Fragile X: The Hidden Key?

by Abigail Knowles Wolfe (BPRW)

The numbers are at times startling to the common person, with a reported one out of every 150 American children currently diagnosed with some form of autism. According to statistics provided by the Autism Society of America (ASA) as issued February 2007 by the Centers for Disease Control and Prevention (CDC) the prevalence of autism has risen in past years. The question remains, is the occurrence of Autism Spectrum Disorders really so dramatically different from decades past, are doctors over-diagnosing, or are we as a society simply more adequately equipped to diagnose children than in the past? Furthermore, is anything foreign we are putting into our children’s bodies affecting these statistics? The answers are coming to us little by little.

Autism itself is a complex developmental disability that appears during the primary three years of a child’s life and affects his or her ability to communicate and interact with other people. Most often referred to as an Autism Spectrum Disorder, one of the major Pervasive Developmental Disorders found in children, autism is defined by a certain set of behaviors that affect each individual differently and to varying degrees.

Fragile X syndrome and the fragile X family of genetic conditions may provide a key to unlocking many secrets of autism and inherited mental impairment however. A reported two to six percent of all children diagnosed with autism have the fragile X gene mutation according to the National Fragile X Foundation. Furthermore, fragile X syndrome is the most universal single genetic cause of autism.

Fragile X may more simply be described as a mutation on the long arm of the X chromosome. Girls carry a pair of X chromosomes while boys carry one X and one Y. Therefore, if one X is abnormal, girls are able to compensate with their remaining X. Boys on the other hand, more readily develop symptoms such as autism or mental retardation without a second X chromosome to compensate. While this discovery may account for only 5% of genetically heritable cases of autism, scientists and activists alike are excited at the implications for finding possible links to other inherited diseases with the intention of treating autism and other diseases as well.