Fragile of of all intellectual disabilities are because of

Fragile X Syndrome (FXS) a condition embedded in the genetic code that enables development complications consisting of learning disabilities along with cognitive impairment, and is the most known type of inherited form of intellectual disability. This condition was first discovered in 1943 by two British scientists by the names of Physician James Purdon Martin and geneticist Julia Bell. In their research Martin and Bell correlated mental retardation was a sex-linked disorder. Later on in 1969 Herbert Lubs elaborated a chromosomal test for Fragile X.                       FXS is an intellectual disability following down syndrome and it being a sex  linked disorder; males are at higher risk of inheriting this genetic trait. Affecting 2% of the world’s  general population that is one in four-thousand  males and one in eight-thousand females. About 20% of of all intellectual disabilities are because of this genetic disorder. FXS consists of behavior that is like or similar to that of Autism, increased susceptibility to  seizures, this will also show a delay in development,  abnormally large testes in males, and a decrease in intellectual disability.  Other examples of problems that may face a person with FXS on a daily basis would be hyperactivity, social extraction, defensiveness, and anxiety. A victim of this disorder may need assistance with functional skills especially older males. This disorder is not necessarily  life threatening but it can be if say the victim is left unsupervised because they can not fully look out for themselves, and if they can it’s only to an extent. This disorder can be physically limiting because there are connective tissue abnormalities such as hyperextensive joints or mitral valve prolapse. It being a sex linked disorder it most likely affects boys. Usually children born with  FXS can be diagnosed if born with a big head circumference. This disorder can also be identified by running a genetic test called Polymerase Chain Reaction (P.C.R) which is done in order to recognize expanded mutation (known as a triplet repeat) located in the FMR1 gene. Inheritance is facilitated whenever one of the genes copied is strong enough to cause the condition to be passed down. This gene disorder can only be passed down by females and is a dominant trait; it is located on the twenty-third chromosome. This disorder is treated with supportive management  therapy because there is no known cure for FXS. These therapies consist of vocational training and special education. Most of the recent therapeutic inventions engineered today are drug based and focus on reducing downstream signal transduction pathways and action in the activity group 1 mGluRs gene. Affected individuals will have a somewhat delayed development and slurred speech and language  impairment. In order to accommodate to these needs treatments available help to lessen and alleviate the attributed behavior. Caregivers are necessary  in order to maintain an individual due to lack of mental development and disabilities. Very little is known about Fragile X Syndrome even though if FMR1 which is the gene that causes this disease was discovered over two decades ago the pathophysiology remains a mystery. Which complicated any further research. conclusively, hopefully at the rate that science is advancing we manage to find a cure for this disorder.

x

Hi!
I'm Owen!

Would you like to get a custom essay? How about receiving a customized one?

Check it out