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. This means they might have challenges with learning, behaviour and development.
Children with fragile X syndrome can also show signs of autism. Some of these children 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. This type of gene is called a fragile X premutation.
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 develop fragile X-associated primary ovarian insufficiency (FXPOI). This can lead to infertility and early menopause in women with this type of gene.
Signs and symptoms of fragile X syndrome in children
The signs and symptoms of fragile X syndrome can vary. Some children are very obviously affected, whereas others have less noticeable symptoms.
Physical characteristics
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 leading to 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.
Cognitive signs
Developmental delay and intellectual disability are the most common features of fragile X syndrome. Many children with fragile X syndrome also have difficulties with speech, language, fine motor skills and gross motor skills.
Behavioural signs
If your child has fragile X syndrome, you might notice that your child behaves differently from other children. For example, your child might have more tantrums because they haven’t learned other ways to express and manage their feelings.
Other behavioural signs of fragile X syndrome include:
- shyness and anxiety, particularly in new situations
- attention deficit hyperactivity disorder (ADHD)
- signs of autism
- repetitive speech
- sensitivity to touch or dislike of loud noises
- difficulty making eye contact
- aggression
- sleep disturbance.
Associated medical concerns
Children with fragile X syndrome can have other medical concerns like:
Personal and learning strengths in children with fragile X syndrome
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 very good at things like:
- learning visually using pictures or computers
- remembering things like songs, movies or sports events
- doing practical, relevant tasks
- doing essential daily tasks
- being compassionate, helpful and friendly.
Testing for fragile X syndrome before or during pregnancy
If you’re pregnant or planning a pregnancy, you might want to have tests to find out how likely you are to have a child with fragile X syndrome.
These are called screening tests, and they’re free for all people planning a pregnancy or in the first trimester of a pregnancy. Your GP can organise these screening tests for you.
If you’re pregnant and find out that you’re a carrier of fragile X syndrome, you can have diagnostic testing to find out whether your baby has fragile X syndrome.
Diagnostic tests include chorionic villus sampling (CVS) and amniocentesis. Both tests are very accurate, but they also have some risks. And even if the tests say your child has fragile X syndrome, they can’t tell you how the condition will affect your child. You can talk to your doctor or midwife to get more information about these tests.
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.
Diagnosing fragile X syndrome after birth
Fragile X syndrome can be diagnosed at any age, from before birth to adulthood. But the earlier it’s spotted after birth the better, because early intervention can help children reach their full potential.
All children who have 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 characteristics 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 or territory of Australia you live in.
In some circumstances, Medicare might cover the cost of tests for fragile X syndrome. For more information, talk with your GP or paediatrician.
DNA tests are important for diagnosing genetic conditions like fragile X syndrome. Our article on genetic testing has more information about DNA tests, including what you can expect and what 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 from 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
It’s important to look after yourself physically, mentally and emotionally. 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, parent support, and research and education webinars. 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, they might have a range of feelings about having a sibling with fragile X syndrome. They need to feel that they’re just as important to you as your child with fragile X syndrome – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.