Fragile X Syndrome, a little known disorder, is the leading inherited cause of intellectual disabilities; U of L has only clinic for it in Ky.

A common but little-known genetic disorder called Fragile X Syndrome is the leading inherited cause of intellectual disability, autism and developmental delay, and the University of Louisville is home to the only Fragile X clinic in Kentucky, the university said in a press release.

Varying levels of disability are associated with the syndrome, depending on whether the FMR1 gene associated with the condition is fully mutated or merely changed but not fully mutated, according to the release.

The federal Centers for Disease Control and Prevention explains that the FMR1 gene is responsible for making a protein that is needed for normal brain development. Those with the syndrome don’t make this protein, and those with altered genes don’t make enough of it.

Infants born with the fully mutated gene may have intellectual disability, autism and/or delays in development, speech and language. Those with altered genes are more likely to have milder problems in childhood, such as a learning disability or issues with anxiety and social difficulty, which can occur both in childhood and adulthood, says the release. They can also develop infertility and neurological problems such as tremors, imbalance and dementia. Some carriers of the altered genes have no symptoms.

Fragile X Syndrome affects one in approximately 4,000 men and 6,000 women, according to the release. Carriers of the altered gene, who pass it along to later generations, are much more common, with approximately one in 250 women and 800 men.

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

John and Shannon Casasfranco had their 2-year-old son John, who had been diagnosed with autism, genetically tested at the center on their doctor’s recommendation. They learned that he had Fragile X, and that they were both carriers of the altered gene.

They encourage 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,” Shannon said.

“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, ;medical director of the WCEC Fragile X clinic, said.

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

  • A child with autism or developmental delays
  • Adults with autism or developmental disabilities with no known cause
  • Adults with a tremor or balance problem, even if no family members have been diagnosed with Fragile X.
  • Women with fertility problems, even if no family members have been diagnosed with Fragile X.

“With knowledge comes power. Knowing that a child or adult has Fragile X provides the family with a ‘road map’ to help them understand the individual’s needs, challenges and strengths,” Craft said. “A diagnosis helps families find the most appropriate services and connect to other families and professionals who can help them on their journey across the lifespan.”

July 22 is National Fragile X Day.

Previous Article
Next Article

Leave a Reply

Your email address will not be published. Required fields are marked *