Topic > Fragile X Syndrome - 546

I. Family Member Perspective: It all started at birth when we noticed that our newborn had a slightly larger and more rounded head than other babies. During development he always had difficulty communicating with us. His language development was lacking causing constant behavioral problems. He was constantly screaming and throwing things whenever he needed something. At the age of four our son had enormous difficulty communicating with his preschool class, forcing us to remove him from preschool and begin homeschooling our son on our own. While trying to educate our son about different shapes and sounds, he couldn't stay in one place for more than five minutes. This led us to undergo genetic testing for ourselves and our son. We learned that my wife was a carrier and had a 50% chance of having a child with the full Fragile X mutation, and our son was diagnosed with the full Fragile X.II mutation. Background: Martin and Bell, in 1943, discovered that a particular form of mental retardation was “X-linked”. In 1969, Herbert Lubs developed the first chromosomal testing kit for fragile X syndrome1. More recently, in 1991, the specific gene that causes fragile X syndrome was identified as FMR12. Famous people who have/had Fragile X Syndrome include: Albert Einstein and Abraham Lincoln. Physical Manifestations (Symptoms) 3: ● Large head circumference in children ● Intellectual disability ● Large testicles after the onset of puberty ● Social anxieties ● Subtle differences in facial features ● Attention deficit ● You can diagnose this disease with genetic testing Data statistics 4: ● Fragile X syndrome is diagnosed in boys at an average age of 35-37 months and in girls at an average age of 42 months ● ..... .center of sheet.... ..PubMed Health, "Fragile X Syndrome." Last modified September 6, 2011. Accessed November 18, 2013. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/Centers for Disease Control and Prevention, “Fragile X Syndrome (FXS).” Last modified: August 27, 2013. Accessed November 18, 2013. http://www.cdc.gov/ncbddd/fxs/data.html.Genetics Home Reference, “Fragile X Syndrome.” Last modified: April 2012. Accessed November 18, 2013. http://ghr.nlm.nih.gov/condition/fragile-x-syndrome.National Fragile X Foundation, “Treatment and Intervention.” Accessed January 30, 2014. http://www.fragilex.org/treatment-intervention/.Wells, Robert. American Society for Biochemistry and Molecular Biology, “Mutation spectra in fragile X syndrome induced by deletions of CGG•CCG repeats.” Last modified: October 28, 2008. Accessed January 30, 2014. http://www.jbc.org/content/284/12/7407.full.