About Fragile X syndrome
Fragile X syndrome is a genetic condition. It’s the most common cause of genetically inherited intellectual disability.
Children with Fragile X syndrome can find it hard to understand and process information. These difficulties mean they can have problems with learning, behaviour and development.
Children with Fragile X syndrome can also have autism-like behaviours. Some children have enough of these behaviours to meet the criteria for an autism diagnosis. Fragile X syndrome is the most common, known single-gene cause of autism.
Fragile X syndrome affects more boys than girls. It also affects boys more severely than girls. Fragile X syndrome appears in children of all cultures and ethnic backgrounds.
Fragile X syndrome carriers
People can be carriers of Fragile X syndrome without having the condition themselves. This means they have a type of Fragile X gene that they can pass on to their children.
Carriers of Fragile X syndrome can develop Fragile X-associated tremor/ataxia syndrome (FXTAS) when they’re over 50 years old. This condition is rare. It’s more common in men than women.
Some female carriers suffer from Fragile X-associated primary ovarian insufficiency (FXPOI). This problem can lead to infertility and early menopause in women with the gene.
Signs and symptoms of Fragile X syndrome
The signs and symptoms of Fragile X syndrome can vary. Some children are very obviously affected, whereas others have more subtle symptoms.
Fragile X syndrome can be hard to spot physically. But some children with Fragile X syndrome 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.
Developmental delay and intellectual disability are the most common features of Fragile X syndrome. Many children with Fragile X syndrome also have difficulties with fine motor skills, gross motor skills and language delay.
If your child has Fragile X syndrome, you might notice that your child behaves differently from other children. For example, your child might have tantrums because they haven’t learned other ways to express and manage their feelings.
Other common signs of Fragile X syndrome include:
- shyness and anxiety, particularly in new situations
- attention deficit hyperactivity disorder (ADHD)
- features of autism
- repetitive speech
- sensitivity to touch or dislike of loud noises
- difficulty making eye contact
Associated medical concerns
Children with Fragile X syndrome 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 syndrome often have a strong sense of humour and enjoy having fun, which can help them overcome their social anxieties. And they’re often really good at things like:
- learning visually using pictures or computers
- remembering things like songs, movies or sports events
- undertaking practical, relevant tasks
- doing essential daily tasks
- being compassionate, helpful and friendly.
Diagnosis and testing for Fragile X syndrome
Fragile X syndrome can be diagnosed at any age, from before birth to adulthood. But the earlier it’s spotted the better, because early intervention can help children reach their full potential.
All children who have a developmental delay, intellectual disability, or autism should be tested for Fragile X syndrome.
It’s also a good idea to have your child tested for Fragile X syndrome if:
- your family has a history of Fragile X syndrome, developmental delay or intellectual disability
- your child has the physical features or behaviour typical of Fragile X syndrome (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 test to find out whether your child has Fragile X syndrome. It takes 2-3 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 syndrome. For more information, see your GP or paediatrician.
Testing for Fragile X syndrome before or during pregnancy
If you’re pregnant or planning a pregnancy you might want to have testing done to find out whether you’re at risk of having a child with Fragile X syndrome.
All women can have Fragile X carrier testing, but Medicare funding is available only for women with a family history of Fragile X syndrome. If you’re pregnant and find out you’re a Fragile X carrier, your baby can be tested for Fragile X syndrome by chorionic villus sampling (CVS) or amniocentesis.
Before you go ahead with antenatal testing for Fragile X syndrome, you might want to think about genetic counselling. Genetic counselling will help you understand your options and the effect a diagnosis might have on you and your family. A genetic counsellor can also support you as you make decisions about antenatal testing.
DNA tests are important for diagnosing genetic conditions like Fragile X syndrome. Our article on genetic testing has more information about DNA tests, what you can expect and some of the things you need to know beforehand.
Early intervention for children with Fragile X syndrome
Early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.
Early intervention should also include helping you learn how to spend time with your child in ways that support their development. 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 you can help your child a lot.
The best early intervention for Fragile X syndrome usually involves a multidisciplinary approach to your child’s educational, behavioural and medical needs. This means you and your child will probably work with many health and other professionals. These professionals might include paediatricians, occupational therapists, physiotherapists, psychologists, special education teachers and speech pathologists.
It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.
Financial support for children with Fragile X syndrome
If your child has a confirmed diagnosis of Fragile X syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or educational support.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child, it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child.
If you need support, a good place to start is with your doctors and genetic counsellors.
You can also get support from the Fragile X Association of Australia (FXAA). The FXAA provides support to families affected by Fragile X syndrome. It offers a range of services including counselling, clinical services, parent support, research and education groups. You can call the FXAA on 1300 394 636.
Talking to other parents can also be a great way to get support. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
If you have other children, these siblings of children with disability need to feel that they’re just as important to you – that you care about them and what they’re going through. It’s important to talk with them, spend time with them, and find the right support for them too.