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Dr. Lisa Craft, Vanderbilt Children's Hospital

Families with a young loved one diagnosed with Fragile X have a powerful resource in the Fragile X Clinic at Vanderbilt Children's Hospital. Founded in February, the clinic offers patients and families not only medical services, but also education and support to manage the genetic disorder's myriad symptoms.

"It's not just about the medical part. The other things are just so important," said the clinic's medical director, Lisa Craft, MD. "I would not be nearly as excited about this clinic if it were just me. The other people are just critical to really providing the families with something right then and there." Other members of the clinic's team include two speech language pathologists from the Vanderbilt Bill Wilkerson Center, an occupational therapist, a behavior consultant and a clinic coordinator.

Fragile X is an inherited condition and is, in fact, the most common inherited cause of developmental delays, cognitive impairment and autism. Symptoms are caused by changes to one specific gene, called the FMR1 gene. Fragile X can be passed on in a family by individuals who have no apparent signs of the condition. In some families, several members may exhibit symptoms; in other families, a newly diagnosed individual may be the first in the family to obviously have the disorder. So-called Fragile X Syndrome includes one or several different physical, cognitive, behavioral, sensory, speech and language impacts.

At the Fragile X Clinic, Craft first evaluates new patients, looking for issues that might not have been addressed by a previous physician, such as vision problems that can lead to a lazy eye, scoliosis or a heart murmur.

"Kids with Fragile X generally don't have the major physical problems that you might think of, for example, with Down syndrome. So, since the problems aren't glaring and obvious, sometimes they might be overlooked," Craft said.

Fragile X children may have seizures, issues such as aggressiveness or anxiety, or communication challenges. That's when the rest of the clinic's professionals take over.

"Many children with Fragile X are nonverbal, or at least are that way for their first three or four years. They need a communication system," Craft explained. "They do very well with visuals – little pictures of things set out in a certain way – to help them understand their routine and indicate their choices. Some also need electronic communication devices as time goes along. Even children and adolescents who on the surface have pretty good speech skills – a good vocabulary and can interact well – have differences in their understanding of language, or they don't know how to use their language. Other people may not pick up on this or realize how significant it is for a child for Fragile X, so families actually go home with a set of visuals to help them."

Families learn to help their children develop fine motor skills, how to calm their children, how to potty train them and even how to work with school officials who don't understand Fragile X's ramifications. "We work together because a lot of these issues are overlapping," Craft said of the clinic's team.

The new Vanderbilt clinic is a member of the National Fragile X Foundation's Clinical and Research Consortium, established in 2006 to develop a knowledge base of treatment and research initiatives. About 20 clinics are on the list so far. "One of the benefits of the consortium is that there will be a lot of investigations and studies going on, and patients in the clinics will have access to that information and to participate in studies if they want to. That's very exciting," Craft said, adding that work has begun among the clinics to cultivate best practices for evaluations, clinical treatment and family services.

Craft added that Vanderbilt researchers are ramping up investigations into Fragile X, including a clinical trial to test whether baclofen, a spasticity medication, might help with irritability and aggression in Fragile X patients. Another unrelated study is looking at multiple drugs that might be useful in blocking a brain chemical that seems to cause many Fragile X symptoms.

Because the Vanderbilt clinic is housed in the Children's Hospital, treatment stops at age 21, yet at least one geneticist on staff, with the aid of a behavioral therapist, is treating Fragile X adults, Craft said.

"We're very interested in developing a life-span approach, starting in the transition time in adolescence when you have to start thinking about your life after school – getting a job, where to live, a social life," she explained.

Craft noted that Fragile X experts are also working to spread the word about "carriers" of the disorder. Women who are Fragile X carriers might have no symptoms and then suffer fertility problems or early-onset menopause. "That needs to be on the differential for gynecologists who do those evaluations. This is new information in the last five years or so," Craft said. Men who are Fragile X carriers might suffer sudden balance deterioration, tremors and even a cognitive decline in their 50s or 60s.

"We think probably half the people who have Fragile X have not been identified," Craft said, "and that may be a low estimate."

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