A new supplement in Pediatrics, edited by researchers at RTI International and the U.S. Centers for Disease Control and Prevention, brings together leading research and lessons learned concerning fragile X syndrome.
Fragile X syndrome is the most common known genetic cause of intellectual disability and cognitive impairment, yet it is not typically diagnosed until age 3 or later.
“We synthesized the research in this supplement to help pediatricians inform their clinical practice as well as help shape public policy and the research agenda for fragile X going forward,” said the supplement’s co-editor Don Bailey, Ph.D., Distinguished Fellow and director of RTI’s Center for Newborn Screening, Ethics, and Disability Studies.
The supplement includes six research papers, four of which are authored by RTI researchers. The research topics include newborn screening, co-occurring conditions, implications for families, and risks associated with being a carrier of fragile X syndrome. The supplement also includes examples of ongoing efforts for coordination across clinical sites and discusses policy issues and research findings regarding fragile X.
“Over the past two decades, scientists have made significant advancements in a more precise diagnosis of fragile X syndrome,” Bailey said. “The challenge now is to move from accurate diagnosis to public health action, which requires a clear understanding of how this complex condition affects individuals and their families, and identifying interventions and treatments that can lead to better outcomes.”
RTI is national leader in fragile X syndrome, having conducted a number of studies for the CDC and Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Next year, RTI will conduct a large newborn screening for fragile X syndrome.