What is Fragile X syndrome?
Fragile X syndrome is a genetic condition that causes intellectual disability and is the most common known cause of inherited autism.
Children with Fragile X can find it hard to understand or process information. These difficulties mean they can have problems with learning, behaviour and development.
Fragile X is the most common cause of genetically inherited intellectual disability. It affects more boys than girls and also affects boys more severely than girls. Fragile X appears in children of all cultures and ethnic backgrounds.
Fragile X carriers
People can be carriers of Fragile X syndrome without having the condition themselves. This means they have the gene and can pass it on to their children.
Male and female carriers of Fragile X might suffer from FXTAS (Fragile X-associated tremor/ataxia syndrome). This condition is more common in men and affects balance, as well as memory in older men with the gene.
Female carriers might suffer from FXPOI (Fragile X-associated primary ovarian insufficiency). This problem can lead to infertility and early menopause in women with the gene.
Signs and symptoms of Fragile X
The signs and symptoms of Fragile X can vary a lot from child to child. Some children are very obviously affected, whereas others have more subtle symptoms.
Fragile X can be hard to spot physically. But some children with Fragile X might have the following physical features:
- long and narrow face
- prominent ears
- poor muscle tone – which can cause crossed eyes or a squint, extra curve in the spine or slack face muscles (particularly in young children)
- loose joints (‘double joints’) that move a lot more than usual
- flat feet.
Intellectual disability and developmental delay are the most common features of Fragile X. Many children with Fragile X also have difficulties with fine motor skills, gross motor skills and delayed speech development.
If your child has Fragile X, you might notice some that your child behaves differently from other children or has delayed development.
Other common signs of Fragile X include:
Associated medical concerns
Children with Fragile X can have other medical concerns like:
If your child has these problems, your paediatrician can diagnose them and help you find ways to manage them in everyday life.
Ability not disability
Children with Fragile X often have a strong sense of humour and enjoy having fun, which can help overcome their social anxieties. And they’re often really good at things like:
- learning visually, using pictures or computers
- recognising words, numbers and patterns
- remembering things, like songs, movies or sports events
- undertaking practical, relevant tasks
- doing essential daily tasks
- being compassionate, helpful and friendly.
Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with your child can help her a lot.
Diagnosis and testing for Fragile X syndrome
Fragile X can be diagnosed at any age, from before birth to adulthood. But the earlier it’s spotted the better, because early treatment can help children reach their full potential.
All children who have an intellectual disability, developmental delay or autism should be tested for Fragile X.
It’s also a good idea to have your child tested for Fragile X if:
- your family has a history of Fragile X syndrome, intellectual disability or developmental delay
- your child has the physical features or behaviour of Fragile X (regardless of family history)
- your child has significant learning problems, trouble with understanding, ADHD or anxiety.
Your GP or paediatrician (or any other medical doctor) can order a DNA blood test to find out whether your child has Fragile X. It takes 4-8 weeks to get test results back, depending on which state of Australia you live in.
In some circumstances, Medicare might cover the cost of tests for Fragile X. For more information, see your GP or paediatrician.