Description
Welcome to my Fragile X Syndrome page. Fragile X Syndrome (FXS) is the most common inheritable mental impairment. It is passed down from mother to child. Even if the mother is a carrier of the disease but is not affected, the parents could have an affected child, as shown in the diagram below. It happens when there is just a single change or mutation in a gene. The gene that is resonsible makes the protein your brain needs to function. A mutated gene produced little or none of the protein your brain needs, causing the symptoms of FXS. Fragile X Syndrome can range from learning disabilities to more serious intellectual disabilities.
Symptoms include: intelligence and learning disabilities, physical disabilities, social and emotional disabilities, speech and language disabilities and sensory disabilities. Symptoms are usually milder in girls. The physical features of Fragile X syndrome in males are long faces and ears (as seen in the drawing below) frequent ear infections and macroorchidism (enlarged testicles). The only physical feature of Fragile X Syndrome that happens only to females is POI (premature ovarian failure). Physical features due to Fragile X syndrome that both males and females can have are double-jointedness, a murmur or click in the heart called mitral valve prolapse, and flat feet. It is estimated that there are about one in 4,000 males that have the Fragile X Syndrome full mutation, and about one in 8,000 females have full mutation, although one in 259 females are carriers on the disease. [1] Females carry two X chromosomes, and males only carry one, so girls and women with FXS can have full retardation, but they usually only have slight learning or social disabilities. Many people with FXS also have autism. Between 2% and 6% of people with autism are caused by Fragile X Syndrome gene mutation, and one third of people with Fragile X Syndrome have autism. Fragile X Syndrome is the most commonly known single gene cause of autism.[2] Here are two videos about FXS.
 Above is a drawing of what some one with FXS may look like.
Treatment
There is no cure or definite treatment for Fragile X Syndrome, although there are many ways to minimize the symptoms. If the person receives proper education and behavioral, occupational, and language therapy, he or she has a better chance of using their skills to a fuller potential. Medication can also be useful for eliminating the symptoms of hyperactivity, aggression, anxiety, and poor attention span. Folic acid has been found to improve hyperactivity and attention deficits in some pre-adolescent males with Fragile X Syndrome. [3] Every person with Fragile X Syndrome has different abilities and difficulties. Each person needs to have a careful evaluation so their friends, family, and doctors know how to treat their specific needs. Adults who are carriers of Fragile X Syndrome are recommended to attend genetic counseling to discuss the risks and likelyhood of having a child with the disease.
Speech and Language Therapy
Research
Since the discovery of FXS, there has been tremendous progress in the understanding of this disorder. Scientists are currently researching genes and proteins to figure out how to make effective medication and find a hospital treatment to cure Fragile X Syndrome. Researchers have not yet found a cure, but there is hope that further understanding of the genetic disease will lead to new therapies. At the moment FXS can be treated with behavioral therapy, medication, special education, and when needed treatment of pysical abnormalities, such as surgery to fix some physical retardation. Using genetic screening in vitro fertilized embryos, followed by implanting embryos that don't have the disorder, may be available to would-be parents in the near future. It only costs $95 to have a pre-natal test taken on a fetus. $95 can make a big difference in the outcome of the parents life because it can tell then if their baby has Fragile X Syndrome, and gives the parents a choice to abort the baby, or prepare for a child with dissabilities. 87% of women with a Fragile X fetus decide to undergo pregnancy termination because it is very difficult to raise a child with FXS and it is also costly. The average cost of raising a child with FXS is aproximately 615,000 dollars. If the parents decide to extensive tests to provide the best future for their mentally challenged child, the costs can add up to $1.1 million dollars.[4]
The diagrams below show inheritance when both parents are normal, and have no Fragile X genes(left), and when the mother is a carrier of the disease, and has one mutated gene(right).
Stable Allele
  Premutation . Unstable allele Expansion to full mutation
These are the levels of Fragile X syndrome. A stable allele is not effected at all, premutation is when you are a carrier, and can pass it on to the next generation, unstable allele is when you have some symptoms of FXS, and some mental retardation, and full mutation is when FMR-1 protein is absent and the child has all of the physical, mental, and behavioral signs of Fragile X Syndrome. Abnormal methylation of FMR-1 gene Current Events
Current research is studying many important areas of Fragile X Syndrome. For example, the role of FMRP (the mutated gene that is the cause of FXS) and RNA as partners. Also under examination is the function of the several domains of FMRP, an RNA-binding protein, that is still unknown. One hypothesis is that many of the FXS symptoms are caused by the activation of mGluR5, a metabotropic glutamate receptor. It was found in a 2007 study that suggested that mGluR5 blockers could be used to treat Fragile X Syndrome. Scientists have been doing many studies on mice, and it may lead them to make further discoveries on what is effective on humans. Although a cure for Fragile X Syndrome has not been found, there is hope that further understanding of the disease will lead to new treatments.[5]
The article above is about the FMRP, mGluR5 and RNA (they cause the mutated Fragile X gene). Desribed are the tests done on mice, what happened to them, and what it means for future treatment of FXS.
This article explains how to test for Fragile X Syndrome. It talks about genetic testing and counseling. Another factor of fragile X is the size of the allelles and their repeats. Molecular genetic testing is appropiate for finding the results as shown in the figure below.
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Genetics
The Fragile X gene was discovered when Martin and Bell in 1943, described a pedigree of X-linked mental disability. In 1969 Chris and Weesam noticed an unusual "marker X chromosome" in association with mental disability. In 1970 scientist, Frederick Hecht developed the term "fragile site", but it was not 1991 when modern scientists discovered the genetic disease, and called it Fragile X Syndrome. Fragile X Syndrome received it's name when the scientists studied a group of mentally retarded boys and found that thay all had a small break in the X chromosome. They saw that it was broken and fragile, so they called the genetic disorder Fragile X syndrome, based on the studies and conclusions that earlier scientists had found. Fragile X Syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome. This results in a failure to pruduce the FMR-1 protien, which is needed to develop normally. Ther are four forms of FXS that relate to the length of the CGG sequence. The first type is normal and it is 29 through 31 CGG repeats, the second type is Premutation 55-200 CGG repeats, the third type of FXS is full muation which is more that 200 CGG repeats, and the final form is Intermediate, 40-60 repeats. The FMR1 gene in a normal person only has 6 to 55 CGG repeats. In someone with fragile x syndrome, the allelle will repeat over 230 times. Expansion of the GCC repeating to such a degree causes the DNA to effectivly silence the espression of the FMR1 protein. The mutation of the FMR1 gene leads to also silencing the fragile X mental retardation protien, FMRP. In normal human beings, FMRP is thought to regulate a substantial population of mRNA (messenger ribonucleic acid), that is part of producing protein in protein synthesis.FMPR has an important part in learning and memory. Children and Adults with FXS have an extremely hard time learning, and have very small memories. [6]  The FMR1 gene is found on the long (q) arm of chromosome X at position 27.3. The FMR1 gene is located from base pairs 146,801,200 to base pair 146,840,302 on the X chromosome.
 A female has two X chromosomes, and a male only has one X chromosome.Both genders get one X chromosome frome their mother, and either and X or Y chromosome from their father. It is much more common that a male will inherit Fragile X Syndrome, because they only have one X chromosome, and if that one is mutated they have Fragile X Syndrome. Since a female has two X chromosome, both of them would have to be mutated, to have the full mutation of Fragile X Syndrome. If only one of the X chromosomes are affected, then they are a carrier of the Fragile X gene, but are unaffected, and show no symptoms of Fragile X Syndrome, although they may have premature ovarian falure, and are able to pass the Fragile X gene on to their offspring.
Maternal Repeat % Of Offspring
Size With a Full Mutation 55-59 3.7% 60-69 5.3% 70-79 31.1% 80-89 57.8% 90-99 80.1% >100 94-100% The chart above shows the chance of having offspring with a full mutation, depending on how many CGG repeats you've had.
A Day In The Life
Life is very hard for people with fragile X and everyone around them. A huge challenge in their life is dealing with their physical characteristics. Males have a long narrow face, large ears, macroorchidism (enlarged testicles), double jointed fingers, flat feet, puffy eyelids, and "hollow chests". It is very hard for them because there is nothing that can be done about these abnormalties, and they may be teased or ridiculed because of their unusual appearance.
The national Fragile X Foundation Above is a man with FXS.
Another enormous challenge people with FXS have to live with are their behavioral characteristics. The most common behavioral characteristics of children with Fragile X are attention and hyperactivity problems, known as Attention-Deficit Hyperactivity Disorder (ADHD). People can take medication such as Ritalin® , Cylert® and Dexedrine®, that treat ADHD, but they can cause side effects such as irritability and poor appetite. Some males with fragile X syndrome may also have occasional seizures that can be traumatic,and make it hard for family and friends to relax. It is vey likely that children with FXS will have severe mood swings and temper tantrums. The reason they have these outbursts is because they have strong reactions to changes in their environment. Extreme hypersensitivity makes it really hard for them to ignore disturbing things such as noise, lights or odors, causing them to have emotional outbursts or tantrums. People with fragile X have similiar behaviors as people with autism, including hand flapping, hand biting, poor eye contact, and responding negatively to being touched (tactile defensiveness). The difference between children with autism and children with fragile x is that with fragile X you are friendly and very social, but with Autism, it is very hard to relate to others.
Mental retardation associated with Fragile X Syndrome is very similar to the mental retardation seen in Down Syndrome. It is in the middle range of impairment, meaning that there are forms of mental retardation that are more serious, but there are also forms that are less serious. However, females and males have different forms of mental dissabilities with fragile x. For example, females often have a difficult time with mathmatics, but do exceptionally well in reading, while males excel in everything but reading! Females with fragile X are typically very shy, but males tend to be the opposite; enjoying the company of other people.
Speech and language is very difficult for people with FXS. Children usually speak in rapid bursts or echolalia (repeat words). For males, the primary language difficulty is the inability to complete a sentence because of continuous repetition of words at the end of a phrase. That is called perseveration. Speech problems are made worse when they have to make eye contact with whom they are talking to, and they become anxious. Scientists believe that these language difficulties are related to difficulties with sensory processing.
People with FXS also have to live with several medical problems that most people don't normally have. For example, they often suffer from otitis media (inner ear infections), that are very painful and need to be treated right away to prevent any permanent damage. People with FXS often have myopia (nearsightedness), and there is also a higher incidence of "lazy eye" in people who are affected by FXS. Orthopedic difficulties include flat feet and joint problems. 20% of males are prone to seizures, both petite and grand mal. Children with Fragile X Syndrome can also have digestive disorders such as gastroesophageal reflux, that results in gagging, regurgitation, and discomfort.
A day in the life of a person with fragile X Syndrome is very difficult. They have to deal with physical disabilities and mental dissabilities that are very hard to handle on a daily basis. People with FXS typically do not live independently, and need special education starting from a very early age to be able to learn and gain skills to make their lives eaisier. [7]
Fragile X Syndrome Checklist
Above is a test that shows if you have Fragile X Syndrome. If you receive a high score on the test, or you or your family have thought that you may be a carrier of FXS it is recomended that you consult a doctor. The national Fragile X Foundation
1.echolalia - the uncontrollable and immediate repetition of words spoken by another person. 2.perseveration - the pathological, persistent repetition of a word, gesture, or act, often associated with brain damage or schizophrenia. 3.mutation - a sudden departure from the parent type in one or more heritable characteristics, caused by a change in a gene or a chromosome. 4.gene - the basic physical unit of heredity; a linear sequence of nucleotides along a segment of DNA that provides the coded instructions for synthesis of RNA, which, when translated into protein, leads to the expression of hereditary character. 5.protein - the plant or animal tissue rich in such molecules, considered as a food source supplying essential amino acids to the body. 6.allele - any of several forms of a gene, usually arising through mutation, that are responsible for hereditary variation. 7. hyperactivity - displaying exaggerated physical activity sometimes associated with neurologic or psychologic causes. 8.chromosome - any of several threadlike bodies, consisting of chromatin, that carry the genes in a linear order: the human species has 23 pairs, designated 1 to 22 in order of decreasing size and X and Y for the female and male sex chromosomes respectively. 9.genetic screening - assessment of an individual's genetic makeup to detect inheritable defects that may be transmitted to offspring. 10. mental retardation - a developmental disorder characterized by a subnormal ability to learn and a substantially low IQ. 11.gastroesophageal - Of or relating to the stomach and esophagus. 12.mRNA - messenger RNA.
Bibliography
References
Friday, January 16, 2009. The National Fragile X Foundation. 22 Jan 2009 http://www.fragilex.org.
[2]
"Fragile X Syndrome." 09/07/2006. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/. "Fragile X Syndrome." www.Medicinenet.com. Government. 22 Jan 2009 http://www.medicinenet.com/fragile_x_syndrome/page5.htm.
[5]
"Fragile X Syndrome." www.Answers.com. 22 Jan 2009 http://www.answers.com/topic/fragile-x-syndrome. "Fragile X Syndrome." University of Michigan Health System. 22 Jan 2009 http://health.med.umich.edu/healthcontent.cfm "Fragile X Syndrome." 8/6/2007 . Standford University School of Medicine. 22 Jan 2009 http://med.stanford.edu/clinicaltrials/results
"Fragile X Syndrome." www.Wikipedia.org. 23 January 2009. http://en.wikipedia.org/wiki/Fragile_X_Syndrome.
[1] [6]
"Fragile-X Syndrome." www.wrongdiagnosis.com. 21 January, 2009 . http://www.wrongdiagnosis.com/f/fragile_x_syndrome/intro.htm.
"Fragile X Syndrome." www.allkids.org. All Children's Hospital. http://www.allkids.org/body.cfm?id=139.
"Fragile X Syndrome." www.K12academics.com. K12 Academics. http://www.k12academics.com/fragile_x_syndrome.htm.
"Fragile X Syndrome." www.kidneeds.com. 2001. http://www.kidneeds.com/.
[7]
Saul, Tarleton, Robert, Jack. "FMR1-Related Disorders." www.ncbi.nlm.nih.gov/ Gene Reviews.<http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?
book=gene&part=fragilex>
"Fragile X Syndrome." www.healthscout.com. <http://www.healthscout.com/ency/68/599/main.html>.
[3]
Musci, Thomas J.. "Fragile X Syndrome: Carrier Screening in the Prenatal Population."
[4]
Bonus
Fragile X Syndrome
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whos is this
GOOD
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