14 Jun /13

Down’s syndrome

Having worked in the family apothecary, John Down wanted to be a chemist, but in the middle of the 1800s, this was a virtually impossible career option. So he took up medicine, doing research in what then was the virtually unknown world of idiocy. After his studies he worked in an asylum and in 1866, published a research paper called Observations on the Ethnic Classification of Idiots in which he categorised types of idiocy. Subsequently, he even set up a private facility for the retarded. He is famous for his description of the “Mongolian type of idiot” which has become known as Down’s syndrome. People with the condition are sometimes referred to as Mongoloids.

It was 100 years later that Down’s syndrome was recognised as a mutation of chromosome 21 which is the most common abnormality in chromosomes for human beings. Key features of Down’s syndrome are mental retardation, a delay in physical growth and a particular set of facial characteristics.