What's Down Syndrome?

This morning, a darling little girl with Down syndrome, a student in our preschool, stood outside our administrative offices and told us all story after story. Some of them involved dancing, some were action-packed, some were simply explanatory. We didn’t understand most of the words that streamed from this animated little performer, but we knew what she was talking about, because: personality.

Increasingly visible in the media today, Down syndrome is quickly becoming one of the most instantly recognizable developmental diagnoses in the United States. But how much do we really know about it?

This post will help to answer some basic questions about Down syndrome. The more we know, the more we can do to promote the welfare of the community of people affected by this syndrome.

So What Is Down Syndrome?

The simple answer is that Down syndrome is a genetic chromosomal disorder.

Our bodies are made up of cells, and those cells construct our bodies based on the blueprints of genetic material found on our chromosomes, in the nucleus of the cell. Typically, every cell in our bodies will carry 23 pairs of chromosomes in its nucleus. One set is inherited from each parent, and each chromosome lines up with its match inside the nucleus, until a marching platoon of chromosomes is ready to build a human being.

Down syndrome occurs when one of those chromosomes (not to name names, but *cough* chromosome 21 *cough*) brings a buddy: a full or partial extra copy of chromosome 21 in some or all of a person’s cells.

In 1866, John Langdon Down published a scholarly work describing his work with a patient who had Down syndrome. His was the first physician’s study of the syndrome that designated it as a distinct condition all its own, with common characteristics and effects. This work is why the syndrome now bears his name, and why some refer to Down as the “father” of the syndrome.