Thursday, 6 March 2014

Research news and commentary #4 for 2014

Click on the title link to read the articles:

Can Down syndrome be treated?
Emily Underwood, Science, Vol 343, 28th February 2014
Although the prospect of treating Down syndrome at an early age, or even in the womb is still far off, one geneticist now calls it an 'an achievable goal' ...
An 'excellent four-page piece on the state-of-the-art in Down syndrome research.' Dr Brian Skotko, Massachussets General Hospital Down Syndrome Program.

Family and Community Services (FACS) Analysis and Research Seminar Series - presentation
Assoc Prof Julian Trollor Chair Intellectual Disabiity and Mental Health, Dept Developmental Disabiity Neuropsychiatry (3DN) UNSW, Family and Community Services (FACS) Analysis and Research Seminar Series, Sydney, 27th february 2014
A review of research undertaken by Prof Trollor and his colleagues at UNSW, available to be viewed online
Susan Young, MIT Technology Review, 26th February 2014
... In a study published in the New England Journal of Medicine on Wednesday, DNA-based tests outperformed standard screening methods, which include ultrasound imaging and biochemical test of a mother’s blood ...
Study describes Relationship between Obstructive Sleep Apnea and Cognitive Outcomes
Research Down Syndrome - News, 21st February, 2014
Disrupted sleep is commonly observed throughout the lifespan of individuals with Down syndrome, with an observed incidence of 50-100%. Obstructive sleep apnea syndrome(OSAS) has been demonstrated in studies to be a key contributor to the loss of sleep quality in Down syndrome. OSAS increases with age.

The relation of OSAS to cognitive and behavioral impairment remains poorly understood. This study, supported in part by a Research Down Syndrome grant, describes cognitive outcomes in children with or without OSAS, ages 7-12. The study assessed cognitive outcomes with the Arizona Cognitive Test Battery, a set of psychometric measures that was designed and validated for this group ...

The full text of the paper is available online here.

Jennifer Breslin et al, Obstructive sleep apnea syndrome and cognition in Down syndrome
Developmental Medicine and Child Neurology, January 2014 (Early view. Online Version of Record published before inclusion in an issue)

New Drugs May Transform Down Syndrome
Recent breakthroughs may lead to pharmacological treatments for the chromosomal disorder
Jenni Laidman, Scientific American, Volume 25, Issue 2, 1st Mach 2014
People born with Down syndrome have always been considered to be incurably developmentally delayed—until now. In the past few years a number of laboratories have uncovered critical drug targets within disabled chemical pathways in the brain that might be restored with medication. At least two clinical trials are currently studying the effects of such treatments on people with Down syndrome. Now geneticist Roger Reeves of Johns Hopkins University may have stumbled on another drug target—this one with the potential to correct the learning and memory deficits so central to the condition ...

After More Than 50 Years, a Dispute Over Down Syndrome Discovery
Elizabeth Pain, Science Now, 11th February 2014
It would have been a personal triumph for Marthe Gautier, an 88-year-old pediatric cardiologist and scientist living in Paris. On 31 January, during a meeting in Bordeaux, Gautier was to receive a medal for her role in the discovery of the cause of Down syndrome in the late 1950s. In a speech, she planned to tell an audience of younger French geneticists her story about the discovery—and how she felt the credit she deserved went to a male colleague, Jérôme Lejeune.

But Gautier's talk was canceled just hours in advance, and she received the medal a day later in a small, private ceremony. The French Federation of Human Genetics (FFGH), which organized the meeting, decided to scrap the event after two bailiffs showed up with a court order granting them permission to tape Gautier’s speech. They were sent by the Jérôme Lejeune Foundation, which wanted to have a record of the talk. The foundation, which supports research and care for patients with genetic intellectual disabilities and campaigns against abortion, said it had reason to believe Gautier would "tarnish" the memory of Lejeune, who died in 1994 ...

Patients with learning disabilities become ‘invisible’ in hospitals, says study
St Georges Hospital, University of London - News, 7th January 2014
Patients with learning disabilities become ‘invisible’ in hospitals, says study ...

'Clogged pipleline' may explain Down syndrome leukemia
Josh Barney-Virginia, Futurity, 3rd March 2014
New insight into a mysterious form of leukemia that can appear and then disappear in children with Down syndrome could have implications for other forms of leukemia and even other diseases. Researchers have linked a mutation causing Down syndrome-associated leukemias to abnormalities in cells that produce platelets, called megakaryocytes ...
Radio Australia, 24th December 2013
A team of researchers from Australia and Papua New Guinea has started an innovative study of children with disability in the Pacific ...
Transcript and audiofile (5m 50s)

No comments: