Fragile X syndrome

Fragile X syndrome, abbreviated as FXS, is a genetic disorder caused by the changes in the gene Fragile X Messenger Ribonucleoprotein, or FMR1. In FXS, FMR1 doesn’t make the protein FMRP that is usually produced, causing FXS in individuals.

It isn’t fully known how many individuals have FXS, but it is estimated that it affects about 1 in 7,000 males and 1 in 11,000 females. Individuals with FXS may have developmental delays, learning disabilities, and/or social and behavioral difficulties, including sensory issues. It can also be the cause of autism, although it’s not always the case that it causes autism. FXS can be diagnosed using an effective DNA test that is specific to FMR1. Here are a few myths about FXS.

Myths

Myth 1: FXS only affects boys 

As it statistically affects boys more frequently and to a higher extent, FXS can also affect girls. 

Myth 2: FXS is always diagnosed at birth

This is not always the case, as babies aren’t typically tested for FXS, and some families may take years to find out that their child has FXS. 

Myth 3: There’s always a family history of FXS for an individual to also have the condition. 

The genetic mutation is an expanding mutation that can grow bigger through the next generation, so while one person may have a slight genetic mutation, it may develop into FXS in the next generation.

Fragile X Syndrome is considered rare, meaning there are less than 200,000 cases of it each year in the US, as estimated. However, there is continual research being done on the rare condition. Last, there are many supports for individuals with FXS, including special education, speech therapy, physical therapy, to name a few.