Fragile X Syndrome explained:
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability, affecting about 1 in
3600 males and 1 in 4000-6000 females (Crawford, 2001. Fact sheet: FMR1 and the Fragile X Syndrome. http://www.cdc.gov/genomics/hugenet/factsheets/FS_FragileX.htm
)
For FXS males, the spectrum of impairment ranges from subtle learning disabilities to severe mental retardation and autism. Males may also have a variety of physical and behavioural characteristics, the latter including attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviours, poor eye contact, and aversion to touch and noise.
Fewer females are affected by FXS, and the degree of impact is usually less. This is because females have two X chromosomes and one normally functioning gene may partially compensate for the non-functioning gene. Only about a third of FXS females have a significant intellectual disability.
A person with FXS has a mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome.
That mutation causes the cell to methylate a regulatory region of the FMR1 gene, which effectively “turns off” the FMR1 gene. With the gene turned off, the person can’t make fragile X mental retardation protein
(FMRP) and the lack of this protein triggers the syndrome.
Fragile X Syndrome is one of a small group of trinucleotide repeat disorders that includes Huntington disease. A common feature of these diseases is that their impact increases over generations. A female with the premutation will often pass on a larger version of the mutation to her children. As the size of the premutation increases, there is an increased possibility that a child will receive the full mutation. Although the premutation often has no observable impact, some females will experience early menopause or some of the symptoms noted above. About 1 in 250 females and 1 in 800 males carry the premutation.
Early diagnosis of FXS allows implementation of effective treatment and management strategies.
Testing for Fragile X:
Although there is currently no cure for fragile X syndrome, a recognised diagnosis can lead to appropriate management and intervention that helps affected individuals to reach their full potential. Fragile X is diagnosed from a simple blood test. This test is recommended for:
• anyone with mental impairment, developmental delay, learning disabilities of unknown cause
• anyone with autistic behaviours
• anyone with a relative with fragile X
• anyone tested with the earlier and unreliable cytogenetic test
• women considering having children and with a family history of fragile X or premature menopause
Links to online information about Fragile X:
FRAXA Research Foundation http://www.fraxa.org
is a US-based parent-initiated research foundation that supports scientific research aimed at finding treatments and a cure for Fragile X Syndrome. The website contains information on symptoms, cause, testing, treatment and research.
The National Fragile X Foundation http://www.nfxf.org
is a US-based foundation that aims to unite the
Fragile X community through educational and emotional support, promote public and professional awareness, and advance research toward improved treatments and a cure for Fragile X Syndrome.
The Carolina Fragile X Project http://www.fpg.unc.edu/~fx/index.htm
provides information on a series of studies that examine the impact of Fragile X Syndrome on individuals, families & the agencies that serve them.
Research information:
The following information is from the FRAXA website. FRAXA’s primary goal is to support research on effective treatments and a cure for Fragile X Syndrome (FXS). The basic problem in FXS is that brain cells have a defect in a gene (FMR1) such that this gene cannot produce its normal product, the Fragile X protein

(FMRP). Without FMRP brain cells cannot communicate cleanly with each other. This underlies the learning and behavioural problems in FXS. FRAXA supports the following research approaches:
1. Fix the gene so that it can make its normal protein.
2. Make and deliver the protein by some other means.
3. Substitute for the function of the protein.
4. Treat the symptoms of FXS.
Currently, treating symptoms is the only option available, and the available interventions - drugs, special education, psychological counselling - are of limited help. FRAXA funds scientists who are pursuing each of these four approaches. Much of the work is collaborative, as no single research team has the full range of technical skills to address all of the issues involved in developing treatments.
FRAXA provides between $500,000 - $1 million in new grants and fellowships every six months. FRAXA has also embarked on a $7 million dollar joint funding program with the US National Institute of Health.
Support group aims:
The aims of the Fragile X Trust (NZ) are: to support, educate and advocate for individuals and families affected by Fragile X Syndrome to help children and adults with Fragile X Syndrome reach their full potential.
Support group activities:
The Fragile X Trust (NZ) is a parent-led trust that coordinates a national support network, runs local workshops and national conferences, maintains a library of useful books and audio-visual material, and keeps in regular contact with a global network of families, researchers and clinicians who are working to understand, treat, manage and eventually find a cure for fragile X.
The Trust has organised two national conferences - the first in Hamilton in 2001 and the second in
Wellington in 2003. These conferences were attended by parents of children or adults with FXS and health and education professionals working with people affected by FXS. Keynote speakers at these conferences were international experts in FXS: Dr Randi Hagerman (USA), Louise Gane (USA), Dr Jonathan and
Rochelle Cohen (AUS) in 2001 and Dr Marcia Braden (USA) and Dr Jonathan Cohen again in 2003.
Newly diagnosed families are encouraged to contact the trust through its national office or regional coordinators.
Fragile X Trust (NZ) national office:
Chris Heenan (chairman)
Address: 578a Milson Line, RD8, Palmerston North
Phone: 06-353-8284
Email: fragilextrustnz@hotmail.com
or chris.jodiheenan@actrix.co.nz
Regional support group co-ordinators:
Auckland - Northland
Vicki Williams
Address: 726 West Coast Rd, Waiatarua, Auckland
Phone: 09-814-8828, Email: k-vwilli@ihug.co.nz
Waikato - Bay of Plenty
Jenny Adair
Address: 14 Clothier Rd, RD5, Hamilton
Phone: 07-825-9958, Email: jensteva@ihug.co.nz
Wellington - southern North Island
Chris Hollis
Address: 158 Oxford Tce, Epuni, Lower Hutt
Phone: 04-938-0552, Email: c.hollis@paradise.net.nz
Christchurch - northern South Island
Lois Smith

Address: 57 Tilford St, Linwood, Christchurch
Phone: 03-960-7531, Email: loiscarole@paradise.net.nz
Dunedin
– southern South Island
Kim Caffell
Address: 35 Scotland Tce, Green Island, Dunedin
Phone: 03-488-4837, Email: kim.c@xtra.co.nz
Please Note: This website is provided as an information service only. It is not intended to provide medical advice. Every effort has been made to ensure that the information on this website is correct, but NZORD does not accept any responsibility for action or omission based on inadvertently incorrect information posted on this website by NZORD or by support groups. It is strongly recommended that persons wishing to use information obtained on this website, first consult their medical practitioner.