Physicians, Public Discourse, and Passive Euthanasia of Infants with Down Syndrome in the Late-Twentieth Century.

Through the late-twentieth century, physicians endorsed the denial of life-saving surgeries to infants because they had Down syndrome. Grim physician assessments of the inevitable burden of Down syndrome found ideological footing in the 1970s crusade to eradicate the condition, a public health goal made possible by new genetic diagnostics and a weakened abortion law. What is most striking about this physician-sanctioned passive euthanasia is that it persisted even in an era of unprecedented expansion of disability rights. Physician endorsement of the euthanasia of infants with Down syndrome offers a powerful corrective to the notion that post-war Canada was marked by waning support for eugenics. Medically sanctioned euthanasia of babies because of their Down syndrome, eugenics of the most extreme type, thrived in late-twentieth century Canada.

Jusqu'à la fin du vingtième siècle, les médecins ont approuvé le refus de pratiquer des interventions chirurgicales vitales sur des nourrissons parce qu'ils étaient atteints du syndrome de Down. La sombre évaluation par les médecins du fardeau inévitable qu'entraînait le syndrome de Down a trouvé un fondement idéologique dans la croisade des années 1970 pour éradiquer la maladie, un objectif de santé publique rendu possible par les nouveaux diagnostics génétiques et grâce à une loi sur l'avortement moins sévère. L'aspect le plus frappant de cette euthanasie passive sanctionnée par les médecins est qu'elle a persisté à une époque d'expansion sans précédent des droits des personnes handicapées. L'approbation par les médecins de l'euthanasie des nourrissons atteints du syndrome de Down apporte un puissant correctif à l'idée que le Canada de l'après-guerre a été caractérisé par une baisse du soutien à l'eugénisme. L'euthanasie médicalement sanctionnée de bébés en raison du syndrome de Down, c'est-à-dire l'eugénisme le plus extrême, a au contraire prospéré dans le Canada de la fin du vingtième siècle.

"The Hopkins Mongol Case": The Dawn of the Bioethics Movement.

One of the earliest controversies in the modern history of bioethics was known at the time as "the Hopkins Mongol case," involving an infant with Trisomy 21 and duodenal atresia whose parents declined to consent to surgery. Fluids and feeding were withheld, and the infant died of dehydration after 15 days. The child's short life had a profound impact on the author's career and that of several others and ultimately led to changes in the care of children and adults with disabilities and the way difficult end-of-life decisions are made in US hospitals today. It also contributed to the growth of the modern bioethics movement and scholarship focused on pediatric bioethics issues.

Growth curves for French people with Down syndrome from birth to 20 years of age.

We present new and complete growth charts for 2,598 healthy French children and adolescents with Down syndrome (DS) from 0 to 20 years old, obtained with highly reliable statistical methods. This study is retrospective and addresses data collected over a period of 12 years, monocentric and with a satisfactory representation of the population nationwide. Final occipito-frontal circumference (OFC) is at the fifth percentile compared to WHO charts, with a drop between 12 and 18 months. Final height is at the first percentile compared to WHO charts for girls and boys with two periods of reduced growth velocity: before 36 months and around puberty. We observed no pubertal growth peak for girls. For boys, pubertal growth peak showed to happen earlier and to be less significant than in the general population. When compared to a previous French study with people affected with DS, pubertal growth acceleration begins at a later age for girls and boys; girls in our study are taller at age 15 (+5 cm), but there is no difference for boys at this age. Overweight is more frequent compared to the typical French population. Mean body mass index (BMI) rises rapidly above the 75th percentile of typical French children as early as age 4, with an earlier age for precocious adiposity rebound. The second period for rapid increase of BMI is around 14 years old. When compared to a previous French study with DS, we did not observe any BMI increase, at least up to the age of 14.

The discovery of Alzheimer-causing mutations in the APP gene and the formulation of the "amyloid cascade hypothesis".

The cloning of APP and genetic analysis of families with Alzheimer's disease were both reported in 1987 and much present work on the disease is based upon the foundations laid at that time. Progress was not smooth, however, and many errors were made. In this memoir, I lay out both the progress and the errors.

Mosaicism for trisomy 21: a review.

The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting in mosaicism, the observation of mosaicism in the parents of children with the non-mosaic form of Down syndrome, and the variation in phenotypic outcome for both constitutional and acquired traits present in people with mosaicism for trisomy 21/Down syndrome, including cognition, fertility, and overall phenotypic findings. Additional topics reviewed include the social conditions of people with mosaicism, as well as age-related and epigenetic alterations observed in people with mosaicism for trisomy 21/Down syndrome. .

The human autonomous karyotype and the origins of prenatal testing: children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975.

Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentally altered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics was constructed. The techniques involved became the visual evidence that confirmed a medical examination and were configured as a material culture for redefining health and disease, or the normal and the abnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led to the stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilant medical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping became autonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis, data collected about patients over time contributed to the construction of population figures regarding birth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 at the Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who created the unit, and worked there as well as at other units in the large new hospitals of the national health care system built in Madrid during the mid-1960s and early 1970s.

How genetics came to the unborn: 1960-2000.

Prenatal diagnosis (PND) is frequently identified with genetic testing. The termination of pregnancy for foetal malformation was called 'genetic abortion', in spite of the fact that in many cases the malformation does not result from changes in the genetic material of the cell. This study argues that the 'geneticization' of PND reflected the transformation of the meaning of the term 'genetics' in the 1960s and 70s. Such transformation was linked with the definition of Down syndrome as a genetic condition, and to the key role of search for this condition in the transformation of PND into a routine approach. The identification of PND with the polysemic term 'genetics' was also favoured by hopes that cytogenetic studies will lead to cures or prevention of common birth defects, the association of genetic counsellors with prenatal diagnosis, and the raising prestige of clinical genetics. In spite of the impressive achievements of the latter specialty, more than fifty years after the first prenatal diagnoses, the main 'cure' of a severe foetal malformation remains the same as it was in the 1960s: the termination of a pregnancy. The identification of PND with genetics deflects attention from the gap between scientists' capacity to elucidate the causes of numerous birth defects and their ability (as for now) to prevent or treat these defects, and favours the maintenance of a powerful regimen of hope.

Prenatal diagnosis: the irresistible rise of the 'visible fetus'.

Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations-amniocentesis, the study of human chromosomes and obstetrical ultrasound-with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals' aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for 'Down risk' assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution.

[Trisomy 21 in visual art]. / La trisomie 21 dans les arts visuels.

In 1866, J. Langdon Down published a paper on "an ethnic classification of idiots" and noted their facial resemblance with individuals of the Mongolian people. In 1959, J. Lejeune, M. Gautier, and R. Turpin demonstrated that the children with Down syndrome had an extra copy of chromosome 21. There is now a debate within the medical literature on the age of trisomy 21 as a disease affecting mankind. Since it was not described before 1866, some authors questioned whether this disease is an old or new condition in humans. Three methods of investigation are useful for demonstrating that trisomy 21 has been present in humans for a long time: the figuration of this condition in historical paintings, figurines, and pottery; its presence in old skeletal remains; and the origin of human chromosome 21 during primate phylogeny. Figurines strongly suggestive of trisomy 21 have been found in the Greco-Roman world, in many Central and South American pre-Columbian cultures, and in Khmer temples. In Europe, during the Renaissance, Italian and Flemish artists represented trisomy 21 in paintings of religious inspiration. Studies on the origin and pathology of chromosome 21 have shown that the ancestral human chromosome 21 arose 30-50 million years ago and that trisomy 21 has existed since time immemorial.

John Langdon Down: Down's syndrome.

When I was a medical student in the 1940's we youngsters were well familiar with the condition called 'Mongolism'. We saw these patients--labelled 'Mongols'--as children in the paediatric clinics, and as older patients on our visits to the local enormous mental hospital during our attachment in psychiatry, where many of them spent the whole of their lives.