Down Syndrome: Symptoms, Causes, Treatment

User Review
5 (1 vote)
(Last Updated On: July 9, 2016)

Down Syndrome, The nucleus is present in every cell of the human body, in which genetic matter is stored in the genes. These genes carry the codes responsible for all of our inherited traits and grouped along a rod-like structure called chromosomes. The nucleus contains 23pairs of chromosomes, half of which are inherited from the parents. These down is caused due to the extra copy of chromosome 21.

Thereby extra genetic material alters the course of development. Common characteristics of Down syndrome are muscle tone, an upward slant to the eyes.

Down syndrome Symptoms:

There is fact that not every person with this disease has the same symptoms

Body size and shape:

  • Short height

A child growth is very slow then compared to the normal children.

  • muscle tone is low (hypotension):

This disease will make belly muscle tone weak it can make stomach stick out.

  • Short neck

The neck regions have excess fat, and it will be short

Face symptoms:

  • Slanted eyes: there is small spot is present on the iris
  • Small ears: the small look small for the child
  • Irregular mouth and tongue:

The tongue of the child sticks out.

  • Irregular teeth

Other health problems:

  • Intellectual disability
  • Depression
  • Autism
  • Hypothyroidism
  • Heart defects

Down syndrome Types:

There are three types

  • Trisomy 21 (nondisjunction)

It is mainly caused due to the error in cell division called nondisjunction. It results with embryo with three copies of chromosome 21 instead of usual two. As it develops the extra chromosome is replicated in every cell of the body. This type of down syndrome constitutes about 95% of the cases.

  • Trisomy 21 (non-disjunction)


It is diagnosed when the mixture of two types of cells, some containing the usual 46 chromosomes and some other containing 47. Those cells 47 chromosomes contain an extra chromosome of 21.

It not common as above type, it constitutes about 1% of the cases of down syndrome.


In this, the total number of chromosomes in the cell remains? 46, the additional full or partial copy of chromosomes 21 is attached to the chromosome 14. The presence of extra copy causes down syndrome. This type constitutes about 4% of total.

Down syndrome Causes:

The main cause of the extra partial or full chromosome 21 is still unknown. The maternal age is one of the factors has been linked to the increased chances of having a child with this disease.

There is no certain evidence that this disease is caused by the environmental factors or the parents activities before pregnancy.

The additional partial copy of the chromosome 21 is originated from the mother, but only 5% have been traced from the father.

Down syndrome tests:

There are two tests for this disease.

  • A screening test:

This can show the chances of the child have the disease.

If the result of this is positive, it means the baby more prone to the down syndrome and if the test is negative although the baby has the chances of getting the disease.

  • A diagnostic test

This test will reveal that your child having the chances of getting this disease.

The decision to have a test is yours.

Diagnosis after birth:

  • Physical exam
  • Blood test
  • Karyotype test

Down syndrome Treatment:

There is no cure for this disease, but early treatment can help to live a productive life. Children with this syndrome can benefit with the speech therapy. and exercises with improvising motor skills.

It is beneficial that supply of amino acid supplements and the drugs known as piracetam*. It is a belief that it will improve the ability of the brain.

For more information click here

Leave a Reply