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Fragile X Syndrome (FXS) is a health condition that affects children from birth and impacts a range of systems within the body. FXS is a genetic condition inherited from the parents through genes that have been passed down. This condition impacts about 90,000 Australians including approximately 1 in 4000 males and 1 in 8000 females. This condition can impact physical, intellectual, and behavioural systems and can affect family members with the condition in different ways.
What is Fragile X Syndrome?
Fragile X syndrome is caused by a change in genetic information on the X chromosome. This change is an expansion of a gene within the chromosome. This gene is responsible for making a protein that helps the brain develop. This protein is present in many tissues within the body including; the brain, testes, and ovaries. People with FXS do not make this protein, leading to miscommunication in nerve cells and cell-to-cell communication.
Symptoms of Fragile X Syndrome
Symptoms of FXS can vary greatly between individuals and characteristics of one individual may differ from another individual.
- Global development delays to speech, language and communication.
- Intellectual disabilities
- Learning difficulties
- Anxiety
- Self soothing behaviours including hand flapping, repeating words and sentences
- Difficulty with social interaction
- Attention deficit hyperactivity disorder (ADHD)
- Poor eye contact
- Difficulty processing sensory information
- Neurological impact on reproductive organs
Treatment and Support
There is no cure for FXS, however management strategies and treatment intervention can be provided to those living with FXS. The earlier these strategies and treatments are implemented the more beneficial the outcomes will be for the individual.
Treatments and supports may include:
- Developmental paediatrician and specialised GP
- Psychologist
- Occupational Therapist
- Speech and language therapist
- Physiotherapist
- Special educator
- Medical specialists
Diagnosing Fragile X Syndrome
Fragile X is diagnosed through DNA study, normally through a blood test. This test is sent to a pathology centre to be analysed and a report with numerical levels of gene proteins is reported back to your GP. Biological males will have 1 copy of this number whereas 2 numbers will be reported for biological females as they have 2 copies of the X chromosomes. If this number is under 200, referral to a genetic counsellor may be required to discuss the result and support the family through the journey.
