Thursday, March 28, 2013

This COULD happen to your child

Could this really happen to your child?  You bet.  How do we prevent this from happening to your child?  You tell me?  I am in shock that the people we teach are here to protect our children caused the death of this young man.  What can you do?  What can we do?

Autopsy report gives details in death of man with Down syndrome at Md. theater


Robert Ethan Saylor didn’t like to be touched, and suddenly an off-duty deputy had his hands on him. Within moments, two more deputies would grab him, the four men would fall in a heap on the floor, and Saylor, who had been shouting and resisting their attempts to restrain him, would grow quiet and still.
More than two months after a man with Down syndrome died at the hands of three off-duty Frederick County sheriff’s deputies, these details about his death emerged in an autopsy report released this week. The 11-page report, which offers the most comprehensive account yet on how the 26-year-old who went to see a movie ended up dead, was made available Tuesday, the same day local and national advocacy groups met with the U.S. Department of Justice to discuss the need for better police training.
Saylor, who loved the TV show “NCIS” and was so fascinated with the police that he would sometimes call 911 just to ask a question, had been watching “Zero Dark Thirty” at a movie theater last month. As soon as it ended, he wanted to watch it again. When he refused to leave, a theater employee called three off-duty Frederick County sheriff’s deputies who were working a security job at the Westview Promenade shopping center and told them that Saylor either needed to buy another ticket or be removed. Saylor had gone to the movies with his aide, but a lawyer for Saylor’s family said she was getting the car when the confrontation started.
The autopsy report says that Saylor, who was 5-foot-6 and 294 pounds, had a “medical history of Down’s syndrome with ‘anger issues’ (especially when confronted or touched).”
When one of the deputies asked Saylor to leave, he started yelling and cursing, the report says. As the three deputies tried to restrain him and lead him from the theater, the four fell “on a slightly inclined ramp at the side of the theater” and, during the struggle, the deputies placed three sets of handcuffs on Saylor, it says.
“At some point while restrained and prone, he stopped struggling and was noticed to be unresponsive by the deputies,” the report says. “At some point they rolled him over and could not find a pulse, took the handcuffs off and started chest compressions.”
Saylor was later pronounced dead at a hospital. In February, the state Chief Medical Examiner’s Office in Baltimore ruled Saylor’s death a homicide as a result of asphyxia. Since then, the case has drawn national attention from parents of children with Down syndrome, and more than 1,000 angry messages fill the Facebook page of the Frederick County Sheriff’s Office. One simply reads: “Murderer.” Another: “I will no longer teach my children that the police are their ‘friends.’ ”
The sheriff’s department conducted a criminal investigation into the actions of the deputies — Lt. Scott Jewell, Sgt. Rich Rochford and Deputy 1st Class James Harris — and turned over the findings to the Frederick County state’s attorney’s office. On Friday, State’s Attorney J. Charles Smith said a grand jury convened, hearing testimony from the three detectives and reading 17 witness statements. It concluded that no criminal charges were warranted.
As of Monday, the deputies, who had been placed on paid leave, were assigned to administrative duties pending the outcome of a separate internal investigation, a spokesman for the sheriff’s department said.
The autopsy report, which could not be released until the criminal investigation was closed, says Saylor “was already compromised by his Down’s syndrome, obesity, body habitus, and heart disease, making him more susceptible to sudden death in stressful conditions which would compromise his breathing.” It also details a series of cuts and bruises on Saylor’s body but does not discuss their origin. He had abrasions on his nose, back of the head, abdomen, back and left elbow. He also had bruising on his forehead.
“The bottom line for me is no matter what the mechanism of death was, they should have just walked away,” said Joseph Espo, an attorney for the Saylor family. “He wasn’t bothering anybody until they tried to do something.”
On Tuesday, four groups and representatives of the Saylor family met with the Justice Department for two hours. The discussion centered on the need for a training program for police departments across the country to “prevent another tragedy of this nature happening again in the future, in any town in the United States,” according to a news release from the National Down Syndrome Society on Wednesday.
“Ethan deserved to be a welcomed member of his community,” Sara Weir, a vice president with the organization, said in the release. “We join the rest of the Down syndrome community in their sadness and outrage as we act for positive change.”



Be gentle.

Monday, March 25, 2013

New research Molecular roots of Down Syndrome

I am amazed and fascinated by all of the research and new developments in molecular and genetic medicine. I saw this new research and I hope these scientists are on the right track in understanding m why people with an extra 21st chromosome have mental disabilities.  Even more exciting, the study shows potential therapies to increase brain function in people with this genetic abnormality.

Read this article and let me know your thoughts.........

                 Molecular Roots of Down Syndrome Unraveled


Neurons from a normal mouse (left) are longer and fuller than neurons from a mouse lacking SNX27 (right). (Credit: Image courtesy of Sanford-Burnham Medical Research Institute)
Mar. 24, 2013 — Researchers have discovered that the extra chromosome inherited in Down syndrome impairs learning and memory because it leads to low levels of SNX27 protein in the brain.
What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27. SNX27 production is inhibited by a molecule encoded on chromosome 21. The study, published March 24 in Nature Medicine, shows that SNX27 is reduced in human Down syndrome brains. The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function. What's more, the researchers showed that restoring SNX27 in Down syndrome mice improves cognitive function and behavior.
"In the brain, SNX27 keeps certain receptors on the cell surface -- receptors that are necessary for neurons to fire properly," said Huaxi Xu, Ph.D., professor in Sanford-Burnham's Del E. Webb Neuroscience, Aging and Stem Cell Research Center and senior author of the study. "So, in Down syndrome, we believe lack of SNX27 is at least partly to blame for developmental and cognitive defects."
SNX27's role in brain function

Xu and colleagues started out working with mice that lack one copy of the snx27 gene. They noticed that the mice were mostly normal, but showed some significant defects in learning and memory. So the team dug deeper to determine why SNX27 would have that effect. They found that SNX27 helps keep glutamate receptors on the cell surface in neurons. Neurons need glutamate receptors in order to function correctly. With less SNX27, these mice had fewer active glutamate receptors and thus impaired learning and memory.
SNX27 levels are low in Down syndrome
Then the team got thinking about Down syndrome. The SNX27-deficient mice shared some characteristics with Down syndrome, so they took a look at human brains with the condition. This confirmed the clinical significance of their laboratory findings -- humans with Down syndrome have significantly lower levels of SNX27.
Next, Xu and colleagues wondered how Down syndrome and low SNX27 are connected -- could the extra chromosome 21 encode something that affects SNX27 levels? They suspected microRNAs, small pieces of genetic material that don't code for protein, but instead influence the production of other genes. It turns out that chromosome 21 encodes one particular microRNA called miR-155. In human Down syndrome brains, the increase in miR-155 levels correlates almost perfectly with the decrease in SNX27.
Xu and his team concluded that, due to the extra chromosome 21 copy, the brains of people with Down syndrome produce extra miR-155, which by indirect means decreases SNX27 levels, in turn decreasing surface glutamate receptors. Through this mechanism, learning, memory, and behavior are impaired.
Restoring SNX27 function rescues Down syndrome mice
If people with Down syndrome simply have too much miR-155 or not enough SNX27, could that be fixed? The team explored this possibility. They used a noninfectious virus as a delivery vehicle to introduce new human SNX27 in the brains of Down syndrome mice.
"Everything goes back to normal after SNX27 treatment. It's amazing -- first we see the glutamate receptors come back, then memory deficit is repaired in our Down syndrome mice," said Xin Wang, a graduate student in Xu's lab and first author of the study. "Gene therapy of this sort hasn't really panned out in humans, however. So we're now screening small molecules to look for some that might increase SNX27 production or function in the brain."
This research was funded by the U.S. National Institutes of Health (National Institute on Aging grants R01AG038710, R01AG021173, R01AG030197, R01AG044420; National Institute of Neurological Disorders and Stroke grants R01NS046673, P30NS076411; Eunice Kennedy Shriver National Institute of Child Health & Human Development grant P01HD29587; National Institute of Environmental Health Sciences grant P01ES016738), Alzheimer's Association, American Health Assistance Foundation, National Natural Science Foundation of China, 973 Prophase Project, Natural Science Funds for Distinguished Young Scholar of Fujian Province, Program for New Century Excellent Talents in Universities, Fundamental Research Funds for the Central Universities, and Fok Ying Tung Education Foundation.
The study was co-authored by Xin Wang, Sanford-Burnham; Yingjun Zhao, Sanford-Burnham and Xiamen University; Xiaofei Zhang, Sanford-Burnham; Hedieh Badie, Sanford-Burnham; Ying Zhou, Sanford-Burnham; Yangling Mu, Salk Institute; Li Shen Loo, Institute of Molecular and Cell Biology, Singapore; Lei Cai, Institute of Molecular and Cell Biology, Singapore; Robert C. Thompson, Sanford-Burnham; Bo Yang, Sanford-Burnham; Yaomin Chen, Sanford-Burnham; Peter F. Johnson, National Cancer Institute-Frederick; Chengbiao Wu, University of California, San Diego; Guojun Bu, Xiamen University; William C. Mobley, University of California, San Diego; Dongxian Zhang, Sanford-Burnham; Fred H. Gage, Salk Institute; Barbara Ranscht, Sanford-Burnham; Yun-wu Zhang, Sanford-Burnham and Xiamen University; Stuart A. Lipton, Sanford-Burnham and University of California, San Diego; Wanjin Hong, Institute of Molecular and Cell Biology, Singapore and Xiamen University; and Huaxi Xu, Sanford-Burnham and Xiamen University.

The above story is reprinted from materials provided bySanford-Burnham Medical Research Institute.


Be gentle.

Saturday, March 23, 2013

Did you know? A Down Syndrome fact.

Down Syndrome fact

Physical characteristics of Down Syndrome.

People born with Down Syndrome have some of the same physical characteristics.  It is not understood why these physical characteristics occur.

Down Syndrome

These characteristics include:


  • A flat face with an upward slant to the eye, a short neck, small ears, and a large tongue
  • Tiny white spots on the iris (colored part) of the eye
  • Small hands and feet
  • A single crease across the palm of the hand
  • Small pinky fingers that sometimes curve toward the thumb
  • Poor muscle tone or loose ligaments


Be gentle.

Wednesday, March 20, 2013

Down Syndrome....... So what!

Awareness.  Advocating.  Accepting.  I love the message of the Jerome Lejeune Foundation is spreading for World Down Syndrome Day.


The Jerome Lejeune Foundation, USA Joins Advocacy Organizations Worldwide to Say: Down Syndrome - So What!

March 21 is World Down Syndrome Day. The Jérôme Lejeune Foundation, USA is proud to join with disability advocacy associations from 11 nations in an international campaign to say together: Down Syndrome - So What! http://www.downsyndrome-sowhat.eu



Philadelphia, PA (PRWEB) March 20, 2013
The Jérôme Lejeune Foundation, USA is proud to join with disability advocacy associations from 11 nations (Spain, Portugal, Croatia, the United-Kingdom, Italy, Germany, Poland, Latvia France, Russia, and New Zealand) in an international campaign to say together:
This week, on March 21st the 2nd official United Nations World Down Syndrome Day will be celebrated across the world. This event aims to raise public awareness about Down syndrome and promote the rights, inclusion and well being of people with Down syndrome in our communities.
With advanced methods of prenatal screening available now in the U.S., and soon coming to other countries, World Down Syndrome Day takes on a singular and urgent dimension. The expanded use of early (10 week) non-invasive prenatal tests for Down syndrome threatens to increase the already staggering number of terminations of pregnancies which are prenatally diagnosed. The expanded availability of these new maternal blood tests will almost certainly cause increased terminations, further stigmatization, and rejection of these valuable members of our communities.
Most countries still lack comprehensive health policies to ensure that families who receive an unexpected prenatal diagnosis of Down syndrome are provided with accurate information about positive therapeutic developments and outcomes for those living with Down syndrome. Additionally, efforts undertaken to facilitate integration of persons living with Down syndrome into educational systems and work places remains insufficient.
Parents, first and foremost, need to be provided with a positive and welcoming message when receiving a prenatal diagnosis of Down syndrome. As a society, we should support these families and encourage them to love, welcome, accept and raise a child with a disability with adequate support. Individuals living with Down syndrome and their families are entitled to the same dignity and respect afforded to any other members of society.
In this newly launched awareness campaign, five people of varying ages with Down syndrome representing diverse cultural and national backgrounds call for the attention of the public and their political representatives. Their goal is to lessen the fear of those in society who are uncomfortable with the disabled, especially those living with Down syndrome. Thanks to their beautiful, mischievous and joyful faces, they witness to all of us that happiness is indeed possible for themselves and their families.
On the 21st March, the Jérôme Lejeune Foundation, USA joins with advocacy organizations world-wide to proclaim the same urgent message: Down Syndrome… SO WHAT!
____________________________________________________________
The Jérôme Lejeune Foundation (Paris/U.S) was founded in 1996 and is the world’s largest private funder of Down Syndrome research, providing some $25 million worldwide. In 2010 alone the Foundation invested $4 million in research, and funded over 60 research projects which together are breaking new ground in both the understanding and management of Down Syndrome, Fragile X Syndrome, and other intellectual disabilities of genetic origin. The Foundation’s mission is based upon three closely joined pillars of activity: research, care, and advocacy, all carried out in a spirit of profound respect for the dignity of all human persons.


Be gentle.