Two grants launch new collaboration for KU disabilities researchers

An electronic image of the Fragile X chromosome is available via e-mail. Contact kunews@ku.edu

LAWRENCE -- Researchers at the University of Kansas Life Span Institute will embark on a new area of research with the University of North Carolina at Chapel Hill to study Fragile X syndrome, the most common inheritable form of mental retardation.

Steven F. Warren, Life Span Institute director, will lead the projects at KU that signal a new collaboration with the North Carolina university renowned for Fragile X research.

KU will join North Carolina as its research partner in a five-year, $6 million National Institute of Child Health and Human Development grant that establishes a designated national Fragile X research center focusing on how families adapt to having a child with Fragile X syndrome, or FXS.

Warren, along with KU Associate Research Professor Nancy Brady, has shown how crucial parenting style is to children's language development -- particularly for children with developmental disabilities.

As one example, the two researchers will study 20 families to determine if and how children with FXS are parented in comparison to their siblings and how this affects their later development.

"Children with FXS can be more irritable, hyperactive and impulsive compared to typically developing children," Warren explained. "Even parents who are warm and responsive find these behaviors challenging."

But Warren and Brady also believe that parents can change their parenting style to help their children develop critical language and reasoning skills. They will test this hypothesis by developing optimal parenting skills in those parents in the study who show less responsiveness to their children.

The second collaborative project, which includes the University of California at Davis, is a three-year NICHD grant to plan a multistate screening of one million newborns for FXS.

Although it is the most common inherited form of mental retardation, no one knows exactly how common. Finding out the true prevalence of the single-gene disorder is the first order of business.

FXS affects a single gene on what is termed a "fragile site" on the X chromosome and occurs in both males and females, but in males more frequently and severely.

Children with FXS, unlike those with Down syndrome, do not have obvious identifying physical features as infants. As children with FXS get older, doctors may confuse their developmental or behavioral symptoms with other disorders until genetic tests are performed. Most children are not diagnosed until they are at least 2 years of age.

This means that little is known about the early development of children with FXS, children miss out on early treatment and therapies, and families may have more than one child with FXS without knowing that they are at risk.

According to Warren, the researchers who are planning the FXS universal screening are pioneering new directions in health policy

"Currently, only disorders that can be treated are routinely screened for," he said, "but the rapid advances in genetics are pushing us as a society to consider the ethical, legal and technical implications of knowing more about our individual genomes as early as possible."