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There are many ways you can help children and their families get the care they need.
Learn more about our ranking as the top pediatric hospital here.
The first step in treating your child is forming an accurate diagnosis. Fragile X may be challenging to diagnose, or may be diagnosed later in life, because many people—even doctors—aren’t familiar with it.
Girls, in particular, may go undiagnosed because people still think they can’t have fragile X, and/or because their symptoms may be extremely mild.
To diagnose your child, blood is taken and analyzed for the fragile X gene. Then we will meet with you and your family to discuss the results and outline the best treatment options.
The current recommendation is that any boy with intellectual delay should be tested for the fragile X gene. There isn’t a similar recommendation for girls, although specialists familiar with fragile X would likely test girls who show learning disabilities coupled with mood or behavior disorders, such as anxiety and attention-deficit hyperactivity disorder (ADHD).
Boys with fragile X are usually diagnosed within the first three years of life. Problems often start to become obvious in second year, when they’re delayed in speech development and social interactions may start to go awry.
Since girls have fewer symptoms, they tend to be diagnosed much later, often in their early teens. The diagnosis is usually made by a pediatrician, neurologist, geneticist, or developmental specialist.
The fragile X gene can be detected during pregnancy, but even if the test shows the full mutation, it’s impossible to know what any symptoms your child will have (or even if she or he will have any at all).
Prenatal diagnosis can be done through:
Chorionic villus sampling (CVS)
Amniocentesis (a test of the amniotic fluid)
You should be tested if you know that you are a carrier of the fragile X gene or if there is a history of fragile X in your family. If you are not a carrier, but are concerned about fragile X, talk with your genetic counselor.
After your child is diagnosed with fragile X, contact a fragile X program. To talk to us at Children’s Hospital Boston, call our Fragile X Program at 617-355-4697, and we will arrange a time to meet with you and your child.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”