ABOUT FRAGILE X SYNDROME

About Fragile X

Fragile X children young

Fragile X Syndrome is the most common cause of inherited intellectual disability and the most common known genetic cause of autism. It is a condition which can have impact on individuals and families in various ways and degrees of severity.

Fragile X is found in all races and at all socio-economic levels. Latest statistics indicate 1 in 3600 males and 1 in 4000- 6000 females are affected and that approximately 1 in 260 females are carriers.

Every week in Australia one child is born who is fully affected and twelve children are born who are carriers.*
Symptoms

Characteristics include global developmental delay and speech and communication problems.

Behavioural challenges include poor concentration, autistic like behaviours such as an unusual fixed interest in some things and dislike in change in routine.

People with Fragile X have a stronger likelyhood of suffering from certain medical issues such as anxiety, hyperactivity (ADHD), autism.

Some characteristics of physical appearance may be affected.

Male carriers of Fragile X may suffer from:FXTAS (Fragile X-associated tremor/ataxia syndrome) which is a condition affecting balance, tremor and memory in some older male gene carriers.

Female carriers may suffer from FXPOI (Fragile X-associated primary ovarian insufficiency) which is a problem which can lead to infertility and early menopause in some female gene carriers.
Genetics

The name of the syndrome comes from its location on the X chromosome. Under particular laboratory conditions, the bottom of the long arm of this chromosome can appear broken or fragile. It has been estimated that, worldwide, 50% of people affected by fragile X have not been correctly diagnosed. More details about the genetics of Fragile X can be found on the Inheritance page.

Diagnosis of Fragile X is achieved through DNA tests and genetic counselling is available for information and support.
Treatment

There is currently no cure for Fragile X. However, special therapies, methods of teaching and medication all provide real benefit to people with the syndrome and help them perform the best they can. Worldwide research is regularly providing increased knowledge.

There are several clinics in Australia which deal specifically with Fragile X Syndrome

For more detailed information on Fragile X please refer to the links to the left of this page. Our news pages will keep you up to date on anything new that is happening regarding Fragile X.