5 ms·

> 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

> 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!

adamm255 4y ago
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.
ahupp 4y ago
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-model-scientists-reverse-intellectual-deficits-drugs https://www.ucsf.edu/news/2019/11/415946/down-syndrome-mouse...
- GordonS 4y ago
  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.
dmix 4y ago
Is it true you can detect these sorts of thing before birth or is it still a shot in the dark?
- cfu28 4y ago
  A screen for Down's syndrome is routinely done at the end of the first trimester/start of the second trimester.
  - GordonS 4y ago
    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".
    - cfu28 4y ago
      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
      - GordonS 4y ago
        > 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).
- MontyCarloHall 4y ago
  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/ https://www.cbsnews.com/amp/news/down-syndrome-iceland/
- d136o 4y ago
  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-down-syndrome https://www.ucsfhealth.org/education/prenatal-testing-for-do... Some might say that these tests are being over used… it’s very personal imo.
  - CrHn3 4y ago
    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.
    - Waterluvian 4y ago
      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.
      - jpollock 4y ago
        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/ https://pubmed.ncbi.nlm.nih.gov/11702835/ [2] https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html https://www.canada.ca/en/public-health/services/publications... [3] https://www.statista.com/statistics/443051/number-of-births-in-canada/ https://www.statista.com/statistics/443051/number-of-births-...
- wraithgourd 4y ago
  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.
  - cercatrova 4y ago
    By that logic a bacterium and I are also basically intellectually the same before a superintelligence, in the Bostrom sense.
  - overboard2 4y ago
    Why should the values of a superintelligence affect our own?
    - vintermann 4y ago
      It shouldn't, unless you derive your idea of worth from your intelligence, which you also shouldn't.
  - astrange 4y ago
    You know that just because you’ve imagined something called a superintelligence doesn’t mean there is such a thing, right?
- tomcam 4y ago
- sacrosancty 4y ago
  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.
- GordonS 4y ago
  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.
wrp 4y ago
> ...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?
- GordonS 4y ago
  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.
wraithgourd 4y ago
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.
- bongoman37 4y ago
  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.

adamm255 4y ago

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.

ahupp 4y ago

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-model-scientists-reverse-intellectual-deficits-drugs https://www.ucsf.edu/news/2019/11/415946/down-syndrome-mouse...

GordonS 4y ago
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.

dmix 4y ago

Is it true you can detect these sorts of thing before birth or is it still a shot in the dark?

cfu28 4y ago
A screen for Down's syndrome is routinely done at the end of the first trimester/start of the second trimester.
- GordonS 4y ago
  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".
  - cfu28 4y ago
    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
    - GordonS 4y ago
      > 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).
MontyCarloHall 4y ago
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/ https://www.cbsnews.com/amp/news/down-syndrome-iceland/
d136o 4y ago
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-down-syndrome https://www.ucsfhealth.org/education/prenatal-testing-for-do... Some might say that these tests are being over used… it’s very personal imo.
- CrHn3 4y ago
  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.
  - Waterluvian 4y ago
    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.
    - jpollock 4y ago
      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/ https://pubmed.ncbi.nlm.nih.gov/11702835/ [2] https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html https://www.canada.ca/en/public-health/services/publications... [3] https://www.statista.com/statistics/443051/number-of-births-in-canada/ https://www.statista.com/statistics/443051/number-of-births-...
wraithgourd 4y ago
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.
- cercatrova 4y ago
  By that logic a bacterium and I are also basically intellectually the same before a superintelligence, in the Bostrom sense.
- overboard2 4y ago
  Why should the values of a superintelligence affect our own?
  - vintermann 4y ago
    It shouldn't, unless you derive your idea of worth from your intelligence, which you also shouldn't.
- astrange 4y ago
  You know that just because you’ve imagined something called a superintelligence doesn’t mean there is such a thing, right?
tomcam 4y ago
sacrosancty 4y ago
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.
GordonS 4y ago
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.

wrp 4y ago

> ...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?

GordonS 4y ago
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.

wraithgourd 4y ago

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.

bongoman37 4y ago
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.