CDC and AAP Bust Fragile X Myths
CDC and the American Academy of Pediatrics join forces to debunk common myths about fragile X syndrome.
There's no reason for a FXS diagnosis if there's no cure.
Having a diagnosis can help you find behavioral treatments[156 KB],medications[173 KB], 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.
For pediatricians, a diagnosis allows them to screen for and treat medical and behavioral symptoms that can occur in children with fragile X syndrome (FXS).
Addressing misperceptions about FXS is the focus of the new FXS Myth Buster handouts[139 KB] recently published in AAP News, the monthly magazine of the American Academy of Pediatrics (AAP). One version of the FXS Myth Buster handout has myths and facts written for pediatricians, and a second version has these same myths and facts written for pediatricians to give to their patients' families.
This collaboration between CDC's Division of Human Development and Disability (DHDD) and AAP illustrates how DHDD is developing the tools that healthcare professionals and families need right now to better recognize and understand FXS.
The Public Health Need
Children with FXS who have not been diagnosed may show signs of intellectual or developmental disability[272 KB]. 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.
DHDD 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. DHDD then worked with AAP to learn what pediatricians felt they needed to address these two areas.
CDC and AAP developed two projects to address increasing awareness among pediatricians: the FXS Myth Buster handouts and a Quality Improvement project. Through this work, CDC's collaboration with AAP is creating tools to help pediatricians decrease the length of time from suspectingdevelopmental delay to getting the correct genetic test and determining the diagnosis of FXS.
What You Can Do
- Policy makers: Help raise awareness of this complex condition by sharing the FXS Myth Buster handouts with healthcare professionals and parents.
- Pediatricians: FXS may not be what you think it is. Consider reviewing AAP's clinical guidance which calls for genetic testing and evaluation of all children with global developmental delays or intellectual disability of unknown origin.
- Parents: If you're concerned about your child's development, talk to your child's doctor. The sooner a child is diagnosed with FXS, the sooner he or she can start receiving the care and services they need.
- FXS Myth Buster handout for pediatricians[139 KB]
- FXS Myth Buster handout for parents[147 KB]
- Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays (AAP guidance document)
- CDC's FXS homepage
- Overview of CDC's work on FXS[772 KB]