Fragile X Syndrome: Getting to the Diagnosis Behind the Diagnosis
For parents of children struggling with symptoms of intellectual disability and Autism Spectrum Disorder, getting a diagnosis can be a huge relief. With a diagnosis, everyone can plan a course of action. But if the child has Fragile X Syndrome (FXS) and the search for answers stops short of finding it, the child – and other members of the child’s family – can miss out on life-changing treatment.
FXS is the most common inherited form of intellectual disability and autism. About one in 130 women and one in 250 men are Fragile X carriers, and parents can pass FXS on to their child. Though they don’t have symptoms in childhood, adults who are carriers can develop problems later in life – including anxiety and depression, premature menopause among women and Parkinson’s-like symptoms among men. Sometimes, once a child is diagnosed with FXS, the parents remember that aunts, uncles or siblings have struggled with symptoms. Good reporting on the topic can help raise awareness and point families in the direction of the simple DNA blood tests that detect this genetic mutation.
Gary Feldman, M.D., a developmental pediatrician and medical director of the Stramski Children’s Developmental Center at Miller Children’s Hospital in Long Beach – home to Southern California’s only Fragile X program – says the reporting he has seen on Fragile X is generally accurate. Still, he believes the general public probably isn’t quite as aware as they should be that all children with autism and intellectual disabilities should be tested for FXS. [Click here to read my interview with Feldman for L.A. Parent.]
Among pediatricians, awareness of the condition is now improving to the point where the Stramski center sees patients whose family doctors suspect they have FXS, though there is more work to do there as well. “The train is slowly starting to leave the station,” says Feldman, who has been working with Fragile X patients since 2004. There isn’t yet a cure for FXS, but a diagnosis for the child and genetic counseling for the family can mean improved treatment for all.
On the horizon, Feldman says, are drugs that make long-lasting changes to the architecture of the brain and could lead to a cure. For reporters looking to stay up-to-date on Fragile X, he recommends:
The National Fragile X Foundation, www.fragilex.org: The organization, which partners with the Stramski center and several other clinics around the country, launched a new website last year. The media section is still fairly sparsely populated, but there is up-to-date info about ongoing clinical trials and other research in the “research” section, and plenty of story ideas to be had by clicking the “latest news” tab.
Rush University, www.rush.edu: Elizabeth Berry-Kravis, M.D., Ph.D., directs the university’s Fragile X Clinic and has been involved in research and clinical work with Fragile X patients for 14 years.
Also check out this research released last month by the Washington University School of Medicine: https://news.wustl.edu/news/Pages/24953.aspx . Working with mice in the lab, researchers there found that Fragile X causes changes in the nerve cells in the brain that send signals, turning them into “chatterboxes.” And they were able to use synthetic copies of FMRP to correct the problem.
PHOTO COURTESY MILLER CHILDREN'S HOSPITAL