This new study opens the door to potential new pharmacological treatments that could delay the progression of Alzheimer's disease, according to scientists.
Given the well-established relationship between Alzheimer's and Down syndrome, it will be interesting to follow future developments in this area to look for clues as to what this could mean for people with Down syndrome.
Showing posts with label Down syndrome. Show all posts
Showing posts with label Down syndrome. Show all posts
Tuesday, March 20, 2012
Tuesday, February 28, 2012
Celebrate World Down Syndrome Day March 21
In November last year, the United Nations adopted a resolution to designate March 21 as World Down Syndrome Day.
Although this is the seventh annual WDSD, 2012 will be the first year that this occasion has been officially recognized by the United Nations. The video below was one of many produced to commemorate WDSD 2011, in the theme, "Let Us In".
The date, March 21, (21, 3) is selected to represent the 3 copies of chromosome 21 that is the unique characteristic of all people with Down syndrome
We are not currently aware of any activities planned for the Montreal or South Shore / Monteregie areas however will try to find out if there is anything and post it here.
Although this is the seventh annual WDSD, 2012 will be the first year that this occasion has been officially recognized by the United Nations. The video below was one of many produced to commemorate WDSD 2011, in the theme, "Let Us In".
The date, March 21, (21, 3) is selected to represent the 3 copies of chromosome 21 that is the unique characteristic of all people with Down syndrome
We are not currently aware of any activities planned for the Montreal or South Shore / Monteregie areas however will try to find out if there is anything and post it here.
Wednesday, November 16, 2011
Choice in the Cold Light of Day: USA Today Column on Down Syndrome Screening
There is a column in USA Today from a couple of days ago by Dr. Brian Skotko, concerning the implications of the new blood test screening for Down syndrome that will be available at 10 weeks of pregnancy.
The article speculates about what may happen now that a far less invasive test for Down syndrome will be available: "Will America cull people with Down syndrome?"
Dr. Skotko writes that he and his team surveyed over 3,000 families who have a family member with Down syndrome to find out how they view the effect this condition has had on their lives. Surprisingly (or not!), the results were massively positive, with 99% of respondents answering that they truly love their DS children and even 88% of siblings responding that having DS in their family has made them better people.
Besides looking at the expressed satisfaction (for lack of a better word) of DS families, Dr. Skotko also mentions the achievements of some people with Down syndrome.
And he goes on to say, "I care deeply that patients receive accurate, up-to-date, balanced information so they can make informed decisions. Yet, as a physician, I am not in the business of telling expectant couples what pregnancy decisions they should be making when their fetus has Down syndrome. That is their decision."
Very difficult decisions indeed.
What Dr. Skotko does not address is the overall impact on humanity that could result from a sharp reduction in DS births. Do we really want to mess around with the essence of humanity by altering the balance and diversity that has existed for tens of thousands of years? Do we have the wisdom that is needed to alter the nature of our species? Some may say, yes - many would say, clearly not.
But, equally clearly, the impossibility of imposing responsibility for the societal impact of these decisions on pregnant women and their spouses.
And don't forget, it doesn't end with Down syndrome. Who knows what possibilities could be opened up with advances in genetics and medicine, even in the short term, never mind in a few decades? This is a conversation that is very large and yet as intimate and personal as there is.
I am afraid that time and science may not allow us to adequately weigh or understand the consequences.
The article speculates about what may happen now that a far less invasive test for Down syndrome will be available: "Will America cull people with Down syndrome?"
Dr. Skotko writes that he and his team surveyed over 3,000 families who have a family member with Down syndrome to find out how they view the effect this condition has had on their lives. Surprisingly (or not!), the results were massively positive, with 99% of respondents answering that they truly love their DS children and even 88% of siblings responding that having DS in their family has made them better people.
Besides looking at the expressed satisfaction (for lack of a better word) of DS families, Dr. Skotko also mentions the achievements of some people with Down syndrome.
And he goes on to say, "I care deeply that patients receive accurate, up-to-date, balanced information so they can make informed decisions. Yet, as a physician, I am not in the business of telling expectant couples what pregnancy decisions they should be making when their fetus has Down syndrome. That is their decision."
Very difficult decisions indeed.
What Dr. Skotko does not address is the overall impact on humanity that could result from a sharp reduction in DS births. Do we really want to mess around with the essence of humanity by altering the balance and diversity that has existed for tens of thousands of years? Do we have the wisdom that is needed to alter the nature of our species? Some may say, yes - many would say, clearly not.
But, equally clearly, the impossibility of imposing responsibility for the societal impact of these decisions on pregnant women and their spouses.
And don't forget, it doesn't end with Down syndrome. Who knows what possibilities could be opened up with advances in genetics and medicine, even in the short term, never mind in a few decades? This is a conversation that is very large and yet as intimate and personal as there is.
I am afraid that time and science may not allow us to adequately weigh or understand the consequences.
Wednesday, August 3, 2011
Down Syndrome: Technological Advances Raise Soul-Searching Questions About the Meaning of Life
Within a matter of months, the progress of science has outstripped our ability to process consequences and, unnoticed by most everyone, stands on the precipice of redefining human life.
Ever since the rise of humanity, Down syndrome, or trisomy 21, has been an integral part of the human condition. Despite all the efforts of medicine and therapy, Down syndrome has always been present. The population with Down syndrome plays a considerable role in almost all communities around the the globe. This may not be the place to discuss the extent of this role. Suffice to say that it is significant, it has existed since time immemorial and it provides a window into the human soul that would otherwise be difficult or impossible to find. Sooner rather than later, it is going to be left up to us to decide what value this role has to humanity.
Now, as has become widely known over the past number of weeks, the possibility of non-invasive prenatal testing for Down syndrome in the first trimester is imminent. This in itself is a development that pushes the philosophy and boundaries of human reproduction in a new direction that could take decades to assess and understand. It also represents an idea that will be controversial and contentious for all foreseeable time.
Then, just as this bombshell has landed right in our philosophical kitchen, science has launched another barrage on another front. As discussed here yesterday, drug therapies that can be expected to improve memory and other cognitive abilities in people with Down syndrome, are in human trials. And, even if this particular drug isn't as effective as hoped, there is plenty of reason to believe that some other drug will be identified in the near future.
Where does this all leave Down syndrome?
The fact is that the new prenatal testing regime is just around the corner and its use will spread prolifically. After all, it seems inconceivable that society would forcibly put the responsibility of raising and caring for Down syndrome children onto people who do not feel able to accept this destiny. At the same time, many people will work to slow the effect of this testing. Pro-life advocates and religious fundamentalists will be front and centre. There are countries, even in the advanced western world, such as Ireland, that don't even have prenatal screening because abortion in any form is illegal.
So things will take some time to unfold completely. Who knows? The possibility of effective cognitive therapies may even give more people the courage to see Down syndrome pregnancies through to term even when screening comes out positive.
Yet, even with that outcome, we may find that Down syndrome as we know it will eventually come to an end as drug and other therapies mitigate the effects of the condition to a point where it becomes beyond recognition.
Which brings us back to the original question - do we have the right to interfere with this process?
Considering that, as it is, as many as 90% of Down syndrome pregnancies end in miscarriage, it could be understood that any birth of a child with Down syndrome is a minor miracle of nature all by itself. Something like the salmon that leap raging waterfalls to make their way upstream to spawn. Only a small few make it through. But do they have an important job to do? Virtually everyone who has had contact with Down syndrome people inevitably declares that their lives have been changed and that Down syndrome people have brought them joy, insight, empathy and even some kind of magic.
Many many people have tapped into the metaphor (or is it a cliche?) of Down syndrome children as "angels". You may or may not understand this in a religious sense.
Yes, having a child with Down syndrome is painful in many ways. But is this a necessary pain for humanity? Is it the price we pay to have messengers of unconditional love living amongst us?
Is this one kernel of the essence of humanity that we cannot do without?
Ever since the rise of humanity, Down syndrome, or trisomy 21, has been an integral part of the human condition. Despite all the efforts of medicine and therapy, Down syndrome has always been present. The population with Down syndrome plays a considerable role in almost all communities around the the globe. This may not be the place to discuss the extent of this role. Suffice to say that it is significant, it has existed since time immemorial and it provides a window into the human soul that would otherwise be difficult or impossible to find. Sooner rather than later, it is going to be left up to us to decide what value this role has to humanity.
Now, as has become widely known over the past number of weeks, the possibility of non-invasive prenatal testing for Down syndrome in the first trimester is imminent. This in itself is a development that pushes the philosophy and boundaries of human reproduction in a new direction that could take decades to assess and understand. It also represents an idea that will be controversial and contentious for all foreseeable time.
Then, just as this bombshell has landed right in our philosophical kitchen, science has launched another barrage on another front. As discussed here yesterday, drug therapies that can be expected to improve memory and other cognitive abilities in people with Down syndrome, are in human trials. And, even if this particular drug isn't as effective as hoped, there is plenty of reason to believe that some other drug will be identified in the near future.
Where does this all leave Down syndrome?
The fact is that the new prenatal testing regime is just around the corner and its use will spread prolifically. After all, it seems inconceivable that society would forcibly put the responsibility of raising and caring for Down syndrome children onto people who do not feel able to accept this destiny. At the same time, many people will work to slow the effect of this testing. Pro-life advocates and religious fundamentalists will be front and centre. There are countries, even in the advanced western world, such as Ireland, that don't even have prenatal screening because abortion in any form is illegal.
So things will take some time to unfold completely. Who knows? The possibility of effective cognitive therapies may even give more people the courage to see Down syndrome pregnancies through to term even when screening comes out positive.
Yet, even with that outcome, we may find that Down syndrome as we know it will eventually come to an end as drug and other therapies mitigate the effects of the condition to a point where it becomes beyond recognition.
Which brings us back to the original question - do we have the right to interfere with this process?
Considering that, as it is, as many as 90% of Down syndrome pregnancies end in miscarriage, it could be understood that any birth of a child with Down syndrome is a minor miracle of nature all by itself. Something like the salmon that leap raging waterfalls to make their way upstream to spawn. Only a small few make it through. But do they have an important job to do? Virtually everyone who has had contact with Down syndrome people inevitably declares that their lives have been changed and that Down syndrome people have brought them joy, insight, empathy and even some kind of magic.
Many many people have tapped into the metaphor (or is it a cliche?) of Down syndrome children as "angels". You may or may not understand this in a religious sense.
Yes, having a child with Down syndrome is painful in many ways. But is this a necessary pain for humanity? Is it the price we pay to have messengers of unconditional love living amongst us?
Is this one kernel of the essence of humanity that we cannot do without?
Tuesday, August 2, 2011
New Treatment to Improve Cognitive Function in Down Syndrome with Drug in Clinical Trials
A drug that is effective for improving cognitive function in mice with Down syndrome is in final stages of a clinical trial on human Down syndrome patients..
“We are hoping to enhance memory and learning in those with Down syndrome,” said Alberto Costa, MD, Ph.D., an associate professor of medicine and the neuroscientist leading the effort. “We have been studying this drug for three years and are now ready to analyze the data on our trial. Our team at the University of Colorado and Children’s Hospital Colorado expects to have the results in the next two or three months.”
As explained in detail in an article in the New York Times Magazine this past weekend, Down syndrome is the result of such a complex over-representation of genetic material (an extra chromasome containing some 500 genes in each and every cell in the body), that scientists had long despaired of ever finding meaningful treatment or cure.
However, recent developments in genetics and other realms of science have opened the door to some interesting possibilities.
For one thing, Down syndrome has come to be closely associated with Alzheimer's disease. Another huge development was the creation in the 1980s of a mouse exhibiting many characteristics of Down syndrome.
Enter Dr. Costa. The drug he is currently testing is Memantine, which was approved for use in treating Alzheimer's in Europe in 2002 and the U.S. in 2003. The same drug, under the name Ebixa, has been conditionally approved by Health Canada for treatment of moderate and severe Alzheimer's.
More information on Memantine as an Alzheimer drug can be found here.
“We are hoping to enhance memory and learning in those with Down syndrome,” said Alberto Costa, MD, Ph.D., an associate professor of medicine and the neuroscientist leading the effort. “We have been studying this drug for three years and are now ready to analyze the data on our trial. Our team at the University of Colorado and Children’s Hospital Colorado expects to have the results in the next two or three months.”
"Hoping to enhance memory and learning in those with Down syndrome"
As explained in detail in an article in the New York Times Magazine this past weekend, Down syndrome is the result of such a complex over-representation of genetic material (an extra chromasome containing some 500 genes in each and every cell in the body), that scientists had long despaired of ever finding meaningful treatment or cure.
However, recent developments in genetics and other realms of science have opened the door to some interesting possibilities.
For one thing, Down syndrome has come to be closely associated with Alzheimer's disease. Another huge development was the creation in the 1980s of a mouse exhibiting many characteristics of Down syndrome.
Enter Dr. Costa. The drug he is currently testing is Memantine, which was approved for use in treating Alzheimer's in Europe in 2002 and the U.S. in 2003. The same drug, under the name Ebixa, has been conditionally approved by Health Canada for treatment of moderate and severe Alzheimer's.
More information on Memantine as an Alzheimer drug can be found here.
Monday, March 14, 2011
New prenatal testing for Down syndrome raises sensitive issues
The recent announcement that a new blood test devised to test for Down syndrome early in pregnancy has been proven highly accurate is going to result in intensified discussion of related ethical issues.
As seen in this CTV News story, there are a large range of opinions and concerns on this question.
When it becomes available, the new, non-invasive, blood test could be given earlier in the pregnancy than the status quo amniocentesis test, which has a one per cent chance of causing a miscarriage.
As the story goes on to address, parents would then have the opportunity to consider terminating a pregnancy at an earlier stage, when there would be possibly less emotional attachment. It is also quite possible that many more mothers would choose to have the blood test than currently have amniocentesis. With the predictable result of fewer Down syndrome births.
However, the ethical concerns being raised are powerful and important. Such questions as: do we have the right to "weed out" the less than perfect of our species? Those who have had the opportunity to live with people who have Down syndrome almost invariably state that these people make a rich contribution to the lives of all who know them. Do not Down syndrome people make up an important facet in the human mosaic? If the number of Down syndrome births were sharply curtailed by systematic testing, would we be in danger of removing a part of human diversity that is indeed necessary?
Without even getting into "cost to the medical and educational systems", "Pro Life/Pro Choice" angles or fundamentalist religious opinions, we see there could be legitimate, and at times contentious, concerns about new, easier, prenatal testing, not only for Down syndrome but also other so-called "abnormalities".
There are quite a number of comments following the CTV News story - I took the liberty of copying them and posting them on the Rapid Facebook group discussion section, in case they disappear from the CTV site at some point in time. The range of opinions is important to acknowledge and consider.
As seen in this CTV News story, there are a large range of opinions and concerns on this question.
When it becomes available, the new, non-invasive, blood test could be given earlier in the pregnancy than the status quo amniocentesis test, which has a one per cent chance of causing a miscarriage.
As the story goes on to address, parents would then have the opportunity to consider terminating a pregnancy at an earlier stage, when there would be possibly less emotional attachment. It is also quite possible that many more mothers would choose to have the blood test than currently have amniocentesis. With the predictable result of fewer Down syndrome births.
However, the ethical concerns being raised are powerful and important. Such questions as: do we have the right to "weed out" the less than perfect of our species? Those who have had the opportunity to live with people who have Down syndrome almost invariably state that these people make a rich contribution to the lives of all who know them. Do not Down syndrome people make up an important facet in the human mosaic? If the number of Down syndrome births were sharply curtailed by systematic testing, would we be in danger of removing a part of human diversity that is indeed necessary?
Without even getting into "cost to the medical and educational systems", "Pro Life/Pro Choice" angles or fundamentalist religious opinions, we see there could be legitimate, and at times contentious, concerns about new, easier, prenatal testing, not only for Down syndrome but also other so-called "abnormalities".
There are quite a number of comments following the CTV News story - I took the liberty of copying them and posting them on the Rapid Facebook group discussion section, in case they disappear from the CTV site at some point in time. The range of opinions is important to acknowledge and consider.
Friday, February 18, 2011
Protein Dose Reverses Learning Problems in Down Syndrome Mice
A team of scientists at the National Institutes of Health in Bethesda, Maryland engineered mice to replicate Down syndrome and then showed that learning problems experienced by these mice were reversed by treatment with proteins. They found the treatments could be successfully administered either pre-natally or on adult mice.
Saturday, December 4, 2010
León y Olvido
A Spanish film about Down syndrome and relationships.
This is just the trailer but if you speak Spanish it looks like you can pretty much watch the whole thing on Youtube.
This is just the trailer but if you speak Spanish it looks like you can pretty much watch the whole thing on Youtube.
Tuesday, October 12, 2010
Down Syndrome Research Foundation in Vancouver forced to "pull plug" on brain scanner
The Down Syndrome Research Foundation (DSRF) in Burnaby, B.C., has been forced to "pull the plug" on its brain scanner due to lack of funds.
This is the second year in a row that the scanner has been forced to shut down for six months due to lack of funding. Because federal funding is a major component of several of the potential revenue sources for the scanner lab, as well as other medical and scientific projects, competition for funding has become tight.
Read the full story in Burnaby Now.
Among its other initiatives the DSRF also runs a Specialized Learning Center.
Following is the DSRF Vision Statement:
At the Down Syndrome Research Foundation, we firmly believe that if people with intellectual disabilities are provided with specific and relevant educational instruction they can reach their potential. This will allow them to contribute to their community thus requiring less dependence on government resources. Without meaningful instruction and interventions, their potential is untapped and they are destined to engage in empty activities.
Lifelong learning is the concept that “it’s never too soon or too late for learning”, a philosophy that drives research and program development at the Down Syndrome Research Foundation. Yet for people with disabilities, opportunity for ongoing learning stops at a very early age.
At the Down Syndrome Research Foundation we initiate and participate in research that provides insight into the unique learning style of these individuals. The data collected is analyzed and pilot interventions and educational programs are developed and offered. These programs test the understanding of the brain and are evaluated to observe the impact on our students. Even the slightest increase in cognitive ability, the objective that drives our work, can make a significant difference in the level of support an individual with an intellectual disability may require.
This is the second year in a row that the scanner has been forced to shut down for six months due to lack of funding. Because federal funding is a major component of several of the potential revenue sources for the scanner lab, as well as other medical and scientific projects, competition for funding has become tight.
Read the full story in Burnaby Now.
Among its other initiatives the DSRF also runs a Specialized Learning Center.
Following is the DSRF Vision Statement:
At the Down Syndrome Research Foundation, we firmly believe that if people with intellectual disabilities are provided with specific and relevant educational instruction they can reach their potential. This will allow them to contribute to their community thus requiring less dependence on government resources. Without meaningful instruction and interventions, their potential is untapped and they are destined to engage in empty activities.
Lifelong learning is the concept that “it’s never too soon or too late for learning”, a philosophy that drives research and program development at the Down Syndrome Research Foundation. Yet for people with disabilities, opportunity for ongoing learning stops at a very early age.
At the Down Syndrome Research Foundation we initiate and participate in research that provides insight into the unique learning style of these individuals. The data collected is analyzed and pilot interventions and educational programs are developed and offered. These programs test the understanding of the brain and are evaluated to observe the impact on our students. Even the slightest increase in cognitive ability, the objective that drives our work, can make a significant difference in the level of support an individual with an intellectual disability may require.
Thursday, October 7, 2010
Boy with Down syndrome scores touchdown in Washington State high school game
A 17-year-old with Down syndrome scored a touchdown on Friday, Sept. 24, for his Snohomish Wa. high school team. Ike Ditzberger scored the TD with 10 seconds remaining in the game, which his team was losing 36-0. He scored on a 51-yard run, romping through a momentarily distracted opposing backfield. The milestone came against a Lake Stevens team which, it must be said, offered only a somewhat unconvincing defense against Ditzberger's breakout run.
"He's someone that everybody can kind of enjoy because he has such a great personality and character," Snohomish senior captain Keith Wigney told the Everett Herald in a feature on Ditzenberger.
"He's someone that everybody can kind of enjoy because he has such a great personality and character," Snohomish senior captain Keith Wigney told the Everett Herald in a feature on Ditzenberger.
Subscribe to:
Posts (Atom)