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.

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. .

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.

From pediatric history. Important personalities in relation to some genetic defects - "trisomies".

The aim of this study is to present a short biography of some important physicians and describe the most prominent differences between trisomy 13, 18 and 21. The authors present the most prominent differences between trisomy 13, 18 and 21. The work of many important physicians, geneticists, has helped in the process of recognition of congenital anomalies. This group of famous persons includes Patau, Edwards and Down.

"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.

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.

Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most recognizable form of mental retardation, appearing in about 1 of every 700 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who reported its clinical description in 1866. The suspected association of Down syndrome with a chromosomal abnormality was confirmed by Lejeune et al. in 1959. Fifty years after the discovery of the origin of Down syndrome, the term "mongolism" is still inappropriately used; persons with Down syndrome are still institutionalized. Health problems associated with that syndrome often receive no or little medical care, and many patients still die prematurely in infancy or early adulthood. Nevertheless, working against this negative reality, community-based associations have lobbied for medical care and research to support persons with Down syndrome. Different Trisomy 21 research groups have already identified candidate genes that are potentially involved in the formation of specific Down syndrome features. These advances in turn may help to develop targeted medical treatments for persons with Trisomy 21. A review on those achievements is discussed.

Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery.

Over the past some 160 years, the study of Down syndrome (DS) went from early efforts of differentiating it from cretinism (Séguin) to its establishment as a specific nosologic category of mental deficiency (Down) and subsequent attempts to infer its cause. DS was known to be an overwhelmingly sporadic disorder, concordant in MZ and discordant in DZ twins and associated with increased maternal reproductive age (Penrose). Beginning in the 1920s and based in part on phenotype analysis and early cytogenetic insights in Drosophilia, several clinicians (Halbertsma, Waardenburg, Bleyer, Fanconi) and the geneticist C.B. Davenport postulated that DS might be due to a chromosome abnormality; only Davenport, with T.S. Painter, made an actual attempt to perform a clinical/cytological study (with inconclusive results). It was only with the application of the methods of Belling (colchicine, squash preparations) and of T.C. Hsu (hypotonic solution) to PHA-treated cell cultures in the mid-late 1950s, that it became possible to study, accurately, the human karyotype and its aberrations, allowing Lejeune et al. and Jacobs et al. in 1959 to discover the cause of DS. Nowadays, aided with powerful molecular methods, it has become possible to attain insights into the pathogenesis of DS based on the study of many duplications/deficiencies of HSA21 in humans and ingeniously constructed cytogenetic rearrangements of MMA16 in the mouse. These suggest a complex epigenetic interaction between genes on HSA21 and many (?most) other genes in the human genome, akin to an attempt at speciation as suggested early during the last century by Blakesly in his work on Datura. Many important ongoing efforts are underway in several countries to understand the developmental biology of DS, offering hope of ultimate amelioration for those averse to pregnancy termination.

Marathon of eponyms: 4 Down syndrome.

The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in Diseases of the head and neck is mainly in specialties dealing with medically compromised individuals (paediatric dentistry, special care dentistry, oral and maxillofacial medicine, oral and maxillofacial pathology, oral and maxillofacial radiology and oral and maxillofacial surgery) and particularly by hospital-centred practitioners. This series has selected some of the more recognized relevant eponymous conditions and presents them alphabetically. The information is based largely on data available from MEDLINE and a number of internet websites as noted below: the authors would welcome any corrections. This paper summarizes data about Down syndrome.

[Fiftieth anniversary of the trisomy 21: return on a discovery]. / Cinquantenaire de la trisomie 21: retour sur une découverte.

Fifty years ago, I was co-author of the first paper asserting the presence of a supernumerary chromosome in Down's syndrome (called "mongolism" in France at that time). This first autosomal chromosomal abnormality was called Trisomy 21. It seemed to me historically interesting to bring my own testimony as an actor in this discovery.

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.