Down syndrome affects the normal physical development of a baby and can lead to mild or moderate learning difficulties. The condition is lifelong and develops in utero. Down syndrome can also lead to complications such as congenital heart disease, visual and hearing problems, and Alzheimer’s disease. The condition is evenly spread out over all ethnic groups. The causes of Down syndrome are not completely clear, but the age of the mother is often a contributing factor in the development of the condition.
Screening is carried out routinely during pregnancy. Should the screening process identify some signs of Down syndrome, counseling will be provided in order to allow the mother and/or her partner to make an informed decision. The outlook for those with Down syndrome will vary depending on the individual. For the most part, it depends on whether or not the individual develops any other complications related to Down syndrome. Children are most vulnerable during the first year of life. After one year of life, outlook will improve significantly for Down syndrome children. The average life expectancy for Down syndrome people is about 50 years.
Causes and types
Chromosomes are found in every cell in our body. They have an effect on the body’s cellular development, the color of a baby’s eyes and the sex of a baby. A healthy individual inherits twenty three chromosomes from each of their parents, totaling forty six. However, a Down syndrome child will develop an abnormality in the twenty first chromosome. There are also three different types of Down syndrome; full trisomy, mosaicism and translocation Down syndrome.
The extra copy of chromosome twenty one can lead to improper development of certain parts of the body. Chromosome twenty one contains at least three hundred genes, all of which play an important role in the development of the brain, heart and metabolism. The genes also help to regulate the metabolism.
Complications and problems
Those with Down syndrome are normally more likely to develop dementia, particularly the form of dementia known as Alzheimer’s disease. This disease attacks brain cells, neurotransmitters and nerves. Alzheimer’s disease leads to mood swings, speech problems, poor memory and confusion. About forty per cent of Down syndrome patients in their fifties suffer from Alzheimer’s disease.
There are several medications used in the management of the condition, including rivastigmine and donepezil. These medications can help to slow down the loss of mental function, but further research is required to Down syndrome patients.