Our Work

Over the past two decades, scientists have made advancements in understanding the genetics of fragile X syndrome (FXS). However, we are just beginning to understand how this complex condition affects individuals and their families.

Some parents spend years taking their child to different doctors before getting a diagnosis of FXS. Others struggle with the behavioral and communication challenges that come with FXS. These are just two examples of the broad impact of FXS. The more we know, the better we can design services and care that will improve lives.

The Centers for Disease Control and Prevention (CDC) partners with physicians and university researchers to better understand FXS.

Building Evidence Through Public Health Research

CDC funds the collection of data for public health use from people receiving care at FXS specialty clinics across the United States. Examples of these data include age at diagnosis, the age when a child reaches milestones like walking and toilet training, level of intellectual ability, care and services received by each person, and each person’s access to preventive services. CDC scientists and research partners can use this information to

• Describe the symptoms and challenges of FXS across the lifespan; and
• Identify the care and services provided to people with FXS and measure how well that care is working for them.

Using Data to Address the Impact of FXS on People and Their Families

CDC scientists and research partners are using existing data to report on the reasons why people with FXS go to the emergency room, and to report on school services used by individuals with FXS. School services research includes

• Determining how many school-aged children with FXS are receiving instruction in a regular classroom setting;
• How many school-aged children with FXS are assisted by a personal aide at school; and
• How many school-aged children with FXS are receiving occupational therapy, speech therapy, and/or physical therapy.

Collaborating with Partners

CDC is collaborating with the American Academy of Pediatrics to develop and distribute educational materials to healthcare professionals and families. These materials are designed to raise awareness of FXS and encourage early diagnosis so that people with FXS can receive appropriate care and services.

Questions?

If you have questions about FXS, please e-mail us at: cdcinfo@cdc.gov.