Down Syndrome

Description

What is the actual eponymous medical sign/syndrome/repair/classification…

History

1838 – Jean Etienne Dominique Esquirol (1772-1840), a founder of modern alienism (psychiatry).

1846 – Edouard Onesimus Séguin (1812–1880) was one of the first to outline a complete plan for the training of mental defectives. In his classic 1846 textbook, Séguin discusses the Alpine and lowland forms of cretinism

…furfuraceous cretinism, with its milk-white, rosy, and peeling skin; with its shortcomings of all the integuments, which give an unfinished aspect to the truncated fingers and nose; with its cracked lips and tongue; with its red, ectropic conjunctivae, coming out to supply the curtailed skin at the margin of the lids.

Séguin 1846

1899 – Sutherland and syphilis

1866 – Down original monograph

The great Mongolian family has numerous representatives, and it is to this division I wish, in this paper, to call special attention. A very large number of congenital idiots are typical Mongols. So marked is this that, when placed side by side, it is difficult to believe that the specimens compared are not children of the same parents. The number of idiots who arrange themselves around the Mongolian type is so great, and they present such a close resemblance to one another in mental power, that I shall describe an idiot member of this racial division, selected from the large number that have fallen under my observation. 

The hair is not black, as in the real Mongol, but of a brownish colour, straight and scanty. The face is flat and broad, and destitute of prominence. The cheeks are roundish, and extended laterally. The eyes are obliquely placed, and the internal canthi more than normally distant from one another. The palpebral fissure is very narrow. The forehead is wrinkled transversely from the constant assistance which the levatores palpebrarum derive from the occipito-frontalis muscle in the opening of the eyes. The lips are large and thick with transverse fissures. The tongue is long, thick, and much roughened. The nose is small. The skin has a slight dirty yellowish tinge, and is deficient in elasticity, giving the appearance of being too large for the body. 

Down 1866

1932 – PJ Waardenburg (1886-1979) made the observation that he Down syndrome might be the consequence of a chromosomal abnormality. Five years after the first report of a chromosomal aberration in a mammal (1927), Waardenburg in a monograph on the human eye, that Down’s syndrome resulted from a chromosomal aberration due to non-disjunction

1960 – Jérôme Lejeune (1926-1994) discovered the genetic basis of Down’s syndrome, which he named trisomy 21. Lejeune and his teacher Raymond-Alexandre Turpin (1895-1988), who had long been interested in the disease, demonstrated the connection between dermatoglyphics and the physical and psychic characteristics of the patients.

1961 – The term ‘Mongolism’ had been coined in the 1860s, in the context of debates about the polygenic or monogenic origins of humanity. Down had declared that affected persons were reversions to the Mongols of Asia and that the capacity of Europeans to breed more ‘primitive’ types provided proof that the human species had a single origin. In 1961, a prestigious group of scientists published a joint statement to discourage use of the term ‘Mongolism’ and that such expressions which imply a racial aspect of the condition no longer be used.

It has long been recognised that the terms ‘mongolian idiocy’, ‘mongolism’, ‘mongoloid’ etc as applied to a specific type of mental deficiency, have misleading connotations…Some of the undersigned are inclined to replace the term ‘mongolism’ by such designations as ‘Langdon-Down anomaly’, or ‘Down’s syndrome or anomaly’, or ‘congenital acromicria’. Several others believe that this is an appropriate time to introduce the term ‘trisomy 21 anomaly’ which would include cases of simple trisomy as well as translocations.

Allen et al 1961

Associated Persons

• Jean Etienne Dominique Esquirol (1772-1840)
• Edouard Onesimus Séguin (1812–1880)
• John Langdon Haydon Down (1828 – 1896)
• George Alexander Sutherland (1861-1939)
• Petrus Johannes Waardenburg (1886-1979)
• Jérôme Lejeune (1926-1994)

Alternative names

• Down’s Syndrome
• Trisomy 21
• Mongolism

References

• Esquirol JED. Des maladies mentales considerées sous le rapport médicale, hygiènique et médico-legal. 2 volumes and atlas. Paris: Baillière, 1838: 27.
• Seguin E. Traitement moral, hygiène et éducation des idiots. 1846.
• Down JHL. Marriages in Consanguinity in Relation to Degeneration of Race. Clinical lectures and reports by the medical and surgical staff of the London Hospital, 1866; 3: 224-236.
• Down JHL. Observations on an Ethnic Classification of Idiots, Clinical lectures and reports by the medical and surgical staff of the London Hospital, 1866; 3: 259-262.
• Sutherland GA. Mongolian Imbecility in Infants. Practitioner 1899; 63: 632-642.
• Stevens HC. Mongolian Idiocy and Syphilis. JAMA 1915; 1636-1640.
• Waardenburg PJ. Das menschliche Auge und seine Erbanlagen. Nijhoff, 1932: 42-44
• Turpin R, Lejeune J. Dermatoglyphic study of the palms of mongolian idiots and of their parents and siblings. La semaine des hôpitaux. 1953; 29(76): 3955-3967.
• Lejeune J, Turpin R, Gautier M. Le mongolisme, maladie chromosomique. (trisomie) [Mongolism; a chromosomal disease (trisomy)]. Bulletin de l’Académie nationale de médecine. 1959; 143(11-12): 256‐265.
• Allen et al. Mongolism. Lancet, 1961; 277(7180): 775
• Allen G. Aetiology of Down’s syndrome inferred by Waardenburg in 1932. Nature. 1974; 250(465): 436‐437.
• Howard-Jones N. On the diagnostic term “Down’s disease”. Med Hist. 1979; 3(1): 102‐104
• Zihni L. Sutherland’s syphilis hypothesis of Down’s syndrome. J Hist Neurosci. 1995; 4(2): 133‐137.
• Desai SS. Down syndrome: a review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997;84(3):279‐285.
• Jordan TE. Down’s (1866) essay and its sociomedical context. Ment Retard. 2000; 38(4): 322‐329.
• Miller FA. Dermatoglyphics and the persistence of ‘Mongolism’. Soc Stud Sci. 2003;33(1):75‐94.
• Scully C, Langdon J, Evans J. Marathon of eponyms: 4 Down syndrome. Oral Dis. 2009;15(6):434‐436.
• Neri G, Opitz JM. Down syndrome: comments and reflections on the 50th anniversary of Lejeune’s discovery. Am J Med Genet A. 2009;149A(12):2647‐2654.
• Rodríguez-Hernández ML, Montoya E. Fifty years of evolution of the term Down’s syndrome. Lancet. 2011; 378(9789): 402.
• Karamanou M, Kanavakis E, Mavrou A, Petridou E, Androutsos G. Jérôme Lejeune (1926-1994): father of modern genetics. Acta Med Hist Adriat. 2012; 10(2): 311‐316.