Fragile X Syndrome

‘Fragile X syndrome’ is also known as Fragile X. It is the most common genetic form of mental retardation. It occurs due to changes in a gene which is passed on from one generation to the other. It can affect people belonging to all income levels and ethnic groups.

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Symptoms

The symptoms of Fragile X syndrome mainly occur due to the inability of the mutated or changed gene to create sufficient protein that is required and essential for the cells, particularly brain cells, for its development and proper functioning. The severe consequences of this syndrome depend upon the quantity and usage of this protein in fractions. Some of the signs and symptoms of this syndrome include:

  • Mental retardation
  • Difficulties in speech and language
  • Delay in speech and language
  • Delay in crawling, walking
  • Impulsive behavior
  • Unusual habits like hand clapping or hand biting
  • Tendency to avoid eye contact
  • Large forehead or ears with prominent jaw
  • Soft skin
  • Large body size
  • Large testicles, after the start of puberty
  • Flat feet
  • Large head circumference in babies
  • Subtle differences in facial features
  • Flexible joints and low muscle tone
  • Excess shyness may be the only disorder noticed in females

In some affected individuals, a majority of these symptoms may be present from the time the child is born, whereas other patients may develop it post puberty.

Fragile X syndrome affected individuals who experience mild anomalies in the FMR1 gene may not suffer from mental problems; however they can have other health issues. Females with some major genetic errors can have early menopause or experience problems in becoming pregnant. Both men and women patients can have anomalies such as quivers and limited or bad communication.

Causes

The cause for Fragile X syndrome is mutation in one gene, the Fragile X Mental Retardation 1 gene, or the FMR1 gene. It is present on the X chromosome. This results in mental retardation.

Mental retardation is further linked with more than five hundred different conditions. Some of them include Down syndrome, and phenylketonuria.

The Fragile X Mental Retardation 1 gene

Fragile X syndrome is caused due to mutation in a gene known as ‘FMR1’. Repetition of a tiny portion of the gene code on a fragile area of the X chromosome creates this problem. The level of repetition determines the severity of the syndrome.

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  • The FMR1 gene produces a protein required for proper growth of the brain. Due to the presence of defects in the gene, the body is unable to make the necessary amount of protein and sometimes can produce nothing.
  • Males and females, both suffer from this syndrome. However, males only have a single X chromosome and hence are more likely to suffer from severe cases of Fragile X syndrome. A person can suffer from Fragile X syndrome even though the parents are not affected by the genetic abnormalities or mutations.

Diagnosis

Fragile X syndrome is diagnosed through study of the number of repetition of CGG and the position of methylation; this is done through southern blot analysis and restriction endonuclease digestion method.

Treatment

There is no known cure for Fragile X syndrome. Expert guidance and teaching helps the patient to do as many tasks as possible, on their own. There are many medications in the market that claim to treat the condition. However, there is no sufficient evidence to support this claim.

Currently, there is no specific cure for Fragile X syndrome. Still there is expectation that further studies of the causes of this syndrome will help to form new therapies. Presently, some treatments such as behavioral therapy, expert education, treatments of physical abnormalities are helpful in treating the effects of this syndrome.

Genetic counseling is recommended for those people who have relatives with history of the condition, so that they can study and understand the possibility of conceiving children with Fragile X syndrome, as well as prepare themselves for the consequences.

Different types of treatments such as the correct education, various forms of behavioral and physical therapies, and medicines can help to reduce and lessen the signs and symptoms of the syndrome. Persons with severe mental retardation can also study and become independent by adopting self-help skills.

Quick action and fast response at the earliest is a necessary element for the optimum development of a child with this issue over a long period of time. The earlier a child starts to receive assistance, the more are the chances of the patient being able to grasp and study things, efficiently. When a child is young, its brain is still in the developmental stages. Therefore, early action can make the child understand and grasp more things. This results in full development to the maximum, giving the child a good beginning. If your child has been diagnosed with Fragile X syndrome, then parents do not need to worry unnecessarily. You can start the treatments right away for best results.

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