Fragile X Syndrome

 

What is Fragile X Syndrome ?

It is one of the major types of inherited mental retardation. Fragile X Syndrome is caused due to mutation or alteration of a particular that is passed down in families. Fragile X syndrome tends to affect individuals belong to every race and all economic classes.

The symptoms of fragile X syndrome result from the inability of the mutated gene to manufacture sufficient quantities of a protein that is required by the cells of the body, particularly the brain cells, so as to grow and function effectively. The severity of fragile X syndrome symptoms depends on the quantity and usability of the protein.

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Intelligence is the function that is most often affected by fragile X syndrome. A majority of the males with fragile X syndrome tend to have an IQ of 75 or less. Females with fragile X syndrome tend to elicit variable symptoms of the condition. A few females with fragile X syndrome may have learning defects and mental disability while other affected females may have normal IQ.

Individuals affected by fragile X syndrome also experience certain common physical abnormalities and medical problems. They may have a long face and long ears. Additionally, they may also experience behavioral, emotional and sensory problems.

Fragile X Syndrome Symptoms 

The signs and symptoms of fragile X syndrome vary greatly, even within affected individuals within the same family. The symptoms of fragile X syndrome are classified into five broad categories, which are discussed below:

  • Intelligence and learning:
    • A majority of the people with fragile X syndrome have compromised intellectual functioning, which poses difficulties in reasoning, thinking and learning. An IQ test result are not the most effective way to diagnose the presence of fragile X syndrome, as the IQ score can get affected by other conditions such as anxiety, attention disabilities, hyperactivity, etc.
    • The severity of intelligence deficiencies is lesser in females with fragile X syndrome as compared to males. They generally have normal IQ, with only one-third of the affected females having mental retardation. However, they may have learning disabilities in certain cases of academic achievement, wherein they may have impaired mathematical ability.
    • People with fragile X syndrome have good memories for visual patterns and pictures, but may face difficulties in organizing information, thinking about abstract ideas and problem solving
    • Social and emotional:
      • Men with fragile X syndrome tend to get easily upset, may not live changes of routine and get overly aggressive.
      • Boys with fragile X syndrome experience extreme social anxiety and are uncomfortable in new situations. This can result in speech problems such as interrupted, fast speech.
      • Females have lesser degree of social and emotional problems.
      • Physical symptoms
        • Young children with fragile X syndrome do not elicit any unique physical symptoms. A few may have a broad forehead, velvety, soft skin and a larger head as compared to other children of similar age.
        • As the children with fragile X syndrome grow older they may elicit distinctive symptoms such as larger and more visible ears, and longer jaw or face. Also, they have a shorter stature as compared to other members of the family as well as the general population.
        • With the advent of puberty, the males may develop enlarged testicles due to hormonal imbalance. However, sexual function is generally not affected by this.
        • The affected gene is also responsible for connective tissue function. Hence, individuals with fragile X syndrome may have problems of the connective tissue which can result in flat feet, and flexible, loose joints which enable them to extend the joints beyond the normal range of motion. Also, impaired connective tissue functionality can increase the risk to developing cardiac conditions such as heart murmur, etc., persistent ear infections and hernia.
        • Older adults with fragile X syndrome may develop tremors and face problems while walking
        • Speech and language:
          • Affected individuals may experience speech problems such as stuttering and pronunciation difficulties and language problems such as incorrect use of grammar.
          • Sensory:
            • Individuals affected by fragile X syndrome are increasingly sensitive to certain situations
            • Associated abnormalities:
              • Some of the conditions associated with individuals affected by fragile X syndrome are autism, premature ovarian failure, attention deficit hyperactivity disorder, seizures and connective tissue abnormalities

Causes of fragile X syndrome

Fragile X syndrome is caused due to mutation of a single known present on the X chromosome and known as Fragile X Mental Retardation 1 or FMR1.

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This gene is responsible for making a protein that provides instructions for normal growth and functioning of the various cells of the body. Mutation of the FMR1 gene results in decreased quantities of the protein which in turns leads to the development of the many symptoms of fragile X syndrome

Fragile X Syndrome Treatment

There is no cure for fragile X syndrome. The condition is treated as per the symptoms and is focused at alleviating the signs and preventing any medical complications. They include:

  • Special education for the affected children to facilitate their mental growth
  • Behavioral, physical, speech and occupational therapy to overcome the many behavioral, physical, language and speech, and skills deficiencies
  • Different medications may be prescribed by the doctors to treat the various associated disorders that accompany fragile X syndrome.

Fragile X Syndrome pictures

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