MONGOLISM. — Mongolism or Langdon-Down syndrome (1866) is a condition of considerable delay in physical and mental development, congenital but not hereditary; it owes its name to the fact that the faces of affected children resemble the Mongolian type. Curschmann (1938) distinguished two varieties: Malay and Eskimo.
At birth, mongolism occurs in a proportion of approximately 1 per thousand, without distinction of race, social class, or sex; among the ancestors, syphilis and tuberculosis are frequent, whereas mental and nervous defects seem to be rarer. The influence of the mother’s relatively advanced age is well known; often the mongoloid child is the last of a numerous offspring. The cause of this disease of growth (ausopathy) may be said to remain a matter of hypotheses.
Anatomical-clinical features: small cerebral hemispheres, with simple and coarse convolutions and a wide Sylvian fissure (thin cortex poor in cells, scant development of the tangential fibres); thyroid often normal; pituitary gland poor in eosinophilic cells; almond-shaped eyes with narrow palpebral fissures and epicanthus (a vertical fold of skin) at the inner angle (with frequent blepharitis, strabismus, and myopia); flattened cheekbones; small, half-open mouth, with thick lips; large and furrowed tongue, teeth altered in form and development; vaulted, ogival palate; broad and flattened nasal root; upper part of the auricle strongly flattened; frequent microbrachycephaly; stature below normal; during childhood, marked muscular hypotonia with great laxity of the joints, regressing with age; umbilical hernias are frequent; pronounced hypogenitalism, whereas hypothyroidism is observed only in mixed types (mongolism + myxoedema); delayed walking. Mentally: oligophrenia generally remaining within the limits of imbecility, that is, at a mental age below 9 years; speech always defective, agrammatical, and poor; affectivity fairly well developed, attention very labile; weak memory. In general, the patient remains little amenable to discipline and instruction; exceptionally, the development of intelligence may reach the degree of “mental weakness.”
Mortality is high: 50% of mongoloids die during the first year of life, barely one quarter reach puberty, and only 10% reach the age of 25; death is most often due to an affection of the respiratory tract, especially tuberculosis, to which the mongoloid appears particularly predisposed. Mongolism is unaffected, or only very slightly affected, by medical and educational treatment. The capacity for understanding and willing, and correspondingly, legal and moral responsibility, are proportional to the degree of the patient’s mental impairment (v. FRENESIA).
5 (1938), p. 7; R. Nyssen, Le mongolisme, in Traité de médecine, XVI, Paris 1949, p. 309; N. Pende, Trattato di endocrinologia, 3ª ed., Milan 1949; E. Tatafiore, E il m. una malattia inguaribile?, in Progressi di terapia, 36 (1951), p. 18. Bruno Callieri