March 25, 2010

Diagnosis & Causes of Down Syndrome in Children

Posted in Category : Common Ailments

Down syndrome is a condition that is caused by a genetic defect in one of the human chromosomes. It results in the birth of a child that is physically deformed with typical Mongoloid facial characteristics, deformities in the limbs, and results in mental retardation. These are just the more visible aspects. Most Down syndrome patients tend to be predisposed to neuro-degenerative diseases like Alzheimer’s and dementia – if they ever live past the age of 40. They are also susceptible to congenital heart defects. Down syndrome is one of the leading reasons for abortions throughout the world and one of the major reasons for this occurring is delaying the decision to have a child. The chances of a woman in her twenties bearing a child with the problem are one in a thousand which increases when a woman is in her forties to one in nineteen.


The exact causes of Down syndrome lie in the duplication of one of the genes in one of the human chromosomes. This can be detected early through the invasive tests called amniocentesis and Chorionic Villus Sampling (CVS). These tests are conducted by inserting a needle into the uterus from the abdomen and taking a sample of the amniotic fluid. The possibility of genetic defects can then be checked in a lab by analyzing the cells and proteins within the amniotic fluid. Once a child with Down syndrome is born, there is nothing that can be done to treat the condition and management of the disease is the only thing that can be done. Problems for parents start from the point of even getting the child to walk. Normal children are usually able to walk by the age of four but Down syndrome patients may take as long as till four years of age. Issues beyond that tend to be no different than for other children that age. Learning difficulties usually don’t manifest themselves during this time but the lack of complete cognitive abilities is apparent after a certain age.

Most people affected with Down syndrome have to be cared for for life. The average life expectancy of a patient with Down syndrome does not exceed 40 years of age due the number of health problems that are associated with the disease. Alzheimer’s and other neuro-degenerative diseases end up being a major killer. This reflects a newer trend since the figures for life expectancy were as low as 20 in the 80s.