What is Down’s Syndrome?

Down’s Syndrome –

Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. Down syndrome is a naturally occurring chromosomal arrangement that has always been a part of the human condition, being universally present across racial, gender or socio-economic lines, and affects approximately one in 800 births worldwide, causing intellectual and physical disability and associated medical issues. Down syndrome, is a condition that is present at birth, which affects the body’s physical and mental development.

Normally, a child inherits two copies of chromosome 21 – one from each parent. If a child inherits an extra chromosome 21, the child will have Down syndrome. Because Down syndrome usually affects every cell in the body, people can have a variety of medical problems.

Common Features-

While no two people with Down syndrome are exactly alike, they do share some common physical features. Babies with Down syndrome have similar facial features, tend to have lower muscle tone, and typically learn to walk and talk slightly later than other children.

Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:-
● A slightly small head that is flattened in the back;
● Up-slanted eyes;
● Extra skin folds at the inner corners of the eyes;
● Small ears, nose and mouth;
● Short stature;
● Small hands and feet…and
● Some degree of intellectual disability.

How to Diagnose –
The most recent ACOG (American College of Obstetrics and Gynecology) guidelines say that prenatal screening for Down syndrome should be offered to all women – not just women over age 35. There are two categories of tests:

1) Screening tests try to identify babies that might have Down syndrome, but these tests cannot tell for sure, they can only tell if your baby is at increased risk of Down syndrome. Screening for Down syndrome should occur before the 20th week of pregnancy. Screening tests include:

● Second trimester (serum) screening (sometimes called a “triple screen” or a “quad screen”) to check for certain substances in the mother’s blood.
● First trimester screening (early ultrasound and serum screening).
● Second trimester ultrasound.

2) Diagnostic tests used to be offered mainly to women who will be over age 35 at delivery, who received an abnormal result on a screening test, or who are anxious due to a prior pregnancy. The newest ACOG guidelines recommend that all pregnant women, regardless of age, should have the option of diagnostic testing. Diagnostic tests require a sample of cells from the fetus. Tests include:

● Chorionic villus sampling (CVS), usually performed between 10 and 12 weeks, involves taking a sample of chorionic villus cells from part of the placenta that contains fetal cells.

● Amniocentesis, usually performed after 15 weeks, requires the removal of fetal cells from the amniotic fluid that surrounds the baby. In both cases, the cells are sent to a lab for analysis. Amniocentesis, usually performed after
15 weeks, requires the removal of fetal cells from the amniotic fluid that surrounds the baby. In both cases, the cells are sent to a lab for analysis.

Treatment-
Down’s Syndrome cannot be cured. There is no medicine nor treatment that can eliminate the existence of the extra chromosome. However, it has now been found that early intervention and training in fields of speech and play can help this child being, accepted by other parents and children when the child reaches the age for admission into a play group or nursery.