Fragile X Syndrome

Fragile X syndrome is the most common known cause of inherited intellectual disability, affecting around 1 in 4000 males and about 1 in 6,000 females.

It is one of a family of conditions caused by a mutation (change) to the FMR1 gene on the X chromosome. The FMR1 gene is responsible for producing a protein important for brain development. When the gene lengthens through the mutation, it switches off production of that protein involved in brain development and other functions.

Fragile X syndrome can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional, behavioural and medical problems. The effects of Fragile X syndrome on an individual vary and can range from mild to severe. Men and boys commonly appear more severely affected by Fragile X syndrome, but women and girls may also be severely affected.

Fragile X syndrome is also the most common known single-gene cause of autism spectrum disorder. Up to 50% of males with Fragile X syndrome will meet the criteria for autism spectrum disorder. Approximately 2% of people who meet the criteria for a diagnosis of autism spectrum disorder have been found to have Fragile X syndrome.

It is estimated that in Australia, each week one child is born with Fragile X syndrome, and 20 children are born who are carriers of the FMR1 gene premutation.

While there is as yet no cure for Fragile X syndrome, there are a range of treatment interventions and management strategies that are of great benefit.

chromosome image

Photo credit: Genome Research Limited


To learn more:

Understanding Fragile X

Video produced by Fragile X Association of Australia

About Fragile X syndrome

Video produced by Fragile X Society UK (7 minutes)

Fragile X syndrome 

Article from Medical Observer journal

Share:
Menu
Menu
Menu
Menu

We're fundraising for our Family Support service!

The spectacular Bridge to Beach paddle race raises funds to help us support, connect and advocate for families around Australia! You can make a difference for the Fragile X community by making a donation to our Bridge to Beach campaign today! Donations of $2.00 and over are tax deductible.

Fragile X Logo