Categories: Paediatrics

What is Down Syndrome?

What is Down Syndrome?

Down syndrome is a medical condition characterized by an extra chromosome. Typically, a person has 46 chromosomes.  People with Down syndrome have an extra copy of chromosome number 21. This extra chromosome is responsible for many mental and physical challenges that a patient with down syndrome faces.

A person with Down syndrome may have a lower range of IQ (a measure of intelligence). They usually show the following :

  • Flattening of face, especially the nose
  • Small ears
  • Slanting of eyes
  • Short neck
  • Tongue sticking out of the mouth
  • White spots on the iris of eyes
  • Small feet and hands
  • Poor muscle tone
  • Loose joints
  • Short height
  • Hearing loss
  • Obstructive sleep apnea or temporary cessation of breathing while asleep
  • Ear infections
  • Problem in eyes
  • Congenital heart defect

What are the different types of Down Syndrome?

Down’s syndrome is of three types. Chromosomal analysis is the only way to differentiate each type since physical features are similar.

Trisomy 21: This type of Down syndrome is characterized by three separate copies of chromosome 21 instead of two.

Translocation Down syndrome: It occurs when an extra part or entire additional chromosome 21, is attached to a different chromosome.

Mosaic Down syndrome: Mosaic means mixture. It occurs when some cells have three copies of chromosome 21 while other cells have the typical two copies of the same.

What are the causes of Down syndrome?

As we know, the extra chromosome 21 leads to Down syndrome resulting in peculiar physical features and developmental challenges in the people suffering from it. But the exact cause of this chromosomal abnormality is unknown. Mother’s age is one factor that may increase the risk of having a child with Down syndrome. Women older than 35 years are more prone to have a baby affected by Down syndrome as compared with women of lesser age.

How doctors can diagnose Down syndrome?

For diagnosing Down’s syndrome, there are two types of tests available during pregnancy:

Screening tests: It can tell the probability of a pregnant woman having a child with Down syndrome. Screening tests are safer for the mother and the baby in the womb. These tests often include:

  • Blood test (e.g., MS-AFP, Triple Screen, Quad-screen)
  • Ultrasound

Diagnostic tests: They can detect whether a baby will have Down syndrome or not. They can be riskier for the mother and the baby in the womb. They are usually performed after a positive result during screening tests. The diagnostic tests include:

  • Chorionic villus sampling (CVS)
  • Amniocentesis—amniotic fluid examination
  • Percutaneous umbilical blood sampling (PUBS)

Is there any treatment for Down Syndrome?

Down syndrome is a persisting condition.  Interventions early in life may help patients with Down syndrome overcome their physical and intellectual limitations. These interventions help in the development of children with Down syndrome to their full potential. Some of these interventions are:

  • Speech therapy
  • Occupational therapy
  • Physical therapy

Remember, a person with Down Syndrome does not need our sympathy, Every time we treat them differently, we let them down. This World Down Syndrome Day, let’s embrace the spirit of inclusion and look up to each person with respect and care.

Dr. Gaurav Jain | Consultant – Internal Medicine | Dharamshila Narayana Superspeciality Hospital, Delhi

Narayana Health

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