Fragile X Syndrome: Symptoms, Diagnosis, and Treatment

Fragile X syndrome is a genetic disorder, also known as a martin-bell syndrome. Fragile x syndrome can cause many symptoms like disability in learning, delay in development of the child and the problems associated with behavior.fragile-symptoms-diagnosis

There are some physical changes also by which we can diagnose; like long and narrow face, large ears, flexible fingers, and sometimes large testicles. Hyperactivity is common in this disease and males are usually more affected than females.

The cause of fragile x syndrome is due to the expansion of the CGG triplet repeat within the FMR1 gene on the X chromosome.

Signs and symptoms 

Fragile X syndrome can cause learning disability, development delays, and social problems. In young children, there is almost no chance of physical signs of Fragile X syndrome. Physical signs generally appear during puberty. Common symptoms may include- elongated face, large or protruding ears, flat feet, larger testes, and low muscle tone. There can be an infection of middle ear and sinusitis.

  • Physical signs
    1. Large protruding ears.
    2. Long face.
    3. Flat feet.
    4. Soft skin.
    5. Low muscle tone.
    6. The Large size of testicles in men after puberty.
  • Intellectual problems – In this disorder there may be intellectual problems from normal intellectual quotient to severe intellectual disabilities; it is because of mutation in FMR1 gene that leads to low IQ about 40 in males. The main difficulty associated with intellectual problems is working and short-term memory, loss of verbal abilities.
  • Autism – Fragile X syndrome occurs with autism in many cases, and in some cases, it leads to autism. Because of this; if a child is diagnosed with autism, the doctor should have to do the test for Fragile X syndrome i.e. test for FMR 1 gene.
  • Social interaction problems.
  • Psychiatric problems.
  • Hypersensitivity and repetitive behavior.
  • Vision and neurological problems.
  • Infertility.
  • A person with Fragile X syndrome is at high risk of developing seizures.

Cause – It is a genetic disorder which occurs due to mutation of FMR 1 gene on the X chromosome and leads to increase in a number of CCG triplet.

Diagnosis 

There are many sensitive molecular techniques used to diagnose the disease. The Fragile x syndrome can be diagnosed by using polymerase chain reaction (PCR) to calculate repeated units of CGG triplet on X chromosome.

This disorder can also be diagnosed before the birth of the child by using techniques like chorionic villus sampling (it is for testing the FMR 1 gene).

Treatment 

There is no cure for this disease; we can manage some symptoms by using medications:

  • In case of seizures antidepressant and SSRI’s are used frequently.
  • Antipsychotic drugs like Risperdal and Seroquel are used.
  • Stimulant drugs are used very frequently like ADHD.

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