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What children's doctors need to know to support families affected by fragile X: Part 1

Doctor examining little boy

Putting research findings into the hands of healthcare providers and other professionals is critical to providing better, more timely care to individuals with fragile X (FX). To aid in this effort, the medical journal Pediatrics published a special issue on FX in June. Over our next two posts, we'll look at the contributions of Our Fragile X World (OFXW) researchers to this issue. Today, we'll look at what this information means for doctors who treat children with fragile X syndrome (FXS).

What Children's Doctors Need to Know about Fragile X Syndrome

Pediatricians and other healthcare providers play a key role in caring for children with FXS. They can test a child for FXS, order medicines, suggest care options, and make referrals. By giving children's doctors a better understanding of FXS, we hope that they can detect and treat FXS sooner.

Public Health Literature Review of Fragile X Syndrome

In this article, Drs. Melissa Raspa and Anne Wheeler of OFXW, along with Dr. Catharine Riley of the CDC, reviewed the latest research about children with FXS. They described what we know about the developmental, social, emotional, and medical needs of people with FXS. Next, they went over what we know about treatment and the family impact of FXS, and suggested what children's doctors can and should be doing to support families. They called out five key gaps where we need more research:

1.  Are there sub-groups within FXS?
We know there are differences between individuals with FXS only and those who have both FXS and autism spectrum disorder (ASD). Because the traits of people with both FXS and ASD tend to fit a certain profile, we call this a sub-group within FXS. However, we know little about other subgroups within FXS. Do other conditions that are common in FXS also form sub-groups? Are there similar biological features in these sub-groups? By answering these questions, we could know more about the overall set of traits we see in FXS.

2.  What are the needs of young adults, middle-aged adults, and seniors living with FXS?
Most FXS research has been done with children and teens. However, we know less about FXS across the lifespan. We lack studies of young adults, middle-aged adults, and seniors. We need to learn more about issues like:

  • transitioning out of school,
  • job opportunities,
  • daily living and functional skills,
  • stress on families who care for adult children living at home,
  • guardianship (appointing another person to make decisions on behalf of an adult with FXS), and
  • health and social needs of adults with FXS.

3.  What are the health needs of the FXS community as a whole?
We know a lot about the physical features and medical problems linked with FXS. However, we have done little research on the health needs of the FXS community as a whole, on topics such as:

  • access to services to prevent illness,
  • how well people with FXS understand health information, and
  • how people with FXS make health care decisions.

4.  What education services, behavior interventions, and medicines work the best?
We don't have enough facts about types of treatments and how well they work. More research would help us learn which treatments work for which individuals with FXS. For example, we know little about how well some medications work. With educational services, we need to know more about issues like:

  • what type of programs people use,
  • which services are offered the most,
  • how intensive services are,
  • special education eligibility, and
  • how well services work for preschool and school-age children with FXS.

5.  What family factors help individuals affected by FXS? What family factors can lead to challenges?
Although several studies have looked at the needs of mothers with the premutation, few studies have looked at why some families have more challenges and others have fewer. Factors that could affect family functioning include things like the number of FX-affected family members or family closeness. We need more studies to know how these factors affect the development or social skills of people with FXS or how well interventions for families might help.

To come up with these findings, the research team looked at over 200 recent research articles on the full mutation (FXS). To learn more, see the full article in Pediatrics.

Other topics that our research team wrote about for the special issue include the premutation and FX newborn screening. Be sure to check our blog later this week, when we'll recap research on the premutation in Part 2 of our series on the Pediatrics special issue on FX.

Share Your Story

What do you think is important for children's doctors to understand about fragile X syndrome? How has your child's doctor helped support you and your family? Please consider sharing your story with us. We hope to hear from you!

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.