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Fragile X
Fragile X is the most most common type of inherited mental impairment, and can range from mild learning disabilities to severe cognitive disorder. It is caused by changes in a gene called the FMR1 on the X chromosome. As many as one in 2,000 males are affected, and one in 4,000 females.
Some physical characteristics in a child with Fragile X can include an elongated face, large ears, flat feet, and enlarged testicles. (Some of these may not appear prominently until puberty). Behavioral issues can include autistic like behaviors such as hand flapping, as well as excitability and distractibility. Many with Fragile X also have ADHD and/or sensory dysfunction. Speech and language often present challenges, especially in boys. On the positive side, Fragile X children are often friendly, loving, and enjoy good humor and company, a noted contrast from most on the autism spectrum.
Certain health issues are associated with Fragile X. These include heart valve defects (usually not fatal), gastro-esophageal reflux disease, inner ear problems like chronic infections, and a greater likelihood of joint dislocations. All of these are associated with poor connective tissue.
There is no cure for Fragile X, but early intervention and treatment can help a child learn to improve their difficulties. Physical and behavioral therapy, individualized to the child's needs, are vital to help a child reach their full potential.