Presentation description

Fragile X Syndrome (FXS), caused by a mutation of the FMR1 gene, is the most common inherited cause of intellectual disability and autism. It leads to a lack of fragile X messenger ribonucleoprotein, which regulates brain and body development. FXS causes motor, speech and cognitive delays, as well as autism.

The University of Utah and Primary Children's Hospital have created a new Fragile X clinic, the only FXS clinic in a 600-mile radius. This clinic was awarded the National FXS foundation's "Belonging Grant", aimed at outreach to underrepresented groups, with a focus on rural and Native families. Native communities face unique barriers to diagnosis, care access, and research participation due to location, mistrust of genetic testing, and limited healthcare access.

We are conducting surveys to measure families' connectedness to both the FXS and clinic communities. The first survey will assess background, community living, social status, and health status. After participating in clinic events (webinars, clinical appointments, outreach), families complete a post-survey. The post-survey assesses their confidence in explaining FXS to others, gaps in support or resources, and desired future clinic events, in addition to repeating questions they answered before. Data will be analyzed using a multivariable regression model to assess the change in participants' overall status.

Additionally, we are collaborating with Native communities to develop culturally sensitive outreach and build trust through partnerships with local health professionals and community leaders. This research aims to improve support systems, promote early diagnosis of FXS, and inform future outreach in genetic healthcare.