John Langdon Down and the History of Down Syndrome

By Nelson Tang

It is mostly agreed upon that modern humans began in Africa and slowly spread out throughout the world. With the history of modern humans only being roughly 200,000 to 300,000 years ago, we have gone through many evolutionary changes through the years.   As a species, we are relatively young and are still undergoing continuous evolution as it is a process that takes a lot of time. To understand why evolution occurs, we must first understand what are the causes or reasons for it. One of the main drivers is natural selection as it is a mechanism of evolution. It was a concept created by Charles Darwin in his On the Origins of Species, in which he states how species adapted to change and their environments by passing on desirable traits and characteristics to their offspring that would allow those with the best genes to survive and continue forward. In simple terms, this means survival of the fittest where the strongest survive while the weak die out. Adaptation is the main drive of evolution. Moreover, there are numerous factors to take in and account for when it comes to evolution change as it is more than just the environment. Other mechanisms of evolution include mutation, genetic drift, and gene flow. Through this, we see a genetic diversity spread out across among humans where characteristics vary. However, it can lead to unforeseen changes such as mutations, whether it be on the physical or mental level.  Down Syndrome is one example of a mutation or abnormality in the genes.

What is Down Syndrome? What causes Down Syndrome? Why does it occur? How common is Down Syndrome? What is the history of it and what do we know about it? These are all valid questions for people to ask when it comes to trying to understand the condition.  Despite everything we know about Down Syndrome so far, there are still misconceptions, misinformation, stigma, and stereotypes surrounding it. Therefore, it must begin with the understanding and educating of the subject matter in order to dispel all of the misunderstandings that people may have. It all begins with awareness and only then can there be understanding and compassion among us.

Down Syndrome is a genetic disorder when abnormality in the cells occurs before the birth. It is a disorder that delays both developmental and intellectual growth in individuals. It is caused by a duplicate copy in chromosome 21 where the copy may either be whole or partial. As a result, it leads to one of three types of Down Syndrome depending on the duplication. The three types are Trisomy 21, Mosaic Down Syndrome or Translocation Down Syndrome with Trisomy 21 being the most common among the three. Trisomy 21 occurs when there are three copies of chromosomes instead of two copies and accounts for about 95% of all cases whereas the other two appear to be rarer. Mosaic Down Syndrome and Translocation Down Syndrome only account for 4% and 1% of all cases. Roughly, 1 in 4 families in the United States are impacted by this with the risks increasing with a mother’s age. Statistics show that on average it occurs in 1 out of every 691 infants as there are over 400,000 people with this condition in the United States.

When it comes to Down Syndrome, it is different and varies from case to case as conditions range from mild to severe. There are physical indicators present in individuals where they may have all or some of the conditions. Such symptoms include a small head, flattened facial features, eyes with an upward, slant ears of small or unusual shape, short neck, poor muscle tone, broad short hands with a single palm crease, small hands and feet, short fingers, extreme flexibility, short stature, or Brushfield’s spots. Furthermore, it applies to the cognitive and physical impairments as well where it varies in severity from individual to individual. Many with Down Syndrome have broken the stigma and stereotypes performing and functioning well in society living independently enjoying life just like everybody else. Advancements in the medical field have had a great impact as the life expectancy of people with Down Syndrome has increased from the age of 25 in 1983 to 60 years today. 

It has been revealed that Down Syndrome was present during different periods of time ranging from Mesolithic Period to Neolithic Period to the Bronze Age to the Iron Age to more recent times in the Early Modern Age based on recent archaeological finds. Among the bones of 10,000 people that were analyzed across several European civilizations, there were seven cases of down syndrome found in infants. Each case came from a different cycle and time period with the conditions varying. This was according to a study in a publication of an article in Nature Communications. However, an issue emerged as just looking at skeletal remains was not enough as further analysis was required. The solution was a methodology in analyzing genetic sequences found in the bones. Scientists were also able to gain an understanding as to how each of these civilizations treated or cared for those afflicted with down syndrome.   

Who is John Langdon Down and what his significance or relation to Down Syndrome? Down Syndrome is named after him as he was the first person to write about the condition.  Before all of this, it was referred to as Mongolism or simply using offensive terms. Before John Langdon Down became a doctor, he worked in several other professions over the course of his life. Down was born in 1928 in Torpoint, Cornwall in the UK and was the seventh child in his family. His early education was limited as he only spent several years in school. His time was spent helping out with his father Joseph who was a merchant of “colonial wares.” The family shop included groceries, tobacco, and a pharmacy. However, his father had no training or knowledge in pharmacy. Therefore, John would attend school for it at the age of 21 at the Chamber of Pharmacist and Pharmaceutical Society" in London. He would also go on to teach other people as a chemistry lecturer in university.  

One day, something according to John as he wanted to pursue another academic and career path. He wanted to study medicine and become a doctor, so he began his studies in 1853 at the University of London where he learned from different areas and subjects in the field. Six years later, Down graduated earning him the qualification of  Doctor of Medicine.  He would go on to work as a doctor at the London hospital, where he earned little money. He would also be a lecturer at London Hospital Medical College to support himself. It wasn't until Down met his future wife Mary Crelin where he would search for a permanent job. He knew that he had to earn more money if he wanted to marry her, which he wanted to and did.

At the age of 30, Down began working at Earlswood Asylum in the city of Earlswood, which was near London. Down and his wife were given an apartment in the Earlswood Complex to live in. The asylum was a hospital and home to 300 people who had various disabilities mostly coming from poor families who abandoned them. Prior to this, Down had never worked with people with disabilities and he was never given specific instructions prior to his hiring. It proved to be a challenge at first, so he sought the advice from colleagues of his. Mary and John would marry in 1860 and go on to have four children together. Mary supported her husband in his work by assisting in various tasks and organizing. She worked closely with the residents of the hospital and trained with them in various things. 

How did John first discover and document Down Syndrome? It all began at Earlswood in a report that he wrote in 1862 and was influenced by what another doctor there was doing. This person was Doctor John Conolly who was the reformer of psychiatric hospitals and Official Visitor to Earlswood. Connolly sought to find the link between the external contours of the skull and specific intellectual and psychological characteristics. Inspired by this, Down would examine the palates and tongues of the residents of Earlswood. He noted that "in 16 cases the tongue presented a sodden appearance and exhibited transverse furrows on its dorsal surface; in all these patients one is able to trace a marked physiological and psychological agreement.” He saw that they had larger tongues, which interfered with speech. Thus, this reinforced what Dr. Connolly was pursuing and trying to find out. Furthermore, Down would also examine the size and shape of the resident’s skulls as well as other facial features and characteristics. He continued to take more notes over the years observing other physical features and mental capacity. He saw that one of the groups of patients would respond well to training proving that they were capable individuals. It was not until 1959 where the underlying abnormality was found by discovering an extra copy of chromosome 21. 

At Earlswood, Down wrote down his findings and thoughts about the residents and his work. He was passionate about his job, enjoying his work and cared deeply about the people there. He was interested in their lives, their health, and their importance to the field of science. Moreover, Down emphasized how he wanted all of them to have a good life, to have the best doctors, to learn new things, and that their needs and wants should always be taken into consideration. Thus, Down transformed life by building a farm, a bakery, and several types of workshops at Earlswood. He would also go on to talk about this in his lecture to students advocating for these people. He firmly believed and supported the notion that people with disabilities were more than capable of living independent and fulfilling lives.  Down stressed about the care towards people with disabilities and for society to think about their human dignity. Down also went on to challenge the preexisting stances and knowledge in the field as it was negative and offensive for the most part.

As much support and awareness grew for John, others would also follow in his footsteps making their own contributions to the field. However, a problem arose as Earlswood and homes like it were generally for poor people. Rich families wanted to send their loved ones with disabilities to Earlswood as well, but it led to disputes over money.  Prior to this, homes like this did not exist for rich families and they usually hid family members with disabilities. Down wanted to change that, as he wanted a home for all, no matter their economic or social standings in life. He would leave Earlswood as it continued with his visions and found his own home in 1868 called the Normansfield Trainings Institute where he lived for the remainder of his life before dying at the age of 65. He continued his work as he wanted the residents to learn more and different things, while he took notes of their progress and development. His sons Reginald and Percival would follow in their father’s footsteps by also being in the field of medicine, taking over the hospital and continuing the work.

Thanks to John Langdon Down, he laid the foundation of what we now understand about Down Syndrome and mental disabilities. He helped in challenging the preconceptions and notions in the field breaking through the stigma and negative connotations. Down helped in bringing a greater understanding and awareness towards people with disabilities.  He showed how people with disabilities are capable of functioning on their own and living their lives and they are human beings just like everyone else. They are capable of learning new things and doing different things as there is no limit. As a society, we must have more compassion and empathy for all as we are all in it together. There needs to be a greater awareness towards the subject matter as even until today, there are still many misunderstandings about Down Syndrome and other mental disabilities. This can be attributed to a lack of funding from the government as Down Syndrome is the least funded genetic condition by the National Institute of Health, despite being the most common and frequent chromosomal disorder. It must change in order to promote a greater understanding and awareness as more funding would allow for more research and breakthroughs. Other changes include legislation and more inclusion, as everything begins with education and understanding. At the end of the day, individuals with Down Syndrome have proven to be just as capable in growth and independence as those who do not have the condition. We must continue to fight against the stigma and stereotypes fostering understanding and acceptance. 

Sources: 

Gdsf. “FAQ and Facts about Down Syndrome.” Global Down Syndrome Foundation, 4 Dec. 2023, www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/. Accessed 16 May 2024.

“History of Down Syndrome.” Intellectual Disability and Health, 24 May 2019, www.intellectualdisability.info/changing-values/history-of-downs-syndrome. Accessed 17 May 2024. 

Magazine, Smithsonian. “DNA Reveals Presence of Down Syndrome in Ancient Society.” Smithsonian.Com, Smithsonian Institution, 27 Feb. 2024, www.smithsonianmag.com/smart-news/dna-reveals-presence-of-down-syndrome-in-ancient-society-180983835/. Accessed 16 May 2024.

Whitcomb, Sean. “Mechanisms of Evolution.” Environmental Science, open.maricopa.edu/environmentalscience/chapter/mechanisms-of-evolution. Accessed 16 May 2024.

“Who Was John Langdon Down?” TOUCHDOWN 21: Who Was John Langdon Down?, touchdown21.info/en/page/5-trisomy-21/article/200-who-was-john-langdon-down.html. Accessed 16 May 2024.

Www.facebook.com/elliwritesbooks. “6 Things You Probably Didn’t Know about Down Syndrome.” Dreamscape Foundation, 30 Jan. 2019, dreamscapefoundation.org/6-things-you-didnt-know-down-syndrome. Accessed 16 May 2024.