Fragile X syndrome is an inherited disorder. It can cause hyperactivity, learning problems, and emotional problems. It can also cause intellectual disability, which used to be called mental retardation. Fragile X is a common known cause of autism. Some children with fragile X have normal IQs. Fragile X affects both males and females.
More than 100 trillion cells make up the human body. Inside each cell are genes. Genes contain the information used by other parts of the cell to make proteins, the body's building blocks. Each protein does a specific job.
If the information in a gene is changed, the cell may not be able to make that protein. Or it may not be able to make a form of the protein that the body can use. Fragile X occurs because a gene called FMR1 cannot make normal amounts of a protein called FMRP.
A person with nearly normal levels of FMRP usually has mild or no symptoms, while a person with very little or no normal FMRP has more severe symptoms. Usually boys are affected more severely than girls.
A special type of blood test can be done to confirm whether your child has fragile X syndrome. The test can also show how severe the disorder is.
Pregnant mothers can have tests to check for fragile X. This can be done with chorionic villus sampling, or CVS, in which a small sample of the placenta is drawn into a needle or a small tube for analysis. A pregnant woman can also have amniocentesis, in which a needle is inserted into the mother's belly to draw a sample of amniotic fluid. Another test that can be done is umbilical blood sampling.
Boys affected by fragile X syndrome often have large ears, a large head, a broad forehead, extra flexible finger joints, a high palate, soft skin, and flat feet. During puberty, boys usually develop large testicles and a longer face than most people. Most children with fragile X syndrome look normal.
Girls may also have large ears, flexible finger joints, and flat feet.
In general, children with fragile X syndrome do not have a lot of medical problems. The health problems they may have include:
The major problems with fragile X syndrome include:
About 20% to 35% of children with fragile X have autism.
Children with fragile X syndrome also have many strengths, such as:
There is no cure for fragile X syndrome, but new medicines are being tested. There are several other medicines and therapies that may help.
If your child is diagnosed in infancy, your provider will discuss infant stimulation programs. Special preschool programs are helpful for children under 5 years of age.
Speech, language, occupational, and physical therapy are very important to help your child develop motor skills and language. Sensory integration therapy can be helpful for behavioral problems. The therapist will teach techniques such as deep pressure back rubs and joint compression. These techniques may help to calm behavior outbursts or tantrums at home.
Your provider or psychologist can help you set up a behavior program at home.
Your child should have an Individualized Educational Plan (IEP) developed by his teachers, therapists and you. His school program should include both time in the regular classroom and individual help from a special education teacher. Getting a tutor can also help. Speech and language therapy, occupational therapy, and computer use may also help your child learn. Your school and healthcare provider can help you arrange these services and the proper kinds of therapy when needed.
Most children with Fragile X do not have serious medical problems. Your provider will treat ear infections, heart conditions, seizures, or other problems as needed.
Your provider may prescribe medicines that can improve behavioral or emotional symptoms. Medicine may be used with other kinds of treatment. Such medicines are used for a trial period and are continued only if they help. If your child has a side effect from the medicine, call your provider.
When parents hear for the first time that their child has fragile X, they can feel grief, anger, guilt, and many other emotions. Children with fragile X syndrome are not easy to raise, and parents need to have personal time and recovery time. Talk with your provider. He or she can help you. You can learn what help is available from:
The National Fragile X Foundation
Web site: http://www.fragilex.org