"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.

Abordaje integral en la rehabilitación del síndrome de Down: revisión bibliográfica / Integral approach in the rehabilitation of Down syndrome. Bibliographic review

Se realizó una revisión bibliográfica, con el objetivo de actualizar a los profesionales de diferentes disciplinas vinculados directa o indirectamente a los pacientes síndrome de Down; así como a los familiares un enfoque integral e integrador que permita sobrela base de los conocimientos actuales, a la luz de la tecnologías modernas, brindar una atención más especializada con un adecuado enfoque terapéutico desde las edades tempranas. Se realizó una revisión de las bases de datos PubMed, Cumed y Lilacs desde 2010 hasta el 2015, así como sitios Web de instituciones y asociaciones de las Ciencias Biomédicas relacionadas con la temática. Se incluyeron artículos de revisión y artículos originales. La investigación abordó los principales aspectos a tener en cuenta desde sus orígenes, la prevención, factores de riesgo, el diagnóstico, pronóstico, características comunes, enfermedades asociadas y el tratamiento, con la rehabilitación eficaz y oportuna para obtener mejores resultados. Con el estudio se llegó a la conclusión que esta alteración cromosómica es la más frecuente de forma universal, tal como se manifiesta en nuestro municipio. Se logró una actualización en los conocimientos sobre este síndrome, de gran utilidad para los profesionales y la familia(AU)

It was carried out a bibliographic review with the aim of updating the professionals of different disciplines linked directly or indirectly to patients with Down syndrome; as well as to provide the families with a comprehensive and inclusive approach that offers a specialized care with a proper therapeutic approach in early ages on the basis of current knowledge with modern technologies. It was performed a review of PubMed, Lilacs and Cumed databases since 2010 to 2015, as well as websites of institutions and associations of the biomedical sciences related to the topic. Review and original articles were included. The research discussed the main aspects to be considered from the beginning, prevention, risk factors, diagnosis, prognosis, common characteristics, associated diseases and treatment, with the effective and timely rehabilitation for best results. The study came to the conclusion that this chromosomal alteration is the most frequent as it is manifested in our town. An updating was accomplished in the knowledge of this syndrome, useful for professionals and the family(EU)

Neurociencia, discapacidad intelectual y biopolítica / No disponible

El autor explica el concepto de biopolítica, introducido por Foucault, como el conjunto de estrategias de poder que desarrolla el Estado para ejercer un control exhaustivo sobre la vida. Considera que la conducta anormal y/o patológica es en buena medida un producto social y un instrumento de poder, y que el poder utiliza la biopolítica para controlar la felicidad de la gente. No puede negarse que la discapacidad intelectual es un trastorno biológico multifactorial. Lo importante no es el trastorno sino lo que hacemos con la persona que viene a este mundo con él: y aquí sí que intervienen, y mucho, las ideologías, las creencias, los prejuicios y demás artefactos sociales. Pero no es lícito introducir sospechas sobre la neurociencia "a priori" cuando ésta aborda la realidad de la discapacidad. Y por eso, desde la Bioética debemos estar atentos a qué Bioderecho se promulgay de qué manera tratan nuestras autoridades a estas personas (Biopolítica). La Convención de Derechos de las Personas con Discapacidad es un magnífico ejemplo de cuanto el autor expone, porque detrás de ella hay una profunda reflexión bioética, un adecuado ejercicio biopolítico que finalmente fraguaron en un valioso instrumento jurídico

The author conceptualizes on the construct of biopolitics, defined by Foucault as an strategy of the State’s power to control Society’s life. Intellectual disability is a multifactorial biological disorder. Most important is the way to approach this condition without prejudices, and to accept neuroscience contributions to improve some of the disturbances affecting the individual’s life. However, Bioethics, through its influence on the Bio-Law, should always stand as a powerful vigilant to prevent any biopolitical deviations of power that might derived from the misuse of neuroscience

Abordajes farmacológicos para mejorar la función cognitiva en el síndrome de Down: estado actual y consideraciones / No disponible

Es creciente, y a veces acuciante, el interés de familias y profesionales relacionados con el síndrome de Down por conocer los posible beneficios que algunos fármacos pueden reportar sobre la cognición y conducta de las personas con síndrome de Down. Los primeros ensayos clínicos que se están realizando en las personas, y los resultados de los cada vez más frecuentes estudios sobre los modelos animales, han creado una atmósfera de esperanza y, por qué no decirlo, también de ansiedad. A principios del presente mes de enero fue publicada una exhaustiva revisión escrita por la investigadora norteamericana Katheleen J. Gardiner, en la que analiza con detalle todos los resultados obtenidos por diversos fármacos en el modelo de ratón más universalmente utilizado, el ratón Ts65Dn, y explica las posibilidades de que algunos de estos fármacos puedan ser probados en la clínica humana. Ofrecemos un muy amplio resumen en español que, esperamos, dé cumplida respuesta a las actuales inquietudes. Quien desee disponer del trabajo original en inglés y la bibliografía, puede solicitarlos a la dirección de la revista

Over the last several years, very promising results have been obtained with a mouse model of Down syndrome, the Ts65Dn. A diverse array of drugs has been shown to rescue, or partially rescue relevant deficits in learning and memory and abnormalities in cellular and electrophysiological features seen in the Ts65Dn. These results suggest that some levels of amelioration or prevention of cognitive deficits in people with Down syndrome may be possible. We review information from the preclinical evaluations on the efficacy of these drugs, and advance possible applications of some of the studied drugs to clinical trials

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.