Archive for the 'Fragile X Syndrome' Category

 

Fragile X Syndrome and Air Travel Letter to airport, airline staff, and screeners

Friday, September 14th, 2007

To airline staff and airport security personnel:
This child, [CHILDS NAME], has a condition known as fragile X syndrome. This is a genetic condition. Children with fragile X syndrome can have difficulty learning and so, they may not understand all of your instructions. Additionally, they may be very anxious about meeting new people and have difficulty [...]

Information for Families Who Fly with Children with Fragile X Syndrome

Friday, September 14th, 2007

As you well know, some children with fragile X syndrome find taking a trip on an airplane to be challenging. In large part, it’s the unpredictability of air travel (e.g., flight delays, unexpected additional security checks) that is the biggest challenge. We have learned from our families some ways to reduce the unpredictability and make [...]

Fragile X Syndrome and School Behavior

Friday, September 14th, 2007

Fragile X syndrome may be underlying behavioral concerns in the classroom for undiagnosed students, especially in early childhood. Behaviors reflect obsessive-compulsive tendencies, hyperactivity, attention deficit, and autism.
Fragile X syndrome is the second most common chromosomal cause of mental retardation. The severity of cognitive, language and behavioral outcomes may be related to the actual number of [...]

Fragile X Syndrome Recommendations for Diagnostic Testing

Friday, September 14th, 2007

The purpose of these recommendations is to provide general guidelines to aid clinicians in making referrals for fragile X syndrome testing.
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 [...]

Neuronal pathology of Fragile X syndrome studied

Saturday, June 23rd, 2007

Fragile X syndrome is the most common form of inherited mental retardation, occurring in 1 in 3,600 males and 1 in 4,000 to 6,000 females.
The researchers, led by Huibert Mansvelder, published their findings in the May 24, 2007 issue of the journal Neuron, published by Cell Press.
To understand the details of the neuronal pathology of [...]

Fragile X, Down Syndromes Linked To Faulty Brain Communication

Saturday, June 23rd, 2007

The two most prevalent forms of genetic mental retardation, Fragile X and Down syndromes, may share a common cause, according to researchers at Stanford University School of Medicine. The problem, a crippled communication network in the brain, may also be associated with autism.Although the genetics of the disorders are very different, the end result for [...]

New Test May Allow Population Screening For Fragile X Syndrome

Saturday, June 23rd, 2007

A new automated test could enable population screening to identify carriers of the gene mutations causing fragile X syndrome (FXS), the most common inherited form of mental retardation, reports a study in the April issue of Genetics in Medicine, published by the American College of Medical Genetics and Lippincott Williams & Wilkins, a part of [...]

X-fragile syndrome and Autism

Saturday, June 23rd, 2007

In the 80s, a research group at the Leioa campus of the University of the Basque Country worked on dermatoglyphs, an analysis technique applied to autistic children. Dermatoglyphs, or handprints and footprints, are useful in the morphological analysis of the symmetry of the human body.That initial study of dermatoglyphs enabled the fluctuating asymmetry between the [...]

In Fragile X Syndrome, A Stimulating Environment Restores Neuronal Function In Mice

Saturday, June 23rd, 2007

Fragile X syndrome is the most common form of inherited mental retardation, occurring in 1 in 3600 males and 1 in 4000 to 6000 females.The researchers, led by Huibert Mansvelder, published their findings in the May 24, 2007 issue of the journal Neuron, published by Cell Press.To understand the details of the neuronal pathology of [...]

Crucial Progress In Understanding Fragile X Mental Retardation Protein

Wednesday, June 13th, 2007

Researchers in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine have identified a new regulatory target for the Fragile X mental retardation protein (FMRP), laying the groundwork for possible new treatments for Fragile X syndrome(FXS), the leading inherited form of mental retardation.
The findings, published in the early online edition [...]

Other names of fragile X syndrome

Wednesday, March 21st, 2007

FXS
fra(X) syndrome
??FRAXA Syndrome
Marker X syndrome
Martin-Bell Syndrome
X-linked mental retardation and macroorchidism

Fragile X Syndrome Symptoms

Wednesday, March 21st, 2007

Family history of Fragile X syndrome, especially a male relative
mental impairment, ranging from learning disabilities to mental retardation??
Large testicles (macro-orchidism) after puberty
attention deficit and hyperactivity
Large body size (long face, large ears, flat feet )
autistic behaviors
anxiety and unstable mood
Tendency to avoid eye contact
hyperextensible joints, especially fingers
Large forehead or ears with a prominent jaw

About the Fragile X Gene

Wednesday, March 21st, 2007

In 1991, scientists discovered the gene (called FMR1 for “Fragile X Mental Retardation – 1″) that causes fragile X. In people with Fragile X, a defect in FMR1 (a “full mutation”) shuts the gene down. Like a defective factory, FMR1 cannot manufacture the protein that it normally makes.Other individuals are carriers: they have a small [...]

How is Fragile X inherited?

Wednesday, March 21st, 2007

Each cell in the body contains forty-six (twenty-three pairs of) chromosomes. These chromosomes consist of genetic material (DNA) necessary for the production of proteins which lead to growth, development and physical and intellectual characteristics.The first twenty-two pairs of chromosomes are the same in males and females. The remaining two chromosomes, X and Y, determine whether [...]

What Causes Fragile X Syndrome

Wednesday, March 21st, 2007

Mutations in the FMR1??gene cause fragile X syndrome.FMR1 is a ??fragile area on the X chromosome.It repeats in the genetic code.Normally, this DNA segment is repeated from 5 to about 40 times.The more repeats, the more likely there is to be a problem.In people with fragile X syndrome, however, the CGG(the DNA segment) segment is [...]

Fragile X varieties

Wednesday, March 21st, 2007

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.) FXS is the most common known cause of autism or “autistic-like” behaviors. Symptoms also can include characteristic physical and behavioral features and delays in [...]

What is fragile X syndrome

Wednesday, March 21st, 2007

Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome. It causes a range of developmental problems including learning disabilities and mental retardation.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 [...]