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 has been specifically linked to maternal age. Risk for having a child with Down Syndrome 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 1 in every 800 to 1000 children are born with Down Syndrome.
Down Syndrome tends to cause outwardly noticeable defects like facial deformities. In fact, most children with Down’s appear similar or related to each other, instead of resembling their own family members or racial groups. People with Down’s usually exhibit short stature, a flat nose, and large eyelids creating a sleepy eye appearance. Down Syndrome also causes mild to severe retardation.
Additional conditions may be present in the child with Down Syndrome. These include: congenital heart defects, especially ventricular septal defects, gastroesophageal reflux, thyroid disease, and sleep apnea. Children with Down Syndrome 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. Down Syndrome kids and adults 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 Down Syndrome were institutionalized after birth. This is now often viewed as exceptionally cruel treatment. In virtually all cases, a Down Syndrome 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.
Down Syndrome can be diagnosed prenatally, usually through either amniocentesis, when fluid from the uterus is extracted and its genetic components analyzed. This method of diagnosis for Down Syndrome has led to controversy, since parents are given the option in the US to have a therapeutic abortion when they learn their child has Down Syndrome.
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 for the Down Syndrome child can have a positive effect on intellectual ability.
Written by Tricia Ellis-Christensen
