Dr Don Bailey (middle) with Australian Fragile X families

The National Fragile X Survey will continue until September 2009 and is the first national study of families in Australia and New Zealand who have a child/children with Fragile X. Dr. Don Bailey, an expert in Fragile X research at R.T.I (Research Triangle Institute) International , is directing the study. The confidential results from the survey will then be shared with Fragile X organisations, researchers and legislators to help amend policy and improve practice. This study is extensive and will take a substantial amount of time, however the results are imperative in forming a national picture of the needs of families with a child/children who has Fragile X. Participation in the study is voluntary and you have the right to stop at any time. In addition, you may choose to skip any questions which you don’t want to answer. If you are unable to access the internet to complete this online survey a confidential phone interview can be arranged through contacting Jocelyn on 1300 394 636. The online survey can be accessed by clicking on the following link:

https://fragilex.rti.org

If you have any questions regarding your rights as a survey participant or any other issues please contact Jocelyn on 1300 394 636.

Fragile X Syndrome has been receiving more media coverage in Australia recently. This is excellent as increasing awareness and knowledge about the syndrome will lead to more people being correctly diagnosed and to an increase in resources available for research, treatment and education

May’s edition of Cleo, which is out now, features an interview with Megan Levy, a 23 year old Australian woman who has the full mutation of Fragile X. Titled “I have FRAGILE X SYNDROME!” Megan talks about her symptoms and how Fragile X affects her life in regard to employment, relationships and socializing. Well done Megan, thank you for sharing your experiences with us.

That’s Life Magazine published an article in Issue 10 March 2009 featuring Mel Mikkleson and family. A summary can be found on the That’s Life site: My Son’s X Factor. Mel was contacted by That’s Life after she featured in a story about Fragile X in her local newspaper. Mel who is on our committee and runs the Queensland support group always works hard to promote knowledge of Fragile X.

In The Australian newspaper an article published in February, Screening for fragile X sidelined, features discussion by Don Bailey, president of the US National Fragile X Foundation, clinical geneticist Mike Field and associate professor Sylvia Metcalfe, from the University of Melbourne and Murdoch Children’s Research Institute on the issue of screening newborns. John Kelleher, president of our Association, and his wife, Christine, talk of their own experiences and problems of receiving late diagnoses for their two children with Fragile X syndrome.

A new page has been added to our site, Helping and Understanding Adults at Work. A downloadable version is also available at How You Can Work Well with Jane or John .

Although focussed specifically on adults in the workforce, the information is useful for everyone; to help us understand and deal with male and female adults with Fragile X, especially those affected mildly.

The article discusses strengths and learning difficulties, personality traits, sensitivities, socializing, communicating and tasks and gives useful pointers on how we can help to overcome or reduce difficulties.

This week’s edition of That’s Life magazine features an interview with Mel Mikkleson, who coordinates the Queensland Fragile X support group and whose son, Tom, is affected by Fragile X. She talks about his early development, her feelings on receiving the Fragile X diagnosis and its symptoms.

You can read a summary of the article on That’s Life website at My son’s X-factor. The article itself is on page 14, Issue 10, of That’s Life magazine which is out today.

Well done to Mel, on her excellent efforts in raising awareness for Fragile X.

The newest video on Katie Clapp’s FRAXA YouTube Channel is "First Down Towards a Cure for Fragile X". Families and professionals talk about their experiences of working with and caring for children with Fragile X syndrome and their hopes that research will find a cure within their lifetime.

You can find a list of videos relating to Fragile X on our video page. These are videos that have been added to the Fragile X YouTube Group. Membership of the group is open to all and new videos can be submitted by members.

Katie Clapp, M.S., is President and Executive Director of FRAXA Research Foundation and a a parent of two children who have Fragile X. Katie, along with her husband, Michael Tranfaglia, MD, and another mother of an affected child, Kathy May started up the Foundation in 1994.

FRAXA’s mission is to accelerate progress toward effective treatments and a cure for Fragile X, by funding the most promising research. FRAXA has, to date, funded $15 million in research.

Children with Fragile X vary greatly in their abilities and degree of difficulties. Normal IQ testing is often inaccurate because these tests are based on the performance of children without disabilities.

David Hessl, from the UC Davis M.I.N.D. Institute, and a team of researchers have devised a new method of testing. David, who works with children with Fragile X Syndrome, says that the present reports "don’t tell parents anything about their child" He says that if the new method is approved for use:

• "we will be able to tell parents something more useful and more accurately diagnose and treat young children who are learning disabled" and that
• The new test scores " tell us more precisely how a child with fragile x syndrome deviates from the normal population in every sub-test area"

Having a more accurate picture of a child’s capabilities will be useful in determining the most appropriate treatment, therapy and educational strategies. David is hopeful that someday soon he will get permission to use his new scoring method when treating his patients. The methods have potential for use with the testing for those with other intellectual disabilities.

You can read more about the new method at the University of California Newsroom and in a study published online by the Journal of Neurodevelopmental Disorders

David Hessl is an associate professor of clinical psychiatry and a researcher at the UC Davis M.I.N.D. Institute. Additional UC Davis researchers include M.I.N.D. Institute medical director Randi Hagerman; M.I.N.D Institute researcher Andrea Schneider; biochemistry and molecular medicine associate researcher Flora Tassone; and Danh Nguyen, associate adjunct professor of public health sciences. Other investigators included Damla Senturk of Pennsylvania State University, and Amy Lightbody, Allan Reiss and Scott Hall, all of Stanford University.

This wonderful poem was written a few years ago by a member of our forums, who kindly allowed me to post it here. I can relate to the world that the Internet opened up for me with regard to Fragile X – a world of information, knowledge and support. This is continuing with the forums here with the help of its members and their contributions. I would like to thank you and wish you and all our regular news readers a very happy Christmas season

Studies have shown that female carriers of Fragile X with the pre-mutation have a higher incidence of Primary Ovarian Insufficiency (POI)*, early menopause and.ovarian dysfunction (decreased fertility).

The average age of menopause is around 50 years with the majority going through it the 45-55yr age range, some as young as 40, others as old as 60. Menopause before the age of 45 is considered to be “early menopause”. After menopause the ovaries stop functioning completely. With POI the ovaries stop functioning normally in a woman under the age of 40. Symptoms of the premenopausal time, often referred to as “going through the change” are very similar to those in POI.

Although POI often leads to an early menopause they are not the same. Women with POI may still become pregnant as their ovaries may still release eggs. In some cases menstrual cycles may start again after they have seemingly finished which cannot happen in menopause. Pre-mutation carriers of Fragile X can also experience milder forms of ovarian insufficiency where there are no menopausal like symptoms but there is difficulty becoming pregnant.

How common is POI in Fragile X Carriers?

Studies indicate that:

• Between 21-28% of women who are premutation carriers of Fragile X experience POI compared to around 1% of women in the general population – Primary Ovarian Insufficiency (POI) and Fragile X on the NFXF site
• 13.8 percent of women with a family history of POF, and 2.1 percent of women without a family history of POF may be carriers of Fragile X NICHD
• Menopause occurs 6-8 years earlier than women in the general population Causes of Premature Menopause

Research

• Confirmation of early menopause in fragile X carriers “Fragile X carriers have a mesendian age of menopause 6 to 8 years earlier than women in the general population, with 28% experiencing premature ovarian failure defined as menopause before the age of 40 years” A study by M. W. Partington 1 *, D. York Moore 2, G. M. Turner 1 Hunter Genetics, Newcastle, New South Wales, Australia, UK Fragile X Society, Hastings, United Kingdom. Published in American Journal of Medical Genetics Part A Volume 64 Issue 2.

More information:

• Menstrual Cycles, the FMR1 Premutation,
  and “Primary Ovarian Insufficiency” – an article in the March 2007 edition of The National Fragile X Foundation Quarterly written by Lawrence M. Nelson, MD (a pdf document )
• Facts about Primary Ovarian Insufficiency (POI) and Primary Ovarian Insufficiency (POI) and Fragile X on the National Fragile X Foundation site
• Early Menopause- a website of The Jean Hailes Foundation for Women’s Health, Australia has a great deal of information on symptoms and management including downloadable factsheets

* Note: You may see POI referred to as Premature Ovarian Failure (POF) – The US National Institutes of Health and therefore National Fragile X Foundation now use the term POI