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Related terms: Trisomy 21

Most Families Cherish a Child With Down Syndrome, Survey Finds

Posted 21 Mar 2016 by Drugs.com

MONDAY, March 21, 2016 – Families of children with Down syndrome face challenges, but by and large their experiences are positive ones, a new study suggests. Researchers found that in 87 percent of families they surveyed, everyone – parents and siblings – said they loved their family member who had Down syndrome, and almost as many families said they felt pride for the child. Few families expressed any regret about having a child with Down syndrome, the researchers reported in the April issue of the American Journal of Medical Genetics Part A. The findings are more than "good news" for families, said lead researcher Dr. Brian Skotko. He is co-director of the Down syndrome program at Massachusetts General Hospital, in Boston. Skotko said the information could also help expectant parents who, through prenatal diagnosis, learn that their child will be born with Down syndrome. "When ... Read more

Related support groups: Down Syndrome, Trisomy 18

Gene Abnormality May Be Key to Down Syndrome, Scientists Say

Posted 25 Feb 2016 by Drugs.com

THURSDAY, Feb. 25, 2016 – Researchers say they've discovered a genetic abnormality that affects brain development in people with Down Syndrome, and they say this finding might lead to new treatments. "This discovery of the genetic changes that alter communication within the brain uncovered a completely new target for therapies in the brains of people with [Down syndrome]," study co-leader Tarik Haydar, associate professor of anatomy and neurobiology at Boston University School of Medicine, said in a university news release. His research team compared the activity of genes in different areas of the brain in people with Down syndrome as they grew from infants to adults. They found that the development of white matter – which insulates of brain nerve fibers – changes as people with Down syndrome move from childhood to adulthood. These changes are due to specific development defects in ... Read more

Related support groups: Down Syndrome, Diagnosis and Investigation, Body Imaging, Trisomy 18, Head Imaging

Genetic Abnormality May Explain Health Complications of Down Syndrome

Posted 14 Dec 2015 by Drugs.com

MONDAY, Dec. 14, 2015 – People with Down syndrome have long been known to face a higher risk for a range of other illnesses, including heart disease, diabetes and immune disorders. Now, a new study has honed in on a possible cause: too much of a specific gene that disturbs the peripheral nervous system. The peripheral nervous system is involved in basic organ-related activities. These activities include heartbeat, blood pressure and blood sugar levels, the Johns Hopkins University researchers explained. They looked at tissue samples from both mice and people with Down syndrome. They found that those with Down syndrome carry three times the normal amount of a certain gene called RCAN1. This particular gene helps regulate a protein known as "nerve growth factor." Excess amounts of RCAN1 lower the activity of nerve growth factor, the researchers observed. And that change led to impaired ... Read more

Related support groups: Diabetes, Type 2, Seizures, Heart Disease, Diabetes, Type 1, Down Syndrome, Seizure Prevention, Insulin Resistance, Autoimmune Disorders, Pre-Diabetes, Diabetes Mellitus, Seizure Prophylaxis, Ischemic Heart Disease, Abnormal Glucose Tolerance, Trisomy 18

CDC: Child Autism Rate Now 1 in 45 After Survey Method Changes

Posted 13 Nov 2015 by Drugs.com

FRIDAY, Nov. 13, 2015 – About one in 45 children has an autism spectrum disorder, according to a new U.S. Centers for Disease Control and Prevention survey of parents. This apparent increase is likely due to a change of questions parents were asked about their child, the study authors said. "Probably the most important finding of this paper, which is hardly new, is that how one asks a question matters," said Dr. Glen Elliott, chief psychiatrist and medical director of Children's Health Council in Palo Alto, Calif. "The CDC spends considerable time appropriately emphasizing that the total number of individuals in the three categories covered – intellectual disability, autism spectrum disorders and developmental disability – has not changed," Elliott explained. He added that what did change was the distribution among those groups. The findings were published Nov. 13 in the CDC's ... Read more

Related support groups: Down Syndrome, Autism, Asperger Syndrome, Cerebral Palsy, Trisomy 18

Brain Scans Give Clues to Link Between Alzheimer's, Down Syndrome

Posted 17 Apr 2015 by Drugs.com

FRIDAY, April 17, 2015 – It's long been known that people with Down syndrome are at higher risk for Alzheimer's disease. Now, research suggests that changes in the brains of people with Down syndrome, as seen on brain scans, might help lead to promising treatments that could delay or prevent Alzheimer's. "We and other researchers have been interested in detecting and tracking Alzheimer's, starting before the onset of cognitive [thinking] impairment in individuals at genetic risk for the disease," study senior researcher Dr. Eric Reiman, executive director of Banner Alzheimer's Institute, said in an organization news release. "We have used this approach to help launch Alzheimer's prevention trials in people with other genetic risk factors, and we hope that the same approach can help empower people with Down syndrome in the fight against this disease," he explained. Along with medical ... Read more

Related support groups: Alzheimer's Disease, Down Syndrome

Newer Test for Down Syndrome Called 'Major Advance'

Posted 2 Apr 2015 by Drugs.com

WEDNESDAY, April 1, 2015 – A DNA-based blood test appears to be more effective in detecting possible Down syndrome in unborn children than other screening methods for the genetic disorder, researchers say. The test exhibited perfect accuracy in a clinical trial, detecting Down syndrome in all 38 women whose children had inherited the disorder, the researchers report in the April 2 issue of the New England Journal of Medicine. By comparison, standard screening methods only detected Down syndrome in 30 of the 38 expecting mothers, the study authors said. In the test, clinicians analyze fetal DNA circulating freely in a pregnant woman's bloodstream. Greater quantities of fetal DNA – also called cell-free DNA – in a woman's blood are an indication that her unborn child suffers from Down syndrome, the researchers said. "It is clearly a better test than what we're currently using," said ... Read more

Related support groups: Down Syndrome, Diagnosis and Investigation

A Better Test for Down Syndrome?

Posted 26 Feb 2014 by Drugs.com

WEDNESDAY, Feb. 26, 2014 – A new test that examines fetal DNA from a mother's blood is more accurate at spotting chromosomal abnormalities such as Down syndrome than standard tests offered to pregnant women, a new study indicates. Scientists found that the blood test, known as cell-free DNA, performed up to 10 times better than other noninvasive tests currently used to screen for "aneuploidy" – one or more missing chromosomes that can signal conditions such as Down or Edwards syndromes. Both can cause intellectual and physical disabilities. Infants born with Edwards syndrome rarely live beyond one year. "We had suspected the DNA test would perform well, but what was needed was this head-to-head comparison with the current standard of care," said study author Dr. Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts Medical Center in Boston. "The cell-free ... Read more

Related support groups: Down Syndrome, Diagnosis and Investigation

Alzheimer's Med Seems Ineffective in Those With Down Syndrome

Posted 10 Jan 2012 by Drugs.com

TUESDAY, Jan. 10 – A drug commonly used to treat patients with Alzheimer's disease does not appear to be effective for people older than 40 years who have Down syndrome and Alzheimer's, according to a new study. Although previous animal studies of the Alzheimer's drug, memantine, showed promising results in mice with Down syndrome, this new study of people with Down syndrome aged 40 and older revealed the opposite, the researchers reported in the Jan. 9 online edition of The Lancet. Memantine was given to 88 people with Down syndrome for one year, while another 85 patients received a placebo (the "control" group). Some of the participants had Alzheimer's and some didn't. The investigators found that the brain function of the people in both groups declined equally. Serious adverse effects were experienced by 11 percent of the group that took the medication. Meanwhile, 7 percent of the ... Read more

Related support groups: Alzheimer's Disease, Namenda, Down Syndrome, Namenda XR, Memantine

Down Syndrome Brings Joy, Not Regrets, for Many Families

Posted 30 Sep 2011 by Drugs.com

FRIDAY, Sept. 30 – Louise Borke learned that her infant son had Down Syndrome when he was just a few days old. Her reaction? "Shock and surprise, trepidation and anxiety," she recalls. Today, 22 years later, Borke can look back at life with her son, Louis Sciuto, and say, "It's been fun. It's had its challenges – I won't deny that – but it's been fun. It's been rewarding and I have no regrets." Borke is not alone in her views. In a series of recently completed surveys, 96 percent of parents expressed no regrets about having a child with Down Syndrome and nearly eight out of 10 said the child had enhanced their lives by teaching them patience, acceptance and flexibility, among other things. Siblings had similar feelings, with 94 percent feeling "pride" about their sibling and 88 percent saying the sibling had made them a "better person." And virtually all people with Down Syndrome who ... Read more

Related support groups: Down Syndrome

Noninvasive Test May Identify Down Syndrome Early On

Posted 8 Mar 2011 by Drugs.com

SUNDAY, March 6 – A simple blood test may one day offer a safe way to detect Down syndrome during pregnancy, researchers say. In a small study, an experimental blood test identified a gene mutation associated with Down syndrome with 100 percent accuracy, according to the Cyprus scientists. "Down syndrome is a common birth defect, with one Down syndrome birth in every 600 births in all populations," said lead researcher Philippos Patsalis, chief executive medical director of the Cyprus Institute of Neurology and Genetics in Nicosia. "This is due to an extra chromosome 21, and that leads to physical and mental impairment." "With our method we identify all normal and all Down syndrome [pregnancies]," Patsalis said. Currently, Down syndrome is diagnosed using one of two invasive procedures, amniocentesis or chorionic villus sampling. Because these tests, while 80 percent accurate, carry a ... Read more

Related support groups: Down Syndrome

How Parents Come to Accept Down Syndrome Diagnosis

Posted 8 Aug 2010 by Drugs.com

FRIDAY, Aug. 6 – The negative feelings parents first experience when told their child has Down syndrome in most cases will eventually turn into joy and resilience, U.S. researchers report. The study authors have released preliminary findings of an online survey of parents of children with Down syndrome. The survey, begun in October 2009, drew more than 500 responses. There were many similarities in how parents felt when they learned their child had Down syndrome, said the researchers at Kansas State University and Texas Tech University. "The majority said it was very devastating, and went through periods of depression, grief, mourning and shock, and felt scared, angry, disappointed or helpless," Briana Nelson Goff, associate dean for academic affairs in the College of Human Ecology and a professor of family studies and human services at Kansas State, said in a university news release. ... Read more

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New Down Syndrome Theory Emerges

Posted 27 Mar 2010 by Drugs.com

FRIDAY, March 26 – New research suggests that missing proteins in the brain – not too many genes or proteins, as previously thought – may explain symptoms of Down syndrome. Researchers found that both humans and mice with Down syndrome have lower levels of specific protein in the brain than those who don't have the condition. But an experimental drug returned the protein levels to normal in mouse brains. "We're talking about a paradigm-shifting idea that maybe we should look for underexpressed proteins and not overexpressed proteins in Down syndrome," study senior author Terry Elton, a professor of pharmacology at Ohio State University, said in a statement. "What this offers to the Down syndrome community is the potential for at least five new therapeutic targets to pursue." An estimated 13 out of every 10,000 babies born in the United States has Down syndrome. Those with the ... Read more

Related support groups: Down Syndrome

For Kids With Down Syndrome, a 'Ray of Hope'

Posted 1 Dec 2009 by Drugs.com

THURSDAY, Nov. 19 – New research may provide the foundation for future medical treatment of memory deficits associated with Down syndrome. The research was conducted in mice that were genetically engineered to have a condition similar to Down syndrome, a genetic disorder. It is still not clear if humans would benefit from the findings. Still, the researchers found that mice with the syndrome-like condition could use their brains more effectively when the signaling of norepinephrine, a neurotransmitter that helps nerve cells communicate, was boosted. "If you intervene early enough, you will be able to help kids with Down syndrome to collect and modulate information," Dr. Ahmad Salehi, the study's primary author, said in a news release from Stanford University Medical Center. "Theoretically, that could lead to an improvement in cognitive functions in these kids." Salehi, a research ... Read more

Related support groups: Down Syndrome

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