“Modelling the Lifetime Social and Economic Impacts of Fragile X Syndrome and the Benefits of Early Diagnosis and Intervention”

 The December 2009 FXAA newsletter referred to an application to the Australian Research Council for a 3-year PhD scholarship, prepared by Professor Laurie Brown, from the National Centre for Social and Economic Modelling (NATSEM), University of Canberra, and Drs Robyn Iredale and Mike Field and Professor Tim Turpin from the FXAA.

Much to our delight we learned in July 2010 that we were successful. This is very gratifying as it will be the first research of this type on fragile X syndrome in Australia. The lifetime social and economic costs of people with full mutation and pre-mutation fragile syndrome will be quantified.

The ARC will provide $80,000 in scholarship funds, NATSEM will provide $46,500 in financial and other assistance and the FXAA has agreed to contribute $6,000 per year in cash, over three years, as well as provide in-kind support. The latter will consist of the provision of results from the analysis of the Australian and New Zealand survey data, referred to in three of our newsletters, and assistance with identifying suitable case studies to form the basis of the modelling process. Members of the FXAA will also serve on a steering committee for the project.

 We look forward to the outcomes of this project and to support from members. If you are interested in applying for this scholarship details can be found on the University of Canberra website –  http://www.canberra.edu.au/research-students and follow instructions for PhD scholarships 2011.

The new version of our booklet, “Fragile What?”,  is now available for download.

This is an ideal introduction to Fragile X Syndrome which can be handed out to family, friends, teachers, therapists and medical professionals.  Areas covered include:

If you wish to download the booklet in the future it can always be found on our “Resources for Download” page. Please contact the Fragile X Association of Australia if you would like copies of the brochure to give to your GP, school, or office.

On Tuesday July 20th TV channels 7, 9 and the ABC did segments on fragile X syndrome on the Sydney news.  We were very pleased that our probono media advisor, Virginia Nichols, was successful in organising the media launch for Fragile X Awareness Day and wish to thank her for her enthusiastic support and the incredible amount of time that she dedicated to our cause.

You can view the ABC segment  by clicking on this link:  http://www.abc.net.au/news/video/2010/07/20/2959418.htm 

The Fragile X Association of Australia conducted the first national survey of fragile X families in Australia and New Zealand in 2009.  The study is an extension of a survey undertaken in the United States in 2008 by Dr Don Bailey from Research Triangle Institute (RTI).

In the attached newsletter we present a preliminary overview of the demographics of the sample and an overview of attitudes towards testing for FXADs. Two more overviews will be provided in subsequent newsletters: one on education and employment and the other on availability and quality of services. More detailed analysis will be placed on the website in due course.

The Australia and New Zealand Fragile X Family Survey – Preliminary Overview (PDF File)

Books, DVDs, CDs and handbooks on a range of Fragile X topics are available for purchase either via this site, the National Fragile X Foundation in USA and from Amazon. You can find a list of these and details on where to purchase them on our Books and Videos for Purchase page.

Updates:

“Fragile X Syndrome” is a stand-alone interactive CD-ROM integrating the genetics and clinical features of fragile X syndrome. It is produced by Associate Professor Sylvia Metcalf from the University of Melbourne and Dr Jonathan Cohen from the Fragile X Alliance. Version 2 (2009) is now available for purchase from the Fragile X Alliance Please see the order form.

A Medication Guide for Fragile X Syndrome,  by Michael R Tranfaglia MD, is available for download (pdf) from Dr Tranfaglia’s web site,  Dr Mike’s Psychiatry Blog,  for US$14.95. You can still purchase the  hard copy version via our site.

As well as keeping up with National Fragile X Foundation announcements and news on their website you can now follow their news via the new NFXF Twitter page FragileXnews If you would rather read the Twitter updates via a newsreader you can do so via the FragileX news feed. Website news feeds can also be sent to you by email using the online service feedmyinbox

Preliminary results from the US National Fragile X Survey are now available to view on the Fragile X Survey Site. If you want to keep up with further study announcements you can do so on the NFXF National Fragile X Survey page

A new Fragile X Handbook has been published. You can purchase the book from the Fragile X Alliance Inc, (03) 9528 1910,  in Australia or directly from the NFXF on their shopping page, where you can also view the table of contents.

The National Fragile X Foundation has been producing audio webcasts covering various aspects of Fragile X. They are available to listen to from their website on the Prior Audio Webcasts page

Topics to date::

• “Thriving Not Just Surviving: Family Self-Care” with Diane Simon Smith, M.P.H., MA, M.F.T. ,  Carolyn Krull Toennessen, Aerospace Industry Project Manager and Jayne Dixon-Weber, NFXF Support Services Coordinator.
• “Let’s Get Going: Toileting Ideas” with Karen Riley Ph.D. and Cindi Rogers
• “Coping with and Adapting to the FXS Diagnosis” with Brenda Finucane MS, CGC and Joe Garera, Parent and Leader of the Greater Cincinnati & Nth. Kentucky Resource Group
• “Educating Teachers and Students about Fragile X; Why it’s Important and How to do it” – Arlene Cohen and Lisa Kelley, parents of children with fragile X syndrome, share their experiences and techniques
• “ABCs of FXS: Steps for New and Improved Behaviors” with Fragile X specialist, Karen Riley, PhD
• “Fragile X Syndrome: Treatment of Difficult Cases,” – a three-hour webcast broadcast from Children’s Hospital Denver on July 20, 2007

If you want to be kept informed of upcoming webcasts as well as receiving other news from the NFXF please sign up for their email newsletter.