What is Fragile X Syndrome

Maybe you have undergone an amniocentesis in the course of your pregnancy check ups since your age or other medical conditions have warranted such a test. Similarly, you might have had a chorionic villus sampling done thereafter and the results are in and undisputable: your child has inherited from you the genes that that cause fragile X syndrome. Grasping the complexity of fragile X syndrome is not as simple as it sounds, especially considering that it manifests with a host of different symptoms and also severity levels.

A Birth Defect on the Rise

In a child, fragile X syndrome will present with mental retardation although it is uncertain how severe the retardation will be on a case by case basis.

It is hereditary and appears to affect males more commonly than females. In its most benign form, the retardation will be so mild that the child will be able to attend regular schooling and simply make up for the birth defect by the same help that those with learning disabilities would benefits from.

In the severe cases, schooling is often not an option. Early in the life of the child, she or he will be subject to frequent bouts of anger or frustration while at the same time behaviors akin to autism might be displayed. Developmental milestones are either not reached at all or only delayed when compared to other children in the affected infants peer group.

While there are some physical characteristics that a child might be suffering from fragile X syndrome, these are usually so hard to notice that the outward appearance should not be taken into account when seeking to evaluate a childs possible potential for having inherited the birth defect.

Are you a Carrier?

To find our whether or not you are a carrier, it is important to consider a number of tell tale signs that you could be affected:

    1. First and foremost, you do not need to suffer from fragile X syndrome in order to be a carrier. It is imperative that this is established early on.

    2. Women who have been diagnosed with learning disabilities themselves will benefit from having tests done to ascertain if perhaps their learning problems could be traced back to the fragile X gene.

    3. If at some point you have complained of unexplained muscle tremors or twitches which may have only been transitory or may have presented for a while, you will benefit from being tested.

    4. Finally, if you are undergoing fertility treatments yet are still under the age of 40, testing for the presence of fragile X syndrome markers may already be part of the routine tests run by the attending specialist, but just in case that it is not part and parcel of the testing process, you will be wise to demand that a test be run to ensure that you are not suffering from fragile X related ovarian dysfunction.

Even if you are being diagnosed while pregnant, do not despair! Fragile X syndrome does not have to be severe and mental retardation may not be present if your female child turns out to only be a carrier. Similarly, even though there is no cure for the syndrome, there are numerous treatment options currently available that will ensure your childs maximum quality of life.