Background: Although maternal serum screening for Down’s syndrome has become routinely available in most obstetric clinics in many countries, few studies have addressed the reasons why women agree to undergo the MSS test.Objectives: The aims of this study were to describe the circumstances in which MSS was offered to pregnant women and their reasons for undertaking it.Methods: Participant observation and in depth interviews were used in this study; specifically, the experiences of women who had a positive result for MSS (...) and who then followed this up with amniocentesis were examined. The interviewees were twenty six mothers aged between 22 and 35 years. The interviews were audio taped and transcribed for analysis. The results were analysed by the constant comparative method.Results: This study identified the reasons on which pregnant women appeared to base their decisions when undergoing MSS. The reasons were first, the recognition that the procedure was a prenatal routine procedure; second, the need to avoid the risk of giving birth to a baby with Down’s syndrome, and third, a trust in modern technology and in the professional authorities.Conclusions: This study offers insights into the informed choice made by women with a positive MSS result. The reasons for undergoing MSS might help health professionals and policy makers to reflect on their practice and this may, in turn, improve the quality of prenatal care during MSS. (shrink)

A study of 78 parents of Down's syndrome children shows that, while most were in favour of abortion for a handicapped fetus, they were divided equally on whether euthanasia (no distinction made between active and passive euthanasia) was an acceptable practice. Only a third considered an average Down's syndrome child could be a suitable candidate for euthanasia. While parents argued that the degree of handicap of the child was the crucial factor in making this decision, in (...) fact the social class of the parents themselves was the only variable which was statistically significantly related to their opinions. Differences arose from the parents' lack of agreement on what constituted a sufficiently severe handicap. (shrink)

Neither the pathogenesis nor the aetiology of Down's syndrome (DS) are clearly understood. Numerous studies have examined whether clinical features of DS are a consequence of specific chromosome 21 segments being triplicated. There is no evidence, however, that individual loci are responsible, or that the oxidative damage in DS could be solely explained by a gene dosage effect. Using astrocytes and neuronal cultures from DS fetuses, a recent paper shows that altered metabolism of the amyloid precursor protein and (...) oxidative stress result from mitochondrial dysfunction.1 These findings are consistent with considerable data implicating the role of the mitochondrial genome in DS pathogenesis and aetiology. BioEssays 24:681–684, 2002. © 2002 Wiley Periodicals, Inc. (shrink)

This article reviews the literature on prenatal screening for Down’s syndrome. To be evidence based, medicine and nursing have to take account of research evidence and also of how this evidence is processed through the influence of prevailing social and moral attitudes. This review of the extensive literature examines how appropriate widely-held understandings of Down’s syndrome are, and asks whether or not practitioners and prospective parents have access to the full range of moral arguments and social evidence on (...) the matter. Highly valued ideals of justice, personal autonomy, parental choice, women’s control over their reproduction and of avoiding harm can all tend towards negative rather than neutral approaches to Down’s syndrome. This article considers how ethics and prenatal screening policies and practice that take greater account of social evidence of disability could use moral arguments that inform rather than determine the choices of people who use prenatal services. (shrink)

Abortion continues to be a moral and ethical dilemma in medicine. While abortions in general have always faced social stigmas, the abortion of fetuses with Down’s syndrome in particular remains the subject of debate across the globe. In India, under the Medical Termination of Pregnancy Act, abortion is legal under prescribed circumstances only till 20 weeks of gestation. Laws for abortion after 20 week of gestation are ill defined. In a recent ruling of the Supreme Court in India, a (...) woman was denied the right to abortion of her 26 week old fetus. With this ruling, India has joined the rest of the world in the debate surrounding abortion laws and the ethics of abortion. (shrink)

Patients with right parietal lesions often deny their paralysis , but do they have "tacit" knowledge of their paralysis? I devised three novel tests to explore this. First, the patients were given a choice between a bimanual task vs a unimanual one . They chose the former on 17 of 18 trials and, surprisingly, showed no frustration or learning despite repeated failed attempts. I conclude that they have no tacit knowledge of paralysis . Second, I used a "virtual reality box" (...) to convey the optical illusion to the patient that she was moving her paralyzed left hand up and down to the rhythm of a metronome, and yet she showed no sign of surprise. Third, I irrigated patient BM′s left ear canal with cold water, a procedure that is known to shift that patient′s spatial frame of reference by stimulating the vestibular system. Surprisingly, this allowed her "repressed" memory of paralysis to come to the surface; she said she had been paralyzed continuously for several days. I suggest that the vestibular stimulation produces these remarkable effects by mimicking REM sleep. These patients also emply a whole arsenal of grossly exaggerated Freudian "defense mechanisms" to account for their paralysis. To explain this, I propose that in normal individuals the left hemisphere ordinarily deals with small, local anomalies by trying to impose consistency but, when the anomaly exceeds threshold, an interaction with the right hemisphere forces a "paradigm shift". A failure of this process, in patients with right hemisphere damage, might partially account for anosognosia. Finally, I present a new conceptual framework that may help link several psychological and neurological phenomena such as Freudian defense mechanisms, vestibular stimulation, anosognosia, memory repression, visual illusions, anterograde amnesia, REM sleep, dreaming, and humor. (shrink)

BackgroundGenetic disorders due to kindred marriages are common medical conditions in Iran; however, the legal aspects of abortion remain controversial. This study was undertaken to determine physicians' opinions regarding the termination of pregnancy for three genetic diseases: thalassemia major, hemophilia, and Down's syndrome.MethodsA questionnaire was administered to selected physicians by stratified random sampling to determine the following: age, gender, knowledge about prenatal diagnosis of diseases in high risk pregnancies, agreement with abortion, recommended gestational age for abortion, and, if (...) opposed to abortion, the reason.ResultsOf 323 physicians, who participated in the study, 91.3(295), 40.6(131), and 78.6%(254) were in agreement and 8.7(28), 59.4(192), and 21.4%(69) were opposed to abortion for thalassemia major, hemophilia, and Down's syndrome, respectively. Among 289 physicians opposed to abortion in respect of each of all three conditions, the following reasons were cited: religion, 18; emotional, 10; quality of care, 23; hope to find a new treatment option in the future, 103; miscellaneous reasons, 6; and a combination of these reasons, 129. Among 680 physicians in agreement with abortion in relation to all of the diseases, 4.6%(31) were agreed with abortion in less than 12 weeks gestation, 79.2%(538) in less than 16 weeks gestation, 5.6%(38) in less than 20 weeks gestation, 2.2%(15) in less than 24 weeks gestation, and 8.4%(58) were agreed with beyond the 24 weeks of gestational age.ConclusionThe majority of physicians were in agreement with abortion for thalassemia major and Down's syndrome because of the overall prognosis, but opposed to abortion for hemophilia. (shrink)

BackgroundGenetic disorders due to kindred marriages are common medical conditions in Iran; however, the legal aspects of abortion remain controversial. This study was undertaken to determine physicians' opinions regarding the termination of pregnancy for three genetic diseases: thalassemia major, hemophilia, and Down's syndrome.MethodsA questionnaire was administered to selected physicians by stratified random sampling to determine the following: age, gender, knowledge about prenatal diagnosis of diseases in high risk pregnancies, agreement with abortion, recommended gestational age for abortion, and, if (...) opposed to abortion, the reason.ResultsOf 323 physicians, who participated in the study, 91.3(295), 40.6(131), and 78.6%(254) were in agreement and 8.7(28), 59.4(192), and 21.4%(69) were opposed to abortion for thalassemia major, hemophilia, and Down's syndrome, respectively. Among 289 physicians opposed to abortion in respect of each of all three conditions, the following reasons were cited: religion, 18; emotional, 10; quality of care, 23; hope to find a new treatment option in the future, 103; miscellaneous reasons, 6; and a combination of these reasons, 129. Among 680 physicians in agreement with abortion in relation to all of the diseases, 4.6%(31) were agreed with abortion in less than 12 weeks gestation, 79.2%(538) in less than 16 weeks gestation, 5.6%(38) in less than 20 weeks gestation, 2.2%(15) in less than 24 weeks gestation, and 8.4%(58) were agreed with beyond the 24 weeks of gestational age.ConclusionThe majority of physicians were in agreement with abortion for thalassemia major and Down's syndrome because of the overall prognosis, but opposed to abortion for hemophilia. (shrink)

It is suggested that the practice of attempting to normalise children with Down 's syndrome by subjecting them to major facial plastic surgery has no therapeutic benefit, and should be seen as mutilating surgery comparable to female circumcision.

Genetic disorders due to kindred marriages are common medical conditions in Iran; however, the legal aspects of abortion remain controversial. This study was undertaken to determine physicians' opinions regarding..

As children with Down syndrome (DS) typically manifest significant delays in language development, the research has pointed out the predictors of later language skills for this clinical population. The purpose of this study was to systematically explore the evidence for early predictors of language outcomes in infants and toddlers with DS from studies published between 2012 and 2022. After the search, nine studies met the inclusion criteria. The results indicated that maternal educational level, adaptive level of functioning, cognitive function, (...) attention skills, communicative intent of the child, early vocalizations, gestures, baby signs, parents’ translation of their children’s gestures into words, and vocabulary level are significant predictors of language outcomes in children with DS. These findings provide a timely and warranted summary of published work that contributes to current understanding of the development of language and communication in DS. They are therefore useful to researchers, clinicians, and families. (shrink)

Most of us want to have children. We want them to be healthy and have a good start in life. One way to achieve this goal is to use preimplantation genetic diagnosis . PGD enables people engaged in the process of in vitro fertilisation to acquire information about the genetic constitution of an early embryo. On the basis of this information, a decision can be made to transfer embryos without genetic defects to the uterus and terminate those with genetic defects.1However, (...) is it morally acceptable to use PGD to reduce the probability of children with severe genetic diseases being born? Is the current routine use of PGD in public healthcare services to select against severe genetic diseases like anencephaly, spina bifida, cystic fibrosis and Down’s syndrome morally acceptable?These are complex questions involving a range of difficult ethical issues—for instance, critical discussions about the morality of embryo research and embryo termination.2 They also involve awkward conceptual issues concerning such matters as the meaning of words such as “disability”3 and “severe” in “severe genetic diseases”,4 which will not be discussed here.In this paper I examine an argument which aims to show that efforts to prevent the birth of severely disabled children using PGD are morally unacceptable. Essentially, this argument appeals to our concern for disabled people and the belief that PGD, through a slippery slope process, will have bad consequences for them. I conclude that the argument is problematic for a number of reasons. But before I examine the argument itself, it will be helpful to separate two types of slippery slope argument since these involve different kinds of reasoning.TWO TYPES OF ARGUMENTMany of the arguments against PGD point to the bad consequences it can be expected to have for disabled people. Central to all these …. (shrink)

OBJECTIVE: We studied and compared the attitudes of pregnant women v new mothers in an attempt to confirm changing patterns of maternal response towards medical ethical decision making in critically ill or malformed neonates. DESIGN: Data were obtained by questionnaires divided into three sections: 1. sociodemographic; 2. Theoretical principles which might be utilised in the decision-making process; 3. Hypothetical case scenarios, each followed by possible treatment options. RESULTS: Pregnant women (n = 545) consistently requested less aggressive medical intervention for the (...) hypothetical cases than did new mothers (n = 250) [Trisomy 18: 57% v 42%; p = 0.0004; Asphyxia: 75% v 63%; p = 0.0017; Down's syndrome 81% v 62%; p = 0.0001; LBW 85% v 75%; p = 0.004]. Significant differences were also observed in the responses to the theoretical principles, with pregnant women attributing less importance to preserving life at all cost, while being more concerned with physical and emotional pain and suffering, with financial cost, and with the infant's potential for future productivity. (shrink)

Objective Routine prenatal screening for Down syndrome challenges professional non-directiveness and patient autonomy in daily clinical practices. This paper aims to describe how professionals negotiate their role when a pregnant woman asks them to become involved in the decision-making process implied by screening.Methods Forty-one semi-structured interviews were conducted with gynaecologists–obstetricians and midwives in a large Swiss city.Results Three professional profiles were constructed along a continuum that defines the relative distance or proximity towards patients’ demands for professional involvement in the (...) decision-making process. The first profile insists on enforcing patient responsibility, wherein the healthcare provider avoids any form of professional participation. A second profile defends the idea of a shared decision making between patients and professionals. The third highlights the intervening factors that justify professionals’ involvement in decisions.Conclusions These results illustrate various applications of the principle of autonomy and highlight the complexity of the doctor–patient relationship amidst medical decisions today. (shrink)

This article critiques how the chromosomal condition ‘trisomy 21’ (‘T21’) (‘Down syndrome’) was originally conceptualised using colonial, scientific and medical discourses on ‘race’ and ‘idiocy’. Nineteenth century discourses surrounding ‘degeneracy’ commonly intertwined the notions of ‘race’ and ‘idiocy’. In Observations of an Ethnic Classification of Idiots, Down categorises people with T21 as ‘Mongolians’ because of their purported similarities to ethnic ‘Mongolians’. The discourse-historical approach (DHA) to critical discourse analysis (CDA) is used in this article to examine how the ‘Mongolian (...) idiot’ is constructed by Down as the ‘other’, being simultaneously a ‘racial other’, a ‘disabled other’, and an ‘idiotic other’. Down theorises that ethnic ‘Caucasians’ with ‘idiocy’ have ‘retrogressed’ to primitive forms as characterised by the ‘Mongolian family’. His report also essentialises the ‘Mongolian idiot’, defining their ‘degeneracy’ and ‘otherness’ in terms of their physical, behavioural, and mental characteristics. Whilst Down’s ‘mongolism’ has since been refuted, aspects of his report are reproduced in some contemporary medical and scientific discourses. Although these discourses are less essentialist than Down’s, they persist in constructing the ‘otherness’ of T21, by foregrounding its ‘abnormalities’ and ‘disorders’. Significantly, facets of ‘degeneracy’ appear in evolutionary developmental biology, connecting T21 with ‘atavisms’, though without the racial framework. (shrink)

DNA topoisomerases are enzymes that can modify, and may regulate, the topological state of DNA through concerted breaking and rejoining of the DNA strands. They have been believed to be directly involved in DNA excision repair, and perhaps to be required for the control of repair as well. The vicissitudes of this hypothesis provide a noteworthy example of the dangers of interpreting cellular phenomena without genetic information and vice versa.

Harvey and Gurvir’s Law is a bill proposed to the Legislative Assembly of Ontario (Canada) to reduce stigma and bias associated with Down syndrome, by developing and disseminating quality information about Down syndrome in the context of prenatal testing.

One of the deepest tensions in Locke’s Essay, a work full of profound and productive conflicts, is one between Locke’s metaphysical tendencies—his inclination to presuppose or even to argue for substantive metaphysical positions—and his devout epistemic modesty, which seems to urge agnosticism about major metaphysical issues. Both tendencies are deeply rooted in the Essay. Locke is a theorist of substance, essence, quality. Yet, his favorite conclusions are epistemically pessimistic, even skeptical; when it comes to questions about how the world is (...) constituted, our understandings cannot penetrate very far. Locke seems torn between metaphysics and modesty, between dogmatism and skepticism. This chapter will consider two specific examples of this sort of tension. The first involves the ontology of body, and the second, the ontology of mind. The conflict concerning bodily natures looks like this: As is well-known, Locke typically describes bodies in the terms of the corpuscularian science of his day, as exemplified especially by the natural philosopher Robert Boyle. Locke’s characterizations of the real essences of bodies are mechanist. He envisions them as corpuscularian textures-- spatial arrangements of particles possessing size. (shrink)

Locke’s metaphysical commitments are a matter of some controversy. Further controversy attends the issue of whether and how Locke adapts his views in order to accommodate the success of Newton’s Principia. The chapter lays out an interpretation of Locke’s commitments according to which Locke’s response to Newton on gravity does not require the positing of brute powers and is consistent with his core essentialism. The chapter raises the question of how the hypothesis concerning the creation of matter, alluded to at (...) 4.10.18, fits with these commitments. The chapter concludes that the De grav hypothesis would represent a significant revision to the background metaphysical picture of the Essay, but that nevertheless its attractions to Locke are intelligible and illuminating. (shrink)

Although George Berkeley himself made no major scientific discoveries, nor formulated any novel theories, he was nonetheless actively concerned with the rapidly evolving science of the early eighteenth century. Berkeley's works display his keen interest in natural philosophy and mathematics from his earliest writings (Arithmetica, 1707) to his latest (Siris, 1744). Moreover, much of his philosophy is fundamentally shaped by his engagement with the science of his time. In Berkeley's best-known philosophical works, the Principles and Dialogues, he sets up his (...) idealistic system in opposition to the materialist mechanism he finds in Descartes and Locke. In De Motu, Berkeley refines and extends his philosophy of science in the context of a critique of the dynamic accounts of motion offered by Newton and Leibniz. And in Siris, Berkeley's flirtation with neo-Platonism draws inspiration from the fire theory of Boerhaave as well as Newton's aetherial speculations in the Queries of the Optics. In examining Berkeley's critical engagement with the natural philosophy of his time, we will thus improve our understanding of not just his philosophy of science, but of his philosophical corpus as a whole. (shrink)

Fisher’s 1918 paper accomplished two distinct goals: unifying discrete Mendelian genetics with continuous biometric phenotypes and quantifying the variance components of variation in complex human characteristics. The former contributed to the foundation of modern quantitative genetics; the latter was adopted by social scientists interested in the pursuit of Galtonian nature-nurture questions about the biological and social origins of human behavior, especially human intelligence. This historical divergence has produced competing notions of the estimation of variance ratios referred to as heritability. Jay (...) Lush showed that they could be applied to selective breeding on the farm, while the early twin geneticists used them as a descriptive statistic to describe the degree of genetic determination in complex human traits. Here we trace the early history of the heritability coefficient now used by social scientists. (shrink)

While De Motu, Berkeley's treatise on the philosophical foundations of mechanics, has frequently been cited for the surprisingly modern ring of certain of its passages, it has not often been taken as seriously as Berkeley hoped it would be. Even A.A. Luce, in his editor's introduction to De Motu, describes it as a modest work, of limited scope. Luce writes: The De Motu is written in good, correct Latin, but in construction and balance the workmanship falls below Berkeley's usual standards. (...) The title is ambitious for so brief a tract, and may lead the reader to expect a more sustained argument than he will find. A more modest title, say Motion without Matter, would fitly describe its scope and content. Regarded as a treatise on motion in general, it is a slight and disappointing work; but viewed from a narrower angle, it is of absorbing interest and high importance. It is the application of immaterialism to contemporary problems of motion, and should be read as such. ...apart from the Principles the De Motu would be nonsense.1.. (shrink)

Working Memory (WM) skills of individuals with Down’s syndrome DS tend to be very poor compared to typically developing children of similar mental age. In particular, research has found that in individuals with DS visuo-spatial WM is better preserved than verbal WM. This study investigated whether is possible to train Short-Term Memory (STM) and WM abilities in individuals with DS. The cases of two teenage children are reported: E.H., 17 years and 3 months, and A.S., 15 years and 11 (...) months. A school-based treatment targeting visuo-spatial WM was given to E.H. and A.S. for six weeks. Both prior to and after the treatment, they completed a set of assessments to measure WM abilities and their performance was compared with younger typically developing nonverbal mental age controls. The results showed that the trained participants improved their performance in some of the trained and non-trained WM tasks proposed, especially with regard to the tasks assessing visuo-spatial WM abilities. These findings are discussed on the basis of their theoretical, educational and clinical implications. (shrink)