Fragile X Syndrome
...her proteins so when FMRP is not present other neccessary proteins are not produced. The nonexisence of these proteins affects neurons in the brain. Normally as you grow older unneccessary connections between brain cells are cut, this is aprocess called pruning. This proccess doesn't happen in the brain of a person with Fragile X Syndrome. The connections are made with parts of the neuron which attach to the soma or body, called dendrites of more specifically tiny protrusions from the dendrites called dendritic spines. Communication between neurons usually takes place through these dendritic spines. However, because pruning doesn't take place, in a person with fragile X there are too many dendritic spines and they are too long. This will cause the wrong connections to be formed in the brain and the characteristics we now define as Fragile X. Before symptoms are able to be seen Fragile X syndrome can be diagnosed theough a blood test. Depending on the specific situation, there are a few different approaches to this testing which can be taken. If the testing is specifically for Fragile X Syndrome or other trinucleotide expansion in the gene associated with the syndrome then the test is as staraight forward as any other blood test. If the background of the issue is known, as well as DNA analysis, routine cytogenetic analysis should be preformed. The cytogenetic analysis is neccessary as basic chromosome abnormalities are as, if not more common than Fragile X when an individual is referred for testing. If the individual is considered "at risk" because of a family history of Fragile X and the relative(s) with the syndrome was diagnosed based on previous cytogenetic testing, DNA testing should take place for the relative as well. If a mother is a known carrier of the gene for Fragile X prenatal testing can take place. However at the time of testing, often the involved gene is not yet developed, as such the results should be determined with caution. Often times a follow-up testing is done. After the symptoms show an individual can be diagnosed through just that; the symptoms, though a DNA test is neccessary also. Often times because of the wide variety of symptoms and degree a diagnosis will change of time or from doctor to doctor, for example from Fragile X Syndrome to Autism. The symtoms of Fragile X vary from person to person. No person with Fragile X syndrome will have all of the symptoms and none of the symptoms affect every person with the disorder. The disorder also differs between males and females. Males with Fragile X will usually have some significant intellectual disability which can range anywhere from subtle learning disabilities to severe mental retardation and autism. Behavioral characteristics include attention deficit disorders, speech impairments, repetitive behaviors, hand biting (hitting ect.), poor eye contact, other "autistic behaviors", and avoidance of touch and noise. Many of the physical characteristics are not often seen before puberty, including large ears, a long face, prominent chin, and large testicles. There ...