What is Down Syndrome?

Down Syndrome or Down’s Syndrome is a pattern of congenital defects caused by an additional 21st chromosome. It was first documented in 1866 by John Langdon Down. The condition occurs in all races, and it has been specifically linked to maternal age. Risk for having a child with this condition tends to increase in mothers over the age of 35, and recent evidence also suggests that paternal age (age of the father) may also influence risk of the condition. About one in every 800 to 1,000 children are born with it.

There are a number of outwardly noticeable signs of Down Syndrome, like facial deformities. In fact, most children with the condition appear similar or related to each other, instead of resembling their own family members or racial groups. These individuals usually have a short stature, a flat nose, and large eyelids that create a sleepy eye appearance. The condition also causes mild to severe retardation.

Additional conditions may be present in the child with this genetic disorder. These include congenital heart defects, especially ventricular septal defects, gastroesophageal reflux, thyroid disease, and sleep apnea. Children are also at high risk for chronic ear infections.

There is no cure for Down Syndrome. Those who are minimally affected mentally may live quite normal lives and may, in many cases, be able to pass high school or to train for work. Most kids and adults with this condition are noted for their affectionate and cheerful personalities, though this can be worrisome for parents because kids and adults may openly trust anyone.

It used to be the case that kids and adults with this disorder were institutionalized after birth. This is now often viewed as exceptionally cruel treatment. In virtually all cases, a child can, with therapy and help, be integrated into normal schools and normal home life. Many programs for adults with Down Syndrome have emerged to help adults live independently of their parents, often in small, group home settings.

The genetic disorder can be diagnosed prenatally, usually through amniocentesis, when fluid from the uterus is extracted and its genetic components analyzed. This method of diagnosis has led to controversy, since parents are sometimes given the option to have a therapeutic abortion when they learn their child has the condition.

Naturally, many parents do not choose to abort children with Down Syndrome. They may merely choose to have amniocentesis done for the purpose of readying themselves if a child does have any genetic conditions that will require extra care. This early preparation can be extraordinarily helpful, since greater stimulation, teaching, and therapy can have a positive effect on intellectual ability of a child.