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Fragile X Syndrome: more books (72)

Fragile X syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Judith, MS Sims, Nada, MS, CCGC Quercia, 2006

Do women with fragile X syndrome have problems in switching attention: Preliminary findings from ERP and fMRI [An article from: Brain and Cognition] by K. Cornish, R. Swainson, et all 2004-04-01

21st Century Complete Medical Guide to Fragile X Syndrome, FRAXA, Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-04-16

Fragile X Syndrome: Medical and Educational Approaches Toward Intervention (Informational) by Randi Jenssen Hagerman, 1994-01

Fragile X Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Health Publica Icon Health Publications, 2004-01-05

Fragile X Syndrome by Randi Jenssen Hagerman, Pamela McKenzie McBogg, 1983-06

The 2002 Official Patient's Sourcebook on Fragile X Syndrome

The Source for Fragile X Syndrome by Gail Harris-Schmidt, 2004-01

Behavior and Development in Fragile X Syndrome (Developmental Clinical Psychology and Psychiatry) by Elisabeth Dykens, Robert M. Hodapp, et all 1993-11-05

Fragile X Syndrome: Diagnosis Biochemistry & Intervention by Randi Jenssen Hagerman, Pamela M. McBogg, 1983-06

The Fragile X Syndrome (Molecular Medicine)

Delineation of early attentional control difficulties in fragile X syndrome: Focus on neurocomputational changes [An article from: Neuropsychologia] by G. Scerif, K. Cornish, et all 2007-01

Fragile X syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Nada, MS, CCGC, CGC Quercia, 2005

Ocular motor indicators of executive dysfunction in fragile X and Turner syndromes [An article from: Brain and Cognition] by A.G. Lasker, M.M.M. Mazzocco, et all 2007-04-01

lists with details

What Is Fragile X?
fragile x syndrome is the leading inherited cause of developmental disabilities and mental impairment worldwide. It affects 1 in 2 000 males and 1 in
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
NICHD - Publications On-line
Statistics Prevention Employment Fellowships Research Resources Health Information Media Publications Facts About fragile x syndrome
http://www.nichd.nih.gov/publications/pubs/Fragilex.htm
Carolina Fragile X Project
A series of studies examining the impact of fragile x syndrome (FXS) on individuals, families and the agencies that serve them.
http://www.fpg.unc.edu/~fx/

Extractions: This web site is designed to increase public awareness and understanding of young children with fragile X syndrome (FXS). Visitors to our site can expect to: The Carolina Fragile X Project is located at the FPG Child Development Institute , one of the nation's oldest multidisciplinary centers for the study of young children and their families. Research and education activities of the Institute focus on child development and health, especially factors that may put children at risk for developmental problems.
Pediatric Neurology
Treating conditions from learning and behavior disorders to those requiring critical care. Includes details of specialist clinics for muscular dystrophy, epilepsy and fragile x syndrome. Part of the Rush University Medical Center, Chicago, Illinois, USA.
http://www.rush.edu/rumc/page-R12245.html

Extractions: The Section of Pediatric Neurology treats a wide range of diseases from learning and behavior disorders to those requiring critical care. We provide medical care for children with meningitis, encephalitis, epilepsy, brain tumors, central nervous system infections, mental retardation, cerebral palsy, muscular dystrophy, neuropathies, spina bifida, hydrocephalus, central nervous system malformations, neurocutaneous disorders and attention deficit disorder. Muscular Dystrophy Clinic : The largest program of its kind in the Chicago area, this clinic is operated by the Section of Pediatric Neurology in conjunction with the Neurology and Orthopedics departments. The clinic is associated with the Muscular Dystrophy Association. Fragile X Syndrome Clinic : This clinic is dedicated to the care of children with Fragile X syndrome, an X-chromosome-linked condition that is the most common inherited cause of mental retardation. The clinic is the only one of its kind in Chicago and one of few in the Midwest. Rush Epilepsy Center : One of the largest programs of its kind in Chicago, the center offers many treatment options for children with epilepsy and other seizure-related disorders.
Fragile X Syndrome - Description, Links And Books
, Links and Booksfragile x syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Fragile X - Fragile X Syndrome - Mental Retardation - Genetic
Read Article SHARED NEUROBIOLOGY OF fragile x syndrome AND AUTISM.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
CCD: Youth And Family: Fragile X Syndrome
Fact Sheets for Health Professionals. Contact numbers are Victorian.
http://hnb.dhs.vic.gov.au/commcare/yafs_yf.nsf/0/1d5baac3ccee72744a256744000645a
CCD: Youth And Family: Fragile X Syndrome
From the Victorian Government, Australia.
http://hnb.dhs.vic.gov.au/commcare/yafs_yf.nsf/bced7550634b825a4a25676c00482e1b/
Fragile X - Fragile X Syndrome - Mental Retardation - Genetic Defects - Autism -
Fragile X is the leading inherited cause of mental retardation. This site creates a virtual research center in Israel for the research and cure of Fragile
http://www.conquerfragilex.org/

Extractions: FRAGILE X INCLUDED IN 2006 BUDGET DIRECTIVES: As in past years, Conquer Fragile X Foundation worked hard to be sure that Fragile X research receives continued funding through the federal government. For the first time, International Fragile X research is included in the directives through the Fogarty Institute. Following is the language the House and Senate agreed upon: Read the Language OF FRAGILE X RESEARCH LITERATURE. HistCite was developed by Dr Eugene Garfield, founder of the Institute of Scientific Information and the inventor of citation analysis. Dr. Garfield has made this comprehensive compilation of Fragile X research literature available to Conquer Fragile X Foundation website users. Visit HistCite to see what's new and important in Fragile X research. Link to Fragile X Research Through HistCite.
Fragile X - Fragile X Syndrome - Mental Retardation - Genetic Defects - Autism -
Fragile X is the leading inherited cause of mental retardation. This site creates a virtual research center in Israel for the research and cure of Fragile
http://www.conquerfragilex.org/about.php

Extractions: Fragile X syndrome is the leading hereditary cause of developmental disabilities in all populations. The absence of a functional fragile X gene shuts off production of a special protein in the brain needed for normal cognitive development. Without this protein, children with the syndrome will never learn normally, despite hours of therapy and rehabilitation. Visit the links at right to learn more about this common genetic condition. What is Fragile X In 1991, scientists discovered the gene (called FMR1) that causes Fragile X. In individuals with Fragile X Syndrome, a defect in FMR1 (a full mutation) shuts the gene down. Like a defective factory, the FMR1 gene cannot manufacture the protein that it normally makes. Some individuals are fragile X carriers; they have a small defect in the FMR1 gene (called a premutation) but do not show symptoms of Fragile X . Fragile X is inherited. Carrier men (transmitting males) pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene. The Fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome. A DNA blood test identifies both carriers and affected individuals. While the exact prevalence of Fragile X is unknown, recent studies indicate the statistics below:
Fragile X Syndrome: What Is It?
Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders fragile x syndrome, sexlinked disorder.
http://www.ygyh.org/fragx/whatisit.htm
Fragile X Syndrome - Your Genes, Your Health - DNA Learning Center - Cold Spring
Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders fragile x syndrome, Marfan syndrome, Hemophilia,
http://www.ygyh.org/fragx/description.html

Extractions: Fragile X Syndrome All the symptoms of Fragile X can be traced back to a mutation in one gene called FMR1 on the X chromosome. People who have Fragile X carry an FMR1 gene that is much bigger than usual. The gene is bigger in a region where three bases CGG are repeated. The number of repeats varies from person to person, usually ranging from 7 to 60 repeats in people without Fragile X. The most common version of the gene has 30 repeats. People with Fragile X have 200 or more repeats. In this case, the gene is called a "full mutation." When there are so many repeats in the gene, other molecules called methyl groups attach to the cytosine (C) bases in the repeats. The added methyl groups inactivate, or "turn off," the gene, and the gene fails to produce its protein FMRP (Fragile X Mental Retardation Protein). Without this protein, a person develops the mental impairment and other characteristics of Fragile X. Exactly how this happens is unclear, but scientists believe FMRP helps produce other proteins. Without FMRP, these other proteins are never made. In the following audio sections, Fragile X researcher Dr. Esther Nimchinsky explains how the absence of these proteins affects cells in the brain. Ironically, when were young, we have more connections between our brain cells than when we're older. As we grow and mature, unnecessary connections are cut in a process called pruning. In people with Fragile X, the connections are not pruned. Geneticists frequently use two DNA tests to diagnose Fragile X. Both of these tests measure the size of the FMR1 gene but they cover different ranges. One test PCR detects normal-sized genes and pre-mutations, while the other Southern blot detects larger, full mutations. The patient need only supply a blood sample to take both tests. Technicians isolate and purify the DNA from the white blood cells after the sample is sent to a lab. First we'll explain the PCR test. In this test, a small segment of DNA containing the FMR1 gene is isolated from the sample and copied millions of times. The next procedure in the test measures the size of the gene. The geneticist loads the DNA into the top of a slab of gel. (The gel looks remarkably like Jello but doesn't taste as good). Several different samples can be loaded into the same gel. After the samples are loaded, electric current "pushes" the DNA fragments down the length of the gel. (Not sideways, not up, just down). As the pieces move down the gel, they wind their way through the tangled gel matrix. Small pieces do this easily so they zip through the gel quickly. Big pieces have a harder time so they move more slowly. After a set period of time, small pieces have migrated to the bottom of the gel, while big pieces have remained near the top. The DNA is invisible but shows up as dark "bands" after it is dyed. This is a real gel showing DNA from two males. (Males have one X chromosome, so they only have one band). The male on the left, with the lower band, has the smaller number of repeats. The male on the right has a larger gene (a pre-mutation) with more repeats. The female patterns are more complicated. Each female has two bands representing her two X chromosomes. The first female has two normal-sized genes with slightly different numbers of repeats. The second female has one normal-sized gene and one pre-mutation with about 58 repeats. Though the PCR test can pick up normal-sized genes and pre-mutations, it can't detect full mutations (200 or more repeats). Geneticists use another test Southern blot analysis to detect these larger mutations and diagnose Fragile X. Though the details differ from the PCR test, the gist of the test remains the same: measuring the size of the FMR1 gene. First, enzymes cut the DNA on both sides of the gene. In the diagram below, the enzymes free a small fragment containing a FMR1 gene with 7 repeats. First, enzymes cut the DNA on both sides of the gene. In the diagram below, the enzymes free a small fragment containing a FMR1 gene with seven repeats. When the FMR1 gene has 200 repeats or more, the enzymes free a much larger fragment. In essence, identifying a person with Fragile X is easy. The geneticist simply looks for the presence of this very large fragment on a gel. The large DNA fragment with a full mutation shows up as a fuzzy smear above the dark blue line. The line is a size marker. The blue arrow points to a male with a full mutation (notice he has no other bands), and the red arrow points to a female with a full mutation. She has additional bands representing her other X chromosome. If you're wondering why the full mutation band is so much fuzzier than the others (and if you're not you can quit now), the answer lies in the source of the DNA. Each band is filled with DNA from many different cells. When every cell in the sample contains the same-sized gene, all the DNA fragments migrate to the same spot in the gel, and make a distinct band. When every cell in the sample contains the same-sized gene, all the DNA fragments migrate to the same spot in the gel, and make a distinct band. When cells have different-sized FMR1 genes as the cells of most people with Fragile X do the sample contains DNA fragments of various sizes. These migrate to different locations, and the end result is a diffuse smear. Fragile X is just like any other sex-linked disorder, because the "Fragile X" gene (FMR1) is on the X chromosome. The X is one of two types of sex chromosomes: X and Y. Girls have two X chromosomes (making a girl a girl), and boys have one X and one Y (making a boy a boy). This "mismatch" in the sex chromosomes of boys makes them more susceptible to disorders caused by genes on the X. A girl has two X's, and therefore, she has two copies of the FMR1 gene. If one is mutated, she can fall back on the unmutated copy. A boy has only one X. If he has a mutated copy, he has no other copy to fall back on. A boy gets Fragile X when he inherits an X with a FMR1 mutation from his mother. (She is called a "carrier," because she carries the mutation but doesn't have the disorder). For most sex-linked disorders, this would be the end of the story, but Fragile X has an additional mode of inheritance that's just plain weird. In this mode, a boy gets Fragile X when the X from his mother carries a pre-mutation in the gene. (A pre-mutation has between ~55 and 200 repeats and does not cause Fragile X). If a boy inherits the pre-mutation, it can expand into a full-sized mutation during his early embryonic development. In this mode, a boy gets Fragile X when the X from his mother carries a pre-mutation in the gene. (A pre-mutation has between ~55 and 200 repeats and does not cause Fragile X). If a boy inherits the pre-mutation, it can expand into a full-sized mutation during his early embryonic development. Even weirder, the mother's pre-mutation does not always expand into a full mutation in her son. The chance of a pre-mutation (between ~55 and 200 repeats) expanding into a full mutation (greater than 200 repeats) depends on the number of repeats in the pre-mutation. (We'll discuss this more later). Though people with Fragile X are predominantly male, girls can also develop the disorder. Just like a boy, a girl can get Fragile X when she inherits her mother's full-sized mutation. Also like a boy, a girl can get a full mutation from her mother's pre-mutation if the pre-mutation expands. (The chance of a pre-mutation expansion in a girl is the same as the chance in a boy). Notice that we haven't labeled these girls with "Fragile X" signs. That's because, even though they have the full mutation, they may not develop the disorder. We have to consider another weird bit of biology called "X-inactivation." In X-inactivation a normal process in all females every cell in the early embryo inactivates one X chromosome. Once inactivated, the chromosome shrivels up and sits on the edge of the cell nucleus. No proteins can be produced from the inactivated X. In each cell, the inactivation is random, like a coin flip. The chance that the mother's X will be inactivated is the same as the chance that the father's X will be inactivated. Though people with Fragile X are predominantly male, girls can also develop the disorder. Just like a boy, a girl can get Fragile X when she inherits her mother's full-sized mutation. Also like a boy, a girl can get a full mutation from her mother's pre-mutation if the pre-mutation expands. (The chance of a pre-mutation expansion in a girl is the same as the chance in a boy). Notice that we haven't labeled these girls with "Fragile X" signs. That's because, even though they have the full mutation, they may not develop the disorder. We have to consider another weird bit of biology called "X-inactivation." In X-inactivation a normal process in all females every cell in the early embryo inactivates one X chromosome. Once inactivated, the chromosome shrivels up and sits on the edge of the cell nucleus. No proteins can be produced from the inactivated X. In each cell, the inactivation is random, like a coin flip. The chance that the mother's X will be inactivated is the same as the chance that the father's X will be inactivated. On average, half of the cells inactivate the mother's X, and the other half inactivate the father's X. After each cell inactivates one X, development continues, and each cell produces more "daughter" cells. Daughter cells inherit their chromosomes from the parent cell, so all daughter cells have the same active X as their parent. As development continues further, cells organize into different organs, including the brain. If the girl's brain mostly contains cells with an inactive X from Dad, the cells must use the fully mutated FMR1 gene from Mom's X. This gene does not produce any protein, and this girl develops Fragile X. If the girl's brain mostly contains cells with her Dad's inactive X, the cells must use the fully mutated FMR1 gene from Mom's X. This gene does not produce any protein, so the girl develops Fragile X. If the girl's brain mostly contains cells with her Mom's inactive X, the cells must use the functional FMR1 gene from her Dad's X. This gene produces protein, so the girl will remain unaffected by the disease. These two girls the completely unaffected and the fully affected are simply extreme examples in a range of possibilities. Other girls may be only mildly impaired, some may have some learning disabilities, and some may just be socially anxious. About 70% of girls with a full mutation develop some symptoms of Fragile X, while the other 30% are unaffected. Here's one final bit of weirdness about Fragile X inheritance in girls. You may be wondering why we haven't shown a father's pre-mutation expanding into a full mutation in his daughter. Though this is theoretically possible, scientists don't understand why it never happens in reality. Even though the father's pre-mutation may contain many repeats, it doesn't expand in his daughter. However, this father will give his daughter a pre-mutation, which she can pass on to her own children as a pre- or full mutation. Therefore, her father is called a "transmitting male." The chance of a child getting Fragile X depends on the usual laws of inheritance. Let's start with the simplest example: a woman with a full mutation and her partner with no mutation. A Punnett Square easily illustrates their possible children. First, we arrange each parent's genes on the outer edges of the square. A Punnett Square easily illustrates their possible children. First, we arrange each parent's genes on the outer edges of the square. The inner boxes of the square will show what possible combinations (also called genotypes) are possible in the child. Since each parent contributes one of his/her chromosomes to the child, we simply copy and paste the parent's chromosomes into the inner boxes to see the possible genotypes. The inner boxes of the square will show what possible combinations (also called genotypes) are possible in the child. Since each parent contributes one of his/her chromosomes to the child, we simply copy and paste the parent's chromosomes into the inner boxes to see the possible genotypes. Each genotype is equally likely, so there is a 1 in 4 (25%) chance of having an unaffected girl (XX), a 25% chance of having an unaffected boy (XY), a 25% chance of having a girl with the full mutation (XXFRAX), and a 25% chance of having a boy with Fragile X (XFRAXY). Of the four possible genotypes, two contain an X chromosome with a full-sized mutation. So, this couple has a 2 in 4 (50%) chance of having a child with a full mutation. (Remember, though, a girl with the full mutation does not necessarily develop Fragile X.) When the mother carries a pre-mutation on one of her X chromosomes, she also has a 50% chance of passing the pre-mutation to her child. Remember, though, that the pre-mutation can expand into a full mutation in the early embryo. The chance of this happening depends on the number of repeats in the pre-mutation. Remember, though, that the pre-mutation can expand into a full mutation in the early embryo. The chance of this happening depends on the number of repeats in the pre-mutation. Let's say the mother has a pre-mutation with 65 repeats. To calculate her chance of having a child with a full mutation, we multiply the chance of having a child with a pre-mutation (50%) by the expansion risk, in this case 17%.If the mother has a different number of repeats in her pre-mutation, we repeat the math to find out her odds of having a child with a full-sized mutation. (Remember, though, a girl with a full mutation does not necessarily develop Fragile X.) The most important thing to remember about these numbers is that they apply to every child this couple has. This concept is easiest to understand when we consider the following couple that has a 50% chance of passing a full mutation to their child. Each child is a separate "spin of the wheel," so each child has a 50% chance of receiving the full mutation. In this example, one in four children has Fragile X. It's also possible that this couple could have four unaffected children or four children with Fragile X. Notice what the 50% chance does not mean. It does not mean that precisely 50% of this couple's children will have the full mutation. And it does not mean that a second child will have a full mutation if the first one lacks it. (Or vice versa; it does not mean that a second child will lack the full mutation if the first child has it.) Fragile X gets its name from the broken appearance of the X chromosome in people with the disorder. The break is where the Fragile X gene, FMR1, is found. Fragile X individuals are mentally impaired, with problems ranging from slight learning disabilities to severe mental impairment. They may be hyperactive and hyper-sensitive to external stimuli and have short attention spans. Physically, a Fragile X individual may have a long, narrow face, prominent ears, nose and forehead, enlarged testicles and loose joints. Fragile X is the most common inherited cause of mental impairment. An estimated 1 in 2,000 boys are mentally impaired because of Fragile X. Girls are also affected, but the incidence rate is lower and the effects are usually milder. DNA tests identify persons with the disorder and women who are carriers. Approximately 1 in 260 women carry a pre-mutated FMR1 gene. Fragile X is caused by a mutation in the FMR1 gene on the X chromosome. The mutation turns off the production of the FMR1 protein, which is implicated in the development of neuronal connections in the brain. There is no known cure for Fragile X. Current drug therapies are available to improve attention span and decrease hyperactivity. Early intervention and special education programs, including speech and physical therapy, are often beneficial. Treatment Facts and Theories Symptoms Incidence Cause Testing and Screening What is it? What causes it? How is it inherited? How is it diagnosed? What is it like to have it? For more information Acknowledgments Overview of Treatments Dr. Ted Brown, Director of the New York State Institute Developmental Disabilities, talks about the treatments available to ameliorate Fragile X symptoms. Occupational Therapy Dr. Vicki Sudhalter, a clinical psycholinguist, talks about the need for occupational therapy, whick improves the physical coordination of children with Fragile X. Speech Therapy Classical methods of teaching language do not work with Fragile X children. Dr. Vicki Sudhalter talks about how speech therapy can help. Behavior Therapy Dr. Vicki Sudhalter talks about therapy of the most prevalent behavior: anxiety. Medicines Drugs that regulate hyperactivity and anxiety help 90% of children with Fragile X, according to Dr. Vicki Sudhalter. Gene Therapy Prospects Inserting a new gene into people with Fragile X may provide a complete treatment in as soon as ten years. Early Symptoms Dr. Ted Brown, director of the NYS Institute of Developmental Disabilities, talks about early symptoms in Fragile X individuals. Katie Clapp and Debbie Stevenson talk about symptoms in their sons, Andy and Taylor. Behavioral Severity Debbie Stevenson and Dr. Ted Brown talk about the severity of behaviors in Fragile X individuals. Kinds of Behavior Katie Clapp and Michael Tranfaglia talk about different kinds of behavior in Fragile X individuals and in their son, Andy. Dealing with Meltdowns Debbie Stevenson and Michael Tranfaglia talk about meltdowns (tantrums) in their sons, and how to deal with them.Dealing with others Datie Clapp talks about how strangers react to her son Andy, and what she does about it. Laura Tranfaglia talks about her friends reactions to her brother, Andy. Laura Tranfaglia talks about her brother, Andy, who has Fragile X. Debbie Stevenson talks about how her son, Taylor, who has Fragile X, interacts with her son, James.Blame and Guilt Katie Clapp and Michael Tranfaglia talk about their feelings of blame and guilt for their son, Andy, who has Fragile X. Family History Dr. Ted Brown talks about the family history of individuals with Fragile X. Mary Lou Supple and Debbie Stevenson talk about Fragile X in their extended families. Telling Family Katie Clapp and Debbie Stevenson talk about telling other family members and helping them understand their risk of having a child with Fragile X. Older Kids Mary Lou Supple talks about her 13-year old son, James, who has Fragile X. Michael Tranfaglia talks about older children and adults with Fragile X. Expectations Katie Clapp, Debbie Stevenson, and Mary Lou Supple talk about their expectations for their sons: Andy, Taylor, and James, who have Fragile X. Future Debbie Stevenson, Michael Tranfaglia, and Katie Clapp talk about planning for the future of their children with Fragile X. Alzheimer Disease
Understanding Fragile X Syndrome With The Blink Of An Eye
While researchers have long known the genetic defect underlying fragile x syndrome, they are still tracing how that defect creates the complex mix of mental
http://www.sciencedaily.com/releases/2005/08/050804125012.htm

Extractions: Source Cell Press Date Print this page Email to friend While researchers have long known the genetic defect underlying Fragile X syndrome, they are still tracing how that defect creates the complex mix of mental retardation, hyperactive behavior, attention deficits, and other problems in the disorder. Fragile X is particularly important because it is the most common single-gene cause of mental retardationaffecting about 1 in 4000 males and 1 in 8000 females in the U.S. Related News Stories New Insight Into Fragile X Syndrome: Scientists Identify Possible Link To RNAi (October 3, 2002) Two independent research groups, led by Drs. Haruhiko Siomi (Institute for Genome Research, University of Tokushima, Japan) and Gregory Hannon (Cold Spring Harbor Laboratory, USA) have discovered ... full story New NIST Reference Material Reinforces Fragile-X Screens (March 1, 2005)
Potential Treatment For Fragile X Syndrome Demonstrated In Fruit Fly Model
fragile x syndrome is one of the most commonly inherited forms of mental retardation, with an incidence of 1 in 4000 males and 1 in 8000 females.
http://www.sciencedaily.com/releases/2005/03/050309131154.htm

Extractions: Source University Of Pennsylvania Medical Center Date Print this page Email to friend Philadelphia - Fragile X Syndrome is one of the most commonly inherited forms of mental retardation, with an incidence of 1 in 4,000 males and 1 in 8,000 females. Not many medications exist to help Fragile X patients. Now, in a fruit fly model of the disease, researchers from the University of Pennsylvania School of Medicine and their colleagues have shown that it is possible to reverse some of the symptoms of the disorder using drugs that dampen specific neuronal overactivity. Their findings appear in the March 3, 2005 issue of Neuron. Related News Stories New Drug That Enhances Glutamate Transmission In The Brain Being Evaluated For Fragile X (August 28, 2002) full story Singled Out: Spotting Mutant Neurons In Normal Brains Offers Clues To Fragile X (November 2, 2004) Using an animal model system, researchers have advanced our understanding of Fragile X Syndrome by successfully visualizing individual mutant neurons in an otherwise normal brain. They find that ...
Queensland Fragile X Association
About QFXA, news, events, links and contacts. Also information of fragile x syndrome.
http://cwpp.slq.qld.gov.au/qldfragilex/
Fragile X Syndrome Pediatric Oncall
Information presented about fragile x syndrome, including the diagnoses and clinical manifestations.
http://www.pediatriconcall.com/fordoctor/diseasesandcondition/fragile_x.asp

Extractions: DCH Fragile X syndrome is a common cause of mental retardation. The incidence has been estimated at approximately 1 in 1,500 males and 1 in 2,500 females. GENETICS: Mutation of a gene on the long arm of the X chromosome is responsible for FXS and involves instability of trinucleotide repeat sequence. Normally there are 6 to 50 repeats, but with the mutation, the repetition sequence begins to expand and may increase from generation to generation eventually making this region unstable. When there are more than 200 repetitions, the fragile X mental retardation-I gene at Xq27.3 becomes hypermethylated and is inactive. This affects the gene product, the FMR-I protein, which is responsible to cause the physical, behavioral and cognitive aspects of the fragile X syndrome. A premutation carrier state exists when there are 50 to 200 repetitions of the CGG trinucleotide. The gene remains unmethylated in the premutation state and normal production of the FMR-I protein occurs.
EMedicine - Fragile X Syndrome : Article By Jennifer Jewell, MD
fragile x syndrome fragile x syndrome, also termed Martin-Bell syndrome or marker X syndrome, is the most common cause of inherited mental retardation and
http://www.emedicine.com/PED/topic800.htm

Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: July 25, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: marker X syndrome, Martin-Bell syndrome, retardation, mental retardation, mental deficiency, FRAXA, X-linked mental retardation AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Jennifer Jewell, MD , Clinical Assistant Professor, Department of Pediatrics, University of Vermont School of Medicine, Pediatric Hospitalist, The Barbara Bush Children's Hospital at Maine Medical Center Jennifer Jewell, MD, is a member of the following medical societies: American Academy of Pediatrics American Medical Association Massachusetts Medical Society , and Sigma Xi Editor(s): Michael Fasullo, PhD
Medical References: Fragile X Syndrome
fragile x syndrome is the most common inherited form of mental retardation. A genetic disorder that runs in families, it is caused by a flaw in a single
http://www.marchofdimes.com/professionals/681_9266.asp

Extractions: Fragile X syndrome is a genetic disorder that runs in families. It is different from Down syndrome, another common genetic cause of mental retardation. Down syndrome is generally caused by an extra chromosome (chromosomes are the structures in cells that contain the genes), while fragile X syndrome is caused by an abnormality in a single gene. In 1991, a March of Dimes-supported researcher discovered that fragile X syndrome is caused by a mutation (change) in a gene (called FMR-1) located on the X chromosome. Each person has 23 pairs of chromosomes, or 46 individual chromosomes. One pair, referred to as the sex chromosomes (called X and Y), determines whether a person is male or female. Normally, females have two X chromosomes, and males have one X chromosome and one Y chromosome. A female who inherits one X chromosome with the abnormal FMR-1 gene has, in effect, a spare X with the normal gene. A female, therefore, tends to be less often affected by fragile X syndrome than a male and, if affected, less severely than a male. Males have one X chromosome containing only the abnormal gene, so they are generally more severely affected.
Index
The Fragile X Society. At the moment our Home Page is still under construction. In the meantime here is information about fragile x syndrome and The Fragile
http://www.fragilex.org.uk/

Extractions: Welcome to The Fragile X Society At the moment our Home Page is still under construction. In the meantime here is information about Fragile X Syndrome and The Fragile X Society. Fragile X Syndrome What causes Fragile X ? Fragile X Families The Fragile X Society For more information please contact Email info@fragilex.org.uk Write to: The Fragile X Society, Rood End House, 6 Stortford Road, Great Dunmow, Essex, CM6 1DA Telephone: The Fragile X Society is a UK registered charity number 1003981.
Facts About Fragile X Syndrome
Information on fragile x syndrome including diagnosis, treatment, research, language and parent resources.
http://www.childdevelopmentinfo.com/disorders/facts_about_fragile_x_syndrome.htm

Extractions: Facts About Fragile X Syndrome Fragile X syndrome is the most common genetically-inherited form of mental retardation currently known. In addition to intellectual disability, some individuals with Fragile X display common physical traits and characteristic facial features, such as prominent ears. Children with Fragile X often appear normal in infancy but develop typical physical characteristics during their lifetime. Mental impairment may range from mild learning disability and hyperactivity to severe mental retardation and autism. This genetic syndrome is caused by a defect on the X chromosome. Because of scientific advances, improvements in genetic testing, and increased awareness, the number of children diagnosed with Fragile X has increased significantly over the last decade. Inheritance Testing for Fragile X Carrier A simple test is now available that can determine if a woman is carrier of the Fragile X gene. A drop of blood can be taken from the woman's finger and analyzed quickly and inexpensively. If a woman who is found to be a carrier is pregnant, she can arrange for testing of the fetus, as described below. For a woman with a family history of retardation, testing before pregnancy will help determine if she is at risk.

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