Fragile X Syndrome

Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development, Fragile X Mental Retardation 1 (FMR1) gene.  But when there is a change in this gene, the body makes only a little bit or none of the protein, which can cause the symptoms of Fragile X.

 

Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.

 

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include

—  Intelligence problems, ranging from learning disabilities to severe mental retardation

—  Social and emotional problems, such as aggression in boys or shyness in girls

—  Speech and language problems, especially in boys

 

 

 

Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines.

 

Males and females with fragile X syndrome may have anxiety and hyperactive behavior such as fidgeting, excessive physical movements, or impulsive actions. They may also have attention deficit disorder, which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of males with fragile X syndrome also have autism or autistic-like behavior that affects communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.

 

 

Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.

 

Websites:

 

Fragile X Syndrome

http://www.asha.org/Publications/leader/2003/031021/f031021b.htm

 

Fragile X Syndrome

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/