Down syndrome

Down syndrome is not a disease but a genetic condition; people who are affected have different physical characteristics from a most human beings. At present the scientific data say there is one in 3,000 births.

History

In England in 1800, people were not interested in these "crazy" people. When the cases became more frequent, however, came the first asylum for the mentally ill, the Bethlhem Royal Hospital. Those who had these problems were brought in country places, to prevent infecting other people.

John Langdon Down was the first scholar to give an identity to the characteristics he had noticed in these people. At the end of the studies he said they were a subspecies of the human population.

Types of Down Syndrome

Trisomy (90%)

Each cell contains an extra chromosome 21.

Translocation (6%)

There is an extra chromosome attached attached to another (usually 14).

Mosaicism (4%)

Some cells have 21 chromosomes 2 more.

Physical characteristics of those affected

• almond-shaped eyes with epicanthic folds on the inner corners
• small head
• round face and nose a bit "flat"
• wide neck
• mouth and small ears
• large and protruding tongue
• hands short and wide
• stature below average

Health

People with Down syndrome endure several types of health issues:

• heart defects
• problems with vision, hearing, thyroid, teeth
• obesity
• faster aging

Their fertility is lower than average people:

• Men:
  • lower production of sperm
• Women:
  • 70% of women are fertile
  • risk of having children with Down syndrome

Lifespan

In 1950, people with Down syndrome had very short lives, between 12 months and 10 years. Since then, the average life span has increased 50 years thanks to the better quality of life and to cardiac interventions.

Sources

• Part of this article is translated from Sindrome di Down on Vikidia in Italian.