CDC and AAP Bust Fragile X Myths

CDC and the American Academy of Pediatrics join forces to debunk common myths about fragile X syndrome.

Myth

There's no reason for a FXS diagnosis if there's no cure.

Fact

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).

Button: Fragile X Myth Busters - Uncover the Facts

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.

View CDC’s interactive Myth Busters quiz.

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.

Our Work

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.

Illustration of large family with doctor

Fragile X is an inherited condition.

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.

Resources

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]

About Fragile X Syndrome

Fragile X syndrome is an inherited condition, which means it can run in families. FXS is caused by a change in the genetic or inherited material found in every cell of the body. This change in genetic material makes it hard for cells to produce a protein that is necessary for normal brain development and brain function. A shortage of this protein often leads to intellectual disability[272 KB] and behavioral challenges. People with FXS may experience a range of behavioral and health challenges. These can include anxiety, depression, autism, and difficulty with sensory issues, such as receiving and responding to what a person sees, hears, smells, tastes, and touches. Ear infections, difficulty sleeping, seizures, and stomach or intestinal problems may also occur.

FXS is the most common known inherited cause of intellectual disability. Both males and females can have FXS. Males with FXS usually have some level of intellectual disability, ranging from mild to severe. Females can have a range of symptoms from normal intellectual ability to moderate intellectual disability. The exact number of people who have FXS is not known, but it is estimated that about 1 in 5,000 males and about 1 in 6,000 to 1 in 8,000 females have FXS.