Down's Syndrome News as of Jul 29, 2010
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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...
Researchers hope to help Down syndrome families
Mon, 25 Jan 2010 07:22:20 - Pacific Time
Two researchers, Nicole Springer and Briana Nelson Goff, both of whom have a child with Down syndorme, graduated with doctorates in Marriage and Family Therapy from Texas Tech. They are now conducting research to help parents adjust to a child's Down syndrome diagnosis. "I knew when I got the diagnosis it would take my career in a direction that was centered around special needs or Down syndrome," Springer said. Down syndrome, also called trisomy 21, is a genetic disorder first reported in 1866 by J. Langdon Down, a British physician. Springer and Nelson Goff are asking parents of children with Down syndrome to complete an online survey. They hope to use the information to create a series of books for parents and caregivers, Springer said. While current resources focus primarily on health complications, occupational therapy or physical therapy, Springer said the books she and Nelson Goff have in mind will expand existing resources to include positive views of parenting children with the disorder. "We want to know more about the people who are walking this journey and doing it successfully," Springer said. "We're asking, 'what's going on in the marriage?', 'what is their view of the world?', and 'what is their satisfaction with life?'." Springer hopes the information will offer families who are struggling with the diagnosis a source of hope. qIt's a resource that wasn't available nearly four decades ago, when Gary and Cynthia Coon's son Matthew was born with Down syndrome. Read More...
Studies demonstrate link between Alzheimer's disease, Down syndrome
Thu, 21 Jan 2010 10:42:20 - Pacific Time
Nearly 20 years ago Huntington Potter kicked up a storm of controversy with the idea that Down syndrome and Alzheimer's were the same disease. Now the evidence is in: He was right. And that's not all. Down syndrome, artery-clogging cardiovascular disease, and possibly even diabetes, appear to share a common disease mechanism with Alzheimer's disease, Dr Potter and colleagues at the Florida Alzheimer's Disease Research Centre, USF Health Byrd Alzheimer's Institute, recently reported. The researchers' two papers - one in Molecular Biology of the Cell and the other in PLoS ONE - implicate the Alzheimer's-associated protein beta amyloid (amyloid protein), which damages the microtubule transport system responsible for moving chromosomes, proteins and other cargo around inside cells. Both studies were done in mice and humans cell cultures modelling Alzheimer's disease. Together, the laboratory discoveries suggest that protecting the microtubule network from this amyloid damage might be an effective way to prevent or even reverse Alzheimer's disease and associated disorders. The first paper, by Antoneta Granic and colleagues published online Dec. 23 in Molecular Biology of the Cell, provides the mechanism behind previous work by Dr Potter's laboratory showing that all Alzheimer's disease patients harbour some cells with three copies of chromosome 21, known as trisomy 21, instead of the usual two. Trisomy 21 is a characteristic shared by all the cells in people with the birth defect Down syndrome as well. This earlier work demonstrated that Alzheimer's disease could be considered a late onset form of Down syndrome. By age 30 to 40, all people with Down syndrome develop the same brain pathology seen in Alzheimer's disease, including a nerve-killing buildup of sticky amyloid protein clumps. This contributes to accelerated nerve cell loss and dementia. With the study reported in MBC, Dr Potter and his colleagues now show that the Alzheimer's-associated amyloid protein is the culprit that interferes with the microtubule transport system inside cells. The microtubules are responsible for segregating newly duplicated chromosomes as cells divide. Read More...
Special Olympics cuts competitions in many states due to low sponsorhip, fundraising
Fri, 8 Jan 2010 06:11:29 - Pacific Time
Tommy Sliva takes great pride in his Special Olympics medals because they show he can ski better than many of his friends without special needs. But the 19-year-old with Down Syndrome won't get to compete in the giant slalom at the Indiana winter games this year because they have been canceled. It's been a rough two years for the Special Olympics, which endured the death of founder Eunice Kennedy Shriver in August and has seen sponsorship money dry up because of the poor economy. The Washington-based parent organization lost tens of millions of dollars when the stock market tanked in 2008. And many state affiliates have had to cut costs by trimming staff, canceling entire competitions or eliminating certain events. Kirsten Suto Seckler, a spokeswoman for Special Olympics, said the movement has recently expanded into 20 new countries and now has more than 3 million participants from 160 nations. But she acknowledged that the decline in sponsorship and fundraising has forced some state affiliates to make tough decisions. State affiliates raise their own funds and operate on their own budgets, but they also receive support and programming help from headquarters. Groups across the country say they have tried to cut administrative costs first so that athletes aren't affected. But that hasn't been possible everywhere. In Northern California, a lack of funding forced the cancellation of mountain sports like snowboarding and alpine skiing at its upcoming winter games. Affiliate spokeswoman Kirsten Cherry said it was hard to have to cut events, but that the snow sports were axed because they had relatively few participants and cost a lot. "Most of our athletes are involved in two or three sports. They can move on and still have something to do in the year," Cherry said. She said many athletes were disappointed by the decision but understood the reasons. "They see people losing jobs, they see the cutbacks," Cherry said. Oregon canceled its games last year and doesn't expect to reinstate them this year. But spokesman Mark Evertz said the organization tried instead to send athletes to smaller competitions in the state. Jeff Mohler, vice president for programs for Special Olympics Indiana, said the skiing and snowshoeing events made sense to cut. They were the most expensive events and had seen 20 percent declines in participation each of the last two years. Only 147 of more than 10,000 athletes statewide participated in the two sports. Read More...
Down’s Syndrome children ‘prone to heart diseases’
Wed, 6 Jan 2010 07:13:22 - Pacific Time
Around 50% of children suffering from Down’s Syndrome (DS) have a higher tendency to suffer from congenital heart diseases, a workshop was told. "Some of these children also suffer from gastro-intestinal problems, including duodenal narrowing, thyroid problems and respiratory illnesses amongst others," said Dr Sona Tahtamouni, a paediatrician at HMC. She was speaking at an awareness workshop held by the HMC’s occupational therapy department. "We need to educate parents about the health issues and their root causes, so that the appropriate treatment can be given to these children by parents as well as by healthcare professionals," she said. The one-day event, attended by 30, was one of a series of workshops designed to reach out to parents, particularly mothers of children with DS. The workshop also aims to educate and train parents about rehabilitation techniques. Fatima Mustafa, from the occupational therapy department, stressed the need for holding such workshops regularly, given that they provide an important bridge between the medical profession and the people. A number of lectures presented by paediatrics, occupational therapists, speech therapists and special education specialists, underlined theoretical information and practical methods in facing the challenges of caring for children with DS. The lectures also focused on understanding the root causes and developing the various skills of DS children, whether mental, physical, perceptual, speech, daily living and behavioural problems. The session on medical information provided an overview of the causes of DS and the genes involved, potential congenital abnormalities associated with DS birth and its long-term health effects. Read More...
News Archive
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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