Live Life Team
Down’s syndrome is a condition that occurs when the child is born with an extra chromosome present from birth and is a lifelong problem generated by genetic disorder. At the time of conception, a baby inherits genetic material in the form of chromosomes which is 23 chromosomes from each parent totalling to 46 chromosomes. When due to a fault caused by 21 chromosome the baby inherits two 21 chromosome instead of one, making a tally of total 47 chromosomes instead of 46 chromosomes, it creates a genetic unbalance which affects the mental and the physical characteristics in the child. This is referred to as Down’s syndrome. It was first identified by Doctor John Langdon Down and hence this condition is named after his name.
In UK one in every one thousand babies are born with Down’s syndrome every year. In 1950 average life expectancy of persons with Down’s syndrome was 15 years which has increased to 60-65 due to better medical facilities available though there is no cure for this.
DOWN SYNDROME SYMPTOMS
Affect on physical appearance may vary from person to person depending to what extent he is suffering. Some of the typical features of Down Syndrome are:
Slanting eyes usually upward
Ears which are small in size
Head with a flat back
Tongue protrudes
Mouth size is small
Nose bridge is flattened
Brushfield spots- white spots on the eyes part which is coloured
Fingers are generally short
A single crease right across the palm with broad hands
On the back of the neck presence of loose skin
In between the inner eye corner and the upper eyelids a vertical fold of the skin(epicanthic folds)
Floppy babies or having loose joints
Muscle tone being very poor
Birth weight being very low
Categories of Down syndrome
There are three different faults of 21 Chromosome resulting in three different categories of Down syndrome which are as follows:
Normally there are two copies of chromosome 21 in each cell of our body, but where all the cells of the body contain an extra chromosome 21 it is called Regular Trisomy 21 Down’s syndrome This type of syndrome is found in 94% cases of Down’s syndrome.
When the extra chromosome 21 material fixes itself with another chromosome it is called Translocation which is found in 4% of Down syndrome cases.
When some of the cells and not all the cells in the body have an extra copy of chromosome 21, it is Mosaic Down Syndrome which is a milder form and is found in 2% of persons.
After Birth Diagnosis
Physical appearance is the initial basis for diagnosing the newly born baby for Down syndrome like head with a flat back or eyes having upward slant
Chromosomal karyotype is a blood test which analysis the chromosome in the blood. A blood sample will be taken of the baby and laboratory testing can reveal if there is the extra 21 chromosome resulting in Down syndrome.
