Individuals with Down syndrome (DS) are widely believed to possess considerable socialization strengths. However, the findings on social cognition capabilities are controversial. In the present study, we investigated whether individuals with DS exhibit shortage in face tuning, one of the indispensable components of social cognition. For this purpose, we implemented a recently developed Face-n-Food paradigm with food-plate images composed of food ingredients such as fruits and vegetables. The key benefit of such ‘face like non-face’ images is that single (...) elements do not facilitate face processing. In a spontaneous recognition task, 25 children with DS aged 9 to 18 years were presented with a set of Face-n-Food images bordering on the Giuseppe Arcimboldo style. The set of images was administered in a predetermined order from the least to most resembling a face. In DS individuals, thresholds for recognition of the Face-n-Food images as a face were drastically higher as compared not only with typically developing controls, but also with individuals with autistic spectrum disorders and Williams-Beuren syndrome. This outcome represents a significant step towards better conceptualization of visual social world in DS and neurodevelopmental disorders in general. (shrink)

I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' lives.1.

: I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' (...) lives. (shrink)

Brussen, Kerri Anne This article briefly examines the history and genetics of Down syndrome. Contemporary prenatal testing practices are described as is the effect of testing on the birth prevalence of children with Down syndrome. The analysis of a series of articles on families with a child with Down syndrome provides a touching insight into these families. It demonstrates that each person - including those with Down syndrome - make a unique and (...) valuable contribution to their family and the world. (shrink)

S100 protein is a low molecular weight calcium‐binding protein widely distributed in the central nervous system of vertebrates. Recent evidence suggests that S100 protein may play a role in the regulation of glial proliferation and neuronal differentiation. The gene for S100 protein has been mapped to the 21q22 region, a chromosomal locus whose duplication has been implicated in the generation of Down Syndrome (DS). This raises the possibility that abnormalities in S100 protein gene dosage at a critical period (...) during development may be responsible for some of the neurologic abnormalities associated with DS. (shrink)

Down syndrome (DS), the most common genetic cause of intellectual disability, results from the partial or complete triplication of chromosome 21. Individuals with DS are impaired at using a high-resolution, allocentric spatial representation to learn and remember discrete locations in a controlled environment. Here, we assessed the capacity of individuals with DS to perform low-resolution spatial learning, depending on two competing memory systems: (1) the place learning system, which depends on the hippocampus and creates flexible relational representations of (...) the environment; and (2) the response learning system, which depends on the striatum and creates fixed stimulus-response representations of behavioral actions. Individuals with DS exhibited a preservation of the low-resolution spatial learning capacities subserved by these two systems. In place learning, although the average performance of individuals with DS was lower than that of typically-developing (TD) mental age-matched children and TD young adults, the number of individuals with DS performing above chance level did not differ from TD children. In response learning, the average performance of individuals with DS was lower than that of TD adults, but it did not differ from that of TD children. Moreover, the number of individuals with DS performing above chance level did not differ from TD adults, and was higher than that of TD children. In sum, whereas low-resolution place learning appears relatively preserved in individuals with DS, response learning appears facilitated. Our findings are consistent with the hypothesis that the neural pathways supporting low-resolution place learning and response learning are relatively preserved in DS. (shrink)

The historical-cultural theory of Intellectual Disability overcompensation/compensation is referenced in several studies, but little empirical evidence is presented to corroborate this thesis. In this work, 13 current studies were analysed about the behavioural profile of people with Down syndrome, a case of neurobiological ID, published in the last 15 years, in order to verify the possibility of dialogue with the theorizing about compensation. Despite contributing to an up to date understanding of DS, the results point to similarities between (...) different scientific traditions allowing discussions regarding methodologies, data interpretation, language comprehension, and the impact of the studies for school inclusion and the development of people with ID/DS. It is concluded that the theorization in question is pertinent to developmental studies, dialogues with other perspectives and that its progress depends on investigations directed to the affective motivators/emotions of the person with ID/DS by means of more interpretative methodologies. Keywords: Down syndrome, compensation, behavioural profile, Intellectual Disabilities Development. (shrink)

Down syndrome (Trisomy 21) is a mild to moderate intellectual disability. Historically, this condition has been a primary target for prenatal testing. However, Down syndrome has not been targeted for prenatal testing because it is an especially severe illness. The condition was just one that could be easily identified prenatally using the techniques first available decades ago. We are moving into an era in which we can prenatally test for a vast range of human traits. I (...) argue that when we can test for anything, there is no longer any reason to continue targeting Down syndrome. I present an argument based on the value of nondiscrimination. It is justified to set limits on access to prenatal information if the information is going to be used for discriminatory purposes. I use the examples of (1) prenatal testing for misogynistic fetal sex selection, and (2) homophobia-motivated prenatal testing for potential homosexuality, as compelling analogies. (shrink)

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.

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)

Sequenom Inc., a developer of medical diagnostic products, recently made their noninvasive test for Down syndrome available for clinical practice.1 The DNA-based test—given the name “MaterniT21”—requires only a simple maternal blood sample as early as 10 weeks of gestation. In recent clinical trials involving thousands of pregnant women, the MaterniT21 test identified 99.1% of cases of Down syndrome, and gave the correct result in 99.9% of cases when the fetus did not have Down syndrome. (...) Sequenom’s test is thought to be an improvement on previous prenatal testing techniques because of its. (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)

Two experiments are reported that evaluated route learning of youth with DS, youth with Intellectual Disability and not DS (ID), and typically developing children (TD) matched on Mental Age (MA). In both experiments, participants learned routes with eight choice-points presented via computer. Several objects were placed along the route that could be used as landmarks. Participants were shown the correct route once and then were asked retraced the route without assistance. In Experiment 1 we found that the TD children and (...) ID participants performed very similarly. They learned the route in the same number of attempts, committed the same number of errors while learning the route, and recalled approximately the same number of landmarks. The participants with DS performed significantly worse on both measures of navigation (attempts and errors) and also recalled significantly fewer landmarks. In Experiment 2, we attempted to reduce TD and ID vs DS differences by focusing participants’ attention on the landmarks. Half of the participants in each group were instructed to identify the landmarks as they passed them the first time. The participants with DS again committed more errors than the participants in the ID and TD groups in the navigation task. In addition, they recalled fewer landmarks. While landmark identification improved landmark memory for both groups, it did not have a significant impact on navigation. Participants with DS still performed more poorly than did the TD and ID participants. Of additional interest, we observed that the performance of persons with DS correlated with different ability measures than did the performance of the other groups. The results the two experiments point to a problem in navigation for persons with DS that exceeds expectations based solely on intellectual level. (shrink)

Det er muligens ikke lenger et spørsmål om, men når mennesker med Downs syndrom ikke lenger finnes blant oss. Moderne medisinsk teknologi brukt i masseundersøkelser av gravide, tilsier at det nesten ikke behøver å bli født mennesker med Downs syndrom i fremtiden. I den politiske debatten i flere av de nordiske landene er dette kontroversielt. Det handler om et samfunn der det er plass til alle, hevdes det. På samme tid tas moderne genteknologi i bruk for bl.a. å forhindre at (...) mennesker disponert for Huntingtons sykdom eller arvelig brystkreft blir født. Om noen generasjoner kan slike sykdommer være utryddet. Dette påkaller imidlertid ikke henvisninger til «sortering» og «seleksjon». I denne artikkelen undersøkes de viktigste forutsetningene for hvorfor fosterdiagnostikk på noen indikasjoner vekker etisk debatt, mens det ikke skjer i andre tilfeller. Det argumenteres for at den medisinske forståelsen av alvorlighetsgrad ved en sykdom/funksjonshemming ikke gir oss nøkkelen til å forstå den etiske bekymringen rundt seleksjon. Identitets- og anerkjennelsesproblematikk, hevdes det, er kjernen i kontroversene rundt fosterdiagnostikk i Norden. Derfor står det noe vesentlig på spill i fosterdiagnostikkdebatten. Men bare for noen grupper. (shrink)

Two experiments are reported that evaluated survey learning of youth with DS and typically developing children (TD) matched on Mental Age (MA). In Experiment 1, the experimenter navigated participants through a novel virtual environment along a circuitous path, beginning and ending at a target landmark (i.e., a door). Then, the participants were placed at a pre-specified location in the environment and instructed to navigate to the same door using the shortest possible path from their current location. They completed the task (...) three times: once after being shown the environment one time, once after three exposures, and once after five exposures. Results indicated that the participants with DS exhibited significantly less skill at identifying the shortcut than did the TD participants. In Experiment 2, participants learned two overlapping routes through a simple environment. Following acquisition, they were tested on several measures of survey knowledge: finding a shortcut, identifying the direction of landmarks not currently visible from their location in the environment, and recognizing a bird’s-eye representation of the overall environment. The results of Experiment2 indicated that the participants with DS were at least as good as the TD participants on all of our measures of survey learning. Hence, we concluded that people with DS can acquire some survey knowledge when they learn a simple environment. However, the performance of both groups was relatively poor in Experiment 2, indicating a need to consider identifying the mechanisms underlying the poor performance on wayfinding of people with DS. Identifying the underlying mechanisms, is a logical first step in devising methods of enhancing environmental learning of people with DS. (shrink)

Decision-making regarding treatment for newborns with disabilities in resource-poor settings is a difficult process that can put parents and caregivers in conflict. Despite several guidelines that have helped to clarify some of the medical decision-making in Ghana, there is still no clear consensus on the specific moral criteria to be used. This article presents the case of a mother who expressed her wish that her child with Down syndrome should not have been resuscitated at birth. It explores the (...) ethical issues at stake in both her misgivings about the resuscitation and her unwillingness to consider surgical repair of an atrioventricular (AV) canal defect. Knowing that children born with Down syndrome are able to pursue life’s goals, should our treatment of complete AV canal defect in such children be considered morally obligatory, even in resource-poor settings like Ghana? (shrink)

Although the abortion of fetuses with Down syndrome has become commonplace, infanticide is still widely rejected. Generally, there are three ways of justifying the differentiation between abortion and infanticide: by referring to the differences between the moral status of the fetus versus the infant, by referring to the differences of the moral status of the act of abortion versus the act of infanticide, or by separating the way the permissibility of abortion is justified from the way the impermissibility (...) of infanticide is justified. My argument is that none of these ways justifies the abortion of fetuses diagnosed with Down syndrome while simultaneously rejecting infanticide. Either the justification for abortion is consistent with infanticide, or it is implausible to justify abortion while rejecting infanticide. I conclude the article by making some preliminary remarks about how one might manage the situation posed by my argument. (shrink)

We describe an exploratory case study about the applicability of different robotic platforms in an educational context with a child with Down syndrome. The robotic platforms tested are the humanoid robot KASPAR and the mobile robotic platform IROMEC. During the study we observed the effects KASPAR and IROMEC had in helping the child with the development and improvement of her social skills while playing different interactive games with the robots. Conceptually similar play scenarios were performed with both robots (...) and the behaviour of the child was monitored during her interactions with them. (shrink)

Analyzing navigational abilities and related aspects in individuals with Down syndrome is of considerable interest because of its relevance to everyday life. This study investigates path learning, the conditions favoring it, and the cognitive abilities involved. A group of 30 adults with DS and 32 typically-developing children matched on receptive vocabulary were shown a 4 × 4 Floor Matrix and asked to repeat increasingly long sequences of steps by walking on the grid. The sequences were presented under two (...) learning conditions, one called Oral instructions, the other Observation. Participants were also assessed on verbal and visuospatial cognitive measures. The results showed a similarly better performance in both groups when the Floor Matrix task was administered in the Observation as opposed to the Oral instructions condition. As for the relation with cognitive abilities, in the Floor Matrix task in the Oral instructions condition, individuals with DS showed an effect of both verbal and visuospatial abilities, which was only positive for verbal ability. The effect of verbal and visuospatial abilities was negligible in the TD group. In the Observation condition, performance was predicted by sequential working memory in both groups. Overall, these results shed light on path learning in individuals with DS, showing that they benefited from the Observation condition, and that the involvement of their cognitive abilities depended on the learning condition. (shrink)

In the context of comparing linguistic profiles across neurodevelopmental disorders, Down syndrome has captured growing attention for its uneven profile. Although specific weaknesses in grammatical and phonological processing have been reported, research evidence on phonological development remains scarce, particularly beyond early childhood. The purpose of this study was to explore the phonological profiles of children and adolescents with Down syndrome. The profiles were based on the frequency and relative proportion of the processes observed by classes, and (...) they were compared to those of typically developing preschool children of similar verbal age. A complementary goal was to assess the effect of two different methods of elicitation: a test of articulation and spontaneous speech sampling. Finally, intergroup and intragroup differences in full match percentages between three positions at syllable-level were assessed. The results of the present study confirmed that the frequency of phonological processes in children and adolescents with DS is atypically high and is above what is expected for lexical age and at the same level as grammatical age. Highly increased frequency of processes, consistent in all kinds of processes and positions at the syllable-level, and asynchronous with verbal age and mental age suggest atypical developmental trajectories of phonological development in the Down syndrome population. (shrink)

We describe an exploratory case study about the applicability of different robotic platforms in an educational context with a child with Down syndrome. The robotic platforms tested are the humanoid robot KASPAR and the mobile robotic platform IROMEC. During the study we observed the effects KASPAR and IROMEC had in helping the child with the development and improvement of her social skills while playing different interactive games with the robots. Conceptually similar play scenarios were performed with both robots (...) and the behaviour of the child was monitored during her interactions with them. (shrink)

Sleep is a major concern, especially in people with Down Syndrome. Beyond Obstructive Sleep Apnea, a number of other sleep difficulties have been reported in children with DS, such as delayed sleep onset, night-time awakenings, and early morning awakenings. The detrimental effect of sleep difficulties seems to contribute to and exacerbate the cognitive and behavioral outcomes of DS. Although the screening for sleep disorders is recommended early in age in DS, only a few studies have evaluated the sleep (...) profile in preschool-age children with DS. The aim of the current study was to assess the association between sleep disturbances and behavioral problems in a group of preschool-age children with DS, by means of a feasible and easy-to-administer parent-report questionnaires. Seventy-one preschool-age children with DS, ranging in age from 3 to 5.11 years, were included in this retrospective study. Sleep disturbances were evaluated by means of the Sleep Disturbance Scale for Children, while emotional and behavioral problems by means of the Child Behavior Checklist. Sleep breathing disorders were the most frequent sleep difficulties reported by parents. Moreover, children with clinical scores in total sleep problems exhibited elevation of psychopathological symptoms, namely Total problems, Affective problems, Anxiety problems, Pervasive Developmental Problems, and Attention Deficit/Hyperactivity Problems. The identification of the broader connection between sleep difficulties and emotional and behavioral problems in preschool-age children with DS leads to important considerations for intervention. (shrink)

Using birth stories as our object of inquiry, this article examines the ways in which normative discourses about gender, disability and Down syndrome construct the birth stories of three mothers of children with Down syndrome. Their stories are composed of the mothers’ recollections of the first hours after birth as a time when their infants are separated from them and their postpartum needs are ignored. Together, their stories illustrate socio-cultural tropes that position Down syndrome (...) as a dangerous form of the “other” and mothers who give birth to children with Down syndrome as implicated in transgressing cultural norms. (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)

Recently published data from the UK pointed out that the number of abortions performed under Ground E of the Abortion Act 1967, which allows abortion for foetal abnormalities, was far lower compare...

This narrative symposium examines the relationship of bioethics practice to personal experiences of illness. A call for stories was developed by Tod Chambers, the symposium editor, and editorial staff and was sent to several commonly used bioethics listservs and posted on the Narrative Inquiry in Bioethics website. The call asked authors to relate a personal story of being ill or caring for a person who is ill, and to describe how this affected how they think about bioethical questions and the (...) practice of medicine. Eighteen individuals were invited to submit full stories based on review of their proposals. Twelve stories are published in this symposium, and six supplemental stories are published online only through Project MUSE. Authors explore themes of vulnerability, suffering, communication, voluntariness, cultural barriers, and flaws in local healthcare systems through stories about their own illnesses or about caring for children, partners, parents and grandparents. Commentary articles by Arthur Frank, Bradley Lewis, and Carol Taylor follow the collection of personal narratives. (shrink)

Much of recent medical, legal, and ethical focus has been directed toward the unborn or newly born. Guidelines and frameworks for decision making are in the early stages of evolution and are likely to shift as the politics, ethics, and economics of caregiving move beyond technologic accomplishments and debates into a more compassionate construct that may include input from an institutional bioethics committee. Beyond that, the courts may continue to be the place where unresolved issues are settled, and with each (...) passing year new and often divergent legal decisions are being generated that further complicate the physician's role as care giver and healer. (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)

Donald Alexander Downs, More Than Victims: Battered Women, the Syndrome Society, and the Law Chicago: University of Chicago Press, 1996. Pp. xi + 309.