Language and Down's Syndrome

In 1866, a London physician, called John Langdon Down, started to make first steps in investigating a phenomenon, well-known today, under the term Down’s syndrome. Down, being the pioneer in this field of study, introduced the term Mongolism due to the fact that individuals suffering from this disorder seemed to resemble people from a specific region in Asia. (cf. Warkany 1975: 9-10) His research led to the wrong conclusion that patients were dealing with a form of racial deviation. Down suggested the syndrome to be an indicator for a putative regression towards an evolutionarily earlier form – a somehow primitive racial type. (cf. Tamm 1994: 12) In this paper, the term Mongolism will not be used due to political correctness. Instead, Down syndrome and Trisomy 21 will be used interchangeably.

In the following 93 years, several other theories with regard to Down’s syndrome became object of research by a number of scholars. Among them were many misconceptions such as Alcoholism, Syphilis and Tuberculosis, to name only a few, which were regarded as the determinants for the condition. Even social differences came into consideration until it could be proven that cases of Down’s syndrome occurred in any social class regardless of nationality, ethnicity etc. However, scholars realized quite quickly, that older women were more likely to give birth to a child with Down’s syndrome, than it was the case with the younger ones. Nevertheless, many misconceptions were drawn such as maternal worries, exhaustion by many pregnancies etc. (cf. Warkany 1975: 10-11) Finally, in 1959, Lejeune and his co-workers made an amazing observation, when analysing the tissue cultures of nine Down’s syndrome patients. To be more precise, they discovered that all of the subjects showed 47 chromosomes in their cells instead of the usual 46. (cf. Warkany 1975: 13)

Usually the nuclei of human body cells contain 46 chromosomes. Two of them are crucial for the determination of sex (XX for women, XY for men). Normally, the other 44 chromosomes form pairs of two, one chromosome coming from the mother and the other from the father. Individuals suffering from Down’s syndrome show a deviation in this aspect with reference to the chromosome 21. The genetic information of this particular chromosome is not only present in a pair as it is usually the case, but it turned out to be tripled in most or all body cells. Hence, this led to the denomination Trisomy 21. (cf. Tann 1994: 14) Even though Trisomy 21 is known as the by far most frequent type of Down’s syndrome, there are other forms of this disorder such as the Translocation Down’s syndrome and the Mosaicism. (cf. Donnel et al. 1975: 20,25) Nevertheless, the impact on learning development does not vary very much among these different types. (cf. Buckley 2000: 9) For further depth consult Donnel et al. (1975). However, even though a lot of research has been done until today, the causes for the occurrence of Trisomy 21 have not been found. Maternal age turned out to be a major factor but recent research has shown that also paternal age seems to have an impact on the condition. (cf. Tann 1994: 15)