What is Fragile X Syndrome?
Fragile x syndrome is a genetic condition which causes various degrees of intellectual disability, behavioural and learning challenges and distinctive physical features. Fragile X syndrome can affect both genders, however males generally present with a greater severity in symptoms. Statistics indicate that in Australia approximately 4,300 males and some 2,175 females currently may have the full mutation with associated intellectual disability (NCSEM, 2010).
Fragile X Cause
The term “Fragile X” refers to the alteration in the X chromosome – that is the change in DNA structure. Specifically, Fragile X is caused by the expansion or lengthening of the FMR1 gene on the X chromosome. The X chromosome is one of the two gender determining chromosomes. As the gene lengthens, it essentially ‘switches off’ production of a protein that is necessary for brain development and other functions.
Males tend to be more affected by Fragile X because they have only one X chromosome, and therefore have only one FMR1 gene. It this is not working, there is no ‘backup’. Females have two X chromosomes and therefore two FMR1 genes. If one gene has the alteration, the other will likely still work. If it is not working, a female may show some of the symptoms of Fragile X.
The Fragile X association of Australia have produced this basic digital animation of the genetic involved in Fragile X syndrome. Click here to watch the video. A genetic counsellor will be able to provide specific information for individuals.
Fragile X syndrome may lead to
- Developmental delay
- Intellectual disability
- Behavioural problems
- Mimicking behaviours
There are physical characteristics associated with Fragile X syndrome. Not all of characteristics listed below will necessarily be apparent in each individual with Fragile X. These are predominantly seen in males with Fragile X. Girls may show some of these symptoms, but usually to a lesser degree.
- Prominent ears
- Large testes
- Flexible joints (particularly finger joints)
- Flat feet
- A long, narrow face
Fragile X may lead developmental delays of varying severity. There can be cognitive impairment, ranging from a normal IQ with mild learning disabilities to severe intellectual disability (+/- autism).
- Males with Fragile X may present with:
- Delayed motor development
- Delayed speech and language development
- Repetitive and/or unclear speech
- Limited attention span
Features generally associated with autism such as limited eye contact, hand flapping, hand biting, hypersensitivity to sound, lights etc.
Females may also show the above symptoms and/or other distinctive characteristics such as:
- Short attention span,
- Social anxiety
- Learning difficulties
Is there a cure?
While there is currently no cure, the provision of early intervention services can assist people with Fragile X syndrome to reach their full potential. Each treatment plan will be tailored to the specific needs of each child, but more often than not, therapy will include aspects of:
- School based learning support
- Speech and language therapy
- Occupational therapy and/or physiotherapy
- Medication support
An early intervention support team can support a child’s development. As part of our services at ENT Clinic Randwick, we are able to provide early intervention speech pathology services to children with Fragile X syndrome and support to their families. We are approved providers of the Australian government’s Better Start program which provides financial support for children (under the age of 6) if they are deemed eligible (in this instance, a confirmed diagnosis of Fragile X syndrome with full mutation). If you would like further information about how our speech pathology team can support your child, please call 1300 123 368.
This article was written by our speech pathologist Jenna Butterworth who is a Speech Pathology Australia member.
If you have questions about Fragile X syndrome, speech pathology or for results focused speech therapy, contact your local doctor who will arrange for you to see a speech pathologist in Sydney. Contact us today!
Resources for further information:
Hagerman, P. (2008). The Fragile X Prevalence paradox. Journal of medical genetics, 45, 768. Accessed online here.
NCSEM: National Centre for Social and Economic Modelling. (2010). The Prevalence of Fragile X Associated Disorders in Australia. Accessed online on 1.7.2013 here.
U.S Library of Medicine (2011). Fragile X syndrome. Accessed online on 1.7.2013 here.
Wijetunge, L.S., Chattarji, S., Wyllie, D.J. & Kind, P.C. (2013). Fragile X syndrome: from targets to treatments. Neuropharmacology, 63, 83-96.
Winarni, T.I., Schneider, A., Borodyanskara, M. & Hagermann, R.J. (2012). Early intervention combined with targeted treatment promotes cognitive and behavioural improvements in young children with fragile x syndrome. Case reports in Genetics.