Down’s Syndrome News and Research

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Lack of affordable, accessible adaptive clothing creates barriers for people with disabilities

The U.S. clothing industry is a multi-billion dollar industry, but for the millions of Americans with disabilities and their families, a lack of options in the apparel industry presents daily challenges.

15 Jun 2016

Studies explore possible link between pediatric cancer and light therapy for newborn jaundice

Two new studies raise enough questions about a possible link between childhood cancer and light therapy for newborn jaundice that clinicians should exercise caution in prescribing the treatment for infants whose jaundice is likely to resolve on its own, a pediatric oncologist from Dana-Farber/Boston Children's Cancer and Blood Disorders Center argues in an editorial published today by the journal Pediatrics.

23 May 2016

Researchers identify single RCAN1 gene responsible for onset of type 2 diabetes

RESEARCHERS have identified the gene they believe is responsible for the onset of type 2 diabetes, sparking hope for treatments to prevent and possibly reverse the progressive condition.

20 May 2016

Super Suits help improve developmental delays in children

Bulky. Clunky. Cumbersome. Restrictive. Heavy. Robotic. When you think of exoskeletons and medical garments, the first adjectives that come to mind aren't usually positive. In the world of physical therapy, even the best rehabilitation program in the world can't produce results if it's not followed correctly.

18 May 2016

Novel spoken-language intervention could benefit children, adolescents with developmental disabilities

Sean Sawicki, who has fragile X syndrome, can be hard to understand and doesn't always have the attention span to carry on a sustained conversation. But a novel intervention developed by UC Davis MIND Institute researchers seems to be making a difference.

28 Apr 2016

Abnormally active Rab5 protein leads to early development of neurodegenerative disease

Writing in the April 11 issue of The Journal of Clinical Investigation, researchers at University of California, San Diego School of Medicine say abnormalities in a protein that helps transport and sort materials inside cells are linked to axonal dysfunction and degeneration of neurons in Alzheimer's disease (AD) and Down syndrome (DS).

12 Apr 2016

Study shows how Down Syndrome gene associated with altered oscillations in the cerebral cortex

Cerebral activity is governed by a fine balance between neuronal excitation and inhibition. Specifically, neurons are activated by excitation mechanisms tightly regulated by inhibition processes. For certain functions, the neuronal network needs to be synchronized.

6 Apr 2016

Researchers find key brain receptor linked to depression, drug addiction and Alzheimer's disease

Researchers at the University of Colorado Anschutz Medical Campus have found that a key receptor in the brain, once thought to only strengthen synapses, can also weaken them, offering new insights into the mechanisms driving depression, drug addiction and even Alzheimer's disease.

3 Mar 2016

New clinical study reveals previously unknown risk factors linked to keratoconus

A large new study reveals previously unknown risk factors associated with an eye condition that causes serious progressive nearsightedness at a relatively young age.

13 Jan 2016

UTA researchers map out chemical mechanism of key enzyme found in autism, Alzheimer's and Down syndrome

Biochemists at The University of Texas at Arlington are mapping the catalytic processes of sulfur-oxidizing enzymes to improve understanding of the chemical imbalances found in patients with autism, Alzheimer's disease and Down syndrome.

11 Jan 2016

Report uncovers how Down syndrome hampers nervous system that plays key role in health, longevity

While most Down syndrome research has focused on the brain, a new report by Johns Hopkins University biologists uncovers how the disorder hampers a separate part of the nervous system that plays a key role in health and longevity.

14 Dec 2015

New biobank initiative may help unlock some of the mysteries linked to Down syndrome

Nationwide Children's Hospital and research advocacy group DownSyndrome Achieves have joined forces to create the first biobank in the country dedicated to collecting and managing blood samples from people with Down syndrome.

12 Dec 2015

Children with cleft lip or palate and spina bifida at increased risk for abuse

Children born with cleft lip or palate and spina bifida are at an increased risk for abuse before the age of 2, according to researchers from The University of Texas Health Science Center at Houston.

11 Dec 2015

New method may extend use of noninvasive prenatal testing to detect chromosomal abnormalities

Researchers at the University of California, San Diego School of Medicine developed a method to expand the types of chromosomal abnormalities that noninvasive prenatal testing (NIPT) can detect. The study, published November 9 by Proceedings of the National Academy of Sciences, uses a semiconductor sequencing platform to identify small chromosomal deletions or duplications, such as occur in Cri du Chat Syndrome and DiGeorge Syndrome, with a simple blood test from the expectant mother.

10 Nov 2015

Two studies explore potential new blood tests for Alzheimer's disease

There is increasing evidence that the brain changes of Alzheimer's disease begin decades before memory and thinking problems occur, prompting the need for better methods of early detection for this progressive, fatal brain disease. Consequently, there is a growing school of thought that the most effective future Alzheimer's drug therapies will be administered to those who are at high risk of the disease before cognitive symptoms appear.

10 Nov 2015

Patients with Down syndrome face additional challenge of early-onset dementia

Individuals with Down syndrome who survive into adulthood face the additional challenge of early-onset dementia, in which toxic amyloid plaques build up in the brain. The condition is strikingly similar to Alzheimer's disease, and as new work led by researchers at the Lewis Katz School of Medicine at Temple University shows, dementia in Down syndrome involves defects in a regulatory enzyme known as γ-secretase activating protein (GSAP), which also happens to malfunction in Alzheimer's disease.

3 Nov 2015

Divorce rates less among couples who raise children with developmental disabilities

Couples raising a child with developmental disabilities do not face a higher risk of divorce if they have larger families, according to a new study by researchers from the Waisman Center at the University of Wisconsin-Madison.

31 Oct 2015

Researchers develop new growth charts for U.S. children with Down syndrome

Pediatric researchers have developed the first set of growth charts for U.S. children with Down syndrome since 1988. These new charts provide an important tool for pediatricians to evaluate growth milestones for children and adolescents with this condition. With these new charts, pediatricians will be able to compare each patient's growth patterns with peers of the same age and sex who have Down syndrome.

28 Oct 2015

DNA testing for Down's syndrome could potentially save lives of unborn babies

Offering pregnant women a DNA test for Down's syndrome on the NHS would reduce the dependency on invasive tests and potentially save the lives of unborn babies, a study shows.

27 Oct 2015

UConn researchers sequence RNA of most complicated gene

UConn researchers have sequenced the RNA of the most complicated gene known in nature, using a hand-held sequencer no bigger than a cell phone.

From Oxford Nanopore Technologies 12 Oct 2015