Photo of Dr. Randi Hagerman of the UC Davis M.I.N.D. Institute
Randi Hagerman, a developmental and behavioral pediatrician, is leading the effort to expand genetic screening for fragile X syndrome — a single gene mutation that can have health outcomes for every generation in a family.

Many pediatricians know that fragile X syndrome is the leading cause of inherited mental impairment in children. But few gynecologists know that their infertile women patients may be carriers of the fragile X premutation. And even fewer psychiatrists treating patients for anxiety are also examining the family tree for evidence of fragile X.

Physicians and researchers — all experts in the genetic mutation that currently may affect over one million men, women and children in the United States — gathered at the UC Davis M.I.N.D. Institute on Sept. 25 to discuss the outcomes of nationwide focus groups on fragile X syndrome. They all agree: more medical professionals need to be aware of the full range of medical outcomes of fragile X. Those medical professionals also need to more frequently screen for the premutation and full mutation, ensure that families have the information they need to fully understand the syndrome and its potential outcomes and initiate interventions — including genetic counseling — as early as possible.

The focus groups were conducted as part of a project funded by the Centers for Disease Control and Prevention to define genetic testing protocols for fragile X syndrome in children and for related conditions in family members; for instance, primary ovarian insufficiency in women under age 40 and FXTAS, which can cause dementia in older adults. Fragile X is also associated with a variety of psychological, behavioral and learning disorders. Too often, these health issues are identified much later than they should be, when key intervention time is lost. The new standards will be distributed to medical professionals in obstetrics and gynecology, reproductive endocrinology, psychiatry and psychology, geriatrics, neurology and other specialties to help guide decisions about genetic testing and counseling.

"While we have made great progress in increasing awareness of fragile X with pediatricians who have young patients with mental retardation or autism, it's clear from the focus groups that awareness of how it can affect other family members is not strong in other important specialty areas," said Randi Hagerman, medical director of the M.I.N.D. Institute, director of the Fragile X Research and Treatment Center and principal investigator of the CDC project.

"Fragile X is truly a family affair, and the new guidelines will undoubtedly lead to earlier identification and treatment as well as improved outcomes for patients."

Four focus groups held from January through June 2006 brought together scientists, families and service providers to identify who needs to be screened for fragile X syndrome, essential family history information to obtain during medical visits, appropriate intervention and counseling referrals, and the medical specialists who need to be aware of the full spectrum of fragile X outcomes. The meeting at the M.I.N.D. Institute was the first opportunity for facilitators of each of those focus groups to publicly present their recommendations and gain additional feedback.

"Fragile X runs in my family," said Lorraine Ruiz, who is a clinical nurse at the M.I.N.D. Institute. "My niece received her diagnosis at birth, while four other family members received their diagnoses as adults. The early interventions and services my niece received capitalized on her strengths throughout her development and had a significant impact in maximizing her potential. Knowing sooner rather than later about fragile X can make a big difference in the quality of a child's life."

"I'm so appreciative of Randi Hagerman for all that she has taught me about fragile X," said Robert Hendren, executive director of the M.I.N.D. Institute and a practicing child psychiatrist. "Now I consider the whole family when treating a patient with mental retardation, autism, anxiety disorder, attention deficit hyperactivity disorder, or another condition that can be caused by fragile X."

Hagerman will now work with parent and industry groups to develop an information and awareness campaign targeting the medical specialists who need to know about fragile X and symptoms to look for in patients who may have the premutation or full mutation.

"The focus groups were just the beginning," she said. "There's still a lot of work ahead, but we are inspired by the community of people the CDC project has created who are committed to helping us spread the word."