At a glance
"Myths" vs "Facts"
Addressing misunderstandings about FXS is the focus of the FXS Myth Buster information handouts published by the American Academy of Pediatrics (AAP). These materials are the result of a collaboration between CDC and AAP as part of an effort to develop tools that healthcare professionals and families need to better recognize and understand FXS.
Uncover myth-busting facts on FXS for healthcare providers and families to learn and share:
There's no reason for an FXS diagnosis if there's no cure.
Having a diagnosis can help you find behavioral treatments, medications, and educational services which may help your child. A diagnosis can also help you connect with support groups of other families in the same situation.
A diagnosis allows pediatricians to screen for and treat medical and behavioral symptoms that can occur in children with FXS.
Individuals with FXS may have certain physical features like prominent ears, a long, narrow face, and large testes after puberty, but many children do not have any characteristic features. While some physical features may be seen in younger boys, most do not become evident until puberty, and girls do not have an unusual appearance.
Both girls and boys can have FXS. Symptoms are usually more severe in boys, but both boys and girls can exhibit symptoms ranging from normal functioning to severe intellectual disability.
FXS requires a special blood test that is not usually included in the genetic tests that a pregnant woman gets or in the tests done right after a baby is born. The only way to diagnose FXS is with a special blood test called the “FMR1 DNA Test for Fragile X.”
More FXS Facts for Families and Healthcare Providers
The public health need
Children with FXS who have not been diagnosed may show signs of intellectual or developmental disability. Their families often visit many doctors before receiving the genetic testing needed to diagnose FXS. This delay can create emotional stress and become a financial burden for families. The sooner children are diagnosed with FXS, the sooner they can benefit from care and services. Since FXS is an inherited condition, a child's diagnosis may lead to a diagnosis in other family members who could also benefit from care and services.
What CDC is doing
CDC has met with parents of children with FXS, healthcare professionals, researchers, and representatives from FXS patient organizations. Meeting participants identified two areas that need improvement: awareness of FXS among healthcare providers and improving early and accurate diagnosis. CDC then worked with AAP to learn what pediatricians felt they needed to address these two areas.
CDC and AAP developed materials to address increasing awareness of FXS among pediatricians:
Through this work, CDC's collaboration with AAP created tools to help pediatricians decrease the length of time from suspecting developmental delay to getting the correct genetic test and determining the diagnosis of FXS.