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By: Judy Wiley
Date Posted: 9/29/2009
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The Silent Syndrome
Often undiagnosed and unrecognized in a family’s genetic tree, experts deem Fragile X Syndrome as the most common inherited cause of intellectual challenges, including some cases of autism. Robert Miller, executive director of the National Fragile X Foundation, says an estimated 1 million Americans have, or are at risk for developing, a Fragile X-associated disorder. To Argyle mom Jayme Haney, a carrier of Fragile X and mom of two sons with the syndrome, this fact hits close to home. Finding the diagnosis can take years because babies with Fragile X Syndrome display no early symptoms, except for varied developmental delays at 6 months. However, Dallas’ UT Southwestern University Hospital is home to revolutionary Fragile X research that could lead to possible discoveries for treatment of autism, and even Alzheimer’s and Parkinson’s diseases. This research could lead to better care for children and adults living with Fragile X Syndrome, says Miller. More importantly, it could mean a cure.
Genetics and Diagnosis
The latest research shows that people like Haney, carriers of Fragile X, are strikingly common in the general population. Dr. Randi Hagerman, director of California-Davis’ M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute, a pediatrician and one of the nation’s top Fragile X researchers, says the incidence of carriers may be as high as one in 130 females and one in 250 males. To date, no one knows what causes the gene’s mutation. The effects of carrying a Fragile X gene span generations — most of the time going unnoticed, as in Haney’s case. Haney started looking for answers behind her sons’ development delays and turned to her father, 66, who was experiencing tremors and muscle coordination problems. Testing revealed that her dad carried Fragile X, explaining how Haney passed the gene to two of her three sons. Haney’s middle son does not have the syndrome. Not all children who exhibit learning, behavioral or developmental challenges are tested for Fragile X. In Texas, as in most states, Fragile X is almost always diagnosed at age 3, says Miller, after parents recognize delays in development. Around age 3-5, behaviors such as hand flapping, repetitive speech, anxiety and hyperactivity develop. Children with Fragile X don’t develop the telltale physical characteristics of the disease — big ears and a long face — until as late as puberty. Dr. Mary Kukolich, a North Texas pediatric geneticist, says parents and pediatricians need to be alert: “Any boy who has speech delays and autistic-like behavior should be tested for Fragile X.”
Research Developments
Science experiments, in the form of sophisticated, cutting-edge research at UT Southwestern Medical Center, could wind up helping Haney in other ways, along with potentially millions of others. Kimberly Huber, PhD., associate professor of neuroscience at UT Southwestern Medical Center, is studying genetically altered mice to try to learn more about the brain chemistry involved in Fragile X.
Researchers, including Huber, believe that some of the same brain pathways responsible for Fragile X Syndrome may be similar to those that case Alzheimer’s and Parkinson’s diseases. Thus, research in the genetically based realm of Fragile X could potentially provide important insights into other devastating conditions. “I think Fragile X is leading the way to find a cure — treatment — in the autism field,” says Hagerman. ntc
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