Posts Tagged ‘
Down Syndrome ’
Thursday, July 18th, 2013
A potentially game-changing discovery on the developmental and intellectual disorder Down syndrome has been made by researchers at the University of Massachusetts Medical School, who were able to shut down the “extra” chromosome that causes the disorder using human cells grown in a laboratory dish. It is a finding that medical experts are causing “revolutionary,” as The Boston Globe reports:
“It really is revolutionary, in terms of causing us all to rethink the one impossible thought—can you make, functionally, that extra chromosome disappear,” said Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital, who was not involved in the new study. “I don’t think any of us thought it was possible or even within the current realm of scientific dreaming that we might one day be able to do it.”
The discovery, published Wednesday in the journal Nature, highlights a broad shift in how scientists, doctors, and families view Down syndrome. In the decades since the chromosome abnormality was identified in 1959, there had been little serious talk about trying to treat its complex underlying biological cause. But research and advocacy are beginning to change the discussion: At Mass. General, two clinical trials of drugs intended to improve the cognitive capacities of adults with Down syndrome are set to start in the next few months.
The hope is that drug therapies, even given in adulthood, could partly restore normal function in the brains of people with Down syndrome. But the condition alters brain development in the womb, so some scientists believe that to be most effective, therapies would need to be administered during pregnancy. Nobody is sure whether the UMass technique could ever be leveraged as a treatment either.
Two drugs will be tested at Mass. General, one made by the Swiss pharmaceutical company, Roche, and another by Elan Corporation in Ireland.
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The idea of treating the core problems of Down syndrome and not just the medical problems that accompany it, appeals to families, even though such drugs would be unable to reverse all the developmental problems.
Image: Laboratory dishes, via Shutterstock
Thursday, September 6th, 2012
A California couple says their 16-year-old son wasn’t allowed to board a plane last weekend because airline employees described him as a “flight risk.” But Joan and Robert Vanderhorst believe they were actually removed from the American Airlines flight from Newark, New Jersey to Los Angeles because employees did not want their son Bede, who has Down Syndrome, to sit in first class. The New York Daily News reports:
Bede and his parents had been in Jackson, N.J., visiting family and were eager to make the long return flight home. On a “lark” they had even upgraded their seats to first class, shelling out an extra $625 dollars.
“My wife said, ‘oh Bede’s never flown first class,’ he’ll be so excited.”
Vanderhorst said Bede, a freshman in high school, has flown “at least 30 times” through his life and has never caused any trouble.
Nothing was different before Sunday’s flight, he said. Bede was sticking close to his parents and was not acting unruly, nor was he upset.
But as the family waited to board, an American Airlines official pulled them aside and said the pilot had observed Bede and didn’t feel safe allowing him on the plane.
The airline told the Daily News that Bede was “agitated” in the waiting area. “Asking the family to take the next flight was a decision that was made with careful consideration and that was done based on the behavior of the teen,” the airline said. The family was escorted away from the gate by police, and rebooked on a United Airlines flight. Bede’s parents are considering a lawsuit accusing the airline of violating the teen’s civil rights and the Americans With Disabilities Act.
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Friday, April 20th, 2012
A high-school junior with Down syndrome, who has played on his school’s basketball and football teams, may have to sit on the sidelines for his senior year because he has turned 19 and now violates the maximum age allowed by the school district.
Eric Dompierre attends Ishpeming High School in Michigan, where he has experienced some thrilling moments in sports, including scoring a 3-point shot in basketball and kicking a field goal in football. His parents have always been thrilled and grateful for his acceptance and level of participation, and they are fighting to allow him to play during his senior year. From CNN.com:
According to the constitution of the Michigan High School Athletic League, students who turn 19 before September 1 are not allowed to compete in sports. The rule is intended to prevent the possibility of injury or competitive advantage from an older more developed athlete playing against younger students.
For the past two years Eric’s parents, with the support of the Ishpeming High School District have tried to get the rule changed so Eric can play during his senior year.
But a committee with the Michigan High School Athletic Association has refused two proposals which would allow kids like Eric to participate.
James Derocher is the president of that committee says “our members have to change the constitution and at this point in time they’ve told us ‘no.’ ”
Derocher says one of the concerns is that if they let Eric play, other 19-year-olds may come along in the future and claim a disability for a competitive advantage.
Image: Football, via Shutterstock.
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Thursday, November 3rd, 2011
Thirteen percent of American families include children with physical or developmental disabilities, but those families are left out of education and action campaigns around the obesity epidemic, a report from a special-needs advocacy group says. The findings have led AbilityPath.org, an online resource and social community for parents and professionals serving the needs of adults and children with disabilities, to release a report called Finding Balance, with the goal of raising awareness of obesity among kids with autism, Down syndrome, and other disabilities, and offering tools to parents to help combat obesity in their families.
According to the Centers for Disease Control and Prevention (CDC), children with disabilities are 38% more likely to be obese than their counterparts. “As a community, we must recognize the special dangers that obesity presents to our children,” says Sheryl Young, CEO of Abilitypath.org, “This is an epidemic in our own homes and we can and must find solutions.”
The report provides more startling statistics:
- 67.1% of the teens with autism spectrum disorder were either overweight or obese.
- 86.2% of the teens with Down syndrome were either overweight or obese.
- 18.8% of the teens with cerebral palsy were either overweight or obese.
- 83.1% of the teens with spina bifida were either overweight or obese.
- 39.6% of the teens with intellectual disability were either overweight or obese.
Food aversions are common among special-needs children, among other reasons because medications often have appetite-altering side effects. Mobility limitations also make it difficult for many children to be active enough to maintain a healthy weight. Increasing accessibility for play spaces, and including special-needs children in obesity studies and policy conversations are among the recommendation the report makes.
The report, which is in collaboration with Special Olympics and Best Buddies International, can be downloaded at the AbilityPath website.
(image via: http://stanfordmedicine.org/)
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Autism, autism spectrum disorders, cerebral palsy, disabilities, Down Syndrome, obesity, special-needs, spina bifida | Categories:
Child Health, Must Read, Parenting News, Parents News Now
Tuesday, June 14th, 2011
The Associated Press is reporting that a new blood test, performed only 9 weeks into a pregnancy, may be able to accurately detect Down syndrome. Current screening for the chromosomal abnormality, which causes serious intellectual and developmental disability, starts with a blood test and is followed by an amniocentesis at four months gestational age.
Amniocentesis, in which a needle extracts amniotic fluid to test for Down syndrome and other diseases, poses a small risk of miscarriage, as does the similar procedure known as CVS (chorionic villus sampling). According to the Boston Globe:
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Companies are racing to market a more accurate blood test than those available now that could spare many women the need for the other two tests. It would retrieve fetal DNA from the mother’s bloodstream, and the answer could come before the pregnancy is obvious to others.
Current screening has already reduced the number of babies born with the syndrome, which now stands at about 6,000 each year in the United States, or about 1 in every 691 babies, said Dr. Brian Skotko, a Down syndrome specialist at Children’s Hospital Boston.