Presentation description

Fragile X Syndrome (FXS) is the single most common inherited cause of intellectual disability and autism. 1:4000 boys and 1:8000 girls are affected. 1:250 individuals are carriers of Fragile X. FXS often has a delayed diagnosis or is not diagnosed at all. FXS is a spectrum disorder, with some individuals exhibiting mild delays and others who struggle with speech, activities of daily living, and behavioral limitations. In general, boys are more severely affected than girls. It is important to identify children early and begin treatments while they are young.

Historically, there has been no FXS treatment clinic within 600 miles of Utah. As a new Fragile X Clinic, we have received a grant called "The Belonging Grant" to develop an equitable and inclusive FXS program at The University of Utah and Primary Children's Hospital. The Belonging Grant focuses on increasing knowledge of FXS for both primary care providers and families. After surveying physicians' FXS literacy, implementation of educational resources/materials will be given to improve FXS knowledge and awareness allowing providers to better diagnose, treat, and support families with FXS in our rural clinical settings.

After completion of the parent feedback surveys and implementation of resources/community programming, we hypothesize that families will have a higher sense of being supported, decreased rating of isolation and anxiety, and improved health status. Our goal is to work alongside the urban and rural communities in Utah and the surrounding areas to meet their needs for diagnosis and treatment of FXS.