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Dermatoglyphics and the persistence of 'Mongolism'.

In 1961, a prestigious group of medical researchers called on their colleagues to stop using the language of 'Mongolism' to describe people with what we now call 'Down's syndrome' (or Trisomy 21). This call responded to new knowledge about the biological basis of Down's syndrome: rather than the product of racial degeneration, as had been hypothesized in the 19th century, the condition was the result of an extra chromosome, dubbed '21'. Yet, despite this plea, the terms 'Mongol' and 'Mongolism' continued in scientific use through the 1960s. Drawing on published and archival materials, I argue that the new knowledge about chromosomes did not rupture older patterns of scientific practice or interpretation, and with them, older terminological habits. The persistence of the language of Mongolism reflects the continuity of a network of older approaches to interpreting the condition within the community of human and medical geneticists, including an enduring diagnostic and interpretive technology, dermatoglyphics. Old networks were not supplanted; they were re-aligned.

Dermatoglyphics↗

ESTIMATES OF INCIDENCE AND PREVALENCE OF MONGOLISM AND OF CONGENITAL HEART DISEASE IN BRITISH COLUMBIA.

There is a need for accurate ascertainment of incidence and prevalence rates of congenital anomalies. In British Columbia the Registry for Handicapped Children and Adults used in conjunction with vital records has proved a valuable source of information. Birth notifications alone cannot be relied upon for incidence data. It was found that seven times as many cases of congenital heart disease were registered subsequently as were reported at birth. The estimated minimal incidence rates of mongolism and congenital heart disease per 1000 live births were 1.46 and 4.75, respectively. The well-known association of maternal age with mongolism was confirmed. Twice as many babies with congenital heart disease (without mongolism) were born to mothers over 39 years of age as would be expected on the basis of the maternal age distribution for all live births in the population. Prevalence estimates of these two diseases compared favourably with other published estimates.

Adult↗

Prevalence of mongolism in Northern Ireland.

An estimate of prevalence of mongolism at birth in Northern Ireland (1960-69 gave a frequency of 2.23 per 1000 livebirths. This figure is considerably higher than from other published sources within the United Kingdom. The estimate was derived by applying mortality experience of a sample of mongols over a recent time period. Mortality among mongols born to older mothers was after one year almost fifty per cent whilst those born to younger mothers was twenty-three per cent. These findings have implications for the viability of future screening programmes.

Adolescent↗

Corneal and superficial conjunctival pigmentation in Eskimos, Mongols, and Caucasians.

Pigmentation was noticed on or round the cornea in 44% of 257 Eskimos (East Greenland) and 25% of 189 Mongols (Japan), but no more than 4% of 795 Caucasians in Denmark. Superficial pigmentation on the bulbar conjunctiva was seen in 58% of Eskimos, 48% of Mongols and 10% of Caucasians. In Eskimos it is in most cases localized nasally (54%). In Caucasians the inferior and superior sites predominate (39% and 30%, respectively). The prevalence in both groups was found to rise with increasing age and to be significantly highest among men. Pigmentation of the cornea alone was most frequent among Mongols (22%). Then followed Eskimos (14%) and Caucasians (2%) in decreasing order. The pigmentation on or round the cornea is independent of iris colour in Caucasians, but is related to melanosis of the bulbar conjunctiva, the caruncle and the plica semilunaris.

Adolescent↗

[On the mental structure of mongolism (author's transl)].

Forty-nine mongol and 48 non-mongol test persons of equivalent age and intelligence were selected and investigated with respect to intelligence components (S-I-T), motoricity (LOS), fine motoricity (KP), memorizing capacity (BA), working tempo (BS) and organization of the perceptual field (MZT). There were significant differences in S-I-T in favor of non-mongols in verbal tasks and in the LOS in favor of the mongoloids in rhythmic tasks. There was a tendency for the mongoloids to have poorer results for working tempo and fine motoricity. The differences in capacity to memorize and organization of perception were not significant.

Adolescent↗

[The mongol who becomes older (author's transl)].

The intensive concern of society, pedagogics and medicine for the child with disturbed development places Down's syndrome in the center of a new and gratifying interest. People from the most diverse disciplines are now concerned with mongoloid children, many simply following the trend of the times. Whoever has the care not only of the mongoloid child, however, but also of adolescents and adults, is very well aware that there are a series of processes in the physical, spiritual and mental development of the child through to adulthood in which an apparently dynamic characteristic is inherent. Alone and concurrently with several factors they produce impairment of family life with which the relatives are no longer able to deal. The question as to the motive for handing over the mongol concerned to an institution or home often cannot be answered. There are numerous reasons which may apply alone or in combination. As the mongol becomes older, his relatives are also becoming older giving rise to further difficulties. The present study shows that the furture of the mongol child, i.e. his puberty, his adolescence and adulthood must be planned carefully and principally require pedagogical, therapeutic, sociological and organizational consideration and measures. At present the future of the patients under our care does not seem by any means secure and ordered. The euphoria which is obligatory in many places is not justified.

Adolescent↗

Developmental aspects of mongolism.

To sum up, the testing of neurological responses in our series lends support to the view that whereas psychomotor retardation is a major factor in the development of mongol babies, hypotonia is at the same time of great importance. Our study is not yet complete nor ready for statistical analysis, but the results so far seem to show that mongol babies are particularly retarded in reactions calling for muscular tone, such as posture in ventral suspension and the traction response. It is hoped that as our study proceeds, comparison of neurological with psychological findings will provide another dimension to the interpretation of results. Also we hope to see by long-term follow-up whether the early neurological testing of mongols is of predictive value as regards later development.

Child Development↗

The fundus in mongolism.

The fundus in 63 eyes of 32 karyotyped patients with mongolism (Down syndrome) was examined by indirect ophthalmoscopy. Common features included a rosy disc associated with a greater than normal number of retinal blood vessels, a generalized attenuation of fundus pigmentation regardless of iris coloration, peripapillary and patchy peripheral areas of pigment epithelial atrophy, and choroidal vascular "sclerosis." These findings are believed to be suggestive but not pathognomonic of mongolism. Eleven eyes of six additional patients were found to have retinal detachment. Eight of these were due to a retinal dialysis and only two could be surgically reattached. Trauma was thought to be an important predisposing factor. Several suggestions for prevention and early diagnosis of this complication are briefly presented.

Adolescent↗

Patterns of genetic polymorphism at the 10 X-chromosome STR loci in Mongol population.

Genetic diversity at 10 X-chromosome STR loci has been approved and widely used for forensic science field. In this paper, we have studied this genetic diversity in various Mongol ethnic group with geographic backgrounds. Allele frequencies of 10 X-chromosome STR loci, including DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789 and DXS101, were obtained from healthy unrelated individuals (53 females and 47 males) of Mongol ethnic group lived in north China. Gene diversity analysis showed that the average heterozygosity was uniformly high (0.687) in the studied population. The coefficient of PIC was 0.99998.

China↗

Brick tea consumption as the cause of dental fluorosis among children from Mongol, Kazak and Yugu populations in China.

Dietary fluoride intake and the prevalence of dental fluorosis were investigated in children from three population groups (mongol, Kazak and Yugu) in Gansu Province, China. The concentration of fluoride in drinking water ranged from 0.11 to 0.32 mg/litre; there was no other fluoride pollution. There was a high prevalence of dental fluorosis-52, 84 and 76% among the Mongol, Kazak and Yugu children, respectively). Dental fluorosis was particularly severe among the Kazak population (severity index: 2.00, 3.05 and 2.57 among the three populations, respectively). Each of the population groups had a long tradition of drinking milk tea made from brick tea water. This milk tea was found to contain high concentrations of fluoride (2.58-3.69 mg/litre). The daily fluorine consumption was 1.36-2.42-times the US RDA of 2.5 mg for children. Regression analysis showed that fluorosis was significantly correlated with the consumption of milk tea made from brick tea water, but not with any other dietary component (including milk).

Adolescent↗

[Morphological and metric aberrations of the hand-bones in patients with mongolism--an x-ray study (author's transl)].

The evaluation of 2758 X-rays of the hands of 1047 patients with mongolism showed some morphological and metric aberrations: We discovered pseudoepiphyses in 82,4%, a brachymesophalangia in 67%, a dysmesophalangia in 4,6% and clinodactyly in 56,4%. The length of the hands of the patients with mongolism is in all ages shorter than in controls; there is also a distinct acromicria. These alterations are interpreted as a sign of the cerebral affection as well as a general aberration of the mesenchyma.

Adolescent↗

Serum globulins and infection in mongolism.

Comparisons are made between a large group of mongols cared for in institutions and their carefully matched controls in respect of (a) serum levels of immuno-gamma-globulin (gammaA, gammaG, and gammaM) and (b) the incidence of pyrexial illnesses over a retrospective five-year period. Male mongols are found to have higher levels of gammaA-globulin than their male controls and a higher incidence of pyrexial illnesses. Otherwise no significant differences were found. The findings are discussed in the light of previous studies.

Adolescent↗

Basal ganglia calcification and psychosis in mongolism.

An 18-year-old mongoloid girl (trisomy 21) of Asian descent presented two symptoms rarely associated with mongolism (Down's syndrome). (1) Brain stem calcification; the first case diagnosed in vivo in mongolism on computerized axial tomography. (2) Hallucinatory psychotic depression; the first case successfully treated, to full recovery from the psychosis, in a mongoloid child with known brain stem calcification. The psychotic depression was related to moderate environmental stress. While being treated in her parent's home, in their native land, for more than 1 year, the psychosis remained unresponsive to tranquilizers. Following hospital admission in the USA, rapid improvement was obtained within a few weeks through intensive milieu therapy.

Adolescent↗

[Syringomas mongolism, Marfan's disease and Ehlers-Danlos' disease].

The authors report a quite unusual case in which an eruption of syringomas, mongolism, Marfan's disease and Ehlers-Danlos' disease were associated. They emphasize the originality of the intricate appearance of syringomas on the ichthyosiform skin due to mongolism. They also stress the importance of the dysplasia of the connective tissue demonstrated by electron microscopy and the cause-effect relationships between the dysplasia of the connective tissue and the syringomas, the former accounting for the latter.

Adenoma↗

Thyroid disease and other maternal factors in mongolism.

One hundred women, who at the age of 35 years or more had had a child with mongolism, were investigated to discover any relation between thyroid disease and autoimmunity and mongolism and to search for other possible etiological factors. They were compared with 100 matched controls. The mothers of mongoloid children had a higher incidence of thyroid disease, either hypo- or hyperactivity (11 compared with three in the control group). The proportion with thyroglobulin antibodies was the same (18.8%) in both groups and mean serum protein-bound iodine levels were similar. There was no difference in reproductive history, diseases other than of the thyroid, frequency of previous pelvic and abdominal x-rays or incidence of infectious hepatitis during the year prior to conception.

Adult↗

Dermatoglyphics in Cuban mongols.

Finger and palm prints of 220 Cuban mongols, all trisomic 21, were statistically compared with those of a group of 400 normal Cuban individuals. The most important dermatoglyphic findings in the patients were: an excess of ulnar loops on the 2nd and 3rd fingers, and radial loops on the 4th and 5th fingers; a paucity of patterns in the thenar/I area; more hypothenar true patterns, specially ulnar loops, higher percentages of patterns in the II and III interdigital spaces with less true patterns in the IV interdigital space; distal position t" of the axial triradius and large atd angles of more than 70 degrees; high values of the main-line index; predominance of radial type of the C line and higher frequencies of type 11 of the D line. The simian crease, especially the complete variety, had more diagnostic value than the Sydney line. Parathenar patterns which did not seem to have been described previously in mongols, were significantly more frequent in the patients than in controls. The results are very similar to those observed in other countries and it seems that the peculiar dermatoglyphic pattern of patients with Down syndrome is not affected by ethnic influences.

Adolescent↗

Turner-mongolism polysyndrome. Review of the first eight known cases.

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.

Abnormalities, Multiple↗