cognitive benefits.
In case anyone else is curious. It's not a drug you might consider taking off label as a nootropic. It messes with testosterone and estrogen and a load of other stuff.
I've tried most everything under the sun and used my body as a walking science lab. Most things don't have a noticeable effect, but there are a handful of things that do.
(Also, YMMV, personal chemistry)
As an aside, there are tomes of literature, research and arguments for and against the computational theory of mind. I don't think it's as clear cut to say that the brain is a computer, as physiologically it certainly doesn't work like a computer at all.
On the other hand, I've met plenty of people who believe the brain has "processing power" that's equivalent to literal CPUs.
For example, the definition of "compute" can vary greatly, which we can see here in the comments section versus what is usually considered computing when it comes to the computational theory of mind. Often regarding this topic, "computing" means symbol manipulation and representation a la Turing machines, whereas many in this comment section interpret "computing" as the action of taking input and producing output.
My point with the comment is that I'm no expert, and I'm not someone who has really thought about or tried to tackle this problem. There are plenty of people who have, though, and they can make more insightful, apt and convincing arguments that are worth looking into before accepting or dismissing the concept entirely.
It also gets into metaphysics, as some people believe that mind is not limited to the brain.
Notably, such examples wouldn't exist if computation was strictly a subset of thought, but that can be waved away by acknowledging that the brain has finite resources that it does its best to use sparingly. Also, brains definitely run algorithms with staggering numbers of variables, e.g. object recognition from noisy sense data.
And all the results about all computers being equivalent only work if they have access to infinite storage and power. That computation isn’t outside the set of all theoretical thoughts, it’s just outside the set of all ones in actually existing human brains that don’t have access to a pen and paper.
As to simulating a ball being thrown, that’s one thing that the brain already does. Visualization is a simulation.
Like if you're a bad shot you can't install an update to turn into a sniper. Of course, snipers do get to be that good by practicing enough, but I don't know if they visualize the target or do it with conscious math.
What’s important to realize is people don’t just picture the path a ball takes but also the feel as they make a throw. Predicting the path of a thrown ball to be able to catch it is a another sign of simulation, but combining that with a simulation of how a throw takes place is useful.
Pool is clear example of the brain doing physical simulation. The exact positions are unique, but people learn how to predict what will happen to figure out what’s reasonable to attempt.
However, given our current level of understanding of how the mind works, we can't say for sure that certain thoughts are algorithmic. For example, we don't know an algorithm by which new systems of axioms can be created, nor even a general algorithm for proving a theorem in a given system of axioms, beyond brute force searching. Given that human minds do these things relatively often, it's unlikely they are arriving at it by brute force search in the enormous domain of mathematical statements.
So, we can't say we've ruled out the possibility that the mind is using some unknown non-computational process for finding novel theorem proofs. Note that proof checking is algorithmic, only proof discovery is potentially not.
Now, to me extrapolating this to a non-computational theory of mind smells a lot like a God-of-the-gaps argument, so I don't buy it. But it is worth remembering the limits of what is actually proven to be computable.
I've taken this example somewhat directly from Turing's paper on computation - there, he bases the model of the Turing machine specifically on a mathematician doing rote mechanical calculation with a pen and paper (the machine state is their brain state, the tape is the notebook, the writing head is the pen, and the reading head is their eyes). However, non-rote calculations are arguably left out of the paper's claims (or at least most of them).
Much more famous arguments about non-computational theories of mind are, to me, much less convincing. The most famous is probably The Chinese Room, where the idea is that a man locked in a room receives a question on paper written in Chinese characters, and follows lookup tables and English instructions to return another paper written with Chinese characters, but can't really be said to understand Mandarin even if he is always returning the right answer for the question asked (or so the author claims). Another such famous argument is Mary's Room, where Mary is also locked in a room where nothing has the color red, but where she gets to rid everything that can be known about the physics and biology of the color red and its perception in the human brain (much more knowledge than we have today), but where she is assumed to still have a new experience once she leaves the room and actually sees red for the first time directly.
Saying the mind is somehow beyond quantifiable physics is equivalent to dualism.
So is there some animal brain, no matter how primitive, that we could in principle simulate? I think so. I think that is realistically within our capacity.
If your microprocessor is having floating-read problems because the voltage on the 5V/12V power lines is more like 2V/4V, then "more power" is exactly what it needs.
The brain is a bunch of chemicals floating around in salt water.
The equivalent of hooking up jumper cables would be adding a clump of neurons.
A chemical that washes over the entire system is more akin to giving the computer a clean/wash (not with water) when the computer has grime and dirt blocking various connections (/ neural pathways).
(This might not make a lot of sense...)
Thinking about Down's syndrome in today's world somehow doesn't 'fit', like existentially and culturally feels like a holdover from another era (except that in reality it's not)
Somehow a few days of Dall-E/diffusion posts in a row and it's jarring to 'go back' in time to 80s or whatever of worries about Downs--- rather than mRNA, autism, current medical zeitgeist.
stuff like this really makes me think about the twin-nuclei (atom and cell) problem/ idea of Eric Weinstein.
It indicates a weird unspoken tension, a tether between the last moments of old world and the first moments of a new world.
"The Twin Nuclei Era began in the space of four months in 1952-3 with the first test of the Teller-Ulam fusion device in early November of 1952 followed by the discovery of 3D structure of DNA in late February of 1953."
For over 70 years we've already have lived in a world reshaped around the tech of the atom bomb for a while, but because it's been slower going, we still don't know what a world reshaped around the tech of the cell will be.
And culturally we've mostly just avoided it like a giant dysfunctional family taboo that makes everyone tense. Barely any of our movies or cultural products have helped reckon with it seriously. Usually cultures grab onto an idea and go through an entire 4 seasons cycle/obsession with it, cross pollinating in multiple genres, recycling tropes, high and low brow versions, etc.
But somehow it feels like we jumped to the fun of AI and space instead.
One occasional Gattaca or an organ-harvesting clone sci-fi, very very few works of depth.
Like genetic engineering of individuals and populations is just too close and real and grimey to handle, too explosive. "Demographics is Destiny" as a saying has been haunting me since I read it, but there's so little to explore /dive into regarding visions of the future, fictional or non-fiction takes. (And hell, I feel we barely have a grip on basic anthropology of how our current society regarding works, power, elites, etc)
Everything feels on the cusp of a decade or so (cloning, crispr, ivf, stem cells, demographic planning of sex ratios, aging and healthspan stuff, surrogates, artificial wombs etc), but there's this huge silent inertia tension feeling of researchers working in the shadows before some nation officially shoots the starting gun starts the race and forces every society into a headlong rush towards the biomedical musical chairs/ the next balance of power.
We can test babies and avoid the disorder by making them eat special diet for a while. But not those who sadly experienced brain damages first.
Such treatment may hopefully help them too. But the action mechanism must be separate than this drug, I think?
The point you are missing is that people with disabilities are people. They deserve to live same as you, despite the challenges. Have some empathy.
Aside: I'd love to be a fly on the wall as you try to discuss your stance with a person with one more chromosome than you
Choosing not to have a child because of you are unable to safely raise it, is one thing. (can't afford to raise a child; mother is too young; rape victims)
Choosing not to have a child because it's genetic code doesn't fit your notion of good. Is another. (Downs; autism; gender; eye color)
(Tangentially, this is a question that supporters of unconditional access to abortion do not have a good answer for. If abortion is 100% legal, without exception, does that mean it’s OK to use it for female infanticide?)
Assuming tests were possible (which they might be), what would you think about an intensive government campaign to eliminate homosexual and trans people from the population?
But whatever you like to call it, I'm asking about the same kind of elimination campaign directed at other disadvantaged groups.
The difference is a personal choice versus a government campaign to influence peoples' choices with the goal of eliminate those classes of people the state has deemed "undesirable".
> Would people say it's bad if the rate of Down Syndrome decreased because mothers were younger?
Probably, if the change was due to the government trying to convince people older than 25 not to have children.
My opinion on the merits of an individual making personal choices about reproduction and medical treatment for themselves and their offspring was not offered.
And being gay doesn't cause brutal, head to toe, lifelong (albeit a short life) material suffering in the individuals, like most cases of Down Syndrome do. It's not just cognitive issues, if you're unaware.
That's fair, I was trying to frame it from the point of view of people who might disagree with it to answer OP's question. Might have come across a little strong, so we could call it a state sponsored eugenics programme, then. The systematic reduction or elimination from society a class of people deemed undesirable by the state through the funding of genetic tests and abortion services.
> And being gay doesn't cause brutal, head to toe, lifelong (albeit a short life) material suffering in the individuals, like most cases of Down Syndrome do. It's not just cognitive issues, if you're unaware.
I have known a number of people with downs syndrome who are very happy a lot of time time, and wonderful fun people too. And on the other hand, let's say trans people for example can suffer excruciating depression as well as physical suffering too. So my concern is valid.
If people with downs cross some certain threshold dreamed up by state bureaucrats that others do not, that does not give me much comfort. Where exactly are these arbitrary lines drawn, who decides them, how might they change? Pretty concerning if you ask me, and I'm not anti-abortion nor even anti-abortion for this reason.
Giving people information and freedom is one thing. Having the state encourage the abortion of classes of people it considers "undesirable" is quite another, IMO.
Second of all, there just isn't, and can't be, a right to be born. The hypothetical person who would turn out of if a fertilized egg is carried to term has no innate rights until they actually do get born (or, well, somewhere near - not trying to justify late term abortions or anything). At least, this is the case if you believe a right to voluntary abortion should exist at all.
Theoretically, I don't see anything unethical about aborting a fetus with some hypothetical gay gene, nor do I see anything unethical about aborting a fetus with a gene for black hair instead of blond.
In practice though, assuming the screening is not happening very early in the pregnancy, it would seem strange for expecting parents to throw away their excitement after a month of pregnancy because of such shallow reasons. I don't think the same strangeness applies though for more life-impacting conditions, like Down syndrome (or like severe non-verbal autism, if it could be screened for).
The fact that the born child would be a precious life that no one would have the right to attack or judge for their illnesses in no way reflects back in time to before they were a child.
This is all pretty subjective and arbitrary. Are you saying it's just a matter of degree, and if it happens to be the case for one set of "experts" or bureaucrats then fine. What happens when the next set decide a different group of undesirables is over the line?
What I'm saying has nothing to do with a right to be born, or an individual's right to personally make choices about their own reproductive and medical issues. It is purely about a state eugenics campaign to systematically eliminate undesirable classes of people from society.
We can probably all agree that screening for certain high-fatality conditions and terminating the pregnancy if they are found is generally better - say, Tay-Sachs disease. We can also agree that screening for other genetic traits and terminating the pregnancy if they are found is unnecessary at best and harmful to society at worst - say, aborting all female genotype fetuses.
Between such extremes lies the realm of the subjective and the messy, where some will agree and some won't. A democratic state may morally/ethically encourage or discourage opinions on these matters, ideally based on the best outcomes for all its citizens.
I didn't say I believe it or not. This isn't going to be some gotcha about my beliefs, I was explaining to the OP why this kind of thing is controversial.
> what is wrong with a state eugenics program, as long as it is not coercive or manipulative (that is, as long as it is done with the free consent of the parents)?
Well coercive or manipulative are not black-and-white, and there is concern that the line is over stepped. But leaving that aside, I go back to my first post.
Would you have any concerns with a government eugenics program to eliminate trans people from society using genetic screening and abortion counseling informing expectant parents about the horrible disadvantage, discrimination, and horrific physical and mental suffering that they go through at extremely high rates, and assuring them that abortions are a good treatment?
You skipped the question really. It's not where exactly you draw the line with disadvantage and difficulty, and it's not about an individual making their own personal choices. I'm asking about a government eugenics program with such a goal.
Well I don't want this to be a gotcha about your beliefs either, so I don't really need you to answer, the question is more to get people thinking about why the whole issue is not as simple as it seems.
On to the topic itself - I think it depends a lot on the specifics of such a program, and other social context. If it's used in a coercive or manipulative way, and it is also seen as an excuse not to improve things for trans people who are already living, obviously it would be controversial. If it's more informative and optional, and it comes paired with clear proof that the government isn't simply trying to kill the undesirables (such as Healthcare coverage for trans people, protection from discrimination etc), then I believe few would be against it.
Now, could it still be controversial? Sure, apparently casting a black person to play an elf is controversial.
That extra chromosome doesn't just go *poof* during meiosis. For the translocation type of the syndrome, it can and does happen occasionally.
What? The rate of it occurring is about the number of people alive with the syndrome, not those conceived. They abort all of them, so there are less of them. It's not about inheritance.
Every single 'controversial' topic comes with an unspoken invisible "at current rate" percent sign/sliding scale, for any side of any debate about society.
(political/ social/ demographic/ financial/ health )
I believe lots of obnoxious contrarian things very strongly and yet I'm honest with myself that at some fuzzy unknown hypothetical percentage, my opinion would have to flip because the entire structure of society would transform, warp, and eventually collapse.
People should stop with trolley problems and start asking about the invisible number next to every prescriptive societal claim they hold.
Most people are not that honest with themselves EVEN for the categories they themselves are in.
So, downs syndrome:
Somewhere between 0% percent, iceland, all the way to 100% of all new children born are born with downs and kept... (lets say some virus or enemy action or monsanto in the water etc) ,
move the slider along one percent at a time in your mind...
What percent leading to implosion of entire US society/alternate 'children of men' disaster that upends everything demographically, every institution and economic reality that holds the country together?
All women are doomed to give up every dream they had, be it of working or of a healthy family, they are now nanny-slaves to special needs children, who will reshape family dynamics.
Half the healthy men have to break their back to keep current society infrastructure, military crawling along while the other half must rebuild all society around the new demographic burden.
Every healthy non-downs sibling becomes neglected and bitter as the special ones suck up all oxygen and finances.
All the aging adult population must now compete for healthcare with the new generation of special needs. Maybe some take one for the team, suicides to pass along resources.
The life of every useful american adult needs to now be rerouted to a future of corralling these "good hearted" but unstable giant toddlers in adult bodies, with adult strengths and "impulses" and food and resource needs.
Ethnic resentments ramp up as some group values shift at different rates, being resource drains or having an edge on others.
At what percent (10%???) would foreign powers smell blood in the water and begin planning invasion to get first dibs at the doomed superpower?
(the effect of the small covid numbers (0.1%??? ) was sobering and has reshaped everything I think about how people and societies work, and I'm grateful for that lesson)
So, yeah, what's the highest percentage of total new births of these happy loveable people that you personally would still hold your current opinion about?
If you are not willing to kill babies and adults with Down Syndrome then your argument is incoherent.
Saying it's controversial allows lines, like killing adults with Downs would also hurt a lot of people around them who love them.
Abortion of course is controversial, the are thousands of different rules and time limits in different jurisdictions because it's so hard to understand. One assumes this is excluded from your argument since it's so obviously controversial.
Also this is not 'Iceland' this is the world where people are rich enough to care for the health of their babies. In these place most people chose to abort.
You also have other Sophies choice questions since the first test has a very high false positive you have to test properly with a 1 in 200 chance of miscarrying a fetus that is healthy.
To explain why I think you're being downvoted:
Imagine someone saying "I think all children should be born with at least two loving parents.". Would you say this implies they want to kill every bastard?
Speak for yourself, Down Syndrome isn't just a cognitive or genetic condition, they have a lot of physiological problems where the organs malfunction, hence the usual premature deaths and suffering.