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Fragile X Syndrome: Cause, Symptoms and Intervention

Updated on June 29, 2013

What is fragile X syndrome

Fragile X syndrome (FXS) is a syndrome related to some genetic abnormality. Therefore, this disease can be passed on to children by the mother and is usually affecting male children. FXS is the most common reason for autism among boys and girls. Among boys, the inherited genetic abnormality causes mental retardation. Following is more information about this disease.

Physical Symptoms

Are you suspecting that your child is a victim of FXS? There are physical manifestations resulting from this disease. These manifestations include protruding ears, abnormally large ears, a very long face and testes that are oversized. These physical symptoms can come along with some behavioral oddities such as social anxiety and stereotypic movements.

Social Symptoms

A person affected by the disease usually exhibits social problems including gaze aversion, failure to have good eye contact, challenges about developing peer relationships and inability to start social interaction as necessary. For example, an affected person may have an inability to recognize a person that he or she has seen previously.

The truth is affected persons are actually interested doing social interactions and to display empathy towards people that they know. The problem is they display withdrawal and anxiety when it comes to unfamiliar people. That is why families with FXS cases are strongly advised not to change residence often or just stay in one place until the affected children are ready to move to another place.

Social avoidance is more prevalent among female sufferers than male. It is because the abnormal DNA insertions with females are higher.

If you are interested to know further, it has been found that there is decreased activity in the brain’s prefrontal region for FXS victims. That region plays the biggest part relating to social cognition.

Video: What Is Fragile X Syndrome?

What causes fragile X syndrome

The problem is genetic in origin and it may be difficult for most people to understand the complex medical terms involved. However, a simple would be that there is a specific gene called “fragile X mental retardation 1” on the X chromosome that is affected by the abnormal expansion of a certain “repeat genetic mutation”.

The repeated process causes the absence of expressing a very important protein needed to support normal development of the neurons involved.

During testing for a definitive diagnosis, a geneticist counts the number of repeats of genetic mutation involved in the process. That is, the number of CGG repeats that’s causing the fragile X syndrome symptoms.

The higher the number of repeats is, the more severe the symptoms are. A patient with a high degree of repeats can develop full mutation symptoms, which involves the following (aside from those previously mentioned): a single crease going across the entire palm, palate that is high-arched, flat feet, muscle tone that is low, soft skin, and thumbs and finger joints that can be overly extended.

Suggested Intervention

Proper interventions are critical. At present there are no cures or treatments for the purpose of neutralizing the genetic defects causing fragile X syndrome. What we have now are treatments that are targeted at the behavioral manifestations. It is highly for all patients and their families to undergo genetic counseling, which is a very important step. Make this step to clearly understand if your child needs medications that are specifically made to target attention, impulsivity and hyperactivity problems.

It is also possible that your child may need anticonvulsants, antidepressants, and antipsychotics. You may need to research on these particular medication items depending on the severity of the behavioral problems being manifested.

You may add to your research information on the use of lithium, a chemical that is undergoing serious investigation on its efficacy in improving verbal memory, adaptive behavior and problems in behavioral functioning fragile X syndrome patients. Lithium is a very potential candidate as a medication, so keep watch on latest researches being conducted in this regard.

Find out if available therapies can help in your case. Non-pharmacological interventions such as speech therapy, personalized educational plans or special education, occupational therapy and speech therapy are available. If possible, seek out to find non-medical interventions that can help alleviate physical discomforts associated with fragile X syndrome.

Genetic Counseling

As mentioned, undergoing genetic counseling is important. It is actually one of the most important first-steps as it can clarify issues on transferability of the disease to children and the likelihood of having severe impairments on future descendants.

As regards this aspect, genetic counseling is highly advised for potential couples to determine the likelihood of passing on the disease. If your family has a history of the disease, genetic testing can help in giving you the basic knowledge about the disease and in assessing the possibility of your future children to inherit fragile X syndrome. Undergo all these interventions whether you yourself are affected or not.

What Can You Do at Home?

It is important that you know the things by which you can help. Do the necessary medical interventions and the non-medical therapies needed, but you must also seek to provide a good home environment.

It is important that you have different diagnoses of the problems so you would know what kind of home settings that can benefit your child’s condition. For example, if he is irritated with noise, provide a home condition conducive to quietness. Get to know your child’s exact condition and provide the necessary home remedies.


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    • thewritingowl profile image

      Mary Kelly Godley 3 years ago from Ireland

      Good Hub lammattadoran. I agree that testing and especially Genetic Counselling are both very important for the family who have carry the FXS gene. Unfortunately here in Ireland at present even accurate testing is almost impossible to obtain so I am certain most remain undiagnosed.

    • javid1985 profile image

      javid1985 4 years ago from USA

      Thank you Iammattdoran, I am sure you are not alone. Although Fragile X Syndrome is a common disease it’s not widely talked about.

    • Iammattdoran profile image

      Matt Doran 4 years ago from Manchester, UK

      Interesting hub. I wasn't aware of this before. Thanks for sharing this with us. Voted up. Matt