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Down Syndrome NSW
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Wednesday 12 June 2013

Research news update #4 for 2013

Constructing Futures: survey of parents' aspirations for young adults with intellectual disabilities
An Australian Research Council Linkage Project in partnership with Endeavour Foundation:
You are invited to participate in a survey aimed at increasing our understanding of what parents hope the lives of their young adult with an intellectual disability will be. 
10 year follow-up on inclusion
Include ... is about helping to build inclusion through staff training, service design support, direct consultancy and service evaluation as well as direct assistance to families and individuals.In 1992 the Disability Discrimination Act was passed which meant that all children with disabilities could attend their local school and classrooms with the necessary supports and changes made to ensure that they could be included. About 10 years ago we surveyed families and schools across Australia asking them to rate how well their STATE was doing on physical, social and curricular inclusion of children with disabilities. 

  • This survey is a repeat of that research to see how we have progressed over the last 10 years.

Targeting an aspect of Down syndrome
Science Codex on 5th June, 2013
University of Michigan researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential therapeutic approaches to an aspect of the syndrome.

Normally, nerve cells called neurons undergo an intense period of extending and branching of neuronal protrusions around the time of birth. During this period, the neurons produce the proteins of the gene called Down syndrome cell-adhesion molecule, or Dscam, at high levels. After this phase, the growth and the levels of protein taper off.

However, in the brains of patients with Down syndrome, epilepsy and several other neurological disorders, the amount of Dscam remains high. The impact of the elevated Dscam amount on how neurons develop is unknown.


Down syndrome neurons grown from stem cells show signature problems
David Tenenbaum, University of Wisconsin-Madison News, 27th May, 2013
Anita Bhattacharyya, a neuroscientist at the Waisman Center at UW-Madison, reports on brain cells that were grown from skin cells of individuals with Down syndrome. "Even though Down syndrome is very common, it's surprising how little we know about what goes wrong in the brain ... These new cells provide a way to look at early brain development."

Cholesterol Increases Risk of Alzheimer's and Heart Disease 
Science Daily 15th April 2013
Researchers at the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have found that a single mechanism may underlie the damaging effect of cholesterol on the brain and on blood vessels. Original article available free of charge on PLOS ONE

Small UK study on speech
A small training study – supported by Down Syndrome Education International – suggests that targeted training can improve blending skills.

The significance of aspects of screening for obstructive sleep apnoea in children with Down syndrome
Sleep problems among children with Down syndrome are commonly reported, but under-researched. This study – supported by Down Syndrome Education International – investigated measures of sleep and daytime behavior for children with Down syndrome.

Sleep Apnea and Its Association to Behavior, Learning Problems, and ADHD
In this study of 263 youth, sleep study and neurobehavioral data was collected twice, five years apart. Twenty-one of the children had persistent sleep apnea throughout the entire study. These children were six times more likely to have behavioral problems when compared to children with no sleep issues. Parent-reported behavioral problems were significantly higher for the children with sleep apnea; these observed problems included hyperactivity, attention deficits, aggressiveness, poorer communication, lower social competency, diminished self-care, and compromised adaptive skills.

Correlations of Autistic Behaviors Shown in Children with Down Syndrome
In a continuation of his research looking at children with a co-diagnosis of both autism spectrum disorder (ASD) and other well-known genetic disorders, Dr. Walter E. Kaufmann and colleagues recently published a study that examined the difference in brain structure between children with either Down syndrome alone and children with both Down syndrome and ASD. Dr. Kaufmann and his research team at the Center for Genetic Disorders of Cognition and Behavior (GCB Center) at the Kennedy Krieger Institute believe this will provide more clues to the cause of autism, and lead to better diagnosis and care of children with both Down syndrome and ASD.

Down Syndrome Research and Treatment's webinars  
... an ongoing series of webinars — web-based audio and slide presentations — with noted cognition researchers. (DSRTF) believes these sessions offer unprecedented access to the scientists who are actively advancing the field.

To listen to past presentations, click on the link. You'll be taken to a new window, where you can play back or download the session

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