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Most Families Cherish a Child With Down Syndrome, Survey Finds

Posted 21 Mar 2016 by

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

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

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

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

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