Fragile X Syndrome (FXS) is a genetic condition that causes intellectual disability, behavioural and learning challenges and various physical characteristics. It is also the most common single gene cause of Autism Spectrum Disorder worldwide. It appears in people of all ethnic, racial and socio-economic backgrounds and can affect both genders (however, males are generally affected with greater severity). It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum Disorder (ASD) also have Fragile X Syndrome.
Fragile X Syndrome can affect people in various ways and a person may be fully affected, but not show all of the following signs. Females are usually less affected than males.
Behavioural and Emotional Features:
Developmental Features:
Physical Features: (may be subtle or not present)
Carriers of the Fragile X gene may show the following features:
Diagnosis alone is NOT the solution. It simply opens the door to getting the help that is needed by arming all involved with the relevant information.
The ‘help’ still needs to be provided. The help that is provided (at least from a therapy perspective) will reflect:
More specific implications of not seeking treatment will be influenced by the common difficulties that are most influencing your individual child.
For more information see the relevant fact sheets under areas of concern or refer to the other relevant resources section below.
Diagnoses are used to label a specific set of symptoms that are being experienced by a child.
This label then helps to narrow down and specifically tailor what:
A diagnosis helps the child and their carers (parents, teachers, health professionals, carers) to:
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