Introduction:
Fragile X syndrome (FXS) is a genetic disease that gets inherited from parents to children. It affects the intellectual ability and development of the child. The other name for the same condition is "Martin-Bell syndrome."
According to reports, it is the most commonly noticed hereditary cause of mental disability in boys. The incidence rate is 1 in 4000, and girls are comparatively less affected as the incidence rate is 1 in 8000 girls. The symptoms are also more in boys than girls. Patients suffering from this syndrome more commonly have learning and developmental issues. It is a chronic disease that makes it a lifelong condition sometimes. Reports show that only a few people having this syndrome can live on their own.
What Are the Signs and Symptoms of FXS?
As mentioned earlier, it can lead to difficulty in learning, delay in various development of the body, behavioral and social issues. The disabilities can extend from mild to severe. Boys can show more issues with intellectual disability. Girls tend to have some level of intellectual disability or learning disability, or they can have both, but many of them suffering from fragile X syndrome have shown normal intelligence.
Following are the signs and symptoms that patients diagnosed with FXS may show:
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Delay in various developmental milestones. They can take more time than considered normal to walk, sit, or talk when compared to other children of the same age.
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Anxiety can be general or social.
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Stuttering.
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Learning or intellectual disabilities.
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Difficulty in paying attention or concentration issues.
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Issues with socializing.
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Fits or seizures.
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Difficulty sleeping.
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Hyper activeness.
Some patients suffering from FXS may show physical abnormalities, which can be as the following:
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Prominent jaw.
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Presence of a large-sized forehead and ears.
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The face may look elongated.
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Protruding chin.
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Joints can be flexible or loose.
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Presence of flat feet.
How Is Fragile X Syndrome Caused?
FXS is known to be caused due to a genetic defect wherein there is a defect in the FMR1 gene, which is located on the X chromosome. A sex chromosome are of two types, namely X and Y. Women's genetic constitution of sex hormones is double X, and for men, it is one X and one Y.
The presence of a mutation or any defect on the FMR1 gene leads to improper or prevention of formation of a protein known as the fragile X mental retardation 1 protein. This protein has an important role in functions associated with the nervous system. The exact role and function of this protein are still under study. When there is an absence or lack of this protein in the body, it leads to the symptoms of FXS.
Can Carriers Have Any Health Risk?
Yes, a carrier can have an increased risk of developing certain medical conditions. If you are a carrier or your child has this syndrome, consult your physician to get early management.
Carrier women have an increased risk of developing premature menopause or menopause before the age of 40. Carrier men have the risk of developing fragile X tremor ataxia syndrome (FXTAS). FXTAS leads to the development of a tremor which gets worse with time. This can affect the person's balancing and walking abilities. These men are also at a high risk of developing dementia.
How Can Fragile X Syndrome Be Diagnosed?
If children have delayed milestones and certain features of FXS syndrome, it is advisable to visit your physician for an assessment of this syndrome. In case there is a family history of FXS, the child can be tested for the same.
When you visit your physician, you will be asked for personal, medical, and family histories of the child and the signs and symptoms being faced by the child. A DNA blood test called the FMR1 DNA test can be used to diagnose FXS. This test helps in checking for the presence of any changes in the FMR1 gene, which are known to be associated with FXS. On average, boys get diagnosed at the age of 35 to 37 months and girls around 40 to 42 months. Depending on the diagnosis, further testing and treatment planning will be done by your physician.
How Can Fragile X Syndrome Be Treated?
There is no exactly known cure for FXS. The main aim of the treatment is to aid people in learning social skills and key language. Other professionals who can be involved in this purpose as a team are teachers, family members, therapists, doctors, and coaches.
As these children or patients may have behavior disorders like attention deficit disorder (ADD) or anxiety, certain medications may be prescribed to them for the same as the following:
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Methylphenidate.
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Clonidine.
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Guanfacine.
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Selective serotonin reuptake inhibitors (SSRI), like Sertraline, Duloxetine, Escitalopram, and Paroxetine.
Consult your doctor before taking any of these medications.
What Is the Long-Term Outlook for Such Patients?
As already explained, FXS continues for life, and thus, it can affect day-to-day activities like work, school, social life, etc. Some women and men have been able to cope-up with it and have finished schooling and some basic degrees. In case you think you can be a carrier for Fragile X permutation, you can ask your doctor to carry genetic testing. This will help in understanding the risk and also helps with early diagnosis and treatment planning which can improve the prognosis.
Conclusion:
Fragile X Syndrome is a genetic condition that mainly affects milestones and intellectual abilities along with certain physical disabilities. Although it cannot be completely treated, early help to the patients can improve their quality of life. In case you are doubtful about being a carrier or your child is showing certain symptoms of FXS, you can consult a physician to get the required testing and diagnosis.
Online medical platforms have made consulting a physician or specialist easy by reducing the physical distance digitally. To know more about this condition, consult a physician or specialist online.
