Down Syndrome

In 1866, the medical superintendent of the Earlswood Asylum for Idiots in London, Dr. John Langdon Haydon Down, published a paper describing some of the characteristics of Down Syndrome, which today bears his name. He reported Observations on the ethnic classification of idiots, that established the eponym, and misguided the following generations of scientists and physicians. His diagnosis of idiocy became a self-fulfilling propesy, for most patients languished in institutions lacking adequate educational and medical programs. Now more than one hundred years later, we refer this condition as Down Syndrome, and have higher expectations both medically and educationally for these children.

Down syndrome is a chromosomal disorder affecting about 1-1000 live births and usually causing delays in physical and intellectual development. These delays are due to the presence of additional genetic material in the cells. Instead of having 46 chromosomes in each of their cells, a person with Down syndrome has 47 chromosomes. The extra chromosome is a number 21 which may come from either the egg or the sperm. It is thought that during cell division of a sperm or an egg, the number 21 chromosomes do not separate properly. Thus, one cell will have an extra number 21. Therefore it is also called Trisomy21. Approximately 95% of cases of Down Syndrome cases are Trisomy 21.The other 5% cases are called Translocation and 3% of the cases are called Mosaicism. With increased maternal age, the incidence of occurrence of Down Syndrome birth increases but 80% of these children are born to women under the age of 35. Down Syndrome is not related to race, nationality, religion or socio-economic status.

Down Syndrome individuals have characteristic (phenotype) features so usually one can recognize the Syndrome by looking at the person. They have slanted eyes, short (pug) nose, small ears, open mouth, and short neck. They are usually short with a protuberant abdomen and an awkward gait. The degree of mental retardation varies from normal to mild to moderate to severely retarded. It makes me mad that just this little chromosome causes such a big problem.

There are a lot of myths about Down Syndrome. The literature of Down syndrome has exaggerated the homogeneity of this population, despite the evidence for increased variation of many characteristics. The belief is in limited variability, and that people with Down syndrome reach a cut off point in adolescence, beyond which further development is not possible. This myth of Down Syndrome uniformity has persisted for a variety of reasons because until quite recently, there has been relatively little systematic research done. Of the many stereotyped characteristics, mental deficiency has been given so much emphasis. This is wrong. That is just like saying that someone is dumb because of their race, and then trying to make it a fact. Over the years, advanced medical science, improved educational systems, considerably greater social acceptance of people with disabilities in the community, and continuous efforts of the NDSC (National Down Syndrome Congress ) and the NDSS ( National Down Syndrome Society) working toward the goal of normalization of this population, has almost deinstitutionalized patients with Down Syndrome in the USA. In fact, there is a waiting list for the adoption of these children in the USA. Today Down syndrome children are in inclusion educational systems with typical peers from elementary through high school.

There is so much more to these children than their disabilities. They can teach us things that we never knew. They might not be as bright as some of us, but they can