In Kise and Ngyuen’s “Adult Baby Syndrome and Gender Identity Disorder” (2011), the authors refer to their male subject as “Ms B” because he prefers to identify with being a female. But they do not refer to her as being a baby, even though the subject also prefers to identify with being a baby. This shows that although they respect the subject’s gender identity preferences, they do not respect the subject’s age identity preferences. One reason (...) for this might be that some people feel the term “adult baby syndrome” sounds a bit silly and therefore that the wishes of someone having this syndrome are not worthy of being taken seriously, not as seriously, at least, as someone who shows the more scientifically respectable gender identity disorder. A solution here might be to replace the term “adult baby syndrome” with the term “age identity disorder”, perhaps involving “age dysphoria”. This would also be more accurate because not all of those who are discussed under the heading of “adult baby syndrome” wish to be identified as babies, but rather as toddlers or older children. The problem then is that numerous people prefer to identify with being a different age. Such people do not believe they are older or younger than they really are, but neither do those with adult baby syndrome. (shrink)

Maternal opioid use during pregnancy is a growing national problem and can lead to newborns developing neonatal opioid withdrawal syndrome soon after birth. Recent data demonstrates that nearly every 15 min a baby is born in the United States suffering from NOWS. The primary treatment for NOWS is opioid replacement therapy, commonly oral morphine, which has neurotoxic effects on the developing brain. There is an urgent need for non-opioid treatments for NOWS. Transcutaneous auricular neurostimulation, a novel and non-invasive (...) form of electrostimulation, may serve as a promising alternative to morphine. tAN is delivered via a multichannel earpiece electrode worn on and around the left ear, targeting two cranial nerves—the vagus and trigeminal nerves. Prior research suggests that auricular neurostimulation exerts an anxiolytic effect on the body by releasing endogenous opioids and reduces withdrawal symptoms in adults actively withdrawing from opioids. In this first-in-human prospective, open-label trial, we investigated tAN as an adjuvant to morphine therapy in eight infants >33 weeks gestational age suffering from NOWS and receiving oral morphine treatment. Infants received tAN for 30 min 1 h before receiving a morphine dose. tAN was delivered at 0.1 mA below perception intensity at two different nerve targets on the ear: Region 1, the auricular branch of the vagus nerve; and Region 2, the auriculotemporal nerve. tAN was delivered up to four times daily for a maximum of 12 days. The primary outcome measures were safety [heart rate monitoring, Neonatal Infant Pain Scale, and skin irritation] and morphine length of treatment. tAN was well-tolerated and resulted in no unanticipated adverse events. Comparing to the national average of 23 days, the average oral morphine LOT was 13.3 days and the average LOT after tAN initiation was 7 days. These preliminary data suggest that tAN is safe and may serve as a promising alternative adjuvant for treating NOWS and reducing the amount of time an infant receives oral morphine. (shrink)

Exploring the early development of an area of medical literature can inform contemporary medical debates. Different methods of inference include deduction, induction, abduction, and inference to the best explanation. I argue that early shaken baby research is best understood as using abduction to tentatively suggest that infants with unexplained intracranial and ocular bleeding have been assaulted. However, this tentative conclusion was quickly interpreted, by some at least, as a general rule that infants with these pathological signs were certainly cases (...) of abuse. Rather than focusing on inductive arguments, researchers today may be better off focusing on making a compelling inference to the best explanation. (shrink)

Bowler, Gardiner, and Grice have shown a small but significant impairment of autonoetic awareness or remembering involved in the episodic memory experiences of adults with Asperger’s syndrome. This was compensated by an increase in experiences of noetic awareness or knowing. The question remains as to whether the residual autonoetic awareness in Asperger individuals is qualitatively the same as that of typical comparison participants. Three experiments are presented in which manipulations that have shown differential effects on different kinds of conscious (...) awareness in memory in typical populations are employed with a sample of adults with Asperger’s syndrome. The results suggest that the experiences of remembering reported by such individuals, although reduced in quantity, are qualitatively similar to those seen in the typical population. The results are discussed in the context of current theories of awareness in episodic memory. (shrink)

A leading cognitive scientist argues that a deep sense of good and evil is bred in the bone. From John Locke to Sigmund Freud, philosophers and psychologists have long believed that we begin life as blank moral slates. Many of us take for granted that babies are born selfish and that it is the role of society—and especially parents—to transform them from little sociopaths into civilized beings. In Just Babies, Paul Bloom argues that humans are in fact hardwired with a (...) sense of morality. Drawing on groundbreaking research at Yale, Bloom demonstrates that, even before they can speak or walk, babies judge the goodness and badness of others’ actions; feel empathy and compassion; act to soothe those in distress; and have a rudimentary sense of justice. -/- Still, this innate morality is limited, sometimes tragically. We are naturally hostile to strangers, prone to parochialism and bigotry. Bringing together insights from psychology, behavioral economics, evolutionary biology, and philosophy, Bloom explores how we have come to surpass these limitations. Along the way, he examines the morality of chimpanzees, violent psychopaths, religious extremists, and Ivy League professors, and explores our often puzzling moral feelings about sex, politics, religion, and race. In his analysis of the morality of children and adults, Bloom rejects the fashionable view that our moral decisions are driven mainly by gut feelings and unconscious biases. Just as reason has driven our great scientific discoveries, he argues, it is reason and deliberation that makes possible our moral discoveries, such as the wrongness of slavery. Ultimately, it is through our imagination, our compassion, and our uniquely human capacity for rational thought that we can transcend the primitive sense of morality we were born with, becoming more than just babies. -/- Paul Bloom has a gift for bringing abstract ideas to life, moving seamlessly from Darwin, Herodotus, and Adam Smith to The Princess Bride, Hannibal Lecter, and Louis C.K. Vivid, witty, and intellectually probing, Just Babies offers a radical new perspective on our moral lives. (shrink)

The patient was born at 29 weeks gestation. There was a prenatal diagnosis that the child's small intestine had developed outside of the abdominal cavity. The length of gestation had made the initial prognosis good. But after birth, surgery to place the intestine back into the abdominal cavity found that the baby actually had very little small intestine and a diagnosis of was made. The amount of small intestine was not compatible with survival. The transplant service saw the (...) class='Hi'>baby twice and each time said the baby's profile did not meet the transplant protocol. (shrink)

PurposeTo explore and describe a trained communication partner’s use of responsive strategies in dyadic interaction with adults with Rett syndrome.IntroductionResponsive partner strategies facilitate social, communicative, and linguistic development. The common feature is that the communication partner responds contingently to the other’s focus of attention and interprets their acts as communicative. Research on responsive partner strategies that involves individuals with significant communication and motor disabilities remains sparse. The same applies to if, and how, the use of communication aids impacts on (...) the partner’s use of responsive strategies.Materials and methodsA therapist, trained in responsive partner strategies and aided communication interacted during 14 sessions with each of three participants. The participants were adults with Rett syndrome. A gaze-controlled device and responsive strategies were used during all sessions. The Responsive Augmentative and Alternative Communication Style scale was used to assess the partner’s responsiveness. RAACS consists of 11 items including ratings of to what extent the partner is being attentive to, confirms, and expands the individual’s communication. During eight of the 14 sessions, aided AAC Modelling was also used, i.e., the communication partner pointed at symbols on the gaze-controlled device while interacting. In addition to RAACS, each time the communication partner confirmed or expanded on communication when the participants used the gaze-controlled device and the participants did not use the gaze-controlled device was counted. Descriptive statistics were used to present the results. Non-parametric tests were used to compare means between the two conditions and between participants.ResultsInter-rater agreement for the different RAACS items ranged from 0.73 to 0.96 and was thus found to be fair to excellent. The communication partner’s use of responsive strategies varied when communicating with different participants and the scores were higher when aided AAC modeling was used. The communication partner’s number of responses and use of responsive strategies were higher when the participants communicated through a gaze-controlled device.ConclusionThe communication partner’s use of responsive and scaffolding strategies is not a fixed construct but varies in interactions with different non-speaking persons. The same is true whether the non-speaking person uses a gaze-controlled device with digitized speech or not. (shrink)

This paper examines the phenomenon of ‘baby factories’ as an abusive pattern of surrogacy and child adoption practices in Nigeria. Relying on a mixed qualitative approach that draws on extant literature and field-based personal insights, the paper posits that the economic, socio-cultural and psycho-emotional value of bearing and having a child, as well as the tacit disapproval of adoptive parenting by some cultures in Nigeria, have driven childless couples and adults into seeking child adoption through illicit and unconventional paths, (...) such as ‘baby factories’. The paper contends that the commercialization and non-regulation of surrogacy in Nigeria has created pretexts for the proliferation of ‘baby factories’, where babies are bought and sold, with pregnant girls and infants objectified as ‘stocks-in-trade’. To mitigate the phenomenon, it is expedient to regulate the bourgeoning illicit baby market in the country through proper legislation that is capable of moderating the excesses of surrogate and adoptive practices. (shrink)

Few subjects have generated so many newspaper headlines and such heated controversy as the treatment, or non-treatment, of handicapped newborns. In 1982, the case of Baby Doe, a child born with Down's syndrome, stirred up a national debate in the United States, while in Britain a year earlier, Dr. Leonard Arthur stood trial for his decision to allow a baby with Down's syndrome to die. Government intervention and these recent legal battles accentuate the need for a (...) reassessment of the complex issues involved. This volume--by two authorities on medical ethics--presents a philosophical analysis of the subject based on particular case studies. Addressing the doctrine of the absolute sanctity of life, Singer and Kuhse examine some actual cases where decisions have been reached; consider the criteria for making these decisions; investigate the differences between killing and letting die; compare Western attitudes and practices with those of other cultures; and conclude by proposing a decision-making framework that offers a rational alternative to the polemics and confusion generated by this highly controversial topic. (shrink)

On October 26, 1984, Dr. Leonard Bailey and the transplant team of Loma Linda University Medical Center in California operated on a five-pound baby girl born a few weeks earlier with hypoplastic left heart syndrome. In babies born with this defect the left side of the heart is much smaller than the right and is unable to pump sufficient blood to sustain life for more than a few weeks. This rare defect occurs about once in every 12,000 live (...) births; it accounts for about a quarter of all cardiac deaths of newborns. In an operation known as a xenograft, involving cross-species transplantation of an organ, Dr. Bailey removed the defective heart from the baby and replaced it with the heart of a baboon. (shrink)

In a crisis, societal needs take precedence over a patient’s best interests. Triage guidelines, however, differ on whether limited resources should focus on maximizing lives or life-years. Choosing between these two approaches has implications for neonatology. Neonatal units have ventilators, some adaptable for adults. This raises the question of whether, in crisis conditions, guidelines for treating extremely premature babies should be altered to free-up ventilators. Some adults who need ventilators will have a survival rate higher than some extremely premature babies. (...) But surviving babies will likely live longer, maximizing life-years. Empiric evidence demonstrates that these babies can derive significant survival benefits from ventilation when compared to adults. When “triaging” or choosing between patients, justice demands fair guidelines. Premature babies do not deserve special consideration; they deserve equal consideration. Solidarity is crucial but must consider needs specific to patient populations and avoid biases against people with disabilities and extremely premature babies. (shrink)

Eyal et al have recently argued that researchers should consider conducting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) human challenge studies to hasten vaccine development. We have conducted (J. L.) and overseen (L. D.) human challenge studies and agree that they can be useful in developing anti-infective agents. We also agree that adults can autonomously choose to undergo risks with no prospect of direct benefit to themselves. However, we disagree that SARS-CoV-2 challenge studies are ethically appropriate at this time, (...) for 3 reasons: (1) current scientific knowledge of SARS-CoV-2 infection is insufficient to manage risks; (2) autonomous decision making, while necessary, does not override concerns about risk; and (3) undertaking challenge studies now would imperil confidence in the research enterprise, potentially undermining the global response to the coronavirus disease 2019 (COVID-19) pandemic. (shrink)

Two incompatible policies exist for guiding medical decisions for extremely premature, sick, or terminally ill infants, the Best Interests Standard and the newer, 20-year old "Baby Doe" Rules. The background, including why there were two sets of Baby Doe Rules, and their differences with the Best Interests Standard, are illustrated. Two defenses of the Baby Doe Rules are considered and rejected. The first, held by Reagan, Koop, and others, is a "right-to-life" defense. The second, held by some (...) leaders of the American Academy of Pediatrics, is that the Baby Doe Rules are benign and misunderstood. The Baby Doe Rules should be rejected since they can thwart compassionate and individualized decision-making, undercut duties to minimize unnecessary suffering, and single out one group for treatment adults would not want for themselves. In these ways, they are inferior to the older Best Interests Standard. A "negative" analysis of the Best Interests Standard is articulated and defended for decision-making for all incompetent individuals. (shrink)

Objective:To characterize the prevalence of hyperpalatable foods (HPF) among baby foods in the U.S. and examine the prevalence of HPF exposure and consumption from both baby food and adult food sources among infants aged 9–15 months.Methods:A U.S. baby food database as well as baby foods from three 24-h dietary recalls of 147 infants were used to identify baby foods as HPF per previous publication. HPF exposure was defined as intake of any HPF during the (...) 3-day measurement period. To determine the extent of HFP consumption, % kilocalorie (kcal) intake from HPF was characterized.Results:Only 12% of baby foods were HPF; however, nearly all participants (>90%) consumed HPF, primarily through exposure to adult foods. Younger infants (<12 months) consumed 38% [standard deviation (SD) = 23.6%] of their daily food kcal from HPF and older infants (≥12 months) consumed 52% (SD = 16.4%) of daily food kilocalorie from HPF. Most younger infants (68%) and older infants (88%) had repeated exposure to the same HPF across the measurement period.Conclusions:The prevalence of HPF among baby foods in the U.S. is low. However, almost all infants were exposed to HPF, and HPF comprised a substantial percentage of daily food kilocalorie in infants' diets. Findings highlight the transition to solid food consumption during complimentary feeding period is a critical time for early HPF exposure. (shrink)

INTRODUCTION: Delusional misidentification syndromes (DMS) are a group of psychopathological experiences occurring in psychosis, involving the misidentification of a person or place. DMS are often accompanied by hostility towards the object of delusional misidentification. This is of a particular concern in perinatal mental illness due to the potential disruption of the mother-infant bond, and risk of neglect, violence, or infanticide towards a misidentified child. This review aimed to collate all published cases of DMS in postpartum psychosis to further understand how (...) these syndromes present in perinatal mental illness. METHODS: In August 2021, an online database search was conducted using PubMed, MEDLINE, PsycINFO, CINAHL, and Embase to identify all publications reporting DMS in the perinatal period. RESULTS: Nine papers were included in the review involving 8 case reports of Capgras syndrome and one case series involving 4 cases of Fregoli syndrome. Three cases identified organic pathology, which may have contributed to the presentation. The most common subject of misidentification was the patient’s husband (n = 7), followed by their baby (n = 6), hospital staff (n = 4), other family members (n = 3), and self (n = 1). Five cases remark on the impact of perinatal illness on the maternal-infant bond, of which four result in the mother being unwilling to care for the infant as the result of their delusional beliefs. CONCLUSION: This is the first systematic review of the literature in this field. Although small in number, these cases reveal several important learning points including that DMS can occur with or without underlying organic disease. Active exploration of the nature of delusions in postpartum psychosis is required to mitigate the risk of harm to the infant and mother-infant bond. It may also uncover that these syndromes are more common in postpartum psychosis than previously realized. (shrink)

The ability of a group of adults with high functioning autism (HFA) or Asperger Syndrome (AS) to distinguish moral, conventional and disgust transgressions was investigated using a set of six transgression scenarios, each of which was followed by questions about permissibility, seriousness, authority contingency and justification. The results showed that although individuals with HFA or AS (HFA/AS) were able to distinguish affect-backed norms from conventional affect-neutral norms along the dimensions of permissibility, seriousness and authority-dependence, they failed to distinguish moral (...) and disgust transgressions along the seriousness dimension and were unable to provide appropriate welfare-based moral justifications. Moreover, they judged conventional and disgust transgressions to be more serious than did the comparison group, and the correlation analysis revealed that the seriousness rating was related to their ToM impairment. We concluded that difficulties providing appropriate moral justifications and evaluating the seriousness of transgressions in individuals with HFA/AS may be explained by an impaired cognitive appraisal system that, while responsive to rule violations, fails to use relevant information about the agent’s intentions and the affective impact of the action outcome in conscious moral reasoning. (shrink)

State-of-the-art facial expression methods outperform human beings, especially, thanks to the success of convolutional neural networks. However, most of the existing works focus mainly on analyzing an adult’s face and ignore the important problems: how can we recognize facial expression from a baby’s face image and how difficult is it? In this paper, we first introduce a new face image database, named BabyExp, which contains 12,000 images from babies younger than two years old, and each image is with (...) one of three facial expressions. To the best of our knowledge, the proposed dataset is the first baby face dataset for analyzing a baby’s face image, which is complementary to the existing adult face datasets and can shed some light on exploring baby face analysis. We also propose a feature guided CNN method with a new loss function, called distance loss, to optimize interclass distance. In order to facilitate further research, we provide the benchmark of expression recognition on the BabyExp dataset. Experimental results show that the proposed network achieves the recognition accuracy of 87.90% on BabyExp. (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)

Williams Syndrome provides a striking test case for discourses on disability, because the characteristics associated with Williams Syndrome involve a combination of “abilities” and “disabilities”. For example, Williams Syndrome is associated with disabilities in mathematics and spatial cognition. However, Williams Syndrome individuals also tend to have a unique strength in their expressive language skills, and are socially outgoing and unselfconscious when meeting new people. Children with Williams are said to be typically unafraid of strangers and show (...) a greater interest in contact with adults than with their peers. This apparently keen social knowledge is a counterexample to the discussion of disability among academic philosophers, especially philosophers of the early modern period. Locke infamously used the example of disability to claim that Descartes’ arguments in favor of innate ideas were incorrect. On the contrary, Williams Syndrome may stand as an example of innate social knowledge; something that could benefit current discourse in philosophy, disability theory, and medical ethics. (shrink)

Despite major advances in research on musical ability in infants, relatively little attention has been paid to individual differences in general musicality in infants. A fundamental problem has been the lack of a clear definition of what constitutes “general musicality” or “musical ability” in infants and toddlers, resulting in a wide range of test procedures that rely on different models of musicality. However, musicality can be seen as a social construct that can take on different meanings across cultures, sub-groups, and (...) individuals, and may be subject to change over time. Therefore, one way to get a clearer picture of infant musicality is to assess conceptions of musicality in the general population. Using this approach, we surveyed 174 German adults, asking about their view and conceptions regarding behaviors that characterize a musical child under 3 years. Based on previous studies on adult and child musicality, we designed a survey containing 41 statements describing musical behaviors in children. Participants were asked to rate how indicative these behaviors were of musicality in infants and toddlers. PCA analysis revealed 4 components of musical abilities and behaviors in under-3-year-olds: Musical Communication, Enthusiasm and Motivation, Adaptive Expressiveness, and Musical Abilities as traditionally defined. Professional background and musical expertise of the respondents did not significantly influence participants’ conceptions. Our results suggest that, in order to capture musicality in young children, a wider range of skills and observable behaviors should be taken into account than those assessed by traditional musical ability tests for young children. (shrink)

This study analyzes the most important predictors of acceptance of social network sites in a sample of Chilean elder people. We employ a novelty procedure to explore this phenomenon. This procedure performs apriori segmentation based on gender and generation. It then applies the deep learning technique to identify the predictors by segments. The predictor variables were taken from the literature on the use of social network sites, and an empirical study was carried out by quota sampling with a sample size (...) of 395 older people. The results show different predictors of social network sites considering all the samples, baby boomer males and females, silent males and females. The high heterogeneity among older people is confirmed; this means that dealing with older adults as a uniform set of users of social network sites is a mistake. This study demonstrates that the four segments behave differently, and many diverse variables influence the acceptance of social network sites. (shrink)

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)

Despite increased general awareness of suicide in U.S. adult correctional facilities as well as the availability of research and correctional standards that advocate increased attention and services to potentially suicidal inmates, prevention efforts within correctional facilities remain piecemeal and inmate suicide continues to be a serious public health problem. A robotic state of mind excuse, that inmate suicide is not preventable, impedes prevention efforts. In the following discussion, the key ingredients to comprehensive suicide prevention programming are offered to dispel (...) these obstacles.Suicide is a leading cause of death in jails across the United States, with well over 400 inmates taking their lives each year. In some urban jail facilities, deaths related to acquired immune deficiency syndrome slightly outnumber deaths by suicide. The rate of suicide in county jails is estimated to be approximately nine times greater than that of the general population. Overall, most jail suicide victims are young white males who have been arrested for nonviolent offenses and were intoxicated when arrested. (shrink)

Despite increased general awareness of suicide in U.S. adult correctional facilities as well as the availability of research and correctional standards that advocate increased attention and services to potentially suicidal inmates, prevention efforts within correctional facilities remain piecemeal and inmate suicide continues to be a serious public health problem. A robotic state of mind excuse, that inmate suicide is not preventable, impedes prevention efforts. In the following discussion, the key ingredients to comprehensive suicide prevention programming are offered to dispel (...) these obstacles.Suicide is a leading cause of death in jails across the United States, with well over 400 inmates taking their lives each year. In some urban jail facilities, deaths related to acquired immune deficiency syndrome slightly outnumber deaths by suicide. The rate of suicide in county jails is estimated to be approximately nine times greater than that of the general population. Overall, most jail suicide victims are young white males who have been arrested for nonviolent offenses and were intoxicated when arrested. (shrink)

Haunted People Syndrome denotes individuals who recurrently report various “supernatural” encounters in everyday settings ostensibly due to heightened somatic-sensory sensitivities to dis-ease states, which are contextualized by paranormal beliefs and reinforced by perceptual contagion effects. This view helps to explain why these anomalous experiences often appear to be idioms of stress or trauma. We tested the validity and practical utility of the HP-S concept in an empirical study of an active and reportedly intense ghostly episode that was a clinical (...) referral. The case centered on the life story of the primary percipient, a retired female healthcare worker. Secondary percipients included her husband and adult daughter, all of whom reported an array of benign and threatening anomalies across five successive residences. Guided by prior research, we administered the family online measures of transliminality, sensory-processing sensitivity, paranormal belief, locus of control, desirability for control, and a standardized checklist of haunt-type phenomena. The primary percipient also completed a measure of adverse childhood events and supplied an event diary of her anomalous experiences. We found reasonably consistent support for HP-S from a set of quantitative observations that compared five proposed syndrome features against the family members’ psychometric profiles and the structure and contents of their anomalous experiences. Specifically, the reported anomalies both correlated with the family’s scores on transliminality and paranormal belief, as well as elicited attributions and reaction patterns aligned with threat detection. There was also some evidence of perceptual congruency among the family members’ anomalous experiences. Putative psi cannot be ruled out, but we conclude that the family’s ordeal fundamentally involved the symptoms and manifestations of thin mental boundary functioning in the face of unfavorable circumstances or overstimulating environments and subsequently acerbated by poor emotion regulation, histrionic and catastrophizing reactions, and active confirmation biases. (shrink)

The ability to sequence individual genomes is leading to the identification of an increasing number of genetic risk factors for serious diseases. Knowledge of these risk factors can often provide significant medical and psychological benefit, but also raises complex ethical and social issues. This paper focuses on one area of rapid progress: the identification of mutations causing long QT syndrome and other cardiac channel disorders, which can explain some previously unexplained deaths in infants (SIDS) and children and adults (SUDS) (...) and prevent others from occurring. This genetic knowledge, discovered posthumously in many cases, has implications for clinical care for surviving family members who might carry the same mutations. The information obtained from genetic testing, in the context of personal and family history, can guide individually tailored interventions that reduce risk and save lives. At the same time, obtaining and disclosing genetic information raises difficult issues about confidentiality and decision making within families. We draw on the experience of the Montefiore-Einstein Center for Cardiogenetics, which has played a leading role in the genetic diagnosis and clinical management of cardiac channel diseases, to explore some of the challenging ethical questions arising in affected families with adolescent children. We focus on the related issues of (1) family confidentiality, privacy and disclosure and (2) adolescent decision making about genetic risk, and argue for the value of interdisciplinary dialogue with affected families in resolving these issues. (shrink)

AimIn case of extremely rare diseases, case reports are often the only experience to draw from for evidence-based management. Carmi syndrome is a rare, mostly lethal combination of junctional epidermolysis bullosa and pyloric atresia. During an ethical board, there were differences in perception of mortality rate. We tested the hypothesis that the cumulative mortality of single case reports is lower than that of multiple case series.CaseA baby girl was born at 33 weeks gestation with Carmi syndrome. The (...) treatment options discussed in an interdisciplinary ethics board were a palliative approach versus surgical gastrojejunostomy. Because about one third of operated children described in case reports survived, we opted for surgical treatment. The patient died a painful death 4 weeks later.MethodsThe PubMed database was systematically searched for reports of Carmi syndrome. Single case reports were compared to case series in terms of outcome.ResultsA total of 102 cases of Carmi syndrome were identified in the literature. Mortality of single case reports was 17 out of 27 patients (63%), while that of case series was higher at 62 out of 74 patients (84%,p = 0.036).ConclusionsSelection and publication bias may lead to inflation of survival rates in single case reports because successful cases are more likely to be published in the literature. These biases may lead to inappropriately aggressive treatment in futile cases. Clinicians should be cautious when discussing prognosis and making decisions based on the cumulative experience of case reports of extremely rare or novel diseases. (shrink)

Previous studies of Zika virus (ZIKV) pathogenesis have focused primarily on virus‐driven pathology and neurotoxicity, as well as host‐related changes in cell proliferation, autophagy, immunity, and uterine function. It is now hypothesized that ZIKV pathogenesis arises instead as an (unintended) consequence of host innate immunity, specifically, as the side effect of an otherwise well‐functioning machine. The hypothesis presented here suggests a new way of thinking about the role of host immune mechanisms in disease pathogenesis, focusing on dysregulation of post‐transcriptional RNA (...) editing as a candidate driver of a broad range of observed neurodevelopmental defects and neurodegenerative clinical symptoms in both infants and adults linked with ZIKV infections. The authors collect and synthesize existing evidence of ZIKV‐mediated changes in the expression of adenosine deaminases acting on RNA (ADARs), known links between abnormal RNA editing and pathogenesis, as well as ideas for future research directions, including potential treatment strategies. (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)

I note with interest the Controversy regarding a baby born free of an inherited predisposition to early onset Alzheimer’s disease through the use of preimplantation genetic diagnosis .1,2 As the medical geneticist for the PGD programme for single gene disorders in Melbourne, Australia, I have seen many couples who have considered PGD for a wide range of genetic conditions. My observation is that many couples look to PGD for “milder” conditions and adult onset conditions for which they are (...) not comfortable to have traditional prenatal diagnosis and termination of pregnancy.An example of this is that in the last 11 years our unit has undertaken 13 prenatal diagnoses for Huntington’s disease from nine couples, whereas in the two years that we have been offering it we have had six requests for PGD for Huntington’s disease and three couples …. (shrink)

The public debate on voluntary termination of life by elderly people, which has been an intensely controversial subject in the Netherlands for some time, has centered around the issue of “completed life” in recent years. In 2016, an ad hoc governmental advisory committee concluded that the already existing Euthanasia Act provided sufficient scope to resolve most of the problems related to the issue. Most of the older adults who feel they no longer have anything to look forward to in their (...) lives and who have developed a wish to die as a result would be able to invoke this Act. Partly for this reason, the committee considered broadening the legal options relating to assisted suicide undesirable. Analysis of the assessment practice of the regional euthanasia review committees reveals that the room for interpretation offered by the Euthanasia Act is indeed considerable. (shrink)

Psychological stress reactions to the COVID-19 pandemic are complex and multifaceted. Research provides evidence of a COVID Stress Syndrome, consisting of worry about the dangerousness of getting infected with SARSCoV2 and coming into contact with infected surfaces, worry concerning the personal socioeconomic consequences of COVID-19, xenophobic fears that SARSCOV2 is being spread by foreigners, COVID-19-related traumatic stress symptoms, and compulsive checking and reassurance-seeking about COVID-19. Little is known about how these symptoms are related to vulnerability and protective personality factors. (...) Based on data from 1,976 US and Canadian adults, we conducted a prospective network analysis in which personality factors were initially assessed at Time 1 and then symptoms of the CSS were assessed at Time 2, 2.5 months later. Results indicated that trait optimism and trait resilience were negatively associated with negative emotionality, suggesting a modulatory influence. Negative emotionality was positively linked to the narrower traits of intolerance of uncertainty and health anxiety proneness. These narrower traits, in turn, were prospectively linked to symptoms of the CSS. Results suggest that the effects of broad personality traits on symptoms of the CSS were mediated by narrower traits such as the intolerance of uncertainty. Treatment implications are discussed. (shrink)

Epidemics of organophosphate‐induced delayed neuropathy (OPIDN) have paralysed thousands of people. This syndrome of nerve axon degeneration is initiated by organophosphates which react with neuropathy target esterase (NTE). Dosing experiments with adult chickens raise the possibility that OPIDN is initiated by a gain‐of‐function mechanism. By contrast, loss of NTE function by mutation causes massive apoptosis in Drosophila brain. Now, Winrow et al. show that nte−/− mice die by mid‐gestation, but nte+/− mice appear hyperactive and are more sensitive than (...) wild‐type mice to a fatal form of OP toxicity.1 Thus, different toxic syndromes may be initiated via a single target protein. BioEssays 25:742–745, 2003. © 2003 Wiley Periodicals, Inc. (shrink)

This paper articulates a careful and detailed objection to the moral permissibility of postnatal abortion. Giubilini and Minerva claim that if being unable to nurture one’s newborn child without significant burdens to oneself, family or society, is a proper moral ground for the demand that the life of a fetus be terminated, then ‘after-birth abortion should be considered a permissible option for women who would be damaged by [rearing the child or] giving up their newborns for adoption.’ It will be (...) shown that the permissibility of postnatal abortion does not follow from the argument’s premises, in particular, the premise that the newborn is not a person in the morally relevant sense. (shrink)

Work with people with Williams syndrome is reviewed relative to Atran's claim that the universality of taxonomic rank in the animal and plant domains derives from a biological construal of generic species. From this work it is argued that a biological construal of animals is not necessary for the construction of the adult taxonomy of animals and therefore that the existence of an animal (or plant) taxonomy cannot be taken as evidence of a biological domain.