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UofL Weisskopf Child Evaluation Center launches Fragile X clinic

Fragile X is the leading inherited cause of intellectual disability, autism and developmental delay

LOUISVILLE, Ky. – The University of Louisville Weisskopf Child Evaluation Center is opening a Fragile X clinic and joining the National Fragile X Foundation’s Clinical and Research Consortium. This brings the number of consortium-affiliated clinics in North America to 27.

 Fragile X is a family of genetic conditions that occurs when a specific gene on the X chromosome does not work properly. Depending on the degree of impairment, an infant born with Fragile X syndrome can have intellectual disability, autism and/or delays in development, speech and language. Those who are carriers of the Fragile X gene (but do not have the full syndrome) may have milder problems in childhood, such as a learning disability.  Carriers are also at risk of developing infertility (in women) and neurological problems (primarily in men) including tremors, imbalance and a decline into dementia.

Fragile X is a common disorder, affecting one in approximately 4,000 men and 6,000 women. Roughly one in 250 women and 800 men carry the gene that causes the disorder and allows it to be passed along to subsequent generations. Some gene carriers do not experience any symptoms; others develop symptoms later in life.

“Fragile X related conditions can be life-changing for individuals and families, often requiring early intervention, special education, behavior management, ongoing medical care, and difficult life choices,” said clinic director Lisa Craft, M.D. “Opening this clinic at Weisskopf Child Evaluation Center will be a great help to those in our community who, until now, have had to travel to Nashville or Indianapolis for care at a Fragile X clinic.”

The interdisciplinary clinic will serve children through 21 years of age. It will meet twice monthly, providing medical services, psychology evaluation, occupational therapy, speech and language therapy and behavioral management consultation. There will be a family advisory council. Genetic counseling will be available, as well, along with referrals to adult movement disorders and infertility specialists. 

As a Fragile X Clinical and Research Consortium affiliated program, the Weisskopf clinic will be able to offer its patients participation in clinical trials of drug therapies and state-of-the-art evaluation and treatment recommendations for management of Fragile X disorders.

 “Affiliation with the Fragile X Clinical and Research Consortium will allow us to provide patients and families with care that is based on the most up-to-date knowledge and recommendations of clinicians across the United States who have expertise in Fragile X.  WCEC has a long history of providing interdisciplinary evaluations of children with special needs and has experienced clinicians who welcome the opportunity to use their skills to address the needs of children and youth with Fragile X,” Craft said.

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