History of Down Syndrome
Being a caregiver or family member of someone with Down Syndrome is normally a great joy with all the love and affection they give back – you just have to want them – but it can be disheartening, as when we try to help our loved ones, we sometimes may find that prejudice, fear, health problems, socialization issues and learning disabilities, gets in the way – life just seems to get that bit more harder than we might like from time to time.
This isn’t unique to children with Down Syndrome of course. Lots of parents face problems – some may have kids that get picked on, others that bully, others with maths problems … you get the idea. That’s why it’s occasionally a good idea when you have a child with what ever type of problem, to take a look backwards, so on this website, which is Down Syndrome focused, we examine the history related to Down Syndrome, and see exactly how far we as humans have come in our understanding and treatment of people with Down’s Syndrome.
Learning from the history of Down’s Syndrome enables us to look forward, to see how bright the future is looking, and how good the hear and now, now is.
History of Down’s Syndrome
The Ancient Early History of Down Syndrome
The earliest historical evidence of Down’s Syndrome might be found in statues made by the Olmec people.
The Olmecs were a tribe who lived in Central America between 1500 BC and 300 AD.
Archeaologists have found a large number of figurines that closely resemble a child with Down’s Syndrome, featuring round, puffy faces, slanted eyes, epicanthic folds on the eyes, a short nose with a broad flat bridge, and obesity.
The historical evidence they have managed to find seems to point to an Olmec belief that these children were half-divinities.
The Olmecs revered the jaguar as a deity, and may have classified children with Down’s Syndrome as products of that deity after projecting resemblances between the two.
We know these figurines must have come from somewhere in real life, as it is miserably difficult to produce quality art representing humans without a visual reference.
Unfortunately, there aren’t too many other historical artworks depicting the signature features of Down’s Syndrome until the late nineteenth century.
The possible reasons for this exclusion of people with Down Syndrome from history records, are a relatively small population, a high rate of infant mortality, and the cultural tendency for women to have children at an extremely young age.
We know today that maternal ages over 35 put a newly conceived child at a much higher risk for Down’s Syndrome, and most women throughout history had their children in their teens or early twenties.
The Developing Classification of Down’s Syndrome
The first clinical description of Down’s Syndrome in history, was written and published by John Langdon Haydon Down (1828-1896) in 1866.
Down was the superintendent of the Earlswood Asylum for Idiots in Surrey, England for many years.
This institution cared for children with mental retardation, which gave Dr. Down plenty of time to study people with various disorders.
He made the first distinction between children who had been labeled “cretins” and children he labeled “mongoloids”. These two designations were later found to refer to congential hypothyroidism and Down’s Syndrome, respectively.
He labeled the children with Down’s Syndrome “mongoloid” because of the highly prejudiced and mistaken beliefs about ethnicity that was historically prevalent at that time. He adopted his classification system from a dissertation by an early anthropologist named Blumenbach who described the divisions of the human race as Caucasians, Malay (Native Americans), Ethiopians (Africans), and Mongolians.
The Victorian era in history was chock full of attempts to justify the superiority of colonial empires and the mandate to inflict colonialism throughout the world, and the scientific world suffered through it along with everyone else.
Though Down’s clinical description of the syndrome was accurate, his belief that people with Down’s Syndrome suffered from arrested ethnic development was clearly mistaken.
This belief was mostly based on the tendency for people with Down’s Syndrome to have an epicanthic fold.
The term “Down’s Syndrome” seems to have originated in Russia, where Mongolian people actually made up a portion of the population (and didn’t take too kindly to the classification).
Despite his mistaken beliefs about ethnicity, Down was well known for his progressive thinking regarding learning disabilities and his efforts to improve the quality of life for his patients with training programs and research into the abilities of people with Down’s Syndrome.
Progress from Discovery of Down Syndrome to Now: The recent history of Down’s Syndrome
Keep in mind that the specific cause of Down’s Syndrome was historically impossible to prove until doctors got the capability of doing direct genetic research.
At first, many researchers thought that Down’s Syndrome was due to a kind of thyroid disease or a persistent infection such as tuberculosis or syphilis.
In 1896 Telford Smith noted the resemblances between Down’s Syndrome and congenital hypothyroidism and theorized that they were two facets of the same problem. He also reported an improvement in the physical and mental condition of people with Down’s Syndrome when given thyroid treatment.
Today we know that Down’s Syndrome is caused by genetics while congenital hypothyroidism is often a product of iodine deficiency, but the ability to find these causes have only been available since the middle of the twentieth century. The most probable reason for the improvements that Dr. Smith noticed was that his patients had both Down’s Syndrome and hypothyroidism.
We know today that people with Down’s Syndrome often have thyroid problems of one kind or another, but they don’t all have hypothyroidism. New laboratory techniques allow us to accurately identify and effectively treat the section of the population with Down’s Syndrome and hypothyroidism together. However, this belief that all people with Down’s Syndrome ought to be given thyroid treatments persisted until 1969, when the variations were finally fully recognized.
Questions about the relationship between Down’s Syndrome and thyroid problems persist in research even today. Modern researchers are questioning the relationship of thyroid problems in adults with Down’s Syndrome to the occurrence of both Alzheimer’s disease and zinc deficiency.
Another theory floating around was that children with Down’s Syndrome were children who had not finished developing in the womb prior to birth. This may be laughable to us today, but it was a viable theory back then.
The next major point about people with Down’s Syndrome came from Dr. Brushfield in 1924 with his identification and classification of “Brushfield spots”, the white or grey spots that often appear on the irises of people with Down’s Syndrome.
Unfortunately, research and testing for Down’s Syndrome wouldn’t progress much beyond this for a while.
Dr. Waardenburg and Adrian Bleyer – 1930’s
The idea that genetics might contribute to Down’s Syndrome was suspected as early as 1932 when it was suggested by a Dutch opthalmologist named Dr. Waardenburg.
In 1934 Adrian Bleyer, an American, suggested the possibility that Down’s Syndrome was due to the triplication, called a trisomy, of a chromosome.
Unfortunately, the equipment to test these theories did not yet exist although time has proven these two men right.
Patricia Jacobs and Jerome Lejeune – 1950’s
Patricia Jacobs in England and Jerome Lejeune in France reported an extra 21st chromosome in the DNA of people with Down’s Syndrome almost simultaneously in 1959, even though they’d been working totally independently.
The time, equipment and funding for this vital research was finally all available simultaneously.
Dr. Polani and Dr. Clarke – 1960’s
In quick succession, the research team under Dr. Polani discovered that some instances of Down’s Syndrome were due to translocation in 1960 and the team under Dr. Clarke reported the first identified cases of mosaic Down’s Syndrome in 1961.
The rise of Institutionalization for those with Down Syndrome – still in the 1960’s
While the new research and understanding of the causes of Down’s Syndrome were wonderful, some of the side effects were not.
The ability to genetically test newborns for Down’s Syndrome led to an era where almost all babies were institutionalized as soon as possible before their parents bonded to them.
Institutionalization was considered the best option for these children and their families at the time, and it would take more research yet to prove that basic cultural assumption wrong.
Dr. Stedman and Dr. Eichorn – still in the 1960’s – the argument against the Institutionalization of those with Down Syndrome
In 1964 a pair of scientists named Dr. Stedman and Dr. Eichorn studied and described the negative impact that institutionalization had on children with Down’s Syndrome.
During their studies they found that the lack of a significant, continuing caregiver and the general lack of stimulation provided by the institutional environment was lowering cognitive ability even further than Down’s Syndrome did by itself.
This breakthrough convinced doctors that hospitalized and institutionalized children have emotional needs as much as any other child, that they responded better to care when those emotional needs are met.
It also led the medical community to understand that a multidisciplinary approach was necessary for children with all kinds of disabilites.
Eventually a new specialty of medicine developed just to handle these care issues called developmental pediatrics. This new specialty was created to train pediatricians to handle the specialized needs of children who are developmentally challenged.
Mongoloid, Down Syndrome or Down’s Syndrome – still in the 1960’s
In related news, the term “mongoloid” finally came under fire from Asian genetic researchers and the parents of children with Down’s Syndrome in the 1960’s.
Once the Mongolian delegate to the WHO asked that the term no longer be used, it was dropped in favor of “Down’s Syndrome” on an international basis.
Later on the medical community in the United States voted to drop the possessive in the name and just call it “Down Syndrome” because Dr. Down neither owned or suffered from the syndrome. What’s in a name. . .
The PARC Trial – every child had a right to a free and appropriate public education program, regardless of mental ability – 1970’s
The 1970’s were a time of great progress for people with Down’s Syndrome.
In the United States, 1972 was a landmark year when the PARC case came to trial.
The result was a declaration that every child had a right to a free and appropriate public education program, regardless of mental ability.
Similar rulings were taking place all over the world.
In 1973 parents and professional caregivers of people with Down’s Syndrome came together to form the Down’s Syndrome Congress devoted to increasing the level of care and the possibilities for people with Down’s Syndrome.
The end of the automatic push for the Institutionalization of those with Down Syndrome – Still in the 1970’s
As the belief that institutionalization was best vaporized and children with Down’s Syndrome started living at home in greater numbers, the medical profession as a whole realized they were going to have to provide to this patient group on a wide basis.
Clinicians started to pay more attention to the basic health needs of these children, expanding into areas such as cardiac, gastrointestinal and auditory care among others.
Because of this response from the wider medical base, advances came quickly in the treatment of congenital heart disease, surgical repair of the gastrointestinal tract, and the treatment regimens necessary to deal with immune problems and the resultant infectious disease.
These basic medical / treatment advances have served to dramatically increase the lifespan of people with Down’s Syndrome.
Down’s Syndrome Preventative Medical Checklist – 1980’s
Medical care provided in a multitude of communities eventually led to the development of the “Down’s Syndrome Preventative Medical Checklist” in 1981.
This special protocol checklist presents specific medical management suggestions for doctors treating people with Down’s Syndrome.
It’s still in use today and is updated every two years with the latest findings.
Recent Advances in our Understanding of Down Syndrome
Genetic researchers managed to genetically alter mice to carry a copy of the human 21st chromosome in 2004.
Genetic studies on these mice will help researchers find the specific genes that give rise to medical conditions linked with Down’s Syndrome such as impaired brain development, heart defects, behavioural abnormalities, Alzheimer’s disease and leukemia.
There are over 250 genes in the 21st human chromosome, and right now we have no real idea which gene does what.
By eliminating specific genes from the extra chromosome and observing the results in the mice, researchers may be able to find specific genes and create precisely targeted treatment.
In 2006, these researchers found the single gene critical to learning and memory. Therapies targeting that gene could improve the ability to learn while reducing the effects of early-onset Alzheimer’s.
Some ethical groups object to this research based on worries about human genetic engineering.
They worry that by adding human genetic code to mice, we are making the mice “more human”.
These genetically altered mice show no human characteristics and are visually indistinguishable from unaltered mice, but the ethics debates will probably rage on.
Hopefully, those debates won’t stop research that could help our loved ones.
The History of Down Syndrome in Conclusion
In the last century of research for people with Down’s Syndrome, we’ve managed to go from complete mystery to awareness of the basic cause and effects of the disorder.
Historically, we’ve gone from seeing people with Down’s Syndrome as little better than animals to full, real people whom we love and who love us back.
Instead of putting them in institutions for life, we’ve learned that they can be our co-workers, partners and friends.
We’ve learned so much in the last century, and we look forward to a future that grows ever brighter.
Research and Main write by Loni Ice, minor editing by Donald Urquhart