Following extensive examination of published and unpublished materials, we provide a history of the use of dexamethasone in pregnant women at risk of carrying a female fetus affected by congenital adrenal hyperplasia (CAH). This intervention has been aimed at preventing development of ambiguous genitalia, the urogenital sinus, tomboyism, and lesbianism. We map out ethical problems in this history, including: misleading promotion to physicians and CAH-affected families; de facto experimentation without the necessary protections of approved research; troubling parallels to the (...) history of prenatal use of diethylstilbestrol (DES); and the use of medicine and public monies to attempt prevention of benign behavioral sex variations. Critical attention is directed at recent investigations by the U.S. Food and Drug Administration (FDA) and Office of Human Research Protections (OHRP); we argue that the weak and unsupported conclusions of these investigations indicate major gaps in the systems meant to protect subjects of high-risk medical research. (shrink)

This article is the first indepth ethical analysis of empirical studies that support the claim that children born without major parts of their cerebral cortex are capable of conscious experiences and have a rudimentary capacity for agency. Congenitally decorticate children have commonly been classified as persistently vegetative, with serious consequences for their well-being and opportunities to flourish. The paper begins with an explication of the rights-based normative framework of the argument, including conceptual analysis of the terms ‘agency’, ‘potentiality for agency’ (...) and ‘gradual approach of agency’. It critically examines Alan Gewirth’s account of the criteria for being a rights bearer and principles for settling rights conflicts between agents and potential agents. It then applies the rights-based normative framework to the ethical challenges associated with care for congenitally decorticate children. It argues that recent empirical studies support the claim that the concepts ‘potential for agency’ and ‘capacity for rudimentary agency’ apply to children who are born without major parts of their cerebral cortex. The article finally discusses important medical ethical implications of these results. It specifically focuses on congenitally decorticate children’s preparatory rights to a stimulating intellectual and social environment. (shrink)

Chagas disease or American trypanosomiasis is an important health problem in Latin America. Due to the mobility of Latin American population around the world, countries without vector presence started to report disease cases. We developed a deterministic compartmental model in order to gain insights into the disease dynamics in a scenario without vector presence, considering congenital transmission and transmission by blood transfusion. The model was used to evaluate the epidemiological effect of control measures. It was applied to demographic data (...) from Spain and sensitivity analysis was performed on model parameters associated with control strategies. (shrink)

I take the phrase ‘congenital transcendentalism’ from Santayana who defined it as ‘the spontaneous feeling that life is a dream’. ‘The loneliness which is the truth about things’ is a phrase of Virginia Woolf's. The thesis I will advance is that many expressions of doubt or denial of the shareable world are self-misunderstood manifestations of the state indicated by Woolf's expression. But the loneliness of which Woolf speaks must not be construed as the kind of loneliness which can be (...) assuaged by family, friends, lovers or company. Nor is it the loneliness which a convinced solipsist might experience. It is rather the loneliness of ‘that “I” and that “life of mine'” which is ‘untouched whichever way the issue is decided whether the world is or is not’. (shrink)

Phenomenology has contributed to healthcare by providing resources for understanding the lived experience of the patient and their situation. But within a burgeoning literature on the characteristic features of illness, there has not yet been an account appropriate to describe congenital illnesses: conditions which are present from birth and cause suffering or medical threat to their bearers. Congenital illness sits uncomfortably with standard accounts in phenomenology of illness, in which concepts such as loss, doubt, alienation and unhomelikeness presuppose (...) prior health. These accounts reflect, in different ways, Maurice Merleau-Ponty’s assumption that the ways of living of the ill contain allusions to fundamental, healthy functions. The originality of congenital illness complicates this assumption and demands its own original phenomenology. In this paper, I sketch my personal experience living with a single-ventricle heart condition. While some of this story may reflect my own idiosyncratic experience, I hope that much of it will resonate with the congenital illness experience. I argue that the phenomenological literature on illness, grounded in the notion of loss, does not describe the congenital illness experience. I show how a number of other patient-centred theories of health and illness which have been influential on phenomenology can and cannot elucidate congenital illness. In particular, I consider Georges Canguilhem’s account of the normal and the pathological; debates in disability; and the notion of illness as biographical disruption. I show that congenital illness results in the preadmission of its patients to a paradoxical logic of medical palliation, one product of which is existential maturity. (shrink)

To test if dreams contain remote or never-experienced motor skills, we collected during 6 weeks dream reports from 15 paraplegics and 15 healthy subjects. In 9/10 subjects with spinal cord injury and in 5/5 with congenital paraplegia, voluntary leg movements were reported during dream, including feelings of walking , running , dancing , standing up , bicycling , and practicing sports . Paraplegia patients experienced walking dreams just as often as controls . There was no correlation between the frequency (...) of walking dreams and the duration of paraplegia. In contrast, patients were rarely paraplegic in dreams. Subjects who had never walked or stopped walking 4–64 years prior to this study still experience walking in their dreams, suggesting that a cerebral walking program, either genetic or more probably developed via mirror neurons is reactivated during sleep. (shrink)

Reports of phantom limbs amongst aplasics have often been presented as evidence that body image is ‘hard-wired’ in the brain and that neither sensory input nor proprioceptive feedback are essential to its formation. Although attempts have been made to account for these phantoms by other means, these have been on a case by case basis and no satisfactory alternative framework has been proposed. This paper collates the accounts of aplasic phantoms and presents them as compatible with a four-part hypothesis, in (...) which body image is learnt from experience during both pre- and post-natal development, and in which cross-cortical connections and mirror neurons play prominent roles. This model unites several previously disparate theories to offer a viable solution to several longstanding phantom limb mysteries and serves to highlight avenues worthy of further inquiry. (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)

This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe (...) abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms. (shrink)

ObjectivesThis study aimed to describe the experiences and challenges faced by adolescents with moderate and severe congenital heart defects or Chronic Rheumatic Heart Disease and to determine their needs in order to develop an Adolescent Transition Psychoeducational Program.MethodsThe study involved seven adolescents with moderate to severe CHD/CRHD, six parents, and four health care providers in Institute Jantung Negara. Participants were invited for a semi-structured interview. Qualitative data were analyzed through the Atlas.ti 7 program using triangulation methods.Results/conclusionsWe identified five themes (...) concerning the experience and challenges of adolescents relating to: emotional/psychological issues; the progress of the illness; relationship issues; future preparation; and, school and community. These themes were identified together with eleven subcategories. The staff expressed support for the development of the Adolescent Transition Psychoeducational Program and adolescents with CHD/CRHD and their parents were willing to participate in the program if their schedule allowed. Their suggestions to improve the program were classified into six categories, with two main themes, the self-management of illness in life and the future; and, social support. In conclusion, the findings from the situation analysis act as a basis for a conceptual framework that will contribute to the development of an Adolescent Transition Psychoeducational Program that aims to empower adolescents with CHD/CRHD, enabling them to manage challenges during the transition phase between childhood and adulthood. (shrink)

Critical congenital heart disease screening is rapidly becoming the standard of care in the United States after being added to the Recommended Uniform Screening Panel in 2011. Newborn screens typically do not require affirmative parental consent. In fact, most states allow parents to exempt their baby from receiving the required screen on the basis of religious or personally held beliefs. There are many ethical considerations implicated with allowing parents to exempt their child from newborn screening for CCHD. Considerations include (...) the treatment of religious exemptions in our current legal system, as well as medical and ethical principles in relation to the rights of infants. Although there are significant benefits to screening newborns for CCHD, when a parent refuses for religious or personal beliefs, in the case of CCHD screening, the parental decision should stand. (shrink)

Models of dream analysis either assume a continuum of waking and dreaming or the existence of two dissociated realities. Both approaches rely on different methodology. Whereas continuity models are based on content analysis, discontinuity models use a structural approach. In our study, we applied both methods to test specific hypotheses about continuity or discontinuity. We contrasted dream reports of congenitally deaf-mute and congenitally paraplegic individuals with those of non-handicapped controls. Continuity theory would predict that either the deficit itself or compensatory (...) experiences would surface in the dream narrative. We found that dream form and content of sensorially limited persons was indifferent from those of non-handicapped controls. Surprisingly, perceptual representations, even of modalities not experienced during waking, were quite common in the dream reports of our handicapped subjects. Results are discussed with respect to feedforward mechanisms and protoconsciousness theory of dreaming. (shrink)

The present study examined deep gray matter perfusion in neonates with congenital heart disease (CHD) with arterial spin labeling magnetic resonance imaging preoperatively. We found that neonates with cyanotic CHD showed lower right thalamus compared with controls and lower right basal ganglia perfusion compared with acyanotic CHD. When the CHD group was assessed as a whole, it showed slightly decreased left thalamus perfusion compared with controls. The results suggest that cardiac physiology plays a crucial part in changes in regional (...) cerebral perfusion. Perfusion with arterial spin labeling may be a useful marker of high risk for impaired cerebral blood flow auto-regulation and cerebral hypoperfusion in neonates with CHD. (shrink)

Congenital amusia in its most common form is a disorder characterized by a musical pitch processing deficit. Although pitch is involved in conveying emotion in music, the implications for pitch deficits on musical emotion judgements is still under debate. Relatedly, both limited and spared musical emotion recognition was reported in amusia in conditions where emotion cues were not determined by musical mode or dissonance. Additionally, assumed links between musical abilities and visuo-spatial attention processes need further investigation in congenital (...) amusics. Hence, we here test to what extent musical emotions can influence attentional performance. Fifteen congenital amusic adults and fifteen healthy controls matched for age and education were assessed in three attentional conditions: executive control, alerting, and orienting while music expressing either joy, tenderness, sadness, or tension was presented. Visual target detection was in the normal range for both accuracy and response times in the amusic relative to the control participants. Moreover, in both groups, music exposure produced facilitating effects on selective attention that appeared to be driven by the arousal dimension of musical emotional content, with faster correct target detection during joyful compared to sad music. These findings corroborate the idea that pitch processing deficits related to congenital amusia do not impede other cognitive domains, particularly visual attention. Furthermore, our study uncovers an intact influence of music and its emotional content on the attentional abilities of amusic individuals. The results highlight the domain-selectivity of the pitch disorder in congenital amusia, which largely spares the development of visual attention and affective systems. (shrink)

Why must critical congenital heart disease (CCHD) screening be legislated? This was my first reaction to Hom and colleagues' (2016) analysis. As the authors explain, pulse oximetry is painless and...

This target article considers the ethical implications of providing prenatal diagnosis and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion (...) for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms. (shrink)

Introduction: Congenital myasthenic syndromes refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild symptoms to life-limiting forms with neonatal onset. Long-term follow-up studies on disease progression and treatment-response in pediatric patients are rare.Patients and Methods: We analyzed retrospective clinical and medication data in a cohort of 32 CMS-patients including the application of a standardized, not yet validated test to examine muscular strength and endurance in 21 patients at (...) the last follow-up. Findings obtained in our cohort were compared with long-term follow-up studies of CMS-cohorts from the literature by considering the underlying molecular mechanisms. Outcomes of CMS-ST were compared to results of normal clinical assessment.Results: Thirty-two pediatric patients with defects in eight different CMS-genes were followed by a median time of 12.8 years. Fifty-nine percentage of patients manifested with first symptoms as neonates, 35% as infants. While 53% of patients presented a reduced walking distance, 34% were wheelchair-bound. Even under adequate therapy with pyridostigmine and 3,4-diaminopyridine, CHAT-mutations led to the progression of muscular weakness partly in combination with persistent respiratory and bulbar symptoms. RAPSN, CHRND, and CHRNB1 patients with neonatal manifestation, early respiratory problems, and bulbar symptoms showed a good and maintained treatment response. CHAT and CHRNE patients required higher PS dosages, whereas RAPSN patients needed a lower mean dosage at the last follow-up. The benefits of short-term medication and long-term progression of symptoms were highly dependent on the specific genetic defect. CMS-ST was carried out in 17/21 patients, determined affected muscle groups including bulbar and ocular symptoms, some of which were not reported by the patients.Conclusions: Our findings and comparison with the literature- suggest a better treatment-response and less severe progression of symptoms present in patients suffering from mutations in CMS-genes directly associated with receptor deficiency, while patients with defects leading to synaptopathy and presynaptic defects tend to have worse outcomes. Assessment of affected muscular groups and clinical symptoms by CMS-ST may be a useful tool for optimal therapeutic management of the patients, especially for future clinical studies. (shrink)

The authors are members of the British Association Committee on Social Concern and Biological Advances. Following earlier discussions of legal and social problems arising from certain medical advances, they undertook, independently, to examine the Law Commission's study.

Congenitally infertile woman such as those with Turner syndrome or Mayer Rokitansky-Kuster-Hauser syndrome have available the technologies of oocyte harvestation, cryropreservation, in-vitro fertilization, and gestational surrogacy in order to have genetically related offspring. Since congenital infertility results in a variety of experiences that impacts on nearly every aspect of a person’s life, in the future it is possible that these women might desire a congenitally infertile child through the use of preimplantation genetic diagnosis so as to share this common (...) bond. While infertility results in a relatively normal quality of life, it is morally wrong to necessitate the future use of infertility services with its variable success rate on a child. Also, whereas the woman has fundamental reproductive autonomy, she lacks the substantive autonomy regarding the specific characteristics of her child. Finally, the infertile community does exhibit a strong presence, but it lacks characteristics that define it as a culture. (shrink)

This article presents the case of a mother who is planning a home birth with a midwife with the shared knowledge that the fetus would have congenital anomalies of unknown severity. We discuss the right of women to choose home birth, the caregivers’ duty to the infant, and the careproviders’ dilemma about how to respond to this request. The ethical duties of concerned careproviders are explored and reframed as professional obligations to the mother, infant, and their profession at large. (...) Recommendations are offered based on this case in order to clarify the considerations surrounding not only home birth of a fetus with anticipated anomalies, but also to address the ethical obligations of caregivers who must navigate the unique tension between respecting the mother’s wishes and the duty of the careproviders to deliver optimal care. (shrink)

El aborto voluntario del embarazo es un tema de salud global y constituye uno de los más complejos de la bioética, pues tiene connotaciones psicológicas, éticas y jurídicas no solo para la persona que lo practica, sino también para la sociedad donde se desarrolla y para el lugar que en esta ocupa la mujer. Para profundizar en la temática se realizó una revisión bibliográfica para exponer algunos de los dilemas éticos en cuanto a la interrupción del embarazo por malformaciones congénitas. (...) En Cuba en el 2013, se aprobaron las normas para la terminación voluntaria del embarazo, por razones médicas o de salud o por el diagnóstico prenatal de malformaciones congénitas incompatibles con la vida. La conducta ética del asesor genético debe basarse en los principios éticos y bioéticos que se reflejan en los principios de la ética médica, que aplicados al quehacer profesional aseguran y amparan su práctica legal. Abortion is a world health issue and one of bioethics most complex subjects, since it has psychological, ethical and legal connotations not only for the person who experiences it but also for the society where it is carried out and for the role women play in this society. In order to set forth some of the ethical dilemmas regarding abortion due to congenital abnormalities, a bibliographic review meant to deepen on the subject was conducted. Laws for abortion due to medical, health or life incompatible congenital abnormalities prenatal diagnosis were passed in Cuba in 2013. A genetic counselor's ethical behavior must be based on the ethical and bioethical principles reflected on medical ethics principles which, applied to professional work, ensure and protect its legal practice. (shrink)

Human chromosome 11p15 comprises two imprinted domains important in the control of fetal and postnatal growth. Novel studies1-3 establish that imprinting at one of these, the IGF2-H19 domain, is epigenetically deregulated (with loss of DNA methylation) in Silver-Russell Syndrome (SRS), a congenital disease of growth retardation and asymmetry. Previously, the exact opposite epigenetic alteration (gain of DNA methylation) had been detected at the domain's ‘imprinting control region’ (ICR) in patients with Beckwith-Wiedemann Syndrome (BWS), a complex disorder of fetal overgrowth. (...) However, more frequently, BWS is caused by loss of DNA methylation at the ICR that regulates the second imprinted domain at 11p15. Interestingly, a similar epigenetic alteration (with loss of methylation) at a putative ICR on human chromosome 6q24, is involved in transient neonatal diabetes mellitus (TNDM), a congenital disease with intrauterine growth retardation and a transient lack of insulin. Thus, fetal and postnatal growth is epigenetically controlled by different ICRs, at 11p15 and other chromosomal regions. BioEssays 28: 453–459, 2006. © 2006 Wiley Periodicals, Inc. (shrink)

The human experience is shaped by information from different perceptual channels, but it is still debated whether and how differential experience influences language use. To address this, we compared congenitally blind, blindfolded, and sighted people's descriptions of the same motion events experienced auditorily by all participants (i.e., via sound alone) and conveyed in speech and gesture. Comparison of blind and sighted participants to blindfolded participants helped us disentangle the effects of a lifetime experience of being blind versus the task-specific effects (...) of experiencing a motion event by sound alone. Compared to sighted people, blind people's speech focused more on path and less on manner of motion, and encoded paths in a more segmented fashion using more landmarks and path verbs. Gestures followed the speech, such that blind people pointed to landmarks more and depicted manner less than sighted people. This suggests that visual experience affects how people express spatial events in the multimodal language and that blindness may enhance sensitivity to paths of motion due to changes in event construal. These findings have implications for the claims that language processes are deeply rooted in our sensory experiences. (shrink)