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Malignancy risk in Turner syndrome+Y, early gonadectomy, and the ethics of parental choices
This case relates to an infant with Turner syndrome harboring the Y chromosome (TS+Y) and explores the boundaries of parental decision-making. Traditionally, gonads have been surgically removed in early childhood in this condition because of the risk of gonadoblastoma and potential malignant transformation. However, in the case discussed here, the infant's parents do not wish for surgery. In other differences of sex development resulting in intersex traits (increasingly termed congenital variations of sex characteristics [VSC]), some institutions report a shift in the last decade away from early surgical management, in favor of allowing children to be involved in decision-making when they are old enough to participate meaningfully. But should that approach change when there is a risk of malignancy? Two commentaries are presented. One outlines ethical considerations around early surgery in the case of VSC, highlighting implications for the child's bodily integrity and future sexual and reproductive autonomy. A second commentary analyzes the case in terms of pediatric ethics, medical uncertainty, and the zone of parental discretion. Both commentaries conclude that given a lack of adequate data to demonstrate net harms in delaying intervention, and some prospective benefit, it could be reasonable to defer surgery in accordance with the parental request.
Is noxious stimulus-evoked electroencephalography response a reliable, valid, and interpretable outcome measure to assess analgesic efficacy in neonates? A systematic review and individual participant data (IPD) meta-analysis protocol.
BACKGROUND: There are several major challenges limiting our ability to test analgesic efficacy for treatment of neonatal pain, and progress in analgesic drug studies in neonates has stalled. One significant issue is the reliance of clinical pain assessments on traditional behavioural and vital signs-based measures and the exclusion of novel brain-based biomarkers. In this review protocol, we outline our strategy to assess the reliability, validity, and interpretability of an electroencephalography (EEG)-based response biomarker for assessment of acute somatic nociceptive pain in neonates. METHODS: To standardise EEG analysis and generate the outcome of interest, we will perform an individual participant data (IPD) meta-analysis using data from neonates aged 34-44-week postmenstrual age that have had EEG recorded during acute somatic nociceptive skin-breaking procedures. Relevant data from both published and grey literature will be identified by searching six databases (MEDLINE, Embase, CINAHL, Web of Science, Scopus, Google Scholar), two clinical trial registry platforms (ClinicalTrials.gov, WHO ICTRP), and by consulting expert opinion. We will assess availability bias, data accuracy, and data quality by cross-referencing provided data with data descriptions in the literature, identifying duplicates and nonsensical values, and extracting quality control metrics. Data will be synthesised via a two-stage IPD meta-analysis using a random effects modelling approach grouped by site. Reliability (inter- and intra-rater) outcomes will be measured as Gwet's AC1 coefficient. Validity (known-groups and known-stimuli) outcomes will be measured as EEG response magnitude differences between clinically meaningfully different stimuli. Interpretability will be addressed by providing normative values, in both original and standardised units. DISCUSSION: The purpose of this study is to establish the reliability, validity, and interpretability of a specific EEG-based response biomarker for assessing acute somatic nociceptive pain in neonates. It will provide an overview of available data and how EEG is being used globally to assess acute neonatal pain. If sufficient IPD are made available and the outcome is reliable, valid, and interpretable, this work will support the use of EEG-based outcome measures as primary endpoints in clinical trials assessing analgesic efficacy in neonates. SYSTEMATIC REVIEW REGISTRATION: The protocol was registered with PROSPERO on 14 July 2023: CRD42023444809.
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aims to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, systematically assess the spectrum of clinical phenotypes using standardized measures and explore potential genotype-phenotype correlations. In this cross-sectional cohort study, individuals diagnosed with CTNNB1 neurodevelopmental syndrome underwent structured interviews using standardized scales to evaluate motor skills, speech, communication, feeding abilities, visual function, neurodevelopment, and psychopathology. Genetic variants were analyzed, and in a subset of cases, the impact of β-catenin variants on the Wnt/β-catenin signaling pathway was assessed. Across the 127 included participants (mean age: 70 months; range: 7-242 months) from 20 countries, we identified 88 different variants of the CTNNB1 gene, 87 of which were predicted to lead to loss of CTNNB1 function. Functional assays demonstrated reduced Wnt signaling activity, including 11 variants that also exhibited a dominant-negative effect. One missense variant demonstrated a gain-of-function effect. Dominant-negative variants were not clearly associated with a distinct phenotype, however, those with missense variants presented a milder phenotype, including earlier achievement of independent walking, fewer motor impairments, better conceptual and social skills, improved communication, and fewer feeding difficulties. This study describes genetic, functional, and phenotypic characteristics in individuals with CTNNB1 neurodevelopmental syndrome. Further investigation into the genotypic and phenotypic characteristics of this syndrome and their interrelationships is essential to deepen our understanding of the disorder and inform the development of targeted therapies.
AI-Assisted Consent in Paediatric Medicine: Ethical Implications of Using Large Language Models to Support Decision-Making
Obtaining informed consent in paediatrics is an essential yet ethically complex aspect of clinical practice. Children have varying levels of autonomy and understanding based on their age and developmental maturity, with parents traditionally playing a central role in decision-making. However, there is increasing recognition of children’s evolving capacities and their right to be involved in care decisions, raising questions about facilitating meaningful consent, or at least assent, in complex medical situations. Large language models (LLMs) may offer a partial solution to these challenges. These generative AI systems can provide interactive, age-appropriate explanations of medical procedures, risks, and outcomes tailored to each child’s comprehension level. LLMs could be designed to adapt their responses to young patients’ cognitive and emotional needs while supporting parents with clear, accessible medical information. This paper examines the ethical implications of using LLMs in paediatric consent, focusing on balancing autonomy promotion with protecting children’s best interests. We explore how LLMs could be used to empower children to express preferences, mediate family disputes, and facilitate informed consent. However, important concerns arise: Can LLMs adequately support developing autonomy? Might they exert undue influence or worsen conflicts between family members and healthcare providers? We conclude that while LLMs could enhance paediatric consent processes with appropriate safeguards and careful integration into clinical practice, their implementation must be approached cautiously. These systems should complement rather than replace the essential human elements of empathy, judgment, and trust in paediatric consent.
The heart of palliative care is relational: a scoping review of the ethics of care in palliative medicine.
BACKGROUND: Palliative care, perhaps more than any subspecialty in healthcare, is deeply relational and engages patients and families at times of great vulnerability. Ethics of care, or relational ethics, developed through contributions from feminist ethics, offers conceptual tools and ways of thinking that seem especially suited to palliative care practice. AIM: To identify and describe studies and theoretical analyses applying the ethics of care to palliative care (both adult and paediatric), specifically, its use to guide and improve practice and education for palliative care practitioners. DESIGN: We conducted a scoping review of six databases covering clinical, social science and normative ethics scholarship and conducted a thematic analysis of the findings and ethical discussions or arguments. DATA SOURCES: Databases searched included PubMed, CINAHL, PsychINFO, EMBASE, Web of Science and Philosopher's Index from 1982 to November 2024. RESULTS: 30 publications meeting our inclusion criteria were identified. Major themes reflected the relational obligations, attributes and character traits ideally developed in palliative care providers in their work and relationships with patients and families, including responsiveness, connectedness and hope, as well as in caring for ourselves and each other on palliative care teams. An emerging literature recognises the special guidance for palliative care for children. CONCLUSIONS: Clinical and ethical scholarship in palliative care reveals a valuable but still underexplored connection between the ethical commitments within the ethics of care tradition and palliative care training and practice. Ethics of care addresses important gaps in training, particularly having to do with practitioners' relationships and ways of being with patients, families, colleagues and themselves.
Implied consent for HIV testing in the UK: time for a new approach?
Despite HIV infection being a treatable chronic illness and the many advances in testing for HIV, late diagnosis is still common, with associated avoidable morbidity and mortality. Requirements for explicit consent for HIV testing in the UK differ from those for other blood tests and are major barriers to testing. We argue that the disparity is illogical and outdated. We propose a model for normalising HIV testing that allows for routine testing in various health-care settings via implied consent, where other blood tests are performed. Inclusion of testing for hepatitis B and hepatitis C might also be incorporated into this model. The ethical argument for this approach is principally beneficence towards people with undiagnosed infection and the people they might infect. Patient autonomy would be maintained using systems allowing for individuals to opt out of implied consent.