Down Syndrome: Some Promising Research

[BCSpace]

I and my extended family are not affected, but I know people who are:

 

US researchers have found a way to reverse Down syndrome in newborn lab mice by injecting an experimental compound that causes the brain to grow normally.

 

The study, published in the Science Translational Medicine journal, offers no direct link to a treatment for humans but scientists are hopeful it may offer a path towards future breakthroughs.

 

There is no cure for Down syndrome, which is caused by the presence of an additional chromosome and results in intellectual disabilities, distinctive facial features and other health problems.

 

The team at Johns Hopkins University of Medicine, in Baltimore, used lab mice that were genetically engineered to have extra copies of about half the genes found on human chromosome 21, leading to Down syndrome-like conditions such as smaller brains and difficulty learning to navigate a maze.

 

On the day the mice were born, scientists injected them with a small molecule known as a sonic hedgehog pathway agonist.

'Unexpected benefits' in learning and memory

The compound, which has not been proven safe for use in humans, is designed to boost normal growth of the brain and body via a gene known as SHH.

 

The gene provides instructions for making a protein called sonic hedgehog, which is essential for development.

 

"It worked beautifully," said Roger Reeves of the Johns Hopkins University School of Medicine.

 

"Most people with Down syndrome have a cerebellum that's about 60 per cent of the normal size," he said.

 

"We were able to completely normalise growth of the cerebellum through adulthood with that single injection."

 

The injection also led to unexpected benefits in learning and memory, normally handled by a different part of the brain known as the hippocampus.

 

Researchers found that the treated mice did as well as normal mice on a test of locating a water platform while in a swimming maze.

 

However, adjusting the treatment for human use would be complicated, since altering the growth of the brain could lead to unintended consequences, such as triggering cancer.

 

"Down syndrome is very complex and nobody thinks there's going to be a silver bullet that normalises cognition," Dr Reeves said.

 

"Multiple approaches will be needed."

 

http://www.abc.net.au/news/2013-09-05/downs-syndrome-reversed-in-newborn-mice/4936412

 

[Tacenda]

That's very promising research, I wonder if it might help with Alzheimer's one day. It would be a Godsend, IMO. Oh, but there is something special about down syndrome children, it's like they are angels inside. ETA: but they can be little or big stinkers too.

Edited September 6, 2013 by Tacenda

[Kenngo1969]

There's a certain school of thought which holds that so called "disabilities" are simply physical traits, no different than having brown hair or hazel eyes (or [Gasp!], Heaven Forbid, being left-handed! )  While I find the premise of the play Flowers for Algernon intriguing, one of its messages, if you'll forgive my use of a cliché, is that "all that glitters isn't gold."  We often think that having some of the trials incident to mortality removed would make life hunky-dory, when, in fact, perhaps all it would do is enable us to exchange one set of challenges for a different set.  Would I get rid of my disability if I had that opportunity?  No doubt, there are a lot of things I'd like to be able to do.  Still, I'm not sure. I'm not naïve enough to think that automagically being given abilities I currently lack wouldn't come with challenges of its own.  (I don't have a reference, but perhaps that's part of the reason why Joseph Smith taught that we're resurrected as we are, and only slowly do we "metamorphose" into glorified, perfected beings.)

 

For more of my thoughts on the subject, see here (last accessed today): http://www.greatgourdini.wordpress.com/2013/07/20/disability-and-body-image/

 

For a counterpoint to the "Down's-Syndrome-Sufferers-As-Angels" motif (I hate using the word sufferers, but I'm not sure what a suitable, succinct substitute would be), see here (also last accessed today):

http://greatgourdini.wordpress.com/2013/07/31/the-disabled-different-yet-the-same/

 

Just my $0.02, actual value $0.0157550251050.

[thesometimesaint]

 

I and my extended family are not affected, but I know people who are:

 

 

This is good news, and definitely one they should keep working on.

Edited September 6, 2013 by thesometimesaint

[BCSpace]

(I hate using the word sufferers, but I'm not sure what a suitable, succinct substitute would be)

 

A couple in our ward has a Down Syndrome son, a deacon.  There are so many things he wants and requests to do that the other boys can do but can't or isn't allowed to that I'd say he certainly suffers from continuous disappointment.

[thesometimesaint]

Lots depends on what his actual abilities are. While the overwhelming majority of Downs are of significantly less than normal IQ, there are actually a few of quite normal IQ. Keep the parents in the loop and adjust accordingly.

[Calm]

Joseph F Smith, among others, taught that when first resurrected our bodies would retain its imperfections: https://www.lds.org/manual/doctrines-of-the-gospel-student-manual/chapter-32-the-resurrection-and-the-judgment?lang=eng

I am wondering if this is due to not revelation, but reasoning from the concept of Christ having his wounds present or reports of visions of the dead or something else. If the second, I would consider it a possibility that the Lord allows people to see others in an imperfect state for comfort rather than they actually being that age or still having a disability, etc. I know of visions where the disabilities of a child appear to have been healed in a very short time ( the parent has a vision just a few days after a handicapped child dies and while s/he is still a child, s/he is healed of any illness or long term challenges, etc.)

I suspect that a lot will have to do with what we desire and perhaps over time our desires will change due to realising the possibilities of the immortal state.

[Kenngo1969]

A couple in our ward has a Down Syndrome son, a deacon.  There are so many things he wants and requests to do that the other boys can do but can't or isn't allowed to that I'd say he certainly suffers from continuous disappointment.

I'd have to know specifically to what you're referring in order to make any judgment.  Knowing how best to involve those with disabilities whenever possible is a judgment call: sometimes those who make such judgment calls "err on the side of caution," and they might be surprised how those with disabilities would respond when given the opportunity.  Pain and disappointment are inevitable for all of us: perhaps those with disabilities have more of a share in those things than others do, but people often are more resilient than we give them credit for being, even (and, in many cases, especially) those with disabilities, even cognitive ones.  While disappointments may be frequent and quite keen for those with cognitive disabilities, perhaps it's easier to remind them that the glass really is (at least!) half-full.  

Edited September 10, 2013 by Kenngo1969

[Kenngo1969]

Joseph F Smith, among others, taught that when first resurrected our bodies would retain its imperfections: https://www.lds.org/manual/doctrines-of-the-gospel-student-manual/chapter-32-the-resurrection-and-the-judgment?lang=eng ...

 

 

Grazie, Cal!

[BCSpace]

A couple in our ward has a Down Syndrome son, a deacon.  There are so many things he wants and requests to do that the other boys can do but can't or isn't allowed to that I'd say he certainly suffers from continuous disappointment.

 

I'd have to know specifically to what you're referring in order to make any judgment.  Knowing how best to involve those with disabilities whenever possible is a judgment call: sometimes those who make such judgment calls "err on the side of caution," and they might be surprised how those with disabilities would respond when given the opportunity.  Pain and disappointment are inevitable for all of us: perhaps those with disabilities have more of a share in those things than others do, but people often are more resilient than we give them credit for being, even (and, in many cases, especially) those with disabilities, even cognitive ones.  While disappointments may be frequent and quite keen for those with cognitive disabilities, perhaps it's easier to remind them that the glass really is (at least!) half-full.

 

Couldn't say for sure as he's not my son.  But, for example, he needs a lot of supervision and so if one of his parents can't be there, he sometimes can't participate.  I think his parents do a really good job.  They have other children to manage too and they seem to do everything they can to be there for their son.

[Kenngo1969]

Couldn't say for sure as he's not my son.  But, for example, he needs a lot of supervision and so if one of his parents can't be there, he sometimes can't participate.  I think his parents do a really good job.  They have other children to manage too and they seem to do everything they can to be there for their son.

I wonder if he has (or could develop) a good enough rapport with (an)other(s) in the Ward such that that person (or those persons) could supervise him in the event that one of his parents is unavailable.  (I wonder, too, if there might be services available to the developmentally disabled for supervision purposes of which members of his family might avail themselves.)  I'm not judging his parents at all: as I say, how best to foster appropriate independence in a disabled child is a difficult judgment call for all parents of such children.  My parents have faced such choices, even though my disability isn't cognitive in nature.  I can't imagine how much more difficult such choices would be if it were.

 

P.S.: I'm not sure what the staffing situation is in the ward in question: in most wards, there are far more callings needing to be filled than there are people willing and able to fill them (although I do find merit in the critique that sometimes leaders get boxed into the "Same Ten People" trap).  Sometimes leaders need to do a better job "thinking outside the box" and not dismiss the inspiration that comes when the Spirit attempts to persuade them to call someone they never would have thought of on their own.  (After all, the idea that the Spirit [the Lord] is in charge is the whole point, isn't it? )  All of that having been said, I wonder if someone couldn't receive a specific calling as a shepherd to this young man.

Edited September 10, 2013 by Kenngo1969

[BCSpace]

I'm guessing, and this is just a guess, that part of it may be that he still has trouble knowing when to go to the bathroom.  I think leaders in the ward and the other children are willing and do step up to help, but his parents do jump in quite a bit to make sure one of them is there.  They don't talk about it much so we're not always sure what to do in spite of some carefully worded inquiries, so we just roll with whatever they want to do.

Edited September 10, 2013 by BCSpace

[cdowis]

“The bishopric or stake presidency may call a ward or stake disability specialist to help individuals and families” (Handbook 2: Administering the Church [2010], 21.1.26).

[Calm]

https://www.lds.org/topics/disability/