Free Essay: What is Fragile X Syndrome?

Fragile X syndrome is a condition that is genetically transferred and results in developmental disabilities such as cognitive impairment and learning disabilities. Fragile X syndrome occurs when there are mutations or changes in the X chromosome. This happens when the X chromosome fails to produce enough protein that aids in work cells communication and hence leading to overproduction of CCG. It is estimated that 1 in 8000 females are affected by the Fragile X Syndrome in comparison to 1 in 4000 males. Additionally, this genetic problem is likely to have more adverse effects on the males because they have only one X chromosome as compared to the females who by nature have two X Chromosomes.

What are the Symptoms of Fragile X Syndrome?

There are several signs that can tell when a patient has Fragile X Syndrome. This varies for males and females. The common symptoms of this condition in males include:

• Significant intellectual disabilities. Most males who suffer from this condition possess high levels of intellectual disability. This may range between moderate to severe intellectual disability and is sometimes referred to as mental retardation.
• Moderate to severe learning disabilities is common in males
• Long face and large ears
• Large testicles or a condition called macroorchidism during puberty and post puberty periods is experienced
• Double jointed fingers
• Hyper flexible joints
• High arched palate
• Flat feet
• Behavioral conditions such as autism, ADD, social anxiety, poor eye contact, sensory disorders and risk of aggression.

For females the symptoms are not as severe as those experienced by males. They range from:

• Moderate levels of intellectual disability. Only a third of the females affected by this condition experience extreme intellectual disabilities.
• Mild learning disorders
• General anxiety and behavioral disorders
• Milder physical representation of the Fragile X Syndrome features experienced in the males

The reason why most males experience severe symptoms of the Fragile X Syndrome is because males only have one X chromosome as compared to females who have two X chromosomes. In fact, in some rare cases, there are females who do not exhibit any of the above symptoms until a test is carried out or their family members found to have the Fragile X Syndrome.

What is the Treatment for Fragile X Syndrome?

Unfortunately, Fragile X Syndrome is not a curable condition. To date, no drug has been found to cure this condition. Those with this condition therefore have to learn to live with it and minimize its effects. Amongst the major forms of treatment include:

• Physical therapy. This is usually administered for the patients with severe cognitive impairment which hinders movement and coordination. It is done at the early stages so as to ensure the patient is able to move.
• Behavioral therapy. Most of the patients who suffer from Fragile X Syndrome usually exhibit behavioral disorders such as ADD, ADHD, autism and many other anti-social behaviors. These can be controlled through behavioral therapy.
• Pharmaceutical drugs. Pharmaceutical drugs are normally administered in rare cases and for control purposes as opposed to curing the problem. Any drugs administered to such patients must be prescribed by professional doctors.

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