Last week, the New England Journal of Medicine published the results of a large trial on the reliability of screening for Down Syndrome. Now women at just 11 weeks gestation can learn if the fetus they’re carrying has the disorder.
More information can be a good thing — giving some mothers time to prepare for a disabled child, helping others decide to abort while it’s safer and less traumatic. But the decision is never easy, as this poignant Washington Post reporter describes.
We wanted to look back at the first recognition of humanity’s most common chromosomal abnormality. Not surprisingly, it didn’t start with John Haydon Langdon-Down:
The deviation is registered in all races and affects both sexes. The term mongolism comes from the upward slanting eyes which give the impression of an oriental person. The typical phenotype is recognisable in pictures from the middle ages.
When Down in 1866 described the syndrome that bears his name he was surprised that it had not been described earlier. Later investigations in medical history, however, have proved him wrong. The first description was made in 1838 by Jean Etienne Dominique Esquirol (1772-1840), a founder of modern alienism. Another clinical description was made by Édouard Séguin (1812-1880) in 1844. Langdon Down did a more elaborate description in 1866. The chromosome aberration was discovered in 1959 by the French human geneticist Jérôme Jean Louis Marie Lejeune (1926-1994).
Of course, recognition of Down features predates the medicial inquiry into their origin. Several years ago, psychiatrist Andrew Levitas and geneticist Cheryl Reid made an interesting discovery:
We have identified a 16th-century Flemish Nativity painting in which one angelic figure appears distinctly different from other individuals in the painting with an appearance of Down syndrome. Several prior observers have identified Down syndrome in premodern art, sometimes stimulating ongoing discussions concerning its history, its prevalence, and its relationship to hypothyroidism. This may be one of the earliest European representations of Down syndrome. The depiction of an individual with Down syndrome as an angel raises several questions regarding the status of such an individual in late medieval times and societal recognition of minor anomalies, as contrasted with major malformations, in their predictive value for disabilities.
The painting, The Adoration of the Christ Child, hangs in New York’s Metropolitan Museum of Art and is reproduced above. A key detail is available online (along with a nice biography of Down and his founding of Normansfield Hospital) In BMJ coverage of the article, Levitas is quoted as saying:
“It is possible that those with milder degrees of mental handicap were not recognised as having what we now call mental retardation; individuals who were perceived as being slightly slow, in contrast to those with severe handicaps, might have been fully integrated into society. In this context, a surviving teen or adult with Down’s syndrome, no life-threatening malformations, and relatively high intellectual function might not have been recognised as sufficiently different to warrant unusual treatment in a social context.
“Thus, the individual or individuals in this painting could have been only mildly affected, or mosaic. He or she, or they, could well have been beloved or at least accepted in a family or village group, even a member of the unknown artist’s family.
“After all the speculations, we are left with a haunting late-medieval image of a person with apparent Down syndrome with all the accoutrements of divinity. It is impossible to know whether any disability had been recognised or whether it simply was not relevant in that time and place.”
Given the fixed rate of trisomy 21 across races, and the age-related maternal component, one might expect more Down Syndrome babies as mothers wait longer before pregnancy. But that’s not the case. In a trend first noticed in the 1970′s, increasing prenatal diagnosis, coupled with wider access to abortion, has resulted in a decline in the incidence of Down Syndrome.
In fact, some regions are reporting a 90% decrease in the incidence of Down Syndrome in recent decades. Another writer in the Washington Post eloquently looked at the toll of this trend, on the experience with her Down Syndrome daughter.
A 90% decrease in the incidence of a disease would ordinarily be considered a triumph. But, like deafness and other differently-abled people, Down sufferers and their families many not view themselves as diseased. The historical perception is ambiguous on whether they were seen as angels, imbeciles, or fellow people. But trends suggest the time is coming when Down Syndrome patients aren’t seen, at all.
That’s all for this week. Have a safe and healthy weekend.
Note: “The good old days” is the title of our weekly medical history piece. It’s sometimes meant tongue-in-cheek, or to point out the great progress medicine has made over the years. The title is not meant to be taken as an editorial position.
