Fragile X – What is it?
Fragile X affects around 1 in 4000 males and 1 in 8000 females. Along with this, around 1 in 250 females and 1 in 600 males carry the pre-mutation. But, what is it? Fragile X is what happens when the individual’s body isn’t able to make enough protein, that it needs to grow and develop the brain.
Read on to find out more.
Fragile X can cause learning difficulties as well as problems with;
- social,
- language,
- attention,
- emotion and
- behaviour skills.
The Fragile X chromosome comes in 2 ways – pre-mutation and full mutation. Pre-mutation can be unstable, although this may not affect the individual to have learning disabilities. It can grow, if passed from a mother to her baby. A man or woman with a permutation Fragile X chromosome may be called a carrier.
Pre-mutation may cause a small change in an individual but a full mutation will cause a large change and this can also stop the gene from working.
Like Autism, Fragile X is more common in boys than girls. The X chromosome is one of a pair of chromosomes. Girls have 2 X chromosomes, whereas boys have one X chromosome. This means that if a girl has a 1 full mutation X chromosome and one good chromosome, this can help in some ways for the fragile one.
How does it get diagnosed?
Simply, through a blood test.
I’m a carrier, will I know if my baby will have it before birth?
Yes. Your doctor will be able to talk to you about tests that you can have. These will help you to understand what the chances are of your baby having Fragile X.
And the main thing, how can it affect an individual?
Actually, it can affect them in a number of ways. This can be by getting easily distracted, restless and having a short attention span. It can also make the individual more impulsive or over active, constantly wanting to be on the move. Individuals with Fragile X can also have sensory difficulties.
They can also have a variety of traits similar to autistic traits. This can be social such as struggling with eye contact, finding it hard to relate with others or form friendships/relationships and anxiety.
Many individuals who are diagnosed with Fragile X also get diagnosed with autism, with many also developing epilepsy.
Anxiety is also a way that Fragile X can affect an individual. This can also cause unstable moods for the individual. Many of us may know someone who has been diagnosed with anxiety and we know how much it can affect an individual person’s life, in a whole range of ways.
Speech difficulties are also another part of Fragile X. Many individuals have speech delay with expressive language more than receptive language.
This post was just a short overview of what Fragile X is. There are some great resources and websites out there dedicated to solely Fragile X which are full of great information for you to understand more about the condition.
Some information has been researched from Fragilex.org.uk which is a great site, full of information about Fragile X.