Fragile X Syndrome (FXS)

Primer

Fragile X Syndrome (FXS) is an X chromosome-linked dominant disorder caused by the amplification of a CGG repeat in the 5′ untranslated region of the fragile X mental retardation gene 1 (FMR1). It is the most common inherited cause of intellectual disability.

Epidemiology

There is a prevalence of 1 in 3600 to 4000.[1]

Comorbidity

Individuals have very high rates of anxiety disorders (over 80%), attention-deficit/hyperactivity disorder (over 50%), autism (30 to 35%), and mood instability and aggression.[2]

Diagnosis

Pathophysiology

Differential Diagnosis

Investigations

Treatment

Resources

For Patients

For Providers

Articles
Research

References

1) M Wadell, P., J Hagerman, R., & R Hessl, D. (2013). Fragile X syndrome: psychiatric manifestations, assessment and emerging therapies. Current psychiatry reviews, 9(1), 53-58.
2) M Wadell, P., J Hagerman, R., & R Hessl, D. (2013). Fragile X syndrome: psychiatric manifestations, assessment and emerging therapies. Current psychiatry reviews, 9(1), 53-58.