Expression by Lee Studios

Fragile X Syndrome

I am compelled to write about Fragile X because many do not know of it's existence. I work with a wonderful boy William, diagnosed with Fragile X Syndrome. 

 
FXS (Fragile X Syndrome) is a genetic condition that shows typical physical attributes along with behavioral and developmental anomalies in a child. It is also called Martin Bell syndrome or a Marker X syndrome. I was asked, "Why X?" the reason is that one of the genes in the x chromosome is faulty. This genetic condition causes intellectual disability, behavioral and learning challenges and various physical characteristics. No one individual will have all the features of FXS, and some features, such as a long face and macroorchidism, are more common after puberty.

Behavioral characteristics can include ADD, ADHD, autism and autistic behaviors, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders and increased risk for aggression.

Each of the males possesses an X and a Y sex chromosome while females contain 2 X chromosomes in all their cells. The specific gene on the X chromosome makes a protein necessary for brain development. If it is faulty there is a deficiency of this protein.

The gene is called the FMR1 gene. The Faulty X chromosome is seen to have a band like constriction near the tip that appears as if the chromosome is broken off at the end. Hense the name, Fraigile X.

Since boys have a single X chromosome, they are more severely affected than girls who may have one normal FMR1 gene on the second healthy X chromosome. Affected girls may have only mild disabilities.

 While individuals with FXS will experience a number of challenges in their lives, given effective interventions and support they can be engaging and productive members of their families, schools, workplaces and communities.

William is very intelligent and uses the visual arts for soothing, and has recently adopted music, he loves to participate in the musical activities.

Those affected by Fragile X are more than their diagnosis. For support and to learn more visit: http://www.thexfamily.org/