At London Speech Therapy, we often work with children who
have Fragile X Syndrome, and sometimes we meet children who have only recently
been diagnosed. The parents of these children are understandably full of
questions about the syndrome, so we thought it would be useful to write a brief
overview answering a few of these questions for our latest blog post.
We hope it proves useful to the parents, carers and teachers
of those affected by Fragile X, but if after reading you find you have more
questions, please don’t hesitate to get in touch!
What is Fragile X
Fragile X Syndrome is the most frequent cause of inherited
learning disability. It is a genetic condition, which means that it’s caused by
a change, or mutation, in a person’s DNA. The fact that Fragile X is a genetic
condition means that it can be ‘passed on’ from a parent to their child, and it
also means that it can be diagnosed with a blood test.
Fragile X can cause a number of learning, social, emotional
and behavioural difficulties, and can also cause problems with language and
attention. The difficulties caused by Fragile X can range from mild to severe,
but many children affected will need some kind of special education.
Fragile X is also the leading known cause of Autism and
Autism Spectrum Disorder (ASD), but it’s important to note that not everyone
with Fragile X has Autism, and not everyone with Autism will have Fragile
The Genetics Behind
The genetic mutation that causes Fragile X occurs on the
FMR1 gene, which is found on the X chromosome. The Fragile X mutation causes
the very tip of the chromosome to look as though it’s breaking off when viewed
through a microscope, and it’s this ‘fragile’ appearance that gives the
syndrome its name. This change in the gene’s makeup interferes with its ability
to produce a protein that is important for normal brain development.
You may have heard medical professionals talk about
‘premutation’ and ‘full mutation’ when they’re discussing Fragile X. This is
because the extent of the change to the FMR1 gene can either be small (known as
premutation) or large (full mutation). A small change to the gene usually
doesn’t stop it from working correctly, but can make it ‘unstable’, which means
it’s likely to get bigger when passed from a woman to her children. People with
a premutation are often referred to as ‘carriers’ of Fragile X.
For a more detailed look at how Fragile X is passed on,
visit the Fragile X Society’s website,
where you can find a range of easy-to-read booklets.
Speech, Language and
Fragile X Syndrome
Speech and Language delay is almost universal in children
with Fragile X, and this can often prove to be the first clue to diagnosis.
There are many ‘tell-tale’ speech patterns associated with Fragile X, and
effective speech and language therapy can help improve these, making
communication easier and more effective.
To find out more about how we at London Speech Therapy can
help, get in touch using the form below, or give us a call on 020 3475 2189.