Fragile X Syndrome

Fragile x syndrome refers to a genetic condition that causes learning and behavioral challenges, intellectual disability as well as different physical characteristics. Although this condition occurs in both males and females, it frequently affects males than females. It also has greater severity in males. The life expectancy of individuals that have this condition is not affected since it does not have life-threatening health issues. This syndrome is one of the most common inherited mental retardation causes in males. It also causes significant cases of mental retardation among females. About one in 4,000 males as well as one in 8,000 females are affected by this condition. It affects people in all ethnic and racial groups.

What causes fragile x syndrome?

Almost all cases of this condition are caused by FMR1 gene defect. This gene is situated on X chromosome. X chromosome is one of the human sex chromosomes. Y is the other sex chromosome. There are two X chromosomes in females while males have one X chromosome and a Y chromosome. The defect or mutation of the FMR1 gene makes it impossible for the gene to make protein known as the fragile X mental retardation 1 protein properly. This is a vital protein that facilitates proper nervous system’s functioning. The exact role of this protein is yet to be understood fully. A shortage or lack of this particular protein is what causes signs or symptoms that characterize this syndrome.

How is this syndrome diagnosed?

This syndrome is diagnosed by examining individuals for its symptoms. Children indicate development delay signs or other signs like a large circumference of the face and subtle variations in the facial features. Blood test that uses DNA can be conducted to determine whether a child has this syndrome. This test is known as FMR1 DNA Test. The aim of this test is to find out whether FMR1 gene has changes that are commonly associated with this syndrome. Male children with this condition have loose joints and their testes are larger after puberty. Boys with this condition also have behavioral issues that include hand flapping, temper tantrums, autism, hand biting and hyperactivity. Other signs among males after puberty include distractibility, pulse control problems and poor eye contact. Physical symptoms may include orthopedic, skin and heart problems. Girls indicate mental retardation which is generally mild.

How is fragile x syndrome treated?

There is no cure for this condition. The treatment that patients get aims at enabling them to learn important skills like how to interact properly in the society and how to use a language. This entails getting extra assistance from family members, therapists, teachers, coaches and doctors. Most of these services are available in community health facilities and they are aimed at helping children learn vital skills that will enhance their development. Medications that are prescribed are typically for the behavioral disorders that accompany this condition. Such disorders include attention deficit disorder and anxiety among others. It is important to note that this is generally a life-long condition that has the ability to affect every aspect of the life of a person including work, social life and schooling.

Common supportive therapy for this condition includes:

• Special anticipatory management and special education that include avoiding excessive stimulation in order to reduce behavioral problems.
• Early intervention and special vocational training.
• Medication that is aimed at managing behavioral issues. However, no specific medication is proven to benefit patients.
• Hearing, vision, heart problems and connective tissue issues are treated in a usual manner.

Most men with this condition require help with their daily activities. Fewer males with it study to a level of achieving high school diploma or even securing full-time work.

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Sources

https://fragilex.org/fragile-x/fragile-x-syndrome/

http://www.healthline.com/health/fragile-x-syndrome#Overview1

https://www.genome.gov/19518828