+ Big Blueberry Eyes, a finalist for Favorite Special-Needs Parenting Blog.
+ Down Wit Dat - The Group, a finalist for Favorite Special-Needs Online Community.
+ The Sparkle Effect, a finalist for Favorite Special-Needs Regional Resource.
The global community will raise awareness and honor those with Down syndrome during the seventh annual World Down Syndrome Day on March 21. Activities and events will take place in 60 countries, all with the goal of highlighting the talents and accomplishments of people with Down syndrome, one of the most common genetic conditions. Learn more by visiting Down Syndrome International.
Get the facts on Down syndrome.
Voting for the About.com Readers' Choice Awards is underway, and two blogs about parenting children with Down syndrome -- Garden of Eagan and Just a Little Bit Downsy -- are finalists in the category of Favorite Special-Needs Parenting Blog, one of four special-needs categories this year. Read more about the blog contenders, then go to the poll to vote for your choice. You can vote once a day, every day, through March 8.
Just in time for Down Syndrome Awareness Month comes the wonderful story of Monica and David, two people with Down syndrome whose wedding and first year of marriage were turned into a documentary by filmmaker Alexandra Codina. "When Monica and David were born, both mothers were told to institutionalize their children," Codina told Disability Scoop. "To later in life realize that things have evolved and there are opportunities available is very challenging. The solution is not to villainize parents because they need our support just as much as their sons or daughters." Monica & David will premiere on HBO on October 14.
Stories of happy, successful adults with Down syndrome are especially important because the stigma of Down syndrome persists, as shown by this story in the National Post. A Canadian couple who hired a woman to be a surrogate mother for their child. When they found out that the child was likely to be born with Down syndrome, the genetic parents asked the surrogate mother to terminate the pregnancy. She refused at first, but eventually agreed because the genetic parents would not support the child and she was unable to raise the child herself. This sounds like a very difficult and painful situation all around. If they had known that many cases of Down syndrome are mild, lots of resources are available for parents, and many children with Down syndrome can do well in school and grow into adults who lead satisfying lives, might these three prospective parents have made different choices?
For Down Syndrome Awareness Month, reach out to the people around you. Show them what daily life with Down syndrome is really like, help dispel some of those myths, and ask for the support you need. Together we can make the world brighter for people with Down syndrome and their loved ones.
The massive needle infamous for making pregnant women tremble and fathers-to-be pass out may not be long for prenatal testing. Dutch researchers are in the process of developing a blood test that will detect Down Syndrome and other chromosome disorders in the fetus as early as six to eight weeks into pregnancy. The blood test would replace amniocentesis, an optional prenatal test in which amniotic fluid is removed through the abdomen. As it is invasive, amniocentesis has a small risk of miscarriage.
"It is the holy grail of prenatal diagnosis to try and find a reliable method of diagnosing Down's syndrome and other chromosome abnormalities without doing invasive testing," Professor Stephen Robson, spokesman for the Royal College of Obstetricians and Gynaecologists, told the BBC. "This is another technique that could offer the potential to diagnose Down's syndrome non-invasively but it's important to emphasise that it is some years away."
It's a commonly held belief that children with Down Syndrome grow more slowly and tend to be shorter than other kids, but it turns out the recorded data on this aspect of the condition is over a quarter-century old. That's right -- the growth charts that pediatricians are currently using are from the 1980s and earlier. Since then, there have been notable changes in all American children's growth rates, plus significant advances in the treatment of kids with Down Syndrome. It's clearly time for an update.
Enter the Children's Hospital of Philadelphia (incidentally, the U.S.'s first pediatric hospital), which received a four-year, $1.2 million grant from the Centers for Disease Control and Prevention (CDC) to compile new data on the subject. Experts in growth and nutrition, doctors who specialize in Down syndrome, and general pediatricians will all pitch in to chart the new information.
Why are the growth rates of children with Down Syndrome so important? "If we can better understand the growth patterns and the rates of other illnesses that co-occur with Down syndrome, researchers may be better able to plan treatment and design preventive health programs," the grant's principal investigator, Babette S. Zemel, Ph.D., told Newswise. "The CDC has recognized updated growth charts as an important tool for people providing health care to children with Down syndrome."
Over the course of the study, doctors will measure growth, body dimensions and other health information through regular check-ins with 600 volunteers with Down Syndrome ranging from newborns to 20-year-olds. Once the study is complete, the new growth charts will be widely distributed for free.
A recent study published in the Journal of Biological Chemistry is questioning the conventional wisdom of Down syndrome and opening up new avenues of therapy for the disorder.
It is commonly believed that people with Down Syndrome have an extra chromosome but the study, conducted at the Ohio State University, found that a deficiency of a protein in the brain of Down syndrome patients could contribute to the cognitive impairment and congenital heart defects that characterize the syndrome.
Scientists have shown in a series of experiments that there are lower levels of this protein in the brain of humans and mice with Down syndrome than are present in humans and mice without the disorder.
The researchers also found that manually manipulating pieces of RNA that regulate the protein could increase protein levels in both human cell lines and mouse brains. In fact an experimental drug that acts on those RNA segments returned this protein to normal levels in mice that model the syndrome.
When this RNA segment is overexpressed - meaning that more of it is present than needed in a cell - the protein level goes down, or is underexpressed. A total of at least five of these RNA segments are naturally overexpressed in persons with Down syndrome because the segments are housed on chromosome 21 - the chromosome that causes the disorder.
The Centers for Disease Control and Prevention estimates that about 13 of every 10,000 babies born in the United States each year have Down syndrome, characterized primarily by a mild-to-moderate range of intellectual disabilities, possible delayed language development and difficulties with physical coordination.
"We're talking about a paradigm-shifting idea that maybe we should look for underexpressed proteins and not overexpressed proteins in Down syndrome," Terry Elton, senior author of the study and a professor of pharmacology at Ohio State University, told Newswise. "What this offers to the Down syndrome community is the potential for at least five new therapeutic targets to pursue."
Terri Mauro, our Guide to Special Needs Children, has posted details about how you can get involved in this year's World Down Syndrome Day on March 21st -- you'll want to check them out!
Started by Down Syndrome International (DSI), the day is a time to spread awareness of Down syndrome throughout the world and to honor Dr. Lejeune - the physician who discovered the chromosomal basis for this disorder. The date (3/21) was chosen as a reflection of the chromosome abnormality that underlies the diagnosis of Down syndrome - trisomy 21 or 3/21's.
The three were sentenced to six months. A fourth executive was found not guilty.
A new study published online today in the journal Pediatrics has tracked the prevalence of Down syndrome from 1979 to 2003. Their findings show that cases of Down syndrome present at birth have risen from 9.0 per 10,000 live births in 1979 to 11.8 per 10,000 live births in 2003 -- a jump of 31.1 percent.
The study also determined that in 2002, there were approximately 83,400 children and adolescents in the U.S. who were living with Down syndrome (a rate of 1 in 971).
For more information, you can read the abstract here.