According to the American College of Medical Genetics (2005), individuals for whom testing should be considered: Individuals of either sex with mental retardation, developmental delay, or autism, especially if they have (a) any physical or behavioral characteristics of fragile X syndrome, (b) a family history of fragile X syndrome, or (c) male or female relatives with undiagnosed mental retardation.

Fragile X syndrome is the most common form of inherited mental impairment. I unknowingly carried the gene and passed it on to my son. One of my biggest privileges has been to be able to work in a little information about Fragile X here and there. In Do You Want to Know a Secret?, a young man with Fragile X holds the key to the mystery...and subsequent books have been dedicated to people with Fragile X and their families with great hopes and fervent prayers for a cure.

I had never met anyone with Fragile X Syndrome when I wrote the first draft of the play. During the time we started rehearsing the play for the NVTA one-act festival I began corresponding with Kathy May and Mary Beth Busby, two local woman who are each the mother of a son with Fragile X Syndrome. I recently met Mary Beth's son, Jack, at a Special Olympics softball game.

Test for Fragile X Syndrome (FXS) to obtain a diagnosis or to rule it out. If you don't have what may be the correct diagnosis of FXS, then you will never be aware of improved treatments or the cure when it's found. Within our lifetime, quite possibly within the next 10-20 years, we believe there will be a cure. With a diagnosis of Fragile X Syndrome, there is hope. After all, they are just one gene away from a cure.

No. There is nothing you did before or during the pregnancy or after your child was born to cause fragile X syndrome. Fragile X syndrome is genetic which means it is caused by a change in a gene, in this case, the FMR1 gene. The change causes the gene not to work the way it should, leading to the problems seen in fragile X syndrome. Because fragile X syndrome is genetic, it can be passed on and you are at risk for having another child with fragile X syndrome.

Explaining how fragile X happens is not very easy simply because of the way it is inherited. To start, let's talk broadly about genes and chromosomes. Genes are the instructions that tell our bodies how to work and are made up of DNA. We inherit two copies of all of our genes: one copy from our mother and one copy from our father. The DNA is packed into larger structures called chromosomes, and each chromosome contains hundreds to thousands of genes.

For moms, yes, your siblings and also your cousins are at risk for having children with fragile X syndrome. For dads, it is possible but unlikely. Why is this the case? To begin with, the repetitive region in the FMR1 gene expands through generations. There is an intermediate expansion, called the fragile X premutation, that is about 60-200 repeats in length. Individuals with a repeat length of this size are called premutation carriers and do not have symptoms associated with fragile X syndrome.

I do not have a family member with Fragile X Syndrome. I was unfamiliar with Fragile X until I performed research in preparation for writing the play.

Girls can also have fragile X syndrome even though they have two "X" chromosomes. The reason is that they have a full expansion on one chromosome and a normal repeat section (in most cases) on the other chromosome. The copy with the full expansion is not making any FMR1 protein, while the other copy (the normal repeat section) is making protein. Although some protein is being made, it may not be enough, so we can see characteristics of fragile X syndrome.

Seizures occur in approximately 20% of individuals with fragile X syndrome and usually present early in childhood. The types of seizures generally seen in individuals with fragile X syndrome generally respond well to anti-seizure medication. The seizures tend to resolve by adolescence, but may continue into adulthood. If you believe your child is having seizures, an appointment with a neurologist should be scheduled as soon as possible.

Fragile X Syndrome is a very real thing. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism.For more information visit http://www.fraxa.org/

Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene. fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.

Connective tissue connects and supports other tissues and includes cartilage, blood, and bone. We're not entirely sure why individuals with fragile X syndrome have connective tissue problems. Many of these problems are minor, such as loose, flexible (or hyperextensible) joints. Flat feet are also common in children with fragile X syndrome. Joint hyperextensibility tends to improve with age. Most of the time, having loose, flexible joints does not cause a problem and requires no treatment.

The "atherogenic lipid triad" of low HDL, high triglycerides, and small, dense LDL-also known as the metabolic syndrome-is described in NCEP ATP III guidelines as a widespread and underdiagnosed health problem. It is crucial to understand that atherosclerosis begins developing in these patients, and they maysuffer coronary events, before their blood sugar starts to rise.

Hormones that get their start in a plant are rich in molecules that can easily be converted into hormones. Natural hormone therapy, bioidentical hormones -- functions exactly like those the body produces. The chemical structure matches that of the hormone it is intended to replace. The molecular structure of these hormones is indistinguishable from that of natural hormones produced in the body.

http://www.eyesight.org/All%5FAbout%5 FMD/Reports%5FIndex/Report%2DGene%5Fand%5FDry%5FMD /report%2Dgen Fragile X syndrome Fragile X syndrome is the single most common inherited cause of mental impairment. Current estimates of its prevalence vary, but some experts believe that fragile X affects at least 1 in 1000 males and females of all races and ethnic groups. Experts estimate that 1 in 259 females of the general population carries fragile X.

Syndrome X, also called Metabolic Syndrome or Insulin Resistance Syndrome, is a combination of insulin resistance or diabetes, dyslipidemia, hypertension, and central obesity.

No. To be diagnosed with Syndrome X, one must have insulin resistance, hypertension, obesity and dyslipidemia. It is possible to have PCOS without having all of these symptoms, and some women with PCOS may not appear to have any of them.

This is a common experience. If you have a positive test, please bring documentation of a negative chest x-ray done within the last year OR have one done at Children's. Also, please answer the questions on the health form.