Fragile X: what is it?


     Fragile X is a chromosomal disorder that affects the brain. It is more common is boys that is in girls because boys have one X and one Y chromosome and girls have two X chromosome girls has a 50/50 chance of developing Fragile X,  although they are passing Fragile X to their potential sons. It’s the only known cause of Autism.

     The Symptoms are in a boy who has the full FMR1 mutation has fragile X syndrome and will have moderate mental retardation. They have a particular facial appearance, characterized by a large head size, a long face, prominent forehead and chin and protruding ears. In addition males who have fragile X syndrome have loose joints (joint laxity), and large testes (after puberty).Affected boys may have behavioral problems such as hyperactivity, hand flapping, hand biting, temper tantrums and autism. Other behaviors in boys after they have reached puberty include poor eye contact, preservative speech, problems in impulse control and distractibility. Physical problems that have been seen include eye, orthopedic, heart and skin problems.

   People with Fragile X can be thought [early intervention is the key], depending on the severity of the fragile X, some men can live independently in their house, some go to a group home. They can finish High school and some can hold a job. I know it’s hard to get a diagnosis of fragile X but there’s HOPE


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