Symptoms, causes and treatment for fragile X syndrome

Fragile X Syndrome - General Info

Fragile X syndrome is a genetic syndrome in which there is a defect on X hormone. It leads to a variety of physical and intellectual limitations. There are also behavioral and emotional changes. Fragile X syndrome is the second most frequent cause of mental retardation after Down syndrome. This syndrome was first identified by a geneticist Herbert Lubs in 1969. Fragile X syndrome is more severe in boys than in girls since boys only have one X chromosome while girls have two.

Causes of Fragile X Syndrome

This syndrome is caused by mutation in the FMR-1 gene which is located in the X chromosome. FMR-1 gene seems to be related to early development and its mutation causes developmental delays. X chromosome is one of two sexual chromosomes in humans. Men have one X chromosome while women have two. In case of gene mutation, there is certain structural change which causes a new characteristic or trait not originally found in the parent gene.

Symptoms of Fragile X Syndrome

The main characteristic of fragile X syndrome is mild to severe mental retardation. Apart from that people suffering from this genetic disorder also have typical physical features such as large ears, large testicles, large jaw and prominent forehead. Furthermore, they suffer from speech delays. Double - jointedness is one more characteristic of fragile X syndrome. The joints are also hyperextensible. There is general hypotonic and in some cases there are heart conditions (mitral prolapse). The face of people suffering from fragile X syndrome is long and narrow, their palate is arched and they may also have dental problems and strabismus. In small children there is evident postponed motor development, hyperactivity and behavioral problems. Children may be tow-walking and suffer from occasional seizures.

Children suffering from fragile X syndrome have poor sensory skills and they are not good at mathematics. On the other hand, their reading skill is good. If there are speech and language problems they are usually in a form of echolalia, perseveration, and poor language content and cluttering. And finally, children may be shy and socially withdrawn.

Treatment for Fragile X Syndrome

Since fragile X syndrome represents genetic disease there is no cure and the damage to the chromosome simply cannot be fixed. The only way to help these children is with speech, occupational and sensory integration training. They may also benefit from special education and behavioral modification programs. In some patients surgery may fix problem of heart valves. Apart from the previously mentioned medicamentous therapy is basically symptomatic and supportive. Folic acid, for example, has been confirmed to improve hyperactivity and attention deficits in pre-adolescent men suffering from fragile X syndrome.