Fragile X Syndrome
Sorry no news is found ... Your search criteria may have been too narrow. You can quickly re-sort the news in different ways by clicking on the tabs at the top of this page.
Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known single-gene cause of autism and the most common inherited cause of intellectual disability. It results in a spectrum of intellectual disability ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and larger testes (macroorchidism), behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome). A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counselling.
There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and aggression. Supportive management is important in optimising functioning in individuals with fragile X syndrome, and may involve speech therapy, occupational therapy, and individualised educational and behavioural programs.
J. Purdon Martin and Julia Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Herbert Lubs first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
Latest Spotlight News
Motion quotient: IQ predicted by ability to filter motion (w/ video)
A brief visual task can predict IQ, according to a new study. This surprisingly simple exercise measures the brain's unconscious ability to filter out visual movement. The study shows that individuals whose ...
Defective cellular waste removal explains why Gaucher patients often develop Parkinson's disease
Gaucher disease causes debilitating and sometimes fatal neurodegeneration in early childhood. Recent studies have uncovered a link between the mutations responsible for Gaucher disease and an increased risk ...
Protein preps cells to survive stress of cancer growth and chemotherapy
Scientists have uncovered a survival mechanism that occurs in breast cells that have just turned premalignant-cells on the cusp between normalcy and cancers-which may lead to new methods of stopping tumors.
The secret lives, and deaths, of neurons
As the human body fine-tunes its neurological wiring, nerve cells often must fix a faulty connection by amputating an axon—the "business end" of the neuron that sends electrical impulses to tissues or other ...
Regenerating spinal cord fibers may be treatment for stroke-related disabilities
A study by researchers at Henry Ford Hospital found "substantial evidence" that a regenerative process involving damaged nerve fibers in the spinal cord could hold the key to better functional recovery by most stroke victims.
Researchers suggest boosting body's natural flu killers
A known difficulty in fighting influenza (flu) is the ability of the flu viruses to mutate and thus evade various medications that were previously found to be effective. Researchers at the Hebrew University of Jerusalem have ...
Pay attention: How we focus and concentrate
Scientists at Newcastle University have shed new light on how the brain tunes in to relevant information.
New discovery in fight against deadly meningococcal disease
Professor Michael Jennings, Deputy Director of the Institute for Glycomics at Griffith University, was part of an international team that discovered the previously unknown pathway of how the bacterium colonizes people.
Are kids who take music lessons different from other kids?
(Medical Xpress)—Research by U of T Mississauga psychology professor Glenn Schellenberg reveals that two key personality traits – openness-to-experience and conscientiousness—predict better than IQ ...
Study reveals active site of enzyme linked to stuttering
(Medical Xpress)—Scientists from the Joint Center for Structural Genomics (JCSG) at SLAC National Accelerator Laboratory have determined the 3-D structure of the chemically active part of an enzyme involved ...
