Causative & risk factors
The exact cause of the occurrence of Down’s syndrome is not known however higher the age of the woman at pregnancy, greater is the risk of the fetus developing Down’s syndrome.
At the age of 20, 1in 2000 pregnant women are at risk of having a baby with Down’s syndrome. This figure rises to 1 in 900 at the age of 30 and 1 in 100 at the age of 40 years.
A small number of cases of Down’s syndrome may have a hereditary component.
Clinical presentation
All children with Down’s syndrome have certain characteristic physical traits which include a flattened face and nose, eyes that slant upwards, spotting on the iris and small ears. These are usually short, have hypotonia (low tone) of muscles and small hands and feet. A single deep crease is present across the center of the palm.
Individuals with Down’s syndrome have a lower intelligence quotient (IQ) than their peers. They are also at a high risk of developing several other diseases and conditions involving the eyes, ears, heart, thyroid gland, intestines etc.
Investigations
All women are screened for the possibility of having a baby with Down’s syndrome by carrying out blood tests and an ultrasound of the fetus. Women who are at a higher risk need to undergo additional tests such as amniocentesis and chorionic villus sampling. These tests have 100% accuracy in the diagnosis of Down’s syndrome.
Once the baby is born, karyotype analysis and genetic tests are performed to confirm Down’s syndrome.
Treatment
The treatment of Down’s syndrome is focused on trying to get these individuals into living a normal social life and giving supportive measures for their symptoms. This can be achieved by providing adequate healthcare facilities combined with speech therapy, occupational therapy, physical therapy, counseling etc.
Recent updates
A new technique known as ‘Talktools therapy program’ has been developed to help individuals with Down’s syndrome who have significant speech difficulties.
Facts and figures
At the age of 20, 1in 2000 pregnant women are at risk of having a baby with Down’s syndrome. This figure rises to 1 in 900 at the age of 30 and 1 in 100 at the age of 40 years.
