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.

July is Fragile X Awareness Month. The official announcement of this month is set for Tuesday, July 26, 2011.

To learn more about the world’s leading inherited cause of intellectual disability and further ground-breaking research into the condition, or to speak to doctors, patients and families affected by Fragile X syndrome on Tuesday, July 26, contact Denise Vrontas or Kirsten Bruce from VIVA! Communications on 02 9884 9100 or 0414 524 383 / 0401 717 566.

This year we have decided to have the whole month of July a time to raise awareness of Fragile X.  With the Better Start Initiative http://betterstart.net.au/ beginning on July 1st it is appropriate to give the month of July to recognising the importance of raising the profile of this relatively common but largely unheard of syndrome.

This year the actual Fragile X Awareness Day on Juy 22nd is on a Friday which makes it perfect for morning teas, casual workdays and lunches. We encourage you and your work or social community to celebrate and recognise this day at a grass roots level in a casual and friendly fashion to be the host of an occasion like this.  Once again we have posters and brochures, pens and ribbons which we can supply for your fundraising so please contact us if you would like any of these items as well as the guidelines and an authority to fundraise.

Last year we had tremendous publicity with coverage on national television as well as many local media. To view this coverage  click here.

Under the Australian Government’s new Better Start for Children with Disability initiative, children aged under six years who have been diagnosed with sight or hearing impairments including deafblindness, Down syndrome, cerebral palsy or Fragile X syndrome can register to access early intervention funding of up to $12,000 (to a maximum of $6,000 per financial year).

From 1 July 2011, funding will be available for services such as speech pathology, audiology, occupational therapy, physiotherapy, psychology, orthoptics and others. Families will have until their child turns seven to use the early intervention funding.

The Better Start initiative also includes a one-off payment of $2,000 for eligible families living in outer regional and remote areas. As access to services is limited for these families, this payment will assist with travel, home visits and similar expenses.

Eligible children can register for the Better Start early intervention funding by contacting the Registration and Information Service, managed by Carers Australia, from 1 July.

A number of new Medicare items are also being introduced as part of the Better Start initiative. The new items will be available for children up to the age of 15 provided their treatment and management plan is in place before the age of 13. Families will be able to access the new Medicare items from 1 July 2011. The Medicare component of the Better Start initiative is being implemented by the Department of Health and Ageing and further information will be available at www.mbsonline.gov.au and www.health.gov.au

For further information about the Better Start initiative, please visit www.fahcsia.gov.au/betterstart, call 1800 989 530 or email Better.Start@fahcsia.gov.au

If you are a health professional in this field…

The Australian Government is seeking applications from early intervention service providers to join the new Better Start for Children with Disability (Better Start) Service Provider Panel.

Allied health professionals who are qualified and experienced in the disciplines of audiology, speech pathology, occupational therapy, orthoptics, physiotherapy or psychology are invited to apply for membership of the Panel as sole providers.

Multidisciplinary early intervention services and consortia which include or can demonstrate a professional relationship with an allied health professional from the listed disciplines are also encouraged to apply.

For more information about Better Start and the Panel, please visit www.fahcsia.gov.au/betterstart, call 1800 989 530 or email Better.Start@fahcsia.gov.au

The Better Start website

The Better Start website is now up and it gives all the information families will need to know about the Federal Government Initiative http://betterstart.net.au/steps-to-better-start/ Better Start provides services support for children who have the full mutation of fragile X up to the age of six.

The Fragile X Association of Australia will be holding a Fragile  X Research Symposium to give Australian researchers the opportunity to showcase their research and to learn of other research being undertaken in Australia. It is being held prior to The Society of Behavioural Phenotypes (SSBP) 14th International Symposium which will be held in Brisbane from the 5th to 7th October.  More information on the SSBP symposium can be found on http://www.ssbpconference.org/.

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.

We have changed our office location. You can now find us at:
Suite 6, Level 3,
39 East Esplanade,
Manly NSW 2095

Our telephone and fax numbers remain the same:

• Office: 1300 FX INFO (1300 394 636)
• For Fragile X support other times: Mobile: 0409 987 012
• Fax: 02  9976 2396

View Fragile X Association of Australia in a larger map

This wonderful video was created to celebrate Mother’s day. The YouTube video is composed of photos of mothers with their children who are impacted by Fragile X Syndrome. Many of the photos were submitted by parents who are part of the international Fragile X community on Facebook.

Thanks to Holly Roos and Melissa and Eric Wellin for the time, effort and creativity it took you to put this video together.

We would appreciate it if you were to take the time to “Like” the video on YouTube to help raise awareness for Fragile X. To do so, click on the YouTube link that is on the bottom right hand corner of the video above. This will take you to the video on YouTube where you can click on the “Like” button.

If you want to create a YouTube playlist comprised of videos relating to Fragile X for later viewing you can click on the “Add to” button on YouTube and then choose “New playlist” from the drop down menu. To add to your favorites click on the “Add To” button and then on “Favorites”.

For a comprehensive selection of videos relating to Fragile X please see my Fragile X  YouTube playlist