Has this person ever been diagnosed with Fragile X?Questionnaire: Child with ASD Why Is This Important?Fragile X Syndrome is one of the few known causes of autism. Fragile X Syndrome is a genetic disorder caused by the mutation of a single gene on the X chromosome. The gene, which is supposed to make a protein needed for normal brain development, is turned partially or totally off. Individuals with Fragile X often suffer a variety of developmental delays, and have a distinct physical appearance including a large head, long face, and prominent ears. About 25-33% of them will also have autism. Estimates of how many individuals with ASDs also have Fragile X range from 1 - 6%. (Of course, some cases of Fragile X in children with autism may go undiagnosed.) It is hoped that the overlap between Fragile X and autism may point the way to answers. A diagnosis of autism is currently made based entirely on behavior. There is no known cause, and no known biological marker of the condition. (In other words, you can’t draw a blood sample, look at an MRI, or do a genetic test to tell if a person has autism.) In contrast, a diagnosis of Fragile X is made entirely based upon genetics, and the multiple influences of this one gene gone wrong on structure and processing in the brain are at least partially understood. It is hoped that, by using Fragile X as a starting point, progress may be made in solving the mysteries surrounding autism. Data from IAN Research:
As of the date of this chart, about 1 percent of children with ASDs in IAN Research have also been diagnosed with Fragile X Syndrome. |
