A Bit of History

Where do I start on this?  I suppose that looking at how far the existence of Down’s syndrome can be traced back may be a good idea as although it is John Langdon Down in 1866 who was first credited with grouping and describing, in medical literature, the characteristics that people with Down’s syndrome tend to share in common it appears that the condition has probably always existed.   

An early photo of a child with Down's syndrome

Skeletal Evidence

Among the earliest evidence of the existence of individuals with Down’s syndrome are the skeletal remains that date back to circa 5200 B.C. some 7200 or so years ago, these were found in a Native American cemetery on Santa Rosa Island, California.  The research on these remains may not be conclusive but it does strongly suggest that they are the remains of an individual, probably female, who had Down’s syndrome.   Another possible skull of a person with Down syndrome dates back to circa 550 B.C. with this skull being found in a burial site in Germany, there is however no detailed description of the skull so once again the evidence is inconclusive.  Moving forward to circa 700-900 A.D. and the skull that was excavated from a late Saxon burial ground in Leicestershire, England which Brothwell published a detailed description of in 1960 and the evidence is beginning to look a bit more substantial, although this is still not fully conclusive.  The most convincing skeletal evidence that points towards there always having been babies born with what we now know as Down’s syndrome seems to be found in the remains of an approximately 5- to 7-year-old child.  This skeleton is of a child who lived in medieval France about 1,500 years ago which underwent considerable study before the conclusion was made that the child had most probably had Down’s syndrome.

Although none of this skeletal evidence is totally conclusive of the early existence of people with Down’s syndrome there has been a recent discovery by a research team from Trinity College Dublin in Ireland that does conclusively demonstrate that babies being born with Down’s syndrome is nothing new.  Through managing to isolate DNA from bone fragments of the remains of a 6-month-old baby boy found in a monumental neolithic tomb they discovered three copies of chromosome 21 and could therefore diagnose that this ancient baby born around 4000 to 6000 years ago had indeed had Down’s syndrome.  It also appears from the way the baby had been buried that it was fully accepted within that society.  Prior to this most of the evidence pointing towards the condition being pretty much as old as time itself was subjective, as although there is quite a bit of it other than the skeletal evidence it mainly comes in the form of figurines, pottery and paintings.


Figurines, Pottery and Paintings

Possibly the oldest clay figurine that may be a representation of someone with Down’s syndrome dates back to circa 5000 B.C. some 7000 years ago and comes from West Thessaly in Greece with another, not quite so ancient, example being an Egyptian figurine from around 100 A.D.  

Tolteca Terracotta

Other artefacts include a figurine from the Monte Alban culture of Mexico dated 400-800 A.D. of a goddess with a turban made of pearls, one from the Tumaco-La Tolita culture that inhabited the borders of present-day Columbia and Ecuador from around 500 A.D.  a pottery vase from 1200-1500 A.D. that was found in Peru and also a terra-cotta figurine from the Tolteca culture of Mexico from around 500 A.D.  Some of the strongest evidence in this field that appears to show the existence of individuals with Down’s syndrome within ancient civilisations though comes from the Olmecs.

The Olmecs are the earliest known Meso-American civilisation who lived around 1500 B.C. to 300 A.D. in where is now known as the Gulf of Mexico and they appear to have been a very creative, artistic people being known for sculpting giant heads as well as figurines.  Among the figurines that have been found are some that are considered to be representative of individuals with Down’s syndrome, it is also thought that they were most likely revered as a god-human hybrid resulting from the mating of a human woman and a jaguar.  The Olmecs were polytheistic believing that many gods controlled the natural forces of life and took on human like form and with the jaguar being their main totem this would make babies with Downs’ syndrome very special.  Although there is some speculation around these figurines as to whether or not they are representative of someone with Down’s syndrome it appears, at least to me, that following the diagnoses given on the baby from the Irish Tomb it is extremely probable that they do.

One of the Olmec figurines 

Over the years there has not only been debate about whether or not these figurines depict individuals with Down’s syndrome there has also been discussions around certain paintings.  There is a painting by Joshua Reynolds (1723-1792) entitled Lady Cockburn and her Children where it looks very much as if one of the children may have Down’s syndrome.  It is argued that this is highly unlikely though as the child in question grew up to be Admiral George Cockburn of the British Fleet, so this painting doesn’t seem to help much with the portrayal of individuals with Down ’s syndrome within societies.  However, there are other paintings that possibly depict children with the condition. Both The Adoration of the Shepherds from around 1618 and Satyr with Peasants from around 1636-1640 both by Jacob Jordaen may or may not show babies with Down’s syndrome.  Another painting, which is a night-time nativity scene, that may well show children with Down’s syndrome is The Adoration of the Christ Child, artist unknown, from around 1515A.D.  In this painting there is both an angel and a shepherd that look as if they have some of the characteristic features that are related to the condition.  There are also a few others paintings where the question of whether or not a person in them has Down’s syndrome.  With varying artistic styles and interpretations as well as other conditions with unknown (at the time) causes that were around, it doesn’t seem easy to determine whether or not these paintings do depict individuals with Down’s syndrome.  I like to think that at least some of them do though especially know that we know, and don’t just suspect, that the condition has been around for at least 4000-6000 years.


Tha Adoration of the Christ Child with close ups of angel and shepherd

Back to John Langdon Down

Right at the beginning of this I mentioned that it was John Langdon Down in 1866 who was credited with grouping and describing the characteristics that people with Down’s syndrome tend to have in common although due to the strands of thinking at that time he classified them as Mongolian Idiots or Mongoloids.  It wasn’t until 1961 when a letter appeared in the “Lancet” a medical journal, from a group of eminent geneticists and physicians that a move away from this terminology began to happen.  They proposed that the terms in use were replaced with Langdon Down Anomaly or Down’s syndrome.  

John Langdon Down

As we know it was the term Down’s syndrome that came to be used, this was after the World Health Organisation published the 8th revision of the International Classification of Diseases 1965 where the word Mongol as a medical reference was dropped.  It seemed to take the medical profession a while to get to grips with this though as when my daughter Sammy was born in 1974, nearly ten years later, the diagnosis I was given for her was that she was a Mongoloid.  So, whether we now say Down’s syndrome or Down syndrome personally I really don’t mind as either is a vast improvement on the terminology still in use when Sammy was a baby.   Sadly though there is still a lot of misuse of the term Mongol as it gets banded around as an insult which is extremely hurtful not only for people with Down’s syndrome and their families but also to the people of Mongolia.  I’m going to go to have to stop myself from going down that route now though as I think the misuse of words is a topic all of its own.

John Langdon Down may have been the one to realise that individuals with Down’s syndrome were a distinct group of people but he didn’t know why the condition occurred.  The person who is credited with this finding is the French paediatrician and geneticist Jerome Legeune.   It was while he was working in the laboratory of Raymond Turpin in 1958 that the discovery of an extra chromosome in people with Down’s syndrome was made.  Whereas there are typically 46 chromosomes in each cell of the body individuals with Down’s syndrome have 47, an extra chromosome 21 in all or some of their cells. 

Chromosomes showing the presence of Trisomy 21

The majority of people (95%) who have Down’s syndrome will have Trisomy 21 (Nondisjunction) which is where every cell in the body has an extra chromosome 21.  There are however two other types:  Mosaic Down’s syndrome, which is the least common form of the condition (about 2%) occurs when not all of the cells contain an extra chromosome 21.  Some cells have the extra chromosome making 47 but others have only 46.  And finally, Translocation where the total number of chromosomes is 46 but a full or part copy of chromosome 21 attaches itself to another chromosome.


So, we now know what happens to cause Down’s syndrome, it’s this extra chromosome that occurs during cell division either prior to or at conception but as far as I am aware there is no scientific explanation as to why this difference in cell division may happen but it does and it seems as if it always has, so surely it’s time to just accept and embrace the wonderful diversity that individuals with Down’s syndrome bring to this world.  After all wouldn't be terribly boring if we were all the same.

Information sources used:

John M Starbuck Journal of Contemporary Anthropology, Research Article, Volume II Issue 1, 2011, On the Antiquity of Trisomy 21: Moving Towards a Quantitative Diagnoses of Down Syndrome in Historic Material Culture.









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