What is Fragile X?

What is Fragile X Syndrome?

FXS is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics. Each week in Australia one child is born who is fully affected by FXS and 20 children are born who are carriers of the Fragile X gene. Fragile X is a life-long condition but early intervention by health and educational professionals can help people living with FXS reach their full potential.

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What Causes Fragile X

Fragile X results from a change or mutation in the Fragile X Mental Retardation 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein called Fragile X Mental Retardation Protein, or FMRP. This protein is important for creating and maintaining connections between cells in the brain and nervous system. The mutation causes the body to make only a little bit or none of the protein, which often causes the symptoms of Fragile X.

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Symptoms of Fragile X

Fragile X impairs learning, intelligence and behavior. Sufferers are anxious and easily overwhelmed, even during routine activities such as taking a walk, visiting a store, attending school or living at home.
Common strengths are a good visual memory, sense of humor, and gift for mimicry.


Fragile X Association Australia
The Fragile X Association of Australia is a non-profit organisation that provides support to families living with Fragile X. This includes specialised clinics, mobile workshops, counselling and casework, fundraising and working to increase public awareness of Fragile X.
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National Fragile X Foundation in USA
The Fragile X Alliance Inc. offers clinical services and educational resources. The Alliance is also involved in research projects aimed at improving care and understanding of Fragile X Syndrome.
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Fraxa Research Foundation
Fragile X Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Fragile X Syndrome, including details on symptoms, treatment, heritability, diagnosis.
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