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Wednesday 1 June 2016

Research news and commentary #6 for 2016

Lines of Inquiry, June 2016
Newsletter, Centre for Applied Disability Research

Research on experiences with mental health and challenging behaviour services
NSW Council on Intellectual Disability e-news, May 2016
Macquarie University is seeking parents and guardians of adults with intellectual disability to complete a survey about experiences accessing mental health/challenging behaviour services.

To complete the survey click here.

If you would like further information, please contact Joyce Man by email: joyce.man@students.mq.edu.au

Anxiety among children with mild intellectual disability
NSW Council on Intellectual Disability e-news, May 2016
The University of Technology Sydney (UTS) is looking for feedback on a new program that has been created to treat anxiety in children with mild intellectual disability. UTS would like to hear from parents and professionals who work with children with intellectual disability.

Contact Anastasia Hronis for more information by email anastasia.Hronis@uts.edu.au

Same gene links blood sugar problems in Down syndrome and Type 2 diabetes
Eureka Alert, 19 May 2016
Overexpression of RCAN1 gene reduces insulin secretion in both disorders.

Problems with insulin secretion experienced by people with Type 2 diabetes, parallel similar problems with insulin-secreting beta cells in many individuals with Down syndrome. A new study, published on May 19 in PLOS Genetics by Professor Damien Keating of Flinders University and colleagues, has used this knowledge to identify a single gene that may cause these problems ...


Freely available article in PLOS Genetics
Citation: Peiris H, Duffield MD, Fadista J, Jessup CF, Kashmir V, Genders AJ, et al. (2016) A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes. PLoS Genet 12(5): e1006033. doi:10.1371/journal.pgen.1006033

Reasons for accepting or declining Down syndrome screening in Dutch prospective mothers within the context of national policy and healthcare system characteristics: a qualitative study
Neeltje M. T. H. Crombag et al, BMC Pregnancy and Childbirth, 26 May 2016 (online) DOI: 10.1186/s12884-016-0910-3
Abstract: Uptake rates for Down syndrome screening in the Netherlands are low compared to other European countries. To investigate the low uptake, we explored women’s reasons for participation and possible influences of national healthcare system characteristics. Dutch prenatal care is characterised by an approach aimed at a low degree of medicalisation, with pregnant women initially considered to be at low risk. Prenatal screening for Down syndrome is offered to all women, with a ‘right not to know’ for women who do not want to be informed on this screening. At the time this study was performed, the test was not reimbursed for women aged 35 and younger.
  • The full text of the paper is provided free online by Bio Med Centre (Open access Publisher)
Chromosome 21?: UCI researchers studying link between Down syndrome and Alzheimer's
Courtney Perkes, The Orange County Register, 24 May 2016
... (University of California) Irvine has received $4.7 million from the National Institute on Aging to launch a five-year study this summer aimed at identifying who with Down syndrome is most at risk for developing dementia.

“I think the urgency in part reflects the urgency of Alzheimer’s research,” said Dr. Ira Lott, a pediatric neurologist and lead researcher. “Alzheimer’s is a tremendous national problem. Many people with Down syndrome live productive and happy lives. To have that cut off prematurely by Alzheimer’s disease is a tragedy that we’re trying to prevent.”

The findings could result in better treatment options and yield discoveries that would also benefit the general population ...

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