Brandon Reynolds, the author of the article Changing Minds: Advocates Reshape How We Think About Autism which recently appeared in the SF Weekly, has a brother with Fragile X syndrome and has been a past contributor to the NFXF’s . (December 2011 – Issue 43, “Wired Funny: The FX Sense of Humor.”) The article features quotes from our executive director, Robert Miller, FX expert and medical director at UC Davis’ MIND Institute, Randi Hagerman, and several FX parents.
Autism is so little understood in the world at large that practically nobody’s ever heard of one of its commonest forms. It’s called Fragile X syndrome, and while it’s not well known, it is pretty well understood by science.
A disorder affecting about one in 3,600 boys and one in 5,000 girls, Fragile X syndrome is responsible for about 5 percent of all autism diagnoses. Fragile X is, genetically speaking, simple enough: It’s caused by a mutation on a single gene on the X chromosome. The mutation shuts down production of a protein important in the development of synapses, the 100 trillion connections between brain cells that wire and rewire themselves throughout life. How important that gene is to the development of behavior, personality, and maybe even consciousness is still being researched, but it gets into squishy philosophical territory.
What’s happening inside the skull when organisms are going around and learning and storing memories and accruing experiences is basically a dialogue between the macroscopic world and the microscopic one. Experiences — learning a language, figuring out how to walk or run or do fractions, storing images and voices — all those familiar things are being encoded from one brain cell to another across the synapses, the gap, the absence where everything happens. Faces and languages and memories aren’t actually stored in the brain in pictures or words, but in the patterns the neurons develop. But those neurons by themselves are no more the self than a chessboard is a chess game. The self isn’t a product; it’s a process.
Think of those old-timey telephone switchboards with the women in big glasses, plugs going in and out. Des Moines, you’ve got Cleveland on the line. The shape of an apple traces one pathway, a lullaby traces another. Special proteins hanging out in brain cells are making and breaking those connections. Into this environment comes that Fragile X protein to regulate these interactions, the operator with the biggest glasses.
This protein is called the Fragile X Mental Retardation Protein, or FMRP. While it would seem by its name that the protein causes Fragile X syndrome, in fact it is the absence of this important regulating protein that causes the disorder. The absence of FMRP in boys can cause mental impairment, autism, anxiety, hypersensitivity, epilepsy. It’s less severe in girls, who have another X chromosome to offset these effects. Still, girls with Fragile X can have learning disabilities, depression, and reproductive issues. Carriers of Fragile X may not display these extreme qualities, but can be affected by physical and mental problems later in life. Anecdotally, another symptom of Fragile X kids is a good, if weird, sense of humor.