Fragile X Syndrome Awareness Day: What is it?

Posted on July 21, 2017 by kerri

July 22 is Fragile X Syndrome Awareness Day. Fragile X Syndrome, also known as FXS and Martin-Bell Syndrome, among other names [1], is a genetic condition which causes intellectual disability, and also is associated with characteristic physical features of the syndrome. Each person with Fragile X Syndrome will have a variable presentation of the syndrome—they will not have all physical features associated with this condition, and will have varied degrees of learning or intellectual disability. [1, 2]

Both males and females can inherit Fragile X Syndrome, although males are more likely to inherit a more severe form of the syndrome than females. If you remember high school biology, this is because of how the chromosomes function: as its name denotes, FXS is inherited via the X chromosome—women have two X chromosomes, men have an X chromosome and a Y chromosome. To put it in simple terms, women have the chance of carrying X-linked disorders—like FXS—twice, which means that if one X chromosome carries genes for FXS and the second does not, it will result in a less severe form of the disorder. In fact, some women carry the full FXS gene, called FMR1, yet do not have the condition because of this. [2] FXS results from one gene—FMR1—not working at all to perform its normal functions. [3]

While many genetic disorders have well-known and typical characteristics—such as Down Syndrome—FXS is much more variable in its presentation. Co-existing conditions, or conditions which have symptoms that may also fall under the FXS umbrella include seizures [1], as well as attention deficit disorder (with or without hyperactivity) and issues with focus and attention [1], autism spectrum disorders, and symptoms that may typically be seen as characteristic of autism—self-stimulation such as hand flapping/rocking, difficulty making or understanding eye-contact, sensory issues—and other disorders that are may co-occur with but also exist independent of autism, including social anxiety and depression [2] Fragile X Syndrome affects boys and girls disproportionately—males are affected at a one-third to one-half greater risk of developing FXS. [3] Up to a third of girls and women with FXS may have severe intellectual disability, while the other two-thirds experience milder intellectual or learning disability. [2] Girls and women also have similar mental health issues to men with FXS, including social anxiety and generalized anxiety disorders. [2] As well, females have a 10% lower risk of experiencing seizures as a result of FXS than do males.  [1]

Given the less severe presentation of FXS, often, females do not have as obvious physical signs of Fragile X Syndrome as do males. Individuals may also “grow into” or develop more obvious physical features of FXS past-puberty, especially boys [2]. These features include large ears, elongated face, soft skin, and connective tissue problems which may result in ear infections, flat feet, structural changes of the palate (top or “roof” of the mouth), and joint anomalies, such as double-jointedness and hyper-flexible joints. [2]

While FXS varies for each person, it is important to wear medical ID jewelry identifying genetic disorders such as Fragile X Syndrome. If a person has a seizure disorder it is of greater importance to wear medical ID jewelry to ensure appropriate response to a seizure if the person is away from people familiar with their medical needs. Check out our medical alert jewelry for Fragile X Syndrome.

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