The publication of Dr Godler’s paper detailing these findings has sparked a flurry of media reporting about the testing, serving to increase the awareness of Fragile X in the community.

If you would like to read more, below is the media release from the Murdoch Children’s Institute as well as some of the resulting media.

The story was covered across Australia in both radio and print media  including stories in the Melbourne Herald Sun, Gympie Times, The Melbourne Age, ninenewsmsm.com.au, WA Today.com, Sky News.com.au, Newsmedical.net, bigpondnews.com, The Hobart Mercury.

Innovative test could revolutionise Fragile X screening and diagnosis

Gympie Times Thursday Jan 19 2012 – Aussie Fragile X Test

Herald Sun Thursday 19 Jan 2012 – Help_for_fragile_X_victims

The Age Thursday 19 Jan 2012 – Breakthrough_in_diagnosis_of_autism

• FragileX Research Symposium Brisbane – Agenda
• An examination of neuromotor and brain ‘signatures ‘ in FMR1 premutation carriers - Rachael Birch
• Novel Technology for Fragile X Population Screening – Dr David Godler, Dr Howard Slater, Dr David Amor, Dr Danuta Loesch

You can always find these and a range of other documents on our “Resources for Download” page

To be eligible to participate in the trial, patients must fit the following criteria:

• Be aged 12-17 in otherwise good general health.
• Have a previous diagnosis of Fragile X based on genetic testing (full mutation)
• Have a caregiver who spends on average at least 6 hours a day with the study participant and is willing to supervise treatment, attend all study visits and assist with study assessments
• Have a documented intellectual disability (IQ score less than 70)

The study lasts for a total of 20 weeks and includes a 3-week screening period, 16 weeks during which patients will receive study drug or placebo and a one week follow up. All patients will receive a placebo at some stage during the study.

If you would like more details on the trial, please contact Dr Natalie Silove at the Child Development Unit on 9845 2829.

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An Australian Study of families who carry the fragile X gene

The Australian Research Council (ARC) has funded a 3 year study to help families, health professionals and educators understand how being a carrier of fragile X impacts on Australian families.

For many years, individuals who carried the fragile X gene (carriers) were assumed to be completely unaffected by any challenges facing individuals who had fragile X syndrome. In recent years a number of overseas studies of families suggest that the carriers may have subtle profiles of strengths and challenges that include very good visual and verbal skills but difficulties in decision making and short term memory skills. However, these studies were only conducted in male carriers and we do not know whether women who carry the fragile X gene display a similar profile. Professor Kim Cornish, Head of School of Psychology and Psychiatry, Monash University, is leading this new Australian study.

We also do not know if there exists different profiles in women who carry the fragile X gene and have a child/children with fragile X syndrome compared to women who carry the gene but do not have a child with fragile X syndrome. For the first time, in one Australian research study, we will be able to identify commonalities in profiles between men and women who carry the fragile X gene and also highlight important gender differences.

• In Australia we estimate that hundreds of families will have a member who is a carrier of fragile X.
• It is vital that we gather as much knowledge as possible about being a fragile X carrier across the lifespan so we can inform all families about what to expect and how best to intervene.
• Understanding how motor skills, language skills, decision making skills and your well-being changes with age will provide invaluable information that will help future generations.

The Step Ahead project is based at Monash University in Melbourne and they are looking for carriers of fragile X syndrome to participate in their study. Travel costs and additional costs incurred because of your participation will be covered.

If you are interested in the Step Ahead Project please contact Claudine Kraan at the School of Psychology and Psychiatry at Monash University on 03 9902 4162 or claudine.kraan@monash.edu. Alternatively, you may contact Dr Darren Hocking at the School of Psychology and Psychiatry at Monash University on 03 9902 0467 or darren.hocking@monash.edu.

We have invited the leading fragile X researchers and medical professionals in Australia to attend the Fragile X Research Symposium.  The symposium is aimed at fragile X researchers and medical professionals.
Here is a sample of the speakers and topics  they will cover:

• Dr Randi Hagerman, Medical Director of the MIND Institute, UC Davis.USA. – Overview of Treatment Approaches
• Professor Kim Cornish, Head of School of Psychology, Monash University – Fragile X phenotypes: premutation carriers and overview of current phenotyping studies.
• Professor Laurie Brown, NATSEM, University of Canberra – Health economics costing: modelling for service planning and interventions.
• Professor Tim Turpin, Sociologist, University of Western Sydney and
• Professor Robyn Iredale, ANU – Family needs assessment from FXAA 2009 surveyDifferent Methods of Screening: speakers to be confirmed – Including Newborn Screening,   Pre-pregnancy population screening, and Technology for Screening.A representative from the UNSW will discuss their study on male premutation carriers and FXTAS.

The Association is very pleased to welcome Dr Randi Hagerman. Dr Hagerman, M.D. is a Developmental and Behavioral Paediatrician and the Medical Director of the M.I.N.D. Institute at UC Davis to the Fragile X Research Symposium. She co-founded the National Fragile X Foundation in 1984 in Colorado and developed a world-renowned Fragile X research and treatment centre.  In 2000, she moved to UC Davis to be the Medical Director of the M.I.N.D. Institute. Dr. Hagerman and her team discovered FXTAS, a neurological disorder that affects older carriers of Fragile X. She is currently focused on targeted treatments for children and adults with Fragile X syndrome and autism and sees many families affected by Fragile X syndrome and also those affected by Fragile X Tremor/Ataxia Syndrome (FXTAS) and primary ovarian insufficiency (POI).  At the symposium, Dr Hagerman will give an overview of treatment approaches.

Dr Helen Heussler, Developmental Paediatrician, Mater Hospital, Brisbane, will chair a panel discussion on “Clinical Care from a Clinician’s perspective” with other prominent Australian fragile X medical professionals.  This involves a presentation by each of the medical practitioners and a discussion on what they see as the major research priorities for the future.

The day will finish with a discussion on “The Way Ahead” which will review the future of fragile X research in Australia and the best way that researchers and the medical professionals should work together to achieve the best outcome.

FragileX Research Symposium Brisbane – Agenda

To register for the Symposium please click Research Symposium Registration.

We would like to thank the Mater Medical Research Institute for providing the venue for the Fragile X Research Symposium and Novartis for their generous support of the Symposium.

Highlights

• The Honourable Bill Shorten, the Parliamentary Secretary for Disabilities & Children’s Services meets with FXAA committee members.
• The National Library’s PANDORA Archive include our FX INFO newsletter in their archives.
• FX Carrier Support article.
• Hobart Seminar report.
• Australian and New Zealand Fragile X Family Survey
• Article by Marcia Braden, PHD – ‘Reality Check’. Marcia discusses popular parenting advice in relation to children with Fragile X.
• Funding Update
• Strategy Day report
• News from the States

Read the full newsletter:fx info Newsletter Autumn 2010