Down's syndrome is one of the commonest Chromosomal disorders one can find. Usually this condition is suspected when doctors find out that the new born child is having characteristic features suggestive of down's syndrome at the neonatal examination. Antenatal screening techniques can also be used to screen for this condition before the child is born.
A normal Human contain 23 pairs of chromosomes. For the normal development and function, a person needs both pairs of chromosomes. Having less number or having additional chromosomes or parts of chromosomes can lead to impaired development, growth and function. Down's syndrome occurs when some one has additional "chromosome 21" or additional parts of it.
When parent's get to know that their baby is having a condition that will impair the development, growth and the intelligence of the baby, they are invariably depressed and undergo tremendous agony. Thus it is important that medical professionals caring for the baby is aware and sensitive to the parent's emotions.
After being suspected of having downs it can be confirmed by karyotyping or by genetic studies like FISH (florescent in-situ hybridisation). Once diagnosed we have to be vigilant about the problems these babies can have.
These babies are at a higher risk of developing congenital cardiac anomalies, congenital hypothyroidism, duodenal atresia and hirshprung's disease. (check out the post on congenital hypothyroidism). It is important to diagnose these conditions early and treat as necessery.
Later children with down's sydrome can develop learning difficulties and it can take more time for them to develop their motor skills (sitting, walking, ect). They are also at the higher risk of developing haematological malignancies.
There are many parent groups and non-governmental organisations to help parents and children with down's syndrome who can guide the parent's in the right direction as well as share their experiences and to motivate them to take care of the children with down's syndrome.




