Monday, December 22, 2008

FRAGILE X SYNDROME

Fragile x is the most common inherited form of mental retardation. It is characterized by expansion of GCC triplet on the 5'-side of the FMR-1 gene.(FMR= fragile x mental retardation). This expansion then turns off the normal expression of FMR-1 gene (synthesis of FMRP=fragile x mental retardation protein), by methylation of CpG sites.The appearances of the sufferer are,long face and large ear.

Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body's cells, especially cells in the brain, to develop and function normally. The amount and usability of this protein, in part, determine how severe the effects of Fragile X are.

The amount of FMRP in the body is one factor that determines how severe the effects of having Fragile X are. A person with nearly normal levels of FMRP usually has mild or no symptoms, while a person with very little or no normal FMRP has more severe symptoms.

Scientists are still studying the role of FMRP in the body. Researchers believe that FMRP may regulate the amount of communication between cells and keep it under control.

Those with Fragile X have impaired intellectual functioning, which affects their ability to think, reason, and learn. In most cases, researchers use an intelligence test to measure intellectual functioning, resulting in an IQ (intelligence quotient) score. But this score reflects many things besides the ability to think. Attention disorders, hyperactivity, anxiety, and language processing problems can interfere with test-taking skills and learning. Because many people with Fragile X have these problems, a person with Fragile X may have more capabilities than his or her IQ score suggests.
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About their IQ, less than 20 percent of males with Fragile X have an "average" IQ . At the same time, few people with Fragile X are severely or profoundly impaired, with IQs below 40 or 25, respectively. In general, those with a full mutation tend to have an IQ somewhere in between 40 and 85, which is considered mild to moderate mental impairment.

No matter what their IQ or areas of intelligence, all children and adults with Fragile X are capable of learning. Most children will progress in school and develop basic academic skills. Many adults can learn to take care of themselves and work at a job. People with Fragile X may need more time to learn, special teaching methods, or a specially tailored environment , but they usually can and do make steady progress.

Many factors influence intelligence, and, like most individuals, people with Fragile X have areas of both strength and weakness. For example, people with Fragile X tend to have good memories for pictures and visual patterns. This ability helps them to learn to recognize letters and words. They are also generally able to follow instructions that are presented as pictures. Their main weaknesses are in thinking about abstract ideas, organizing information, planning ahead, and solving problems.

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So,i finally have to admit, he does not suffer from Fragile X. Well, is there any possibilities of a Fragile X boy to hold a SAM certificate? And not all who has long face and large ear has Fragile X Syndrome.

Alhamdulillah.

A quickie on my being now. Well,i recover =). Hehe. I won't promise that i won't write that kind of entry again,btw.haha. And i still have exams queue up waiting for their turns which means i have to hold from being overjoy.

But oldies(those who read this,and age >20), i want to ask something. When you past 19,and in waiting for your 20th birthday, did you ever being extremely critical over your surrounding? Like you feel hyper-annoyed when you see others dress sluggishly, or when you heard lame jokes, you let out profanities fluently, or when others' wheezing when they do not suffer from asthma attack can make you feel so distress, or when you want to bang those who slammed things in front of you? Or is my surrounding worths all of it? This pseudoanimosity is strangling me half-dead.*curses*

It's winter now, and i'm still dwelling in this burning hot temper.

"Hot-tempered girl is never sweet" <--that explains a lot.

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