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Re:A hormone may boost cognition in Down syndrome by GordonS on Saturday September 03, 2022 @05:53PM (#32706479)
> Six out of seven patients improved their cognitive tests by 20 to 30 percent

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!

Re:A hormone may boost cognition in Down syndrome by wrp on Saturday September 03, 2022 @09:15PM (#32708633)
> ...you can AMA about Down's here if you want...

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?

Re:A hormone may boost cognition in Down syndrome by GordonS on Sunday September 04, 2022 @04:48AM (#32711140)
50 years ago it was pretty much assumed that anyone with Down's could do very little, and so society rarely bothered actually teaching kids. People with Down's were often shoved into a residential care home and basically left to rot there.

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.

Re:A hormone may boost cognition in Down syndrome by ahupp on Saturday September 03, 2022 @07:51PM (#32707797)
What are your thoughts on ISRIB as a potential treatment for the cognitive effects of Down's Syndrome?

https://www.ucsf.edu/news/2019/11/415946/down-syndrome-mouse...

Re:A hormone may boost cognition in Down syndrome by GordonS on Sunday September 04, 2022 @05:22AM (#32711319)
Ah yes, I read that paper when it was first published - it also shows great promise!

As these 2 approaches are different, it would be interesting to see if there was a cumulative effect if both were performed.

Re:A hormone may boost cognition in Down syndrome by adamm255 on Saturday September 03, 2022 @06:56PM (#32707151)
Yeah the summary made for great reading. This kind of research (and the fact it could help alzheimer's as well...) should be funded to high heaven.
Re:A hormone may boost cognition in Down syndrome by dmix on Saturday September 03, 2022 @09:10PM (#32708591)
Is it true you can detect these sorts of thing before birth or is it still a shot in the dark?
Re:A hormone may boost cognition in Down syndrome by MontyCarloHall on Saturday September 03, 2022 @09:21PM (#32708684)
Yes, extremely reliably, to the degree that Down syndrome has almost disappeared in societies with widespread prenatal screening [0].

[0] https://www.cbsnews.com/amp/news/down-syndrome-iceland/

Re:A hormone may boost cognition in Down syndrome by d136o on Saturday September 03, 2022 @09:24PM (#32708709)
First of all, I want to be respectful of the parent comment, much much respect for all the hard work that it must be.

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.

Re:A hormone may boost cognition in Down syndrome by CrHn3 on Saturday September 03, 2022 @10:11PM (#32709038)
Non-Invasive Prenatal Testing (NIPT) was made available in the US in 2011. It’s highly sensitive for detecting down’s syndrome. Self pay is now 100-300 USD but a few years ago I think it was as much as 3000. It’s fully covered and encouraged for geriatric pregnancies, which are much more likely to have an extra copy of chromosome 21.

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.

Re:A hormone may boost cognition in Down syndrome by Waterluvian on Saturday September 03, 2022 @10:39PM (#32709219)
We got this for free in Canada. My first kid had the soft positive marker for it in his first ultrasound (Interesting you say 96% because our doctors said it meant a 1 in 300 chance. Maybe we are talking about different things). So they sent us to Hamilton a week later for genetic screening. The geneticist walked us through the results and said that the tests are effectively negative and now his odds are something like 1 in 5000.

This is all to say: indeed they have non-invasive tests and they’re very accessible.

Re:A hormone may boost cognition in Down syndrome by jpollock on Sunday September 04, 2022 @02:43AM (#32710490)
Without knowing the number of tests performed, you can both be correct.

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-...

Re:A hormone may boost cognition in Down syndrome by GordonS on Sunday September 04, 2022 @04:43AM (#32711111)
Yes, there is now the NIPT test, which is something like 99% accurate, and involves taking blood from mother and extracting fetal DNA from it.

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.

Re:A hormone may boost cognition in Down syndrome by sacrosancty on Sunday September 04, 2022 @02:21AM (#32710375)
Worth noting that some mothers perfer not to test for it because there's an implication they'll decide to kill their baby if it's "defective" which they find horrible and unloving. Eugenics, basically.
Re:A hormone may boost cognition in Down syndrome by cfu28 on Saturday September 03, 2022 @09:21PM (#32708680)
A screen for Down's syndrome is routinely done at the end of the first trimester/start of the second trimester.
Re:A hormone may boost cognition in Down syndrome by GordonS on Sunday September 04, 2022 @05:24AM (#32711328)
This is true, but that test is inaccurate, and only provides odds of having a baby with Down's, for example "you have a 3500:1 chance of having a baby with Down's Syndrome".
Re:A hormone may boost cognition in Down syndrome by cfu28 on Sunday September 11, 2022 @10:10AM (#32799746)
Right, but a positive screen is usually followed up with a more specific test (karyotype, cvs, amniocentesis) which can give a definitive diagnosis.

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

Re:A hormone may boost cognition in Down syndrome by GordonS on Sunday September 11, 2022 @02:24PM (#32801986)
> Right, but a positive screen is usually followed up with a more specific test (karyotype, cvs, amniocentesis) which can give a definitive diagnosis.

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).

Re:A hormone may boost cognition in Down syndrome by wraithgourd on Saturday September 03, 2022 @09:32PM (#32708760)
You do realize that before Allied Mastercomputer, her intelligence and yours are basically the same? The only difference is in how good you are to others.
Re:A hormone may boost cognition in Down syndrome by astrange on Sunday September 04, 2022 @01:07AM (#32710029)
You know that just because you’ve imagined something called a superintelligence doesn’t mean there is such a thing, right?
Re:A hormone may boost cognition in Down syndrome by overboard2 on Saturday September 03, 2022 @10:51PM (#32709289)
Why should the values of a superintelligence affect our own?
Re:A hormone may boost cognition in Down syndrome by vintermann on Sunday September 04, 2022 @01:58AM (#32710266)
It shouldn't, unless you derive your idea of worth from your intelligence, which you also shouldn't.
Re:A hormone may boost cognition in Down syndrome by cercatrova on Saturday September 03, 2022 @10:07PM (#32709016)
By that logic a bacterium and I are also basically intellectually the same before a superintelligence, in the Bostrom sense.
Re:A hormone may boost cognition in Down syndrome by wraithgourd on Saturday September 03, 2022 @09:27PM (#32708730)
I hope you remember that she is good, and that smarter people are often not. I hope you do not interpret that as an insult.

edit: I love how this is getting downvoted on a site where most people are anti Apple CSAM reporting.

Re:A hormone may boost cognition in Down syndrome by bongoman37 on Sunday September 04, 2022 @01:16AM (#32710063)
Those are complete non sequiturs. Being smart doesn't detract from being 'good'. People here aren't anti Apple CSAM reporting. They are against routine privacy invasion for people who have nothing to do with CSAM. I am sure if the scanning had a zero percent false positive rate and there was no privacy invasion lots of people would be for it.