Despite efforts to improve how early we can tell if a child has fragile X syndrome (FXS), the average age of diagnosis hasn't changed. Screening children at birth may be the best way to find FXS as soon as possible. Researchers have already tested out optional expanded newborn screening for FXS in a few hospitals. Now, a new program in North Carolina plans to expand this optional screening to the entire state.

What Is the Issue?

Over the past ten years, the fragile X community has made a huge push to raise awareness of fragile X syndrome (FXS) among children's doctors. In spite of this effort, families are still waiting a long time to figure out if their child has FXS. Boys don't usually get a diagnosis until age 3 or older. This delay may be because the signs of FXS vary and are similar to other conditions.

What Does This Mean for Families?

During this time, the family goes through the stress and cost of many doctor visits. They might even have another child with FXS. Finding out early that a child has FXS could help families avoid this “diagnostic odyssey” and could help inform their family planning decisions.

An expanded newborn screening method may be the best way to check all children for FXS as early as possible. This method uses a blood test to look for variations on the FXS gene at birth instead of waiting for symptoms to occur.

Each state already does newborn screening for other serious health conditions. However, unlike these other conditions, FXS does not have a proven treatment that a child must have right away.

What Are Researchers Doing to Help?

A program led by the Our Fragile X World team, called Early Check, will help find children with FXS and other rare health conditions. A group of North Carolina-based universities, non-profits, and government partners are working together on the program. Early Check will offer a free, optional FXS test for all babies born in the state, about 120,000 children per year. The program will also study the potential benefits of early treatment.

What Has the Research Team Learned?

Early Check will build on a prior study of newborn screening for FXS. In 2008, our research team, along with teams in 3 different states, offered the test to over 28,000 families at several hospitals. We learned that many families are interested in newborn screening for FXS. But there were some challenges as well.

What kinds of lessons can we learn from this and apply to Early Check when the program goes "live" in 2018? Let's look at three lessons we learned from our prior study and what they will mean for Early Check.

1. In the earlier study, a project team member met with each parent shortly after birth. Although many parents agreed to talk with us about the study, it was hard to talk to each family individually. We had brochures to help parents decide about screening, but most parents didn't read them.

   Given there are over 120 hospitals in North Carolina, this approach isn't possible. The challenge for Early Check will be to come up with ways to give parents a chance to learn about the test both before and after birth.

2. We learned in our prior study that most parents agreed to have their child tested. They wanted to know more about their child or didn't see many risks to the test. However, about 1 in 3 parents didn't agree to the test because they didn't want to worry about their child, had concerns with testing newborns, or preferred to "wait and see" for symptoms.

   Both viewpoints are valid and reasonable. Early Check will need to describe the risks and benefits of being part of the study. This method will support parents in making the choice that's best for their family.

3. In the past study, of the parents that were in an ongoing study after the test, mothers of babies with FXS didn't say they had more worry or stress than mothers of babies without FXS. However, not all families wanted to do follow-up testing or be in an ongoing study of their child, so we need to assess the long-term impact with more families.

   This suggests that for Early Check, it's possible to offer the screening in a way that will not harm families. However, Early Check will need to continue to monitor outcomes in a larger group of families.

The stage is set for more research to find the benefits and risks of earlier detection of FXS for children and families.

This blog post is based on the open-access research article, “Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.” The article was in the June 2017 Pediatrics supplement on fragile X. To learn more about Early Check, please visit the project web site.

Get Involved

If your family is affected by fragile X, please consider signing up for our research registry, where you can hear about upcoming studies and learn how you can take part.