lunes, 19 de diciembre de 2011

The Key to Autism? Fragile X Marks the Spot | Medical News and Health Information

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The Key to Autism? Fragile X Marks the Spot Medical News and Health Information

The Key to Autism? Fragile X Marks the Spot -- Research Summary

BACKGROUND: Fragile X happens when there is a change, or mutation, in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene.  A small part of the gene code is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem. The FMR1 gene makes a protein needed for your brain to grow properly. A defect in the gene makes your body produce too little of the protein, or none at all. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. Fragile X is inherited, but you can have fragile X syndrome even if your parents do not have it. Changes in the gene can become more serious when passed from parent to child. Some people may only have a small change in their FMR1 gene (called a premutation) and may not show any symptoms.  Others may have bigger changes in the gene, called a full mutation, that cause the symptoms of Fragile X Syndrome. (,

SYMPTOMS: Here are some common signs of Fragile X:

• Social and Emotional – Most children with Fragile X have some behavior challenges.  They may be afraid or anxious in new situations, have trouble paying attention or may be aggressive.
• Physical - Flat feet, flexible joints and low muscle tone, large body size, large forehead or ears with a prominent jaw, long face, soft skin
• Behavioral & Developmental - delay in crawling, walking, or twisting; hand clapping or biting; hyperactive or impulsive behavior; mental retardation; tendency to avoid eye contact
• Speech and Language –They may have trouble speaking clearly, stutter, or leave out parts of words. 
They may also have problems understanding the speaker’s tone of voice or body language.
• Sensory – Many children with Fragile X are bothered by bright light, loud noises, or the way something feels.  Some do not like to be touched, or have trouble making eye contact. (,

MIND & MINOCYCLINE: The UC Davis MIND Institute is conducting a clinical trial in patients aged 3.5-16 years with Fragile X Syndrome (FXS). It is a controlled trial of minocycline, an antibiotic commonly used in children for infection or for treatment of neurodegenerative disorders. Recent studies have shown that minocycline improved brain connections and learning tasks in Fragile X mice, when given after birth for one month. Also, a preliminary survey of more than 50 individuals with FXS, treated with this medication for an average of 3 months, has demonstrated improvements in language, attention and behavior in some. From this study, they hypothesize that minocycline will be helpful for language, behavior and/or cognition in patients with FXS. The aim of the trial is to assess behavior, perceptual and cognitive development in patients treated with minocycline or placebo, as well as the side effects of minocycline treatment. ( MORE

Robby Miller
The National Fragile X Foundation (NFXF)

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