MEDIA RELEASE                                                   20 October 2009

Congratulations! It’s Fragile X!

Leading international experts are converging on Lower Hutt in early November for a conference on Fragile X Syndrome, a genetic disorder that causes developmental delay, intellectual impairment and numerous challenging behaviours, including autism.

The experts’ message is upbeat and positive. While a cure has yet to be discovered, there is now a wealth of knowledge on the detection and treatment of Fragile X and associated disorders. 

In contrast to other less studied mental health problems, the Fragile X diagnosis provides families with a well-researched suite of specific medical treatments, behavioural interventions and teaching strategies that help affected individuals achieve their full potential.

The conference will be a celebration that will span extraordinary new developments in genetic testing and screening, huge advances in medical treatments and the global and local initiatives being used to provide specialised support and education for Fragile X children. The conference will be attended by families from throughout New Zealand as well as specialists in children’s health, mental health and special education.

Keynote speaker Prof. Randi Hagerman is spearheading an initiative to establish an international network of Fragile X clinics. This is very important for countries like New Zealand, that currently lack any Fragile X specialist services, as it offers a mechanism to train local therapists in the leading international centres for Fragile X treatment and research. This initiative is timely because the Ministry of Health is currently looking at ways to streamline clinical services, so that a single specialist clinic will be able to take referrals from across the country irrespective of District Health Board boundaries.

Fragile X affects one in 2500 individuals and is the leading known cause of autism. Around one in 250 women, and slightly fewer men, carry the affected gene and are at risk of passing the syndrome onto their children. This translates to 1700 affected individuals in New Zealand and 17000 carriers.

Carriers are at risk of developing two related disorders:  Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) or Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). FXTAS causes a Parkinsons-like tremor and gait problems, mainly in older men. FXPOI affects women of childbearing age who may experience early infertility and have increased risk of osteoporosis and heart disease.

Fragile X can be diagnosed by a simple blood test. All children with autistic behaviours, developmental delay or learning problems of unknown cause should be tested for Fragile X. Fragile X takes its name from the effect the genetic mutation has on the X chromosome, where it resides.  The mutation creates an elongated string of repeated molecules, giving the impression that the end of the chromosome is fragile and may fall off.

The third national Fragile X conference will be held in the Little Theatre, Lower Hutt, on 2-3 November.  For more information on the conference or on Fragile X and related disorders contact the Fragile X Trust (toll-free 0508 938 0552, email fxwell@paradise.net.nz, web www.fragilex.org.nz)

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