[PDF] A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum

What is the fragile X syndrome?

The Fragile X syndrome (FXS) was first described by Dr. Martin and Dr. Bell in 1943, in families with several patients affected by sex-linked mental disability. This disorder is the most common cause of inherited mental disability. The prevalence of the Fragile X syndrome has been established at 1 in 2,500 males and 1 in 4000 females.

What is fragile X-associated tremor/ataxia syndrome?

Fragile X-associated tremor/ataxia syndrome. Men, and some women, with an FMR1 gene premutation are at increased risk of developing a disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS).

Who should be considered for Fragile X testing?

Any child with signs of developmental delay of speech, language, or motor development with no known cause should be considered for fragile X testing, especially if there is a family history of the condition. Behavioral and developmental problems may indicate fragile X syndrome, particularly if there is a family history of mental retardation.

Is fragile X syndrome associated with a disruption of the endocannabinoid system?

Recent studies suggest that Fragile X Syndrome (FXS) and other neuropsychiatric conditions may be associated with a disruption in the endocannabinoid (EC) system. (14.)