A Brief History of Down Syndrome, Part 2: Before John Langdon Down

As current data suggests that DS occurs in 1 out of every 700 or so births, you would think someone would have noticed it before 1858 (perhaps in every culture since the dawn of time).  That would be correct.  As Down syndrome has been stigmatized and de-stigmatized at several points in human history, the physical evidence is few and far between.  However, it is still there.

From Prehistory

There are several instances of material evidence from prehistory that experts believe depict Down syndrome.  Clay tablets from Babylon dating back to 4000 BC record congenital 'malformations'.  Included are 62 human 'malformations' (and associated prophetic relations).  There is evidence from the Paleolithic era (18,000 years ago) which may depict Down syndrome or a related condition.  Taurodontism has been found in two teeth of this era, which is often associated with chromosomal disorders such as trisomy 21. (Savona-Ventura, ?).  A skull from a monastery at Breedon-on-the-hill in North West Leicestershire in England dates to approximately 700-900 AD and is alleged to have numerous features typically seen in individuals with Down syndrome.  Among those listed are an overall reduced size, microcephaly, a smaller skull cap, small maxilla, smaller skull length, thin cranial vault bones, smaller face and cheek bones, brachycephaly,  thick mandible, mandibular prognathism and irregular tooth development. (Starbuck, 2011).

Tolteca terracotta figurine

This terracotta figurine from Mexico dates to the Tolteca culture (approximately 500 AD) and depicts facial features that suggest Down syndrome:  small, up-slanting eyes, a small face, noticeable tongue, a weak nasal bridge and an open mouth. 

Olmec Were-Jaguar

Olmec mother holding jaguar child

One of the more disputed theories lies with the Olmec culture (also of Mexico) which existed from roughly 1500 BC to 300 AD.  The surviving art of this culture often depict jaguars mating with older women of the tribe to produce 'jaguar-babies' or 'were-jaguars'.  It has been put forth by numerous sources that these 'jaguar babies' probably had Down syndrome based on the fact that they were a) born to older women, b) were depicted with sharp teeth (possibly ectodermal dysplasia), c) had small, slanted eyes, d) had flattened noses, e) were often rounder or more overweight than other representations of children (hypotonia and hypothyroidism) f) were often depicted in unusually flexible positions (suggesting hypermobility), g) when depicted as infants, were depicted limp (hypotonia again)  and h)  had cleft heads (enlarged metopic suture). Again, the physical evidence is moderate at best making this a widely disputed argument in the anthropological world. 

The Tumaco-La Tolita culture of Columbia and Ecuador (600 BC to 350 AD) is known for depicting a variety of diseases and ailments in their work.  One figurine in particular is suggestive of Down syndrome (Bernal, Brecino, 2006 and Starbuck, 2011) as it depicts a short, obese person with small, up slanted eyes, an open mouth, a small nose with depressed bridge, a small face relative to the rest of the head, a protruding jaw and thickened fingers.

Historical Evidence Potentially Depicting Down syndrome

One of the oldest is a painting from roughly 1505 referred to as "Ecce-homo-scene".  It has been put forth that the child depicted in this painting has the characteristics of Down syndrome.  The eyes are small and slightly up slanted, the neck is broad, the ears small and low set, the face small compared to the rest of the head, there is a weak nasal bridge, the mouth is open and there is an overall stocky appearance.  It could be inferred from this painting that the child is a type of street performer;  in fact there is a monkey on a leash which is grooming the child's hair. Sadly, this last aspect would fit with the times. (Starbuck, 2001)

Virgin and Child with Saints Jerome
and Louis of Toulouse

 The next are a series of religious paintings that have been attributed to Andrea Mantegna (1431-1536).  The first, Virgin and Child with Saints Jerome and Louis of Toulouse (approx 1455 AD) depicts a child with up slanted small, widely spaced eyes, an open mouth with a protruding tongue, short digits with an in-curving 5th finger and a weak nasal bridge with a "button" nose. Also notable is the hypotonic or relaxed facial expression.

Madonna and Child

Virgin and Child

Around 1460, Mantegna created Madonna and Child which has also been suggested to exhibit characteristics of Down syndrome: epicanthal folds, small narrow eyes, an open mouth, hypotonic expression, flattened nasal bridge and button nose.

Also from (approx.) 1460 AD, is a painting entitled Virgin and Child which experts believe to also exhibit characteristics of Down syndrome.  Among those listed are:  epicanthic folds, oblique eyes, open mouth, protruding tongue, in-curving 5th finger, widely spaced first and second toe, a smaller head, a short, broad neck and hypotonic facial expression. 

It has been suggested that the reason for several of his paintings having children with Down syndrome features (while others notably do not) is due to the claim that one of Mantegna's 14 children had Down syndrome and one of his patrons, the Gonzanga family, also had a child with Down syndrome (which reportedly died at four years of age). (Starbuck, 2011)

The Adoration of the Christ Child

One of the most famous examples is found in the Flemish painting The Adoration of the Christ Child, created around 1515 by a follower of Jan Joest of Kalkar.  There are two individuals in this painting that have strikingly different facial features than the others and it has been argued that they depict people with Down syndrome.

Detail of The Adoration of the Christ Child

The first figure is an angel to the right of the Madonna.  Unlike the Madonna, the angel figure displays a flatter than normal face, up-slanting narrow eyes, epicanthic folds, flattened nasal bridge, upturned button nose, a downturned mouth and shorter than normal digits.

Second detail of The Adoration of the
Christ Child

The second figure is a shepherd boy located in the background.  It has very similar features to the previous angel (ie: flatter face, up-slanting narrow eyes, epicanthic folds, a flat nasal bridge, a button nose and a downward turned mouth).  This figure however, also has widely spaced eyes and a hypotonic expression on the face.  It is to be noted that there is a second "daytime" version of this painting where these characters are more typical looking. (Starbuck, 2001)

It is well known that those with disabilities, both learning and otherwise have been scorned, ridiculed and even regarded as evil throughout the ages.  Even Aristotle stated in his Politics: "...as to the exposure and rearing of children, let there be a law that no deformed child shall live."  This has persisted right up to modern day and beyond John Langdon Down.  With this artistic evidence, it makes one wonder if not everyone felt this way.  Aside from the were-jaguars, it is interesting that there are two separate versions of the Adoration of the Christ child and that the infant Jesus was depicted in such a manner.  I would like to think that this would suggest that small pockets of free thinkers, small groups of people who were touched by Down syndrome saw beauty, not an abomination.  I would like to think that there have been people throughout history that did not fear and despise those that were different, but rather saw them as something special.  So much so that they would depict their 'Savior' with those same characteristics.

------------
Bernal, J. E., and I. Briceno, 2006 Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador, Clinical Genetics, 2006

Savona-Ventura, Charles ( ) Historical Perspective Congenital Malformations: a historical perspective in a Mediterranean community

Starbuck, JM, On the Antiquity of Trisomy 21:  Moving Towards a Quantitative Diagnosis of Down Syndrome in Historic Material Culture, Journal of Contemporary Anthropology, October 2011

[Originally appeared on Down Wit Dat]  

A Brief History of Down syndrome - Part 1: How Down syndrome Got its Name

John Langdon Down was a physician in 1858 who was appointed Medical Superintendent at the "Earlswood Asylum for Idiots" in Surrey, England.  The asylum had been founded a decade before and was maintained as a charity for the learning disabled.  According to Wikipedia:

"People were astonished that he should wish to pursue a career working in the neglected and despised field of idiocy. He had been one of the outstanding students of his time with every prospect of election to the staff of the London Hospital. He was concerned that all children who were afflicted by mental alienation or incapacity of any kind were placed in the category of idiots and regarded as beyond help. He had been enthusiastic about hearing of an experimental school in Switzerland but on visiting it found the inmates neglected and the Patron of the school living it up in the West End of London."

He also denounced the current idea that higher educated women produced 'feeble-minded' children and felt that racial differences were of little consequence (which was very forward thinking of a Victorian gentleman) although he did go about it completely backwards. He published Observations on the Ethnic Classification of Idiots in 1866 where he categorized his patients by their physical or "racial" traits.  In this group were individuals which he felt displayed the features of the Mongols of China;  these became known as "mongoloid". Just prior to this, he had made the distinction between "cretins" (those found do have hypothyroidism) and "mongoloids".  Later on his sons would join him in his practice and continue to explore "mongolism". 

"Mongolism" was the most commonly recognized learning disorder by the early 20th century;  most people with the disorder lived out their short lives in institutions.  As Eugenics became popular, many countries including the US had forced sterilization programs for those with learning disabilities.  Nazi Germany adapted Aktion T4 which led to the systematic murder of hundreds of thousands who were judged "incurably sick, by critical medical examination".  

There were many theories about the origin of DS at this time, including maternal age, inheritable traits and accidents during birth.  It wasn't until 1959 that Jérôme Lejeune discovered the karyotype and subsequently, Trisomy 21.  

In 1960, Dr. Paul Polani discovered translocation and a year later Dr. Clarke discovered Mosaic Down Syndrome.

Shortly thereafter, with the onset of genetic testing, it became the norm to institutionalize all people with learning disabilities, including Down Syndrome.  The children were removed from their parents, before any bonding could take place and sent away.  I have shared this quote before but feel it is needed again;  this is the mother of a child with Down syndrome.

"Jason was born on June 27, 1974, and was diagnosed as having Down Syndrome when he was only a few hours old.  Like many other parents, my husband, Charles, and I were told by the doctor, "Your child will be mentally retarded.  He'll never sit or stand, walk or talk.  He'll never read or write or have a single meaningful thought or idea. The common practice for these children is to place them in an institution immediately."  The doctor went so far as to say, "Go home and tell your friends and family that he died in childbirth.". 

Other professionals were consulted reinforced this philosophy.  One psychologist suggested that raising a child like this would put extreme pressure and strain on our marriage and that the constant disappointment over the years would surely destroy our family."

(Taken from "Count Us In:  Growing Up with Down Syndrome" by Jason Kingsley and Mitchell Levitz, two men with Down Syndrome.   This is an excerpt on page three of the introduction, written by Jason's mother Emily.)

A Comparison of the Growth and Development of Institutionalized and Home-Reared Mongoloids During Infancy and Early Childhood was written in 1964 by D.J. Stedman and D.H. Eichorn.  This study opened the door for de-institutionalizing North America.  They found that depriving children of the basics of a steady significant caregiver and stimulation caused cognitive scores to drop even lower than those with Down Syndrome alone.  They showed the medical community that those with learning disabilities have both emotional and physical needs that require fulfillment which in turn, fosters development. 

The Mongolian delegate successfully appealed to The World Health Organization in 1961 to drop references to "mongolism" and by 1969 "Down's Syndrome" was becoming more widely used over "Mongolian idiocy".   By the middle 70's, less and less children were being institutionalized and new advances were being made in pediatric medicine.  In the 1980's the average life span had increased to 25; in 2011 it is now in the 60's.

[Originally appeared on Down Wit Dat]