Fragile X syndrome is a genetic disorder that causes problems with the way the brain and body develop. It can cause hyperactivity, emotional problems, and severe learning problems.
Inside each cell of your body are genes. Genes contain the information that tells your body how to develop and work. Changes in the genes can be passed from parents to children.
Fragile X is caused by a problem in a gene that prevents the body from making normal amounts of a protein called FMRP. The less of this protein your child has, the more severe symptoms will be.
Fragile X affects both males and females. Usually boys are affected more severely than girls.
There are many symptoms, but not all children with fragile X will have all of these symptoms. They may have some symptoms that are not on this list.
Most infants with fragile X syndrome look normal. As children get older, they often have:
During puberty, boys usually develop large testicles.
Children with fragile X syndrome may have:
Children with mild learning problems may:
Children with severe learning problems may:
The major problems with fragile X syndrome include:
Most boys, and some girls with fragile X have some symptoms of autism, a disorder in which a child has problems with communicating and getting along with others.
Pregnant mothers can have tests to check for fragile X. The diagnosis before birth may be based on:
After your baby is born, a special type of blood test can be done to confirm that your child has fragile X syndrome. The test can also show how severe the disorder is.
There is no one best treatment for all children with fragile X. Before you decide on your child's treatment, find out what your options are. Learn as much as you can and make your choice for your child's treatment based on your child's needs. There is no cure for fragile X syndrome.
Usually children are placed in public schools and the school district provides all needed services. These will include working with a speech therapist, occupational therapist, school psychologist, social worker, school nurse, or aide. You may want to visit public schools in your area to see the type of program they offer to special needs children.
A team of professionals will help evaluate your child and put a plan together. You may also ask your healthcare provider to review the plan. Ask and find out all the services that may be available for your child.
Speech, language, occupational, and physical therapy are very important to help your child. A cognitive behavioral therapist can help your child learn to manage stress. Other therapies may include art therapy, music therapy, or sensory integration, which helps reduce your child's sensitivity to touch or sound. Treatment will also include doing activities at home.
Your provider will treat ear infections, heart conditions, seizures, or other problems as needed. Medicine may be used to treat anxiety or behavioral problems. These medicines must be prescribed by a doctor experienced with their use in children with this disorder.
Parents often learn of new or alternative treatments through friends or the media. No diet or dietary supplement has been proven to treat autistic spectrum disorders. Your provider can help you decide if alternative treatments could help or harm your child.