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.

Note: There is a file embedded within this post, please visit this post to download the file. (PDF File)

This study is the first national survey of families in Australia and New Zealand who have a child with fragile X. The results of the survey will be shared with fragile X organisations, researchers, and legislators to help change policy and improve practice.

Although many studies have been conducted with families of children with fragile X, this study will be the first in Australia and New Zealand to survey a large number of families. Your participation will provide researchers with a national picture of the needs of families with a child who has fragile X.

All information collected will be kept confidential. Your answers will be combined with the information we get from other families and any links to names or addresses will be removed prior to data analysis. Individual answers and names will not be published in any study report or disclosed to any individual or organisation.

ENROL NOW!

To participate, simply visit the website at https://fragilex.rti.org/ and complete the questionaire online or call 1300 FX INFO (300 394 636) to arrange an interview.

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.

NSW Fragile X Family Support Group

Invites all families from the Fragile X community

to a BBQ lunch on

Sunday 5th April from 11.30 am to 3.00 pm

at Putney Park

Pellisier Road, Putney

Look for the Fragile X banner

Sausages and bread rolls will be provided

Please bring a small plate to share (e.g. salad/slice etc)

Meet with other families and have fun playing

cricket, boule and chatting

RSVP Christine 0414 300 174 or 0409 987 012;

Please call if weather is uncertain

The Australian newspaper recently published an article, Screening for fragile X sidelined, which discusses the issue of testing for Fragile X by screening newborns or testing of women before they become pregnant.

Fragile X is unusual in that not only are males and females affected by it, a significant number of carriers also suffer their own health issues. Males may develop FXTAX, a degenerative disorder, and females suffer from early menopause and problems with conception. Estimates indicate that around one in 260 women are carriers of Fragile X. Add that to the one in 3600 males and between one in 4000 and one in 6000 females affected by a full mutation, the numbers become significant.

Typically newborn screening is carried out to test for life-threatening conditions but recent studies by an expert on young children with disabilities and  president of the US National Fragile X Foundation, Don Bailey PhD, show that parents overwhelming believe newborn screening for Fragile X is a good idea. Don stresses it would have to be voluntary. Don and colleagues have now launched a pilot study offering newborn screening to a sample of parents to see how many agree to screening, whether they are satisfied with the consent process, whether they are glad they participated, and also looking at the impact on families six to 12 months after screening is carried out.

The other option of screening is testing women before they become pregnant.  Although males can be carriers too they only pass on a pre-mutation to their children. Associate professor Sylvia Metcalfe, from the University of Melbourne and Murdoch Children’s Research Institute, says pre-pregnancy testing “offers a woman more reproductive options than testing when she is already pregnant, or testing a newborn”. Sylvia and colleagues are now conducting a series of pilot studies into pre-pregnancy testing, looking at how such a screening program might work, and how acceptable it would be to women, the community and health professionals.

Our Association President, John Kelleher and his family are featured in the article. John says that “early diagnosis would have saved an awful lot of angst in the kids’ lives — and certainly improved the quality of it,” Although there is as yet no cure for Fragile X, therapy, educational modifications and medication can be of great benefit. Early intervention is important. Don Bailey, says that “Despite all the publicity about fragile X in the last five years, there has been no change in average age of diagnosis: 36 months of age is the average age in the US when a child would be identified.” and that “more than a quarter of families had a second child with fragile X before the first child got diagnosed, because they don’t know about carrier status.”

If you want to read more about this issue

On Pediatrics online – Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues – Donald B. Bailey, Jr, PhDa, Debra Skinner, PhDb, Arlene M. Davis, JDc, Ian Whitmarsh, PhDb and Cynthia Powell, MDd, PEDIATRICS Vol. 121 No. 3 March 2008, pp. e693-e704 (doi:10.1542/peds.2007-0820)

Please let us have your feedback on this subject. Would you opt for either pre-pregnancy testing or newborn screening for Fragile X if you had the choice?

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.

Dendritic spines in the brains of those affected with Fragile X do not mature as they should. These spines are situated on the brain’s neurons at points, called synapses, where the neurons communicate with each other.

The research, conducted on mice, showed that high levels of enzymes, called MMP’, (matrix metalloproteinases), prevent dendritic spines from maturing correctly and that Minocycline reduces the amount of MMP’s. This reduction led to improvements in the cognitive functions of the mice and reduced their anxiety; two of the major problem areas in Fragile X.

A FRAXA funded clinical trial, which will test the use of Minocycline in patients with Fragile X, has been approved for commencement in early 2009 and will be carried out in Toronto, Canada. Minocycline is also currently under study in the treatment of rheumatoid arthritis, multiple sclerosis (MS), Parkinson’s disease, and other neurodegenerative conditions.

The research study, which was also funded by FRAXA, was carried out at the University of California, Riverside’s Division of Biomedical Sciences by a team led by Iryna Ethell and Douglas Ethell, Dr. Iryna Ethell has been awarded the FRAXA Breakthrough Award for 2008. Dr. Michael Tranfaglia, FRAXA’s chief scientific officer, said that ‘This group has done something unique and incredibly valuable ….This is easily the most important scientific breakthrough in the Fragile X field in many years.” The team are going to continue their research into reducing MMP levels.

FRAXA (The Fragile X Research Foundation) was founded in 1994 by three parents of children with Fragile X, Katie Clapp, her husband, Michael Tranfaglia MD,, and Kathy May. The foundation has raised and funded over $15m of useful research into the causes, treatment and cure of Fragile X. Amazingly it employs only one full time and 3 part time staff members but is helped by the efforts of 100′s of volunteers. You can listen to Katie talking about the birth of the FRAXA foundation on an NPR radio interview.

The study results to be published in Journal of Medical Genetics can also be found on their online site – Minocycline Promotes Dendritic Spine Maturation and Improves Behavioral Performance in the Fragile X Mouse Model – but a fee is charged for reading the full text.

For more information please read:

• FRAXA’s news release, Researchers Propose Minocycline as a Promising Drug for Patients with Fragile X
• CR Researchers Propose Minocycline as a Promising Drug for Patients with Fragile X Syndrome on the UC Riverside website

Summary of Results

Full Mutation Males and Females

• Over 80% had been diagnosed or treated for attention problems.
• Most affected boys and many affected girls suffered from anxiety and hyperactivity.
• Eighty-five percent of males and 44 percent of females experienced two or more additional conditions.
• Individuals who had problems with attention, anxiety and hyperactivity were also more likely to have additional conditions such as autism, self injury and seizures, suggesting a clustering of conditions.

Carriers

Carriers were also found to have an increased likely hood of co-occurring conditions.

• Premutation (carrier) males were more likely than non FX affected males to have been diagnosed or treated for developmental delay, attention problems, aggression, seizures, autism, and anxiety.
• Premutation (carrier) females were more likely to have been diagnosed or treated for attention problems, anxiety, depression, and developmental delay.

Don Bailey, Ph.D., a Distinguished Fellow at RTI and director of research project says “Obviously carriers who are parents experience many challenges in raising a child with fragile X. This study suggests the possibility that carriers of fragile X may also have a higher biological susceptibility to things like anxiety or attention problems.”

The study was funded by a grant from the Centers for Disease Control & Prevention.

More information -
Study Finds People with Fragile X, Carriers Likely to Have Additional Conditions – RTI International – News Release – 9.17.2008

The study, by Bailey DB Jr, Raspa M, Olmsted M, Holiday DB. 2008, is entitled. “Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey”. Am J Med Genet Part A 146A:2060-2069, published in the Aug. 15 issue of American Journal of Medical Genetics free abstract available online or full report for a fee

Don Bailey, PhD, Distinguished Fellow in early childhood development at RTI received the 2004 Rosen Award for Outstanding Research in Fragile X Syndrome from the National Fragile X Foundation, and the 2006 Career Research Scientist Award from the Academy on Mental Retardation. He currently serves as President of the National Fragile X Foundation.

“Good onya” (translation: Well Done) Don – we appreciate your work.