Fragile X: A common but little known genetic condition


    LOUISVILLE, Ky. – After Shannon Casasfranco’s 2-year-old son John was diagnosed with autism at Weisskopf Child Evaluation Center, doctors recommended genetic testing be done right away. John’s test uncovered Fragile X, a common but little known group of genetic conditions that had implications for the whole family. Fragile X is responsible for John’s autism as well as Shannon’s poor math skills and premature menopause and may have affected others in her extended family, as well.

    Infants born with a fully mutated FMR1 gene may have Fragile X Syndrome, which can cause intellectual disability, autism and/or delays in development, speech and language. It is the leading inherited cause of intellectual disability, autism and developmental delay.

    Carriers, whose FMR1gene has changed but not fully mutated, may have mild problems in childhood such as a learning disability, or issues such as anxiety and social difficulty in childhood and adulthood. They may also develop infertility and neurological problems including tremors, imbalance and dementia. Some carriers do not ever experience symptoms.

    Shannon and John Casasfranco are both carriers of the premutated gene but their premutations are different. John has autism, which is not typical of carriers, because his FMR1 gene does not produce enough protein for normal cognitive development. Fragile X Syndrome affects one in approximately 4,000 men and 6,000 women. Roughly one in 250 women and 800 men carry the premutation of the gene that allows it to be passed along to later generations. Although it’s relatively common, many people are not aware of Fragile X or the resources available for those with this genetic condition.

    The only Fragile X clinic in Kentucky

    The Weisskopf Child Evaluation Center is home to one of 27 Fragile X clinics affiliated with the National Fragile X Foundation.

    “Because of our affiliation with the Fragile X Clinical & Research Consortium, we can provide care to patients and families like the Casasfrancos that is based on the most up-to-date knowledge and recommendations of clinicians across the United States who have expertise in Fragile X,” Lisa Craft, M.D., medical director of the WCEC Fragile X clinic, said.

    Clinic services include evaluations by a developmental pediatrician, psychologist, occupational therapist, speech-language pathologist and social worker to children through age 21. Patients benefit from state-of-the-art evaluation and treatment recommendations and may also participate in clinical trials of medication or other therapies. Adult carriers obtain genetic counseling at the clinic as well as information about specialists in adult movement disorders and infertility. A Community Support Network of local parents and families provides support, resources and educational opportunities.

    July 22 is National Fragile X Day

    Casasfranco encourages families to speak to their doctor about genetic testing if they are concerned about children not meeting milestones or suspect that Fragile X is an issue in their family.

    “If we hadn’t have gotten John tested, we wouldn’t know anything. There is no blood test for autism but there is for Fragile X. Now we know there’s a biological reason for his disability. It’s a hard thing to swallow but you’ve got to plan,” she said.

    According to Craft, Fragile X genetic testing should be considered for: