The Theory of Nothing

What the heck is the fragile-X syndrome?

What the heck is the fragile-X syndrome?

This is interesting because it’s a genetic disease that’s responsible for a good deal of the autism as well as a lot of other intellectual, vision, and psychiatric disabilities in boys.

First of all, we have to go back to the basics. As you might know, sex is determined by the sex chromosomes. Girls have two X-chromosomes and boys have an X and Y-chromosome, and because of this girls have a huge genetic advantage over boys because they have two very important duplicate X-chromosomes. If there is a defect in one of their X-chromosomes, they have another copy to back it up. Why is that important? The reason is simple. The X-chromosome contains 2000 of the 20 to 25 thousand genes in the human body. The Y-chromosome contains only 78 genes, meaning that the X-chromosome rules. This is important because defects in the X-chromosome can cause all sorts of genetic disorders. I believe this is the reason that females will eventually evolve to become the stronger sex. Actually, they are the stronger sex now. Sorry guys.

By the way, the X-chromosome is shaped like an X. The disease is also known as Martin-Bell syndrome.

One of the defects in the X-chromosome that can cause autism is a small part of the X-chromosome that is fragile (a fragment on the end of the X-chromosome leg known as the FMR1gene is flawed). The DNA in this fragment is responsible for brain development, the organ where autism lies. This FMR1 gene makes the fragile X mental protein that is required for normal neural development so a flaw in this gene is a bad thing.

Because this is a genetic disorder, there is no drug treatment for it. All the doctors can do is prescribe drugs or psychiatric treatments to quell the mental and behavior problems that result from it.

There are other symptoms attributed to this fragile X-chromosome syndrome. It often causes an elongated face, large protruding ears, flat feet, larger testes after puberty, crossed eyes, memory problems, and low muscle tone. The most debilitating problems caused by this disease are mental and behavior problems.

The ironic thing about this disease is that the female passes it genetically, and girls can also have this genetic problem, but it’s not as common in girls because of their duplicate X-chromosome advantage.

The average age of diagnosis is 35 months. In most cases children are diagnosed for several other development problems before their problem is recognized as FXS. These include Intellectual Disability or Developmental Delay, Attention problems, Anxiety, Hyperactivity, Autism, Self-Injury, Aggressiveness, Seizures, and Depression. This information comes from the CDC.

The only way that FXS can be reliably diagnosed is through a DNA test from blood taken from the patient. After this indicates a positive result, the treatment depends on how bad the disease is and what symptoms are present. I’m not an expert on this disease and for all I know I might have a mild case of it. I just letting people know that it exists. Keep in mind that DNA testing is something that is recent. Many of the developmental cases resulting from FXS in the past could have gone undetected.

Help is available from National Fragile X Foundation and the CDC.

Thanks for reading.