Fragile X Syndrome
- Fragile X syndrome is a mutation in the x chromosome of the body. This mutation attacks the gene FMR1 which is located on the X chromosome. This protein is important because it is used to develop neuronal connections with the brain. However the mutation causes a stop in the making of this protein leaving the brain without the neuronal connections, which can lead to serious problems.
- This mutation is inherited and not directly related to environmental factors, but can be passed on from a parent to the child even if the parent does not have Fragile X.
- People with Fragile X syndrome may have connective tissue problems where they have flat feet, double-jointed fingers, high arched palate, hyper-flexible joints, and ear infections. Large ears, soft skin, long faces and large testicles in post-pubertal males may be some signs that you have Fragile X Syndrome.
What people are at risk?!
- Fragile X syndrome can be passed on to children from the parents through thier genes. A male who has Fragile X Syndrome will pass the disorder on to all his daughters. Whereas if a female has this disorder the have a 50% chance of passing it down to their sons and daughters. Fragile X Syndrome is the dominant trait.
- The demographic, on a global scale is that fragile x affects are 1 person in every 4000 males, and 1 in every 8000 females.
- This being said males are more likely to be affected by fragile x than females are.
- This is a sex linked disorder because it happens on the X chromosome in the body, which is also why males are more affected than females; because males only have 1 x chromosome and females have 2.
How do doctors tests for FXS?
- Children affected do not always show symptoms at birth, normally a girl will be diagnosed with FXS around 42 months and boy is typically diagnosed around 35 to 37 months old.
- One way that FXS can be diagnosed is with a blood test, this blood will then be sent to a lab to be tested.
Signs and Symptoms
Some physical symptoms are:
- soft skin
- large body
- long face
- flat feet
- large forehead
- flexible joints.
The behavioral symptoms are:
- mental retardation
- slow development of crawling and walking
- speech problems
- clapping or biting hands
- avoiding eye contact.
- Fragile X doesn't have a specific medication for it, however medications that treat hyperactivity are often helpful.
- Special education and therapy services are often used to help children who have fragile x in order for them to be as fully functioning as possible.
- Research is currently being done to test the theory that replacing the bad gene could fix fragile x, but no definitive therapy has been created.
- Also a person with FXS can get genetic counseling to be more aware of the likelihood of them passing it down to their children if it runs in their family.