In some cases, babies born with Down syndrome are identified before birth as a result of pre-natal tests (either amniocentesis or chronic villus sampling). In most cases, however, the presence of the syndrome is indicated soon after birth because of the way baby looks.
A range of physical characteristics indicate that a baby may have Down syndrome.
▪ ‘Floppiness’ – due to reduced muscle tone (hypotonia)
▪ Facial features – like a flat facial profile and nasal bridge, a small nose, eyes that slant upwards and outwards and a small mouth cavity which makes the tongue appear large
▪ A big space between the first and second toe (sandal gap)
▪ A single crease across the palm (palmar crease)
▪ Below average weight and length at birth
▪ A significant number of babies will have congenital heart conditions that may or may not require surgery.
However, many of these features appear naturally in the general population and not all babies with the syndrome show all of these characteristics.
The only way to make a definite diagnosis of Down syndrome is to analyse the chromosomes in a sample of the baby’s blood. The resulting picture of the baby’s chromosomes is called a karyotype, and it shows the presence of an extra copy of chromosome 21 if the baby has the syndrome.
There is no ‘treatment’ or ‘cure’ to reverse the effects of the extra genetic material that causes Down syndrome. However, research over the last 20 years has taught us a great deal about how the syndrome affects individuals and how to promote development.