Dr David Godler and a team of leading researchers from Murdoch Children’s Institute have developed a innovative new test that could revolutionise the way Fragile X syndrome is screened and diagnosed.

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

New Resources added to our documents for download section:

Fragile X Syndrome Fact Sheet – Learn basic facts about fragile X syndrome. *

Families and Fragile X Syndrome
This booklet from the National Institutes of Health for parents and families explains fragile X, its causes, its symptoms and associated disorders, and its treatments. The booklet also provides snapshots of many families affected by this disorder. *

Do I have Premature Ovarian Failure (POF)?
This booklet from the National Institutes of Health for women and their families explains POF, its possible causes, its symptoms, and its treatments and explains some research on the condition. *

NIH Research Plan on Fragile X Syndrome and Associated Disorders

This scientific plan from the National Institutes of Health (NIH) outlines research goals and objectives on fragile X syndrome and related disorders for the NIH Institutes, including research related to fragile X syndrome and its associated disorders.*

* From Centers for Disease Control and Prevention

The National Center on Birth Defects and Developmental Disabilities (NCBDDD) website includes a very useful section on Fragile X including:

• Facts about Fragile X Syndrome – which includes links to articles on Causes, Inheritance and Treatment (Therapeutic, Educational, Early Intervention)
• Associated Disorders
• Data & Statistics
• Articles
• Free Materials -downloadable fact sheets and booklets
• The video below:

What Causes Fragile X Syndrome

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Fragile X Syndrome – Running Time: (2:31)
Source: National Center on Birth Defects and Developmental Disabilities (NCBDDD)

Visit The NCBDDD Fragile X Section

Dr Michael Field and Professor Kim Cornish have kindly given us permission to upload an article they wrote as an invited contribution to the upcoming website physicalasanything.com.au.

The article gives an excellent overview of Fragile X Syndrome and includes sections on:

• Inheritance
• Challenges and Strenths of Fragile X Students
• An explanation of X-Linked Inheritance
• Female and Male Carriers

Download the Fragile X Syndrome Fact Sheet

Authors

Dr Michael Field
Clinical Geneticist
Genetics of Learning Disability Service
(Incorporating the NSW Fragile X Service)
Royal North Shore Hospital, St Leonards, NSW Australia

Professor Kim Cornish
Developmental Neuroscientist
Head, Discipline of Psychology
Head, School of Psychology and Psychiatry
Monash University, Victoria, Australia

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.

Written by Sue Bride

My online life began primarily as a means to find out more about Fragile X, after my son was diagnosed in 1994. There was so little information available and even the paediatrician who diagnosed him knew only some of the physical signs to look for; just enough to send him for a DNA test. He knew nothing more about the condition itself but thankfully had the contact details for the local, fledgling, support group. There were no books on the subject so I had to learn through scientific publications, mainly found on the internet. Times have changed, thank goodness, and there is so much information available if you know where to go or where to look.

It really pleases me to see that over the last year or so there has been a surge in the number of Fragile X organizations and parents connecting with each other via social networking sites. Facebook in particular has a very active international Fragile X community where hundreds of parents have befriended each other, have joined Fragile X groups and communicate regularly. Fragile X organizations and support groups worldwide have set up Facebook pages to keep their members informed about their activities and about Fragile X in general.

Twitter is also becoming a more important method of communication for Fragile X organizations in particular. This is a good medium for publishing links to news, events and research articles.

Fragile X Australia has its own Facebook Page, Facebook Group and Twitter account . The FB page and Twitter are used by FXAA for announcements, informing of upcoming events and for links to news, articles and publications. Anyone is welcome to add replys to these posts. The group is for parents and carers who can add messages and photos and start or join in discussions.

The National Fragile X Foundation now uses a Facebook Page and Twitter Account, Fragile X News, for their announcements and links to Fragile X related information. They also run the My Fragile X Community support forum which is open to parents worldwide. A recent thread on their Facebook Page is “Get to know other FX friends”

My way of giving something back to the support community, that has helped me so much over the years, has been to help spread awareness and help to connect and inform parents online. I am passionate about trying to ensure that that as many people as possible know about Fragile X and that those impacted by Fragile X can find the help, support and information they need.

To help people find online resources I have created a couple of Facebook pages myself:

Fragile X Links – if you look at the links on the left hand side of the page you will see links to FB Pages which lists Facebook Fragile X pages and groups worldwide and to Blogs which lists Fragile X parents who  run blogs. Coming soon are lists to Twitter resources and to Fragile X organizations and support group websites.

Fragile X Syndrome – This page is updated almost daily and is all about linking to information, news and resources.

To make it easier to keep up with any Facebook and Twitter messages that mention Fragile X I have created two “daily newspapers”: The Fragile X Daily for Facebook and the  fragilex Daily for Twitter.  You can subscribe to these so that you are sent an email each day there is content.

I hope this helps you through the maze of online social networking pages and sites that relate to Fragile X. If you need any more information or help connecting to these sites please send me a message via my own Facebook page.

We are very fortunate in Australia to have some speciality Fragile X clinics. Online support and information is wonderful and I could not do without it as I have a hunger to learn as much as I can. This is only in addition to my son and I getting professional advise, medical treatment and therapy from the Fragile X specialist team. As soon as the clinic opened here in Melbourne I went along for assessments and advice and have gone back on a regular basis over the years. Online medical help is no substitute for face to face treatment. For information about Fragile X Clinics in Australia please look at this website’s Clinics Page

Professor Kim Cornish, a FXAA board member, has had an article about Fragile X,  “ADHD, autism or something else entirely?“,  published by the online news site The Conversation.

Kim, a Developmental Neuroscientist, is Head of Discipline – Psychology, Deputy Head of the School of Psychology and Psychiatry and is the Director of the Developmental Neuroscience and Genetic Disorders Laboratory at Monash University. She is a world-leading expert in genetic disorders, especially Fragile X syndrome. You can find out more about Kim on the Monash University site at Psych: Who is Kim Cornish?

In the article Kim gives a run down on Fragile X Syndrome:  its genetic path, the autism-fragile X link, behavioural challenges, how it is detected and the importance of accurage diagnosis.

The Conversation is an independent source of information, analysis and commentary from the university and research sector.

In this youtube clip Rosie talks about her experience with fragile X syndrome and how it has affected her life. 

TBF – Making The Most Of Life