Fragile X Syndrome Causes, Symptoms, Diagnosis and Treatment

FRAGILE X SYNDROME

What is  Fragile X Syndrome?

Fragile X Syndrome (FXS) is an inherited genetic disease that is passed on by parents to children who cause mental and developmental dysfunction. It is also known as Martin-Bell syndrome.

Causes of Fragile X Syndrome

FXS is caused by a defect in the FMR1 gene located on the X chromosome. The X chromosome is one of two types of sex chromosomes. The other is the Y chromosome. Women have two X chromosomes, while men have an X chromosome and a Y chromosome.

The defect or the mutation on the FMR1 gene prevents the gene from correctly establishing a protein, the so-called fragile X-mental retardation protein. This protein plays a role in the functioning of the nervous system. The exact function of the protein is not fully understood. A deficiency or deficiency of this protein causes the symptoms characteristic for FXS.

Symptoms of Fragile X Syndrome

People with Fragile X do not all have the same symptoms but they have some things in common. The symptoms are often milder in women than in men.

  • Problems with the intellectual functioning such as learning disabilities or problems with mathematics,
  • Affect the ability to think, reason, and learn.
  • Attention deficit, hyperactivity, anxiety, and speech processing problems,
  • A narrow face, large head, large ears, flexible joints, flat feet and a protruding forehead.
  • Some behavioral problems anxiety or anxiety in new situations.
  • Difficulty making eye contact with other people.
  • Boys, especially, may have difficulties to be attentive or aggressive.
  • Girls can be shy about new people.
  • Attention problems and problems with hyperactivity.
  • Most boys with Fragile X have some problems with language and language. They may have difficulties to speak clearly, may stutter, or may omit parts of words
  • problems understanding the social aspects of other people, such as tone or voice or certain types of body language.
  • Girls generally have no serious problems with language or language.
  • Are bothered by certain sensations, such as bright light, loud noises, or the way in which certain clothing feels bothered by their bodies.
  • These sensory problems could cause them to act or show behavior problems.

Diagnosis of Fragile X Syndrome

Children who show signs of developmental delays or other external symptoms of FXS, such as a large head circumference or subtle differences in facial features at a young age, can be tested for FXS. Child  can also be tested if there is a family history of FXS.

FXS can be diagnosed with a DNA test, the so-called FMR1 DNA test. The test looks for changes in the FMR1 gene associated with FXS. Depending on the results, your doctor may choose to perform additional tests to determine the severity of the condition.

Treatment of Fragile X Syndrome

There is no single treatment for Fragile X syndrome, but there are treatments that help to minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate training, therapy services and medications have the best chance with all their individual abilities and abilities. Even those with an intellectual or developmental disabilities can learn to master many self-help skills.

By : Natural Health News


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