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What is Fragile X?

Fragile X is a genetic disorder caused by a mutation (change in the DNA structure) in the X chromosome. It is a family of three conditions:

  1. Fragile X Syndrome (FXS) is the most common cause of inherited mental impairment and causes developmental and intellectual disabilities in those affected. It is the most common known cause of autism or “autistic-like” behaviors. Other common symptoms include ADHD, anxiety and epilepsy. Males are usually more affected than females. Affected females tend to suffer from shyness and social anxiety and learning difficulties..
  2. Fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
  3. Fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.

About 1 in 151 females and 1 in 468 males carry the fragile X premutation. Approximately 1 in 35 females and 1 of every 42 males fall into the gray zone as carriers.

Why Awareness Is So Important

  • So that carriers and those affected receive the most appropriate treatment and therapy.
  • Children are mis-diagnosed with Autism, Aspergers or other conditions rather than Fragile X.
  • Men are mis-diagnosed with Parkinson’s Disease rather than as a Fragile X carrier suffering from FXTAS.
  • Women struggle to conceive, or cannot conceive at all. They may be carriers of Fragile X suffering from FXPOI but have not been tested or given the correct genetic counselling and treatment.
Fragile X Awareness Day NXFX

“Fragile What?” is often the question we get when we talk about our child’s disability.

 

It is hard when we have to constantly explain what it is, especially to the medical professionals, therapists and teachers who we are trusting to treat our child appropriately.

How common is Fragile X?

  • Approximately 1 in 250 women and 1 in 800 men are carriers of Fragile X and they may suffer from FXTAS or FXPOI.
  • Fragile X is the leading inherited cause of intellectual disability worldwide and second only to Down Syndrome as a cause of intellectual disability.
  • Fragile X Syndrome is the most common known cause of Autism and autistic type behaviours.
  • It is estimated that about 1 in 4,000 males and between 1 in 6,000-8,000 females are affected by the disorder (rather than just being carriers).

How to spread the word?

You can help by telling people about Fragile X

  • Inform as many people as you can about Fragile X.
  • Use the Share buttons at the bottom of this article and submit and bookmark this page to services that you belong to.
  • Download a Fragile X Booklet: show it to friends and family, print out a copy and take a copy to your local doctor.
  • Visit the main Fragile X website for your country and download and share their literature – see our links pages