What is Down syndrome?

Down’s syndrome is a common type of genetic disorder which starts when a baby is still in the womb, and there is no cure for it. It causes delay of baby's normal physical development and also affects mental development. In addition, it incre

Dr Poonam Sachdev
Written by: Dr Poonam SachdevUpdated at: Jan 22, 2013 11:12 IST
What is Down syndrome?

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Down’s syndrome is a common  genetic disorder that was first recognised by John Langdon Down in 1866. The syndrome is named after him. It is a disorder which starts when a baby is still in the womb and there is no cure for it.

Down’s syndrome is known to occur in all ethnic groups equally. It is slightly more common in boys compared to girls. Down’s syndrome is a genetic disorder but what causes the baby to develop this genetic defect is unclear. Age of the woman at which she gives birth is the single biggest risk factor for the condition. The risk is higher with her advancing age when she delivers the baby (the older the mother higher the risk of her baby having Down’s syndrome). The risk is greatest in women who are 45 years of age or over (1 in 30).

Down’s syndrome causes delay of baby's normal physical development and also affects mental development (this may cause moderate to severe learning difficulties). It increases the risk of developing several other conditions, some of which can be life-threatening. Some of the disorders which are common in a child with Down’s syndrome include:

  • Congenital heart disease—Children with Down’s syndrome are at a higher risk of having congenital cardiac problems (birth defects that affect the heart).
  • Sight problems (such as squints, ‘lazy eye’ (amblyopia), eye infections and cataracts )
  • Hearing problems.
  • Speech and language problems.
  • Alzheimer’s disease – a common cause of dementia (a deterioration of mental abilities, such as memory and reasoning) in people who are over 65 years of age.

Screening can help to identify if the baby has Down’s syndrome. But screening tests are not 100% accurate. Even if the test is negative, there is a risk that the baby might have Down’s syndrome. Screening for Down’s syndrome is recommended in all women during pregnancy, in order to identify women who are at high risk of giving birth to a child with Down’s syndrome. If screening tests is positive for Down’s syndrome, other tests may be done to confirm if the baby has Down’s syndrome. The parents are counselled so that they can make an informed decision about whether to terminate or proceed with the pregnancy.

If you have a child with Down’s syndrome, treatment will include intervention programmes for disabilities and learning difficulties; physiotherapy, cardiology check-up, speech therapy, occupational therapy, and ophthalmology consultation. Appropriate management can help a child with Down’s syndrome lead a healthy, active and more independent life.


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