Fragile X Syndrome is caused by a mutation of the FMR1 gene on the X chromosome. This mutation is usually inherited and can cause intellectual disability, behavioral and learning challenges, and various physical characteristics. Symptoms associated with fragile X syndrome can be treated using therapy, intervention, and medication.

Individuals with the fragile X premutation have an expansion of the FMR1 gene on the X chromosome. It occurs in ~1 in 150 females and ~1 in 470 males. Those with the premutation are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). Individuals with the premutation may pass their affected chromosome to their children, and in that process, the premutation may expand into the full mutation.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that develops later in life in some individuals with the fragile X premutation. FXTAS can cause a tremor in the hand while completing tasks, balance difficulties, short-term memory problems, and difficulties with decision making. FXTAS may look different between males and females. The factors that contribute to an individual developing FXTAS are currently being investigated. While there is no known treatment to slow or prevent FXTAS, therapy can be used to reduce the symptoms of the disorder. 

The Lifespan Language Lab is currently investigating whether language use could be a pre-symptomatic sign of FXTAS. If a connection is found, further research may allow for FXTAS to be diagnosed earlier, and allow individuals who will develop FXTAS to receive treatment and therapy before they begin to show symptoms. Regardless of whether or not a connection is found, this study will be one of the first to analyze the language of both male and female premutation carriers, and will further our understanding of how the fragile X premutation affects language.

The National Fragile X Foundation is an excellent resource for learning more about Fragile X, the premutation, and associated conditions. 

If you are interested in learning more about Fragile X Syndrome and its associated conditions, you can find their FAQ here. 

If you are interested in finding further resources, you can access their resource page here.

If you are interested in learning some quick facts about Fragile X, you can find them here.

More information about the Blue Envelope Program in Arizona can be found at this ADOT site. 

If you are a member of law enforcement and would like more information about training related to the Blue Envelope program, please email lifespanlanguage@email.arizona.edu.

Nell Maltman of the Lifespan Language Lab, alongside Terry Matsunaga, PhD, and Kate Elliott, MSW, discuss ways that professionals can enhance communication with individuals of the neurodiverse community. Watch the presentation recording here.