Issuu on Google+

Information About Fragile X Syndrome Also referred to as Martin-Bell syndrome, Fragile X syndrome is most commonly found in the countries that make up South America. It is the most common single gene issue that will result in the patient developing autism or another mental disability. The symptoms, which mostly effect men and boys, are very widespread and include both physical and mental characteristics. Perhaps the more common physical features of the syndrome are a long face, larger ears that stick out, while frequent involuntary hand gestures are common as well as being uncomfortable in social situations. At this time there is no known cure and no drugs have any powerful benefit for patients that suffer from the syndrome.

Symptoms

In addition to the physical features of the face that are associated with the syndrome, many patients will have large flat feet as well as larger testes. Most patients will have a difficult time adding muscle tone to their body and will report having very soft skin. Additionally, being double jointed in the thumbs has a strong correlation with the syndrome. As far as the development of intellectual prowess, the effect varies on a very wide scale. While some patients will see slight learning disabilities, others will become mentally retarded. In the case of women, the syndrome has a smaller overall effect on their mental wellbeing. Specifically within the syndrome, short-term memory including visual memory is greatly affected. Additionally, many patients will have a difficult time with basic math and science. However, in many instances patients will not have trouble developing verbal abilities.

Relation to Autism

The syndrome is actually the leading cause of autism. In total, Fragile X makes up around 5% of all reported cases of autism throughout the world. Looking from the other perspective, it is estimated that 15-60% of patients with Fragile X will develop autism during their life. At this point in time, the best predicator of whether patient with the syndrome will develop autism is their behavior. When the patient is withdrawn and socially uncomfortable, it is usually a good sign that they are headed towards autism. Examples of this include poor eye contact, avoiding social interaction, inability to form friends, and not looking anyone in the eye. However, it has been proven that those with the syndrome can form peer groups. Once this has been done, patients with Fragile X syndrome usually develop strong bonds


with those people. However, once placed in a new and unfamiliar situation, they will become shy and uncomfortable once again.

Treatment

There is no current medication that can be used to help fight the onset of the syndrome. However, researchers are working with behavioral therapy to help those that are living with the syndrome. Furthermore, medication can be used to treat the secondary effects of the syndrome. For example, ADHD commonly affects those with the syndrome, and medication can be used to help against it.

Additionally, speech therapy can be used for those that need it in order to help them overcome irregular speech patterns that might exist. Learn more on the following website - Fragile X syndrome .


Information about fragile x syndrome