Thursday, October 2, 2008

New clinic to explore broad effects of Fragile X within families

Fragile X is the most common known inherited cause of autism and developmental delays, but the genetic disorder can have much deeper and more subtle roots within a family. Lisa Craft, M.D., medical director of a new Fragile X clinic at the Monroe Carell Jr. Children’s Hospital at Vanderbilt, says she hopes to accomplish two goals — helping children reach their fullest potential, and educating families about how deeply the genetic disorder can reach into the extended family.

"We used to think Fragile X was rare, carried by women and affecting their sons. But in the mid-1990s when DNA testing became available, we had to rewrite the book," Craft said. "Now we know the gene affects boys and girls, and that there is a wide spectrum of severity. We also know it can affect adults and that both men and women can be carriers and pass the gene on to their children."

Research now shows men and women who had normal cognitive development as children can develop Fragile X-linked tremors and balance problems in older age. Women can experience early menopause and fertility problems as a result of a Fragile X-linked disorder called primary ovarian insufficiency (POI). Girls can also have the full syndrome, but can go undiagnosed because their normal copy of the X chromosome can cover for their Fragile X.

As a part of their work, the Fragile X Clinic will offer families genetic testing and counseling. Basic science research is also under way at Vanderbilt to find treatments for some of the effects of the disorder.

The Fragile X clinic is part of the Division of Developmental Medicine and Cognition. It is one of 14 clinics linked with National Fragile X Foundation's clinical and research consortium. The disorder is often accompanied by behavior, communication and sensory issues, heart problems, sleep disorders, hearing loss and seizures.

"The goal is to give these families tools to communicate with their children, and routines to reduce stress. It provides a much-needed roadmap and a way for the families to have a better understanding, because most people want to know 'why,'" Craft said.
Contact: Carole Bartoo or Laurie Holloway, 615-322-4747

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