Fragile X Syndrome in Toddlers

Fragile x syndrome in toddlers

Parents need to be aware of the various development problems that the little ones face, one of these being the fragile X syndrome. Find out what the symptoms of Fragile X syndrome are and what you should do.

Fragile-X syndrome is a genetic disorder that is usually inherited. This syndrome affects the development of a child, especially his behaviour or his learning capability. A toddler suffering from this problem shows a discrepancy in physical development and finds it hard to communicate. The child might also be sensitive to loud noise and bright light.

Causes of Fragile-X Syndrome In Toddlers – What You Need To Know

Fragile-X syndrome is an inherited disorder and is associated with a variation in the FMR1 gene that is found in the X chromosome. In case of these mutations, the body fails to produce Fragile Mental Retardation Protein(FMRP), which is extremely helpful in the overall development of a child. The lack of this protein can cause Fragile-X syndrome in toddlers. There are a number of reasons that affect the production of this protein. These include:

  • Size of variation in the cells
  • Number of cells that are affected
  • Gender of the person

However, Fragile-X syndrome is not very widespread. Studies prove that 1 in every 4000 men and 1 in every 8000 women suffer from this.

What Are The Symptoms of Fragile-X Syndrome In Toddlers – Signs To Watch Out For

When it comes to looking for symptoms of Fragile-X syndrome, it has been seen that girls have milder symptoms than boys. Also, these symptoms can vary from one person to another. However, there are certain effects of Fragile-X syndrome in a 12-month-old baby and older children that are quite common.

  • Learning disabilities
  • Attention disorder
  • Hyperactivity
  • Fear of strangers and new places
  • Trouble in speaking clearly and fluently
  • Sensitivity to noise and bright light

With age, toddlers suffering from this syndrome could also develop certain physical attributes like a prominent forehead, large ears and a narrow face.

Diagnosis of Fragile-X Syndrome – How To Confirm

In order to diagnose a toddler with Fragile-X syndrome, doctors generally conduct a blood test. In mothers who exhibit mutations of the FMR1, a prenatal test can help to confirm whether these mutations have been passed on to the unborn child as well. The tests include:

  • Amniocentesis- In this, a sample of the amniotic fluid is derived and tested.
  • Chorionic Villus- In this test, the doctors scrape off a few cells from the placenta to test them.

Treatment of Fragile X Syndrome In Toddlers – What To Do

Unfortunately, there is no specific way to completely treat a toddler suffering from this syndrome. However, you can definitely minimise the symptoms with medication. Doctors have proved that children who get proper education, medical care and therapy can actually lead a normal life and master different skills.

Time and again, medical experts have stressed that early medical intervention is the best way to ease the symptoms of Fragile-X syndrome in a 12-month-old baby or an older toddler. Watch out for the symptoms associated with this syndrome. Rush your little one to the doctor in case you detect anything amiss.