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Down's Syndrome News as of Oct 22, 2024
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Controversial Down's Syndrome Test Launches in Switzerland
Sun, 29 Jul 2012 21:32:35 - Pacific Time
Switzerland has given the green light for a new prenatal test for Down's syndrome amid controversy over whether this will lead to more abortions, a Swiss newspaper reported Sunday. Testing will be available in the country from mid-August following a decision by Swissmedic, the national agency for therapeutic products, the Neue Zuercher Zeitung am Sonntag reported.
The test, developed by life sciences company LifeCodexx, involves screening pregnant women's blood samples for the presence of foetal Down's syndrome, which is also known as trisomy 21. The German-based firm described the procedure, marketed as PrenaTest, as a "risk-free alternative to common invasive examination methods such as amniocentesis".
Demand is high in Switzerland from doctors and expectant mothers, the company said. The test will also be marketed in Germany, Austria and Liechtenstein, according to the German-based firm's website. The Swiss national health insurer Santesuisse and the Swiss gynaecological society are happy for the cost of the test to be reimbursed as part of standard medical cover if it proves successful, the NZZ report said.
But the international federation of Down's syndrome organisations has objected to such testing at the European Court of Human Rights. The federation, grouping 30 associations in 16 countries, said in June that the Strasbourg court should "recognise the human condition and protect the right to life of people with Down's syndrome and those handicapped".
Down's syndrome is caused by having an extra copy of chromosome 21 and the risk increases as a woman gets older. Invasive procedures currently used for prenatal diagnosis -- in the 16th week of pregnancy -- pose a one percent risk of foetal loss. The diagnosis is therefore only made available to high risk women, which fails to catch all cases. Read More...
Alzheimer's Drug Shows Promise As Treatment For Down Syndrome
Tue, 17 Jul 2012 17:24:32 - Pacific Time
Dr. Alberto Costa, a researcher and an associate professor at the University of Colorado, who has a daughter with Down syndrome and who was then conducting a study to see whether a particular drug, memantine, can improve the intellectual abilities of adults with the syndrome. Results of the study are being published in the August issue of the journal Translational Psychiatry.
Dr. Costa previously published a study in mice with the equivalent of Down syndrome, showing that the Alzheimer’s drug memantine almost immediately normalized their ability to learn and remember. The new study, involving 40 young adults with Down syndrome, was far less definitive. Both before and after taking either memantine or a placebo for 16 weeks, the participants underwent a battery of tests of their intellectual abilities. The New York Times asked Hurley, who wrote about whether you can make yourself smarter through memory training in our Health issue, to characterize the results of Costa’s study. He writes:
First the bad news: of the 14 cognitive measures tested before and after treatment, those taking memantine only did significantly better than those taking a placebo on a single test. And it was not one of the two “primary” measures designated by Costa before the study began.
The good news, however, is that this is the first time any drug study of Down syndrome showed a statistically significant benefit on any measure of cognition. Moreover, the trends, although falling short of statistical significance, favored memantine over placebo on 13 of the 14 measures.
"This is the first study demonstrating a pharmacological effect on cognition in Down syndrome patients, and it was performed using an F.D.A.-approved drug with very few clinically relevant complications," said Tarik Haydar, Ph.D., a Down syndrome researcher at Boston University. "At the very least, this study should provide a sound justification for further, broader testing of memantine." Because the study was so small and the results so modest, Haydar and others emphasized that it would be unwise for people with Down syndrome, their families or physicians to consider taking memantine before much more research is done.
"We still do not know if we have something that will actually work," said Alcino J. Silva, professor of neurobiology, psychiatry and psychology at the University of California in Los Angeles. Even so, Silva added: "In my mind, the big story here is that for the first time we have a logical path that can take us from a mental health problem like Down syndrome into the development of targeted treatments. This is indeed a big deal." Read More...
Pregnancy Blood Test for Down's Syndrome
Thu, 7 Jun 2012 08:02:02 - Pacific Time
An article in NewScientist says that testing whether a fetus has Down's syndrome is getting easier - and less risky. Several companies, all based in California, are launching tests that work on a pregnant woman's blood, rather than requiring an invasive procedure.
Down's syndrome, caused by an extra copy of chromosome 21, is generally detected by amniocentesis, which involves inserting a needle into a pregnant woman's belly to sample cells from the fluid bathing her fetus. It carries a 1 per cent risk of miscarriage and is usually performed between 15 and 20 weeks into pregnancy - which in some US states is right up against the legal time limit for abortion. Chorionic villus sampling, which samples tissue from the placenta, can be performed earlier, but has an even higher risk.
The new tests instead detect DNA from fetal cells that have broken down. Some of this DNA crosses the placenta and gets into the mother's bloodstream, and the tests look for an excess of material from fetal chromosome 21.
First out of the gate was Sequenom of San Diego, which launched its long-awaited test for Down's last October. Verinata of Redwood City released its test in March, while Ariosa Diagnostics of San Jose will launch a test this week; both of these can detect extra copies of chromosomes 13 and 18 too, each associated with distinct chromosomal conditions. Later this year, Natera of San Carlos will market a test that can also detect additional copies of the X and Y sex chromosomes.
Not only do the blood tests eliminate the risk of miscarriage, they are also claimed to have lower error rates than conventional tests. At a conference on prenatal genetic testing at Stanford University in California last week, Kenneth Song of Ariosa said that its test turns up false positives in less than 0.1 per cent of cases - compared with 5 per cent from invasive tests. The other companies report similar results.
The new tests can be run from about 10 weeks into pregnancy. In some US states, the extra time this will allow may be crucial as women decide whether to carry a fetus to term. Nine states currently ban abortions after 20 weeks on the grounds that a fetus can feel pain at this age; 11 others are considering such legislation. Read More...
UK doctors study link between Down syndrome and Alzheimer's
Wed, 24 Aug 2011 08:11:24 - Pacific Time
Individuals with Down syndrome are living longer than ever, and they face increased risks of age-related conditions such as Alzheimer's disease. In fact, due to an extra copy of a chromosome, people with Down syndrome produce extra Alzheimer's-linked proteins in their brains. Like all people with Alzheimer's disease, people with Down syndrome develop plaques and tangles in their brains, but they do so at a younger age than people who don't have Down syndrome. Research has shown that virtually all individuals with Down syndrome have Alzheimer's-like changes in their brains by age 40, although they might not develop dementia until age 50 or later. During this approximately 10-year period, although the brain appears to have protein changes consistent with dementia, individuals continue to function at their usual levels. This same thing occurs in the general population, as many participants in the UK Sanders-Brown Center on Aging brain donation program come to autopsy with full-blown Alzheimer's pathology in their brains but no record of clinical dementia symptoms during life. Working to understand how the brains of individuals with Down syndrome adapt to aging might hold keys to unraveling the mysteries of Alzheimer's disease. If we as investigators learn how people can continue to function normally while their brains develop physical manifestations of Alzheimer's, we might be one step closer to heading off dementia in millions of people. Because the brain aging process is in many ways accelerated in people with Down syndrome, working with these individuals is an ideal way to study how we can prolong normal brain function for individuals with Down syndrome and the general population. To this end, researchers are conducting a study involving participants 35 and older who have Down syndrome. The study is funded by the National Institute of Child Health and Human Development. Participants are asked to come to the University of Kentucky every six months throughout the five-year study to give a blood sample, take thinking and memory tests, have a neurological exam, and undergo a MRI brain scan. The goal is to recruit and study 40 adults with Down syndrome who do not have signs of dementia, and 10 to 12 adults with Down syndrome who have been diagnosed with dementia. Those who already have dementia will come to UK only once. While adults with Down syndrome are predisposed to Alzheimer's disease, there is hope. We are learning much from their experiences and hope that our research will result in knowledge that can improve the quality of life for individuals with Down syndrome and their families, and for those with Alzheimer's and related dementia. Read More...
UAE sees high rates of Down Syndrome
Tue, 4 May 2010 07:29:52 - Pacific Time
The risk of a child being born with Down Syndrome, a genetic disorder that causes lifelong damage to mental development, increases with the age of the mother. Globally, about one in 800-1,000 newborns have Down Syndrome. A study published in 2007 that looked at more than 63,000 newborn babies in Dubai between 1999 and 2003 estimated Down Syndrome incidence at one in every 449 live births, with the rate among nationals at one in 319. "This was very alarming," said Dr Eman Gaad, the director of disability services at the Community Development Authority. "Many children [with Down Syndrome] are born to young parents, but the only factor we can put our hands on is the maternal age of mothers." The same study concluded that more than 41 per cent of Emirati mothers were over 35, the age at which Down Syndrome risk increases. "At the moment girls are getting an education. By the time she graduates from university and finds her soulmate, we’re talking about the late twenties, not like before," said Dr Gaad, speaking a week after she addressed a Down Syndrome symposium that tackled the rights of children with disabilities. A woman is under "tremendous pressure to have more babies" in a society that understandably wants to grow, she added. "It’s okay to have a child or two or five, but once you hit 40 you have to be really careful," she said. Read More...
Citing Trig, Palin Says “Give Health Care Reform a Chance”
Thu, 1 Apr 2010 06:54:13 - Pacific Time
Citing her son Trig having Down syndrome, former GOP Vice-Presidential candidate and Tea Party icon Sarah Palin told an audience in Waco, Texas today that she thinks health care reform deserves a chance to succeed: "I’ve always said that kids with special needs deserve special help. And if the recent health care legislation can help kids like Trig, it deserves a chance." While some Tea Party members accused Palin of “flip-flopping” on health care reform, Sean Hannity of FOX News disagreed: “Sarah Palin is not the extremist that much of the media likes to portray her and she supports bipartisan solutions when they make sense.” On the heels of last weekend’s campaign appearance for John McCain, Palin appears to be moving to expand her base in preparation for her expected presidential run in 2012. Progressives may be underestimating Sarah Palin. Long viewed as too uninformed and extremist to win a national election, Palin is repackaging herself as a moderate – without jeopardizing her conservative base. Read More...
Advice on who should consider genetic testing
Wed, 17 Feb 2010 09:59:46 - Pacific Time
Inherited diseases such as cystic fibrosis often occur in families with no known risk for them. Gene mutations can pass silently for generations until two carriers mate; then children have a one-in-four chance of getting the disease. Some insurers cover genetic testing to see if parents carry a gene, and prenatal testing to see if a baby has a disease or a condition like Down syndrome. The risk of certain genes varies by racial and ethnic groups. The American College of Medical Genetics says that women who are pregnant or considering pregnancy should be offered testing for cystic fibrosis, a lung disease, and spinal muscular atrophy, a relatively common and devastating neurological disorder. If you're an Ashkenazi, or Eastern European Jew, testing for nine diseases is recommended, including the neurological disorders Tay-Sachs, familial dysautonomia and Gaucher disease. Blacks should consider testing for sickle cell disease. Blacks, Hispanics, Asians and Mediterranean people are more likely than other groups to carry genes that cause thalassemia, a serious blood disorder. All pregnant women should be offered testing for Down syndrome, which is caused by an extra chromosome, not hereditary genes. Read More...
High-achieving disabled teens shatter stereotypes
Mon, 15 Feb 2010 06:26:29 - Pacific Time
t would be easy to define 18-year-olds TJ Hancock and Elise Thomas by their Down syndrome -- or by their enviable accomplishments. TJ, whose friends call him "Teej," is a student body officer, manager of Jordan High's basketball team and president of the men's choir. Elise swims competitively for Skyline High School, volunteers at Red Butte Garden and is an accomplished skier. But these talented teens aren't outliers, say their parents and teachers. They embody the culmination of a decades-old trend in special education known as inclusion, or mainstreaming, that education officials say has produced unexpected academic and social gains for countless students. Instead of being segregated in magnate schools or resource classrooms, TJ and Elise were among Utah's first generation of special-needs learners to be mainstreamed starting in kindergarten.They went to neighborhood schools, learning to count and blend consonants alongside their non-disabled peers, exceeding expectations and shattering stereotypes. This spring they'll graduate from high school, proud members of the Class of 2010. "The bar has been raised. We put kids in inclusive settings for social reasons, and they picked up more academics than we thought they would," said Christine Timothy, severe disabilities specialist at the Utah State Office of Education. There are almost 3,200 intellectually disabled schoolchildren in Utah receiving special education services. Increasingly, it is expected that these children will attend mainstream schools. The Individuals With Disabilities Education Act (IDEA), passed in 1990 and amended in 2004, does not mandate inclusion. But it does require school districts to teach disabled children in the "least restrictive environment" possible. Today, 52 percent of Utah's special-needs learners spend most of the school day in regular classrooms, up from 42 percent in 2004. Read More...
Tackling the genetic onset of Down syndrome
Mon, 8 Feb 2010 07:00:30 - Pacific Time
Chromosome 21 is the smallest of the 23 pairs of chromosomes in humans, yet it is responsible for Down syndrome, the most common genetic mental retardation. Down syndrome (DS) is caused by the erroneous replication of human chromosome 21 (HC21), which results in three copies of the chromosome instead of the normal pair of two. The most common cause of this ‘trisomy’ on HC21 is the failure of the chromosome pair to divide in an egg cell, often linked to advanced maternal age. Such an egg cell has two copies of HC21, and when fertilized, accepts another copy of HC21 from the sperm cell, resulting in a total of three, instead of the normal two, copies of the chromosome. Unlocking the molecular pathology of trisomy 21 is greatly anticipated. Worldwide, it is estimated that up to one in every 700 babies is born with DS, and there are no specific therapeutic treatments. Yet little is known as to what determines the various phenotypes associated with the disorder. Patients typically suffer from neurological and behavioral difficulties, including language delays and attention difficulties, and some also face immunological, digestive and cardiac problems. The severity of mental retardation differs by patient and age, sometimes the symptoms are alleviated with age, while for others the symptoms become worse, developing into conditions such as Alzheimer’s disease. "We’d like to understand the molecular pathways responsible for the disease so that we can contribute to the development of effective therapies in the future," says Kazuhiro Yamakawa, head of the Neurogenetics Laboratory at the RIKEN Brain Science Institute in Wako, Saitama. In fiscal 2008, Yamakawa’s team secured a grant from the President’s Fund under the category of ‘challenging research’ for a two-year project aimed at developing a highly efficient system to generate transgenic mouse lines for DS research. Their goal is to establish a high-throughput system to generate partial-trisomic DS mouse models and to identify the gene or genes responsible for DS features. In the 14-member laboratory, which also studies epilepsy, Yamakawa and four young researchers participate in this exciting project. Read More...
News Archive
Studies demonstrate link between Alzheimer's disease, Down syndrome: Thu, 21 Jan 2010 10:42:20 - Pacific Time: Read More...
Special Olympics cuts competitions in many states due to low sponsorhip, fundraising: Fri, 8 Jan 2010 06:11:29 - Pacific Time: Read More...
Down’s Syndrome children ‘prone to heart diseases’: Wed, 6 Jan 2010 07:13:22 - Pacific Time: Read More...
Research Focuses on Helping Parents Adjust to Child’s Down Syndrome Diagnosis: Sun, 20 Dec 2009 18:14:23 - Pacific Time: Read More...
Xenomics Alleges Sequenom Fraud In Down Syndrome Test: Thu, 17 Dec 2009 13:45:04 - Pacific Time: Read More...
A Baby Treadmill Helps Infants with Down's Syndrome: Mon, 14 Dec 2009 03:46:46 - Pacific Time: Read More...
Utah parents find common ground with Sarah Palin: Fri, 11 Dec 2009 07:31:36 - Pacific Time: Read More...
Down Syndrome becoming more prevalent in the U.S.: Wed, 2 Dec 2009 04:20:08 - Pacific Time: Read More...
As Moms Age, More Babies Born With Down Syndrome: Mon, 30 Nov 2009 17:15:21 - Pacific Time: Read More...
Advances in Down Syndrome Research: Sun, 29 Nov 2009 22:39:12 - Pacific Time: Read More...
Down children find adoption doors open: Sun, 29 Nov 2009 09:32:39 - Pacific Time: Read More...
For Kids With Down Syndrome, a 'Ray of Hope': Fri, 27 Nov 2009 20:14:11 - Pacific Time: Read More...
'It was cool' - Touchdown run from prep player with Down syndrome goes viral: Fri, 27 Nov 2009 20:09:56 - Pacific Time: Read More...
Reversing learning impairments in Down Syndrome patients: Tue, 24 Nov 2009 09:24:37 - Pacific Time: Read More...
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| Please See Our Catalog of Books About Down's Syndrome for More Information About This Disorder |