Medical Problems in FXS
Are medical problems more common in individuals with Fragile X syndrome (FXS) than in typically-developing children? To help answer that question and guide pediatricians in caring for individuals with FXS, clinicians from the Fragile X Clinical and Research Consortium (FXCRC) working with Dr. Sharon Kidd, the FXCRC National Coordinator, set out to determine the most common medical problems found in individuals with FXS.

Common FXS Medical Problems and Their Prevalence

Medical Problems Charts-02The table shows the frequency or prevalence of common medical problems found in individuals with FXS that are of particular interest to families and clinicians.

How Did We Get These Results?

Using data from the first phase of a project funded by the Centers for Disease Control and Prevention (CDC), we analyzed information from FXS patients collected by clinicians working at FXCRC clinics between 2005 and 2011. This data was collected at one time only for each patient. We also examined prior studies to capture a complete review of the literature.

A full report of the findings can be read in the October 6 edition of the journal Pediatrics. {{1}}

Some Medical Problems Are Not Increased in FXS

There were some medical problems that were believed to be a concern for people with FXS. However, the data from prior literature and the FXCRC Database did not support any increase in the problems seen in patients with FXS.

For example, mitral valve prolapse and tics were not found to be more frequent than in typically-developing individuals. Although low birth weight and prematurity were not examined in previous studies, the FXCRC data suggests the frequency of these birth problems are not different from typically-developing infants.

Guidelines for Medical Problem Management & Follow-Up

Here is a summary of recommendations to address common diagnosis and follow-up of medical problems found in individuals with FXS. A complete list of recommendations to address diagnosis and follow-up, authored by the FXCRC clinicians in this study, can be found in the journal Pediatrics.

Management and Follow-Up Chart-01

Purpose of the Study

One of the goals of this Pediatrics paper was to support pediatricians in their treatment of individuals with FXS. This was accomplished by updating the evidence for the medical problems associated with FXS and providing evidence for the recently published AAP guidelines for health supervision of children with FXS. {{2}}

Additional research questions are being considered based on the data collected in the 2nd phase of the CDC-funded project – the  – a large and comprehensive study that follows children living with FXS forward in time through adulthood. Examples of questions being considered are: What is the relationship between behavioral symptoms and language? What are barriers to social participation and daily living activities? And, what is the severity of behavioral problems?

We look forward to bringing you more information and results from the FORWARD Registry and Database.


Sharon Kidd, MPH, PhDSharon Kidd, MPH, PhD
Sharon obtained both her Master of Public Health in epidemiology/biostatistics and her PhD in epidemiology from UC Berkeley. She is a perinatal and pediatric epidemiologist studying the patterns of health problems during pregnancy and childhood. Sharon completed her dissertation in May 2010 on sleep and cortisol in preschool-aged children with autism compared to typically-developing children. She has authored and coauthored numerous publications, taught epidemiology courses, and reviewed manuscripts for peer-reviewed journals. Sharon has been with the NFXF since November 2011, where she can continue her work on promising research on children and young adults with developmental disabilities. Her major project at the NFXF is coordinating the data collection efforts of the FXCRC clinics nationwide. Sharon enjoys travel, cable TV, and the triumphs and tragedies of her daughter’s high school exploits.

  • Ave Lachiewicz, MD – Departments of Pediatrics, Psychiatry, and Behavioral Sciences; Duke University Medical Center, Durham, NC
  • Deborah Barbouth, MD – Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
  • Robin K. Blitz, MD – Developmental Pediatrics, Barrow Neurological Institute at Phoenix Children’s Hospital and Department of Pediatrics, University of Arizona College of Medicine, Phoenix, AZ
  • Carol Delahunty, MD – Department of Developmental and Rehabilitation Pediatrics, Cleveland Clinic, Cleveland, OH
  • Dianne McBrien, MD – Department of Pediatrics, University of Iowa Medical Center, Iowa City, IA
  • Jeannie Visootsak, MD – Departments of Human Genetics and Pediatrics, Emory University, Atlanta, GA
  • Elizabeth Berry-Kravis, MD, PhD – Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL

[[1]]Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E. Fragile X Syndrome: A Review of Associated Medical Problems. Pediatrics. 2014 Oct 6. pii: peds.2013-4301. [Epub ahead of print] Review.[[1]]
[[2]]Hersh JH, Saul RA. Health supervision for children with Fragile X syndrome. Pediatrics. May 2011;127(5):994-1006.[[2]]