Fragile X Syndrome is the Number One Inherited Cause of Mental Retardation

There is a lot to think about before you have a baby. You will be faced with so many responsibilities after the birth of your baby. But what about before you have the baby? There are also things you need to consider. Some of this considerations should be your health, your finances, your choice of housing, your family and the family of the soon to be father’s genetics. Yes, I said genetics, as in the gene pool, the DNA you both possess. The reason I am saying you should think about this is because I just learn of a syndrome called Fragile X Syndrome.

What is it, you ask? First let me tell you what it can cause. Fragile X Syndrome (FXS) is the leading cause of mental retardation. And it is the only known cause of autism. Boys are usually more severely affected by FXS. Most of the boys who has FXS has full mental retardation while only one-half to one third of girls born with it has significant intellectual impairment. The rest of the girls usually have normal IQ’s or some learning disabilities. Plus, twenty percent of boys with FXS meets the full criteria for autism.

Now what causes it? Plain and simply put it is inherited.

All humans are born with 23 pairs of chromosomes. Chromosomes consist of genetic material that is necessary for the production of proteins which is used in the growth process of human, physical development and intellectual characteristics. The first twenty-two pairs of chromosomes are the same in both males and females. The remaining pair is the pair that determines ones sex, these chromosomes are called X and Y. Males have both an X chromosome and a Y chromosome. They receive the Y from their father and the X from their mother. Females inherit two X chromosomes, one from each parent. When one has FXS, the X chromosome is abnormal.

The reason why less women are affected by FXS is that since they have two X chromosomes, if one is affected they still have a spare one to help make up the loss of the protein needed.

The symptoms of FXS can include:

Mental impairment, from learning disabilities to full mental retardation,

Attention deficit and hyperactivity

Anxiety and unstable mood

Autistic behaviors

Physical attributes such as a long face, large ears and flat feet.

Seizure disorder (which affects about 25% of people with FXS)

Women who are carriers of FXS are also known to suffer from menopause earlier and has a higher risk of developing Parkinson’s Disease earlier in life (fifty year old range)

Unfortunately, there is nothing we can do now to prevent FXS. But one can be tested to see if they are a carrier. One can be a carrier and still not pass the disorder on to their children. But it could be present in their children’s children.

If a mother is a carrier, all of her children has a fifty percent chance of inheriting the gene. If a father is a carrier, all of his daughters will inherit the gene, but none of his sons.

FXS affects 1 in 4,000 males and 1 in 6,000 females. One in 259 women carry the gene and could pass it on to her children. While about one in 800 men carry the gene and will pass it on to their daughters.

As of now, there is no known cure. But there are treatments, including medications that can help a child maximize their potential.

There is a DNA blood test that you can take to see if you are a carrier or to find out just how fully one is affected with FXS. The test usually costs around $200 and most DNA labs can administer it. The results are usually back in a few weeks.

Most people do not know Fragile X Syndrome, even exists. And it saddens to me to say that many children with learning disabilities who are not correctly diagnosed and many are suffering from Fragile X Syndrome and their parents are unaware of it.

The need for research aimed at treatment and education for Fragile X Syndrome is in urgent demand. Donations are accepted through the Fragile X Syndrome Foundation. There are also groups across the nation for people who are suffering from it or has a love one with it.