Dr John Langdon Down

John Langdon Haydon Down (changed to Haydon Langdon) was born on 18^th November 1828 and died on 7^th October 1896. He was a British physician best known for his description of the genetic condition now known as Down Syndrome^[1], which he originally classified in 1862, exactly in the mid-point of his life.

John Down was born in Torpoint, Cornwall. His father was descended from an Irish family. His great-great grandfather had been the Protestant Bishop of Derry and Raphoe. At age 14, he was apprenticed to his father, the village apothecary at Anthony St Jacob’s. The vicar gave him a present of Arnott’s Physics^[2] which made him determined to take up a scientific career.

In 1846, a chance encounter with a strange-looking girl sparked Down’s interest in becoming a doctor. At the age of 18, he went to London, where he worked for a surgeon in the Whitechapel Road, where he had to bleed patients, extract teeth, wash bottles and dispense drugs. Later, he entered the pharmaceutical laboratory in Bloomsbury Square and won the prize for organic chemistry.

More than once, Down was called back to Torpoint to help in the business until his father died in 1853, after which Down entered the Royal London Hospital as a student. Honours and gold medals distinguished his early career, and he qualified in 1856 at the Apothecaries Hall and the Royal College of Surgeons.

Down was appointed Medical Superintendent of the Earlswood Asylum^[3] in Surrey in 1858, and he worked there for ten years. Down decided to transform Earlswood, a large institution with its origins in two pioneering institutions set up in Highgate and Colchester, while he took his MB in London, won a Gold Medal in physiology and took his MRCP and MD degrees. He was elected Assistant Physician to the London Hospital and continued to live at Earlswood and practice there and in London.

He and his wife Mary (who had met through his sister) transformed Earlswood from a place of horror where patients were subject to corporal punishment and kept in dirty conditions and unschooled to a happy place where all punishment was forbidden and replaced with kindness and rewards, the dignity of patients was valued, and they were taught horse riding, gardening, crafts and elocution. Down restructured the administration of the Asylum and started a regimen of stimulation, good food, and occupational training.

In 1866, Down wrote a paper entitled “Observations on an Ethnic Classification of Idiots”, in which he put forward the theory that it was possible to classify different types of conditions by ethnic characteristics. He listed several types, including the Mongolian, Malay, Caucasian, Aztecs, and Ethiopian types. In the main, the paper is about what became known as Down syndrome, but which he classified as the Mongolian type of idiot. As a result, Down syndrome was also known as “Mongolism”, and people with Down syndrome were referred to as “Mongoloids”.

Down’s findings were based on measurements of the diameters of the head and the palate and on his series of clinical photographs (he was a pioneer of the use of photography in hospitals). Mongolian idiocy became a widely used term but, in 1961, a group of genetic experts wrote to the Lancet suggesting four alternatives. The editor chose “Down’s syndrome”. WHO endorsed this later. The People’s Republic of Mongolia objected to using the descriptive term ‘Mongolian Idiot’ as it was derogatory to them. 

In a report from 1862, Down said: “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.”^[4] Although Down syndrome cannot be cured, early treatment can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. Down syndrome occurs equally in all races, with an overall incidence rate of approximately one in 800 births.

Picture Credit: “Royal Earslwood Park” by Ian Capper is licensed under CC BY-SA 2.0

Normansfield
After resigning from Earlswood in 1868, Down set up his own private home for those with developmental and intellectual disabilities at Normansfield – located between Hampton Wick and Teddington.

The Normansfield home’s first occupants were 18 mentally disabled children of upper-class families in the community – such as lords and physicians. In the home, Down and his wife did their best to educate the children and expose them to a wide variety of mentally stimulating activities. Normansfield was a success and eventually had to be expanded to house the growing number of its inhabitants. By 1876, the number of inhabitants in Normansfield had swollen to 160.

Down also made contributions to medicine through his research and was the first person to publish a description of the Prader-Willi syndrome^[5], which he called ‘polysarcia’.

Down – the Writer, Father and Grandfather
In 1887, John Down wrote a book entitled “Mental Affections of Childhood and Youth”. It was published at the request of the Medical Society of London and was a transcript of three lectures along with fifteen papers Down had published on mental defects. The book details his ideas and findings about several mental abnormalities such as Down syndrome and microcephaly. It also contains his view on the leading thoughts and available literature on the subject. In the lectures and some of the papers, he also weighed in on what he believed were the potential causes of various mental disorders. A recurring theme was the influence of parental physical and mental health on their child’s chances of being born with a mental disorder. He also explored how the obstetric practices of the time could have influenced post-natal health.

His sons, Reginald and Percival, both qualified in medicine at the London Hospital, joined their father and became responsible for the hospital after his death in 1896.

By a wicked twist of fate, John Down’s grandson (Reginald’s son) was born in 1905 with Down Syndrome. The mother, Jane Down, never came to terms with her son’s problems. However, the boy grew to manhood in the Langdon Down home and became a well-loved family member, living a happy life and dying at age 65.

People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with ageing, including dementia. A century after Down’s death, his contributions to the field of medicine were celebrated at the Mansell Symposium in the Medical Society of London, and the Royal Society of Medicine published a biography about him.

Down’s institution was later absorbed into the National Health Service in 1952.

Sources and Further Reading

• https://langdondownmuseum.org.uk/dr-john-langdon-down/
• https://en.wikipedia.org/wiki/John_Langdon_Down
• https://library.down-syndrome.org/en-gb/research-practice/06/1/john-langdon-down-man-message/
• http://www.intellectualdisability.info/changing-values/history-of-downs-syndrome
• https://embryo.asu.edu/pages/john-langdon-down-1828-1896
• https://adc.bmj.com/content/81/2/195.4
• https://link.springer.com/article/10.1007/s00415-021-10601-x
• https://www.dsmig.org.uk/wp-content/uploads/2015/10/ConorWard_May05.pdf
• https://en-academic.com/dic.nsf/enwiki/1744124
• https://oxford.universitypressscholarship.com/view/10.1093/oso/9780195342680.001.0001/isbn-9780195342680-book-part-23

1. Also known as Trisomy 21 ↑

2. Full name: Elements of Physics, or Natural Philosophy, &c. By Neil Arnott, M.D. ↑

3. Earlswood Asylum was called The Royal Earlswood Asylum for Idiots, one of the most prominent institutions for people with mental disorders. ↑

4. Source: http://www.intellectualdisability.info/changing-values/history-of-downs-syndrome ↑

5. Prader-Willi syndrome is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural problems. It’s usually noticed shortly after birth. Often, affected individuals have a narrow forehead, small hands and feet, short height, light skin and hair. Most are unable to have children. The syndrome is caused by missing genetic material in a group of genes on chromosome number 15. ↑