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Down Syndrome NSW
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Monday, 9 September 2013

Research news update #7 for 2013

Experimental compound reverses Down syndrome-like learning deficits in mice
Johns Hopkins Medicine 4th September, 2013
Researchers at Johns Hopkins and the National Institutes of Health have identified a compound that dramatically bolsters learning and memory when given to mice with a Down syndrome-like conditionon the day of birth. As they report in the Sept. 4 issue of Science Translational Medicine, the single-dose treatment appears to enable the cerebellum of the rodents’ brains to grow to a normal size.

Citation: I. Das, J.-M. Park, J. H. Shin, S. K. Jeon, H. Lorenzi, D. J. Linden, P. F. Worley, R. H. Reeves, Hedgehog Agonist Therapy Corrects Structural and Cognitive Deficits in a Down Syndrome Mouse Model. Sci. Transl. Med. 5, 201ra120 (2013).

This article from the UK NHS cautions against misleading mainstream media headlines claiming that the Sonic hedgehog study (above) is a cure for Down syndrome:
The Mail Online suggests there could be a “cure” for Down’s syndrome, saying that scientists have “discovered a way to reverse the learning difficulties caused by the condition”. It is not apparent from this headline that the research in question was carried out in mice, not people with Down’s syndrome.

How Dow syndrome may help unravel the Alzheimer's puzzle
Linda Carroll, NBC News, 6th September 2013
... “It’s a tantalizing and provocative question: Do people with Down syndrome hold the key to the mystery of Alzheimer’s development?” Dr. Brian Skotko, co-director of the Down Syndrome Program at the Massachusetts General Hospital in Boston, said in a telephone interview. “And what can we learn from those with Down syndrome that will benefit the rest of the population?” ...

The link between Alzheimer's disease and Down syndrome
Maureen Wallace, She Knows - Parenting, 20th August 2013
Does Alzheimer’s disease scare you? Does Down syndrome confuse you? The link between the two should excite every parent or loved one of a child with Down syndrome, because identifying that link means the chances of discovering effective therapies are closer than ever.
International Journal of Nutrition and Exercise Metabolism 2013, 23, 239 – 244
Recent studies have reported that obese young people with Down syndrome suffer from low-grade systemic inflammation. Whereas this condition may be improved in the general population by regular exercise, the problem has received no attention in the case of people with intellectual disability. Therefore, the authors’ aim was to assess the influence of aerobic training on plasma adipokines in obese women with Down syndrome. ...

Tokyo presentation on the Successful Ageing in Intellectual Disability (SAge-ID) project 
3DN (UNSW), 28th August 2013
Dr Anjali Bhardwaj recently attended the IASSIDD Asia-Pacific 3rd Regional Conference in Tokyo, Japan from 21st-24th August, focussing on ‘Multiformity and diversity: Combining individual care and community-based supports’. Anjali presented work on the Successful Ageing in Intellectual Disability (SAge-ID) project currently being undertaken at 3DN. The presentation included results from the pilot study consisting of 112 participants across NSW and Victoria. The paper was very well received at the conference, with a great deal of interest spurred from the work being conducted at 3DN. The presentation can be accessed via this link.

Factors associated with depression and anxiety in older adults with intellectual disabilities 
A large Netherlands study shows that increased anxiety symptoms are related to diabetes in older people with intellectual disability. The researchers conclude that the results highlight the importance and relevance of screening for diabetes in people with anxiety and depressive disorders and vice versa, screening for anxiety and depression in people with diabetes. People with Down Syndrome in the study were found to be less likely to have symptoms of anxiety.  The study is part of the large Healthy Ageing and Intellectual Disabilities Study, led by Prof Heleen Evenhuis at Erasmus University, Rotterdam.
Hermans, H. and Evenhuis, H. M. (2013), Factors associated with depression and anxiety in older adults with intellectual disabilities: results of the healthy ageing and intellectual disabilities study. Int. J. Geriat. Psychiatry, 28: 691–699. doi: 10.1002/gps.3872

Dementia in Down's syndrome: an MRI comparison with Alzheimer's disease in the general population
Diane Mullins et al, Journal of Neurodevelopmental Disorders 2013, 5:19 doi:10.1186/1866-1955-5-19 Published online 20th August 2013
Abstract online. Provisional full text (pdf) is now online, the final draft will be published soon (21/8/2013)

Down Syndrome: The Measure of Intelligence
Vicki Vila, Modern Messy, 20th August 2013
... I discovered that the Down Syndrome Research Group at the University of Arizona is working on this very thing: cutting edge cognitive assessments. The research began a few years ago, and it was big news at that time, so I’m not the first to write about it. But I was curious about the status of the tests, so I contacted Professor Jamie Edgin, a developmental psychologist and one of the group’s lead researchers, and she agreed to an interview.

GONE: 150,000 fewer people with Down syndrome in the U.S.
Mark Leach, Down Syndrome Prenatal Testing, 26th August
The estimated number of people living with Down syndrome in the United States has been 400,000. This number has now been reduced by almost 40 percent. The number 400,000 was based on birth estimates: take whatever the birth estimate was, apply it as a percentage to total number of births and total number of lives, and 400,000 was the number that was arrived at. Last month, the Journal of Pediatrics published online a study that revises this estimate based on two key factors. The new study has already resulted in a revision on the Centers for Disease Control website, which lists the highlights.

Katharine Annear, Ramp Up, 21st August 2013
... Some questions that come to my mind are: Do we want a world without certain types of people? Would we be better off as a society if certain types of people weren't born or could be altered in the very early stages of life through gene therapy? Who decides the research agenda?

National US registry for research into Down syndrome launched.
The US national Institutes of Health has announced the launch of its Down syndrome registry, DS-Connect. This centralized, secure database will link people with Down syndrome and their families to the doctors and scientists working to improve their health and quality of life.
“The new registry provides an important resource to individuals with Down syndrome and their families,” said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which is funding the registry. “The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research.”  DS-Connect

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