A holistic approach to fragile X syndrome integrated guidance for person-centred care.

BACKGROUND: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). METHODS: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who have worked with those living with FXS over many years. RESULTS: The article scopes proposed integrated guidance over the life course, including appendices of symptoms, comorbidities and referral options for FXS and Fragile X Premutation Associated Conditions. CONCLUSION: Integrated guidance would provide an authoritative source for doctors, health professionals, therapists, care workers, social workers, educators, employers, families and those living with FXS, so that a holistic, person-centred approach can be taken across the United Kingdom to garner the best outcomes for those with FXS.

Naming and Describing Disability in Law and Medicine.

This article explores the effects of naming and describing disability in law and medicine. Instead of focusing on substantive issues like medical treatment or legal rights, it will address questions which arise in relation to the use of language itself. When a label which is attached to a disability is associated with a negative meaning, this can have a profound effect on the individual concerned and can create stigma. Overly negative descriptions of disabilities can be misleading, not only for the individual, but also more broadly in society, if there are inaccurate perceptions about disability in the social context. This article will examine some relevant examples of terminology, where these issues arise. It will also suggest that the role of medicine and the law in naming and describing disability is particularly important because in these areas there is, perhaps more than anywhere else, a recognized source of authority for the choice of terminology. Labels and descriptions used in the medical and legal contexts can not only perpetuate existing stigmatization of disabled people, but can also contribute to creating stigma at its source, given that the words used in these contexts can constitute an exercise of power.

Pre-natal testing, excessive parenting and care ethics.

This article explores the current parenting culture, particularly the promotion of competitive and excessive parenting, as an important background issue against which the debates around pre-natal testing take place. It offers an alternative vision of parenting, relying on care ethics, which sees parenting as a relationship, rather than a job. A relationship that should change a parent's understanding of what is valuable in life. Parenting should not be about moulding the 'perfect child' but being open to being profoundly changed. The parent-child with a disability relationship offers particular opportunities to find new meanings and values in life. This analysis is offered as another dimension to the debates over pre-natal testing. It is not intended as an argument against such testing, but rather raises concerns about some of the broader attitudes around it.

Sharing Vulnerabilities in the Woman Patient/Doctor Encounter.

This article is an examination of the doctor-woman patient encounter through a vulnerability lens. This relationship has been traditionally been critiqued as a paternalistic encounter in which the remedy was to recognize the patient's rights of autonomy. In this article, it is suggested that a more helpful approach is to recognize the vulnerability of both the patient and doctor. This encourages an interaction that involves seeking a mutual and collaborative response to the issues facing the patient.

The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations.

The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word "retardation" in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP). There are further genes which have "retardation" or abbreviations for "retardation" in their names or full designations, including FMR1, FMR2, FXR1, FXR2, NUFIP1, AFF1, CYFIP1, etc. "Retardation" was commonly used as a term in years past, but now any reference, even in an abbreviation, is offensive. This article discusses the stigmatisation associated with "retardation", which leads to discrimination; the inaccuracy of using "retardation" in these designations; and the breadth of fragile X syndrome being beyond that of neurodiversity. A more inclusive terminology is called for, one which ceases to use any reference to "retardation". Precedents for offensive gene names being altered is set out. The proposal is to approach the HGNC (HUGO [Human Genome Organisation] Gene Nomenclature Committee) for new terminology to be enacted. Ideas from other researchers in the field are welcomed.

DNACPR decisions during Covid-19: An empirical and analytical study.

Considerable concern has arisen during the Covid pandemic over the use of Do Not Attempt Cardiopulmonary Resuscitation decisions (DNACPRs) in England and Wales, particularly around the potential blanket application of them on older adults and those with learning disabilities. In this article, we set out the legal background to DNACPRs in England and the concerns raised during Covid. We also report on an empirical study that examined the use of DNACPRs across 23 Trusts in England, which found overall increases in the number of patients with a DNACPR decision during the two main Covid 'waves' (23 March 2020-31 January 2021) compared with the previous year. We found that these increases were largest among those in mid-life age groups, despite older patients (in particular, older women) having a higher number of DNACPR decisions overall. However, further analysis revealed that DNACPR decisions remained fairly consistent with regard to patient sex and age, with small reductions seen in the oldest age groups. We found that a disproportionate number of Black Caribbean patients had a DNACPR decision. Overall, approximately one in five patients was not consulted about the DNACPR decision, but during the first Covid wave more patients were consulted than pre-Covid.

Willingness of children and adolescents to have a COVID-19 vaccination: Results of a large whole schools survey in England.

BACKGROUND: Vaccine hesitancy has affected COVID-19 adult vaccination programs in many countries. Data on hesitancy amongst child and adolescent populations is largely confined to parent opinion. We investigated the characteristics of vaccine hesitant children and adolescents using results from a large, school-based self-report survey of the willingness to have a COVID-19 vaccination in students aged 9 -18 years in England. METHODS: Data from the OxWell Student Survey on mental health, life experiences and behaviours were used, collected from four counties across England. Local authority partners recruited schools. The vaccine hesitancy question gave six response options and were clustered to inform delivery: eager and willing were categorised as vaccination 'opt-in', don't know and not bothered categorised as 'undecided', and unwilling and anti-vaccination categorised as 'opt-out'. We conducted a multinomial regression to determine associations between vaccine hesitancy and sociodemographic, health behaviour and social connection variables. FINDINGS: 27,910 students from 180 schools answered the vaccine hesitancy question between 14th May and 21st July 2021, of whom 13984 (50.1%) would opt-in to take a vaccination, 10322 (37.0%) were undecided, and 3604 (12.9%) would opt-out. A lower percentage of younger students reported that they would opt-in to vaccination, for example, 35.7% of 9-year-olds and 51.3% of 13-year-olds compared to 77.8% of 17-year-olds would opt-in to take a vaccination. Students who were 'opt-out' or 'undecided' (a combined 'vaccine hesitant' group) were more likely to come from deprived socioeconomic contexts with higher rates of home rental versus home ownership and their school locations were more likely to be in areas of greater deprivation. They were more likely to smoke or vape, spend longer on social media, feel that they did not belong in their school community but had lower levels of anxiety and depression. The vaccine hesitant students- the undecided and opt-out groups- were similar in profile, although the opt-out students had higher reported confirmed or probable previous COVID-19 infection than the opt-in group, whereas those undecided, did not. INTERPRETATION: If government vaccination strategies move towards vaccinating younger school-aged students, efforts to increase vaccination uptake may be necessary. Compared with students who would opt-in, those who were vaccine hesitant had greater indicators of social deprivation and felt a lack of community cohesion by not feeling a sense of belonging at their school. There were indications that those students who would opt-out had higher levels of marginalisation and mistrust. If programmes are rolled out, focus on hesitant younger students will be important, targeting more marginalised and deprived young people with information from trusted sources utilising social media; improving access to vaccination centres with provision both in and outside school; and addressing fears and worries about the effects of the vaccine. The main limitation of this study is that the participant group may not be wholly representative of England or the UK, which may bias population-level estimates of willingness to be vaccinated. FUNDING: The Westminster Foundation, the National Institute for Health Research (NIHR) Applied Research Collaboration Oxford and Thames Valley at Oxford Health NHS Foundation Trust and the NIHR Oxford Health Biomedical Research Centre.

'Advice, not orders'? The evolving legal status of clinical guidelines.

Healthcare professionals are expected to deliver care that is consistent with clinical guidelines. In this article, we show that the English courts are increasingly willing to be persuaded by written guidelines when determining the standard of care in cases of alleged clinical negligence. This reflects a wider shift in the approach taken by courts in a number of common law jurisdictions around the world. However, we argue that written guidelines are still only one element that courts should consider when determining the standard of care. It is possible to deliver perfect care that deviates from professional guidelines and even to deliver negligent care by uncritically following a guideline that is flawed. We further argue that written guidelines are relevant beyond defining the accepted standard of care. This is because the decision to deviate from a guideline suggests the existence of multiple approaches that should be discussed with patients as part of ensuring informed consent. It is therefore likely that written guidelines will become an even more prominent feature of the medicolegal landscape in future years.

Ethical framework for adult social care in COVID-19.

In March 2020, the Government produced a document entitled "Responding to COVID-19: The Ethical Framework for Adult Social Care" ('The Ethical Framework'). In this article, we summarise the key features of the proposed ethical framework and subject it to critical analysis. We highlight three primary issues. First, the emphasis placed on autonomy as the primary ethical principle. We argue if ever there was a context in which autonomy should dominate the ethical analysis, this is not it. Second, we examine the interface between ethics and law which is largely overlooked in the document. Finally, we explore the surprising lack of attention paid to the concept of responsibility and communal obligations within the framework.

Fragile X Premutation Associated Conditions (FXPAC).

The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation. To date, there has not been an umbrella term assigned to issues associated with the FMR1 premutation, though several defined conditions which affect some premutation carriers, namely Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), are now commonly accepted. An overarching term covering all FX premutation conditions will help doctors in determining how the premutation might be affecting their patient; and encourage researchers to explore the interrelationships of the various conditions affecting premutation carriers. Further, there are ongoing discoveries about physical and psychological issues faced by premutation carriers, and a new term helps encompass all of these burgeoning developments.

Shared decision making and consent post-Montgomery, UK Supreme Court judgement supporting best practice.

The UK Supreme Court Montgomery judgement marks a decisive shift in the legal test of duty of care in the context of consent to treatment from the perspective of the clinician (as represented by Bolam rules) to that of the patient. This has important implications in the surgical field worldwide, where informed consent is critical. This paper aims to explain the ruling and how it impacts the consent process. The case and ruling are outlined and summarised as pertaining to consent and requirements for validity; a shift from the clinician's interpretation about what would be best for patients to the values of the particular patient concerned in the decision in question. A sample of recent commentaries is reviewed. Four examples illustrate some of the practical applications of the Montgomery ruling on consent and how the ruling can empower doctors and patients to make mutually beneficial shared decisions. Future consent should be obtained using a Montgomery compliant strategy in accordance with the principles of shared decision making.

Deep brain stimulation and revising the Mental Health Act: the case for intervention-specific safeguards.

Under the current Mental Health Act of England and Wales, it is lawful to perform deep brain stimulation in the absence of consent and independent approval. We argue against the Care Quality Commission's preferred strategy of addressing this problematic issue, and offer recommendations for deep brain stimulation-specific provisions in a revised Mental Health Act.Declaration of interestT.A. is a paid consultant for Boston Scientific, Medtronic and St. Jude Medical. He has received honoraria from Abbott, Boston and Medtronics and served as consultant to all three.

Between the Reasonable and the Particular: Deflating Autonomy in the Legal Regulation of Informed Consent to Medical Treatment.

The law of informed consent to medical treatment has recently been extensively overhauled in England. The 2015 Montgomery judgment has done away with the long-held position that the information to be disclosed by doctors when obtaining valid consent from patients should be determined on the basis of what a reasonable body of medical opinion agree ought to be disclosed in the circumstances. The UK Supreme Court concluded that the information that is material to a patient's decision should instead be judged by reference to a new two-limbed test founded on the notions of the 'reasonable person' and the 'particular patient'. The rationale outlined in Montgomery for this new test of materiality, and academic comment on the ruling's significance, has focused on the central ethical importance that the law now (rightfully) accords to respect for patient autonomy in the process of obtaining consent from patients. In this paper, we dispute the claim that the new test of materiality articulated in Montgomery equates with respect for autonomy being given primacy in re-shaping the development of the law in this area. We also defend this position, arguing that our revised interpretation of Montgomery's significance does not equate with a failure by the courts to give due legal consideration to what is owed to patients as autonomous decision-makers in the consent process. Instead, Montgomery correctly implies that doctors are ethically (and legally) obliged to attend to a number of relevant ethical considerations in framing decisions about consent to treatment, which include subtle interpretations of the values of autonomy and well-being. Doctors should give appropriate consideration to how these values are fleshed out and balanced in context in order to specify precisely what information ought to be disclosed to a patient as a requirement of obtaining consent, and as a core component of shared decision-making within medical encounters more generally.

Elbow Room for Best Practice? Montgomery, Patients' values, and Balanced Decision-Making in Person-Centred Clinical Care.

The UK Supreme Court Montgomery judgment marks a decisive shift in the legal test of duty of care in the context of consent to treatment, from the perspective of the clinician (as represented by Bolam rules) to that of the patient. A majority of commentators on Montgomery have focused on the implications of the judgment for disclosure of risk. In this article, we set risk disclosure in context with three further elements of the judgment: benefits, options, and dialogue. These elements, we argue, taken together with risk disclosure, reflect the origins of the Montgomery ruling in a model of consent based on autonomy of patient choice through shared decision-making with their doctor. This model reflects recent developments in both law and medicine and is widely regarded (by the General Medical Council and others) as representing best practice in contemporary person-centred medicine. So understood, we suggest, the shift marked by Montgomery in the basis of duty of care is a shift in underpinning values: it is a shift from the clinician's interpretation about what would be best for patients to the values of (to what is significant or matters from the perspective of) the particular patient concerned in the decision in question. But the values of the particular patient do not thereby become paramount. The Montgomery test of duty of care requires the values of the particular patient to be balanced alongside the values of a reasonable person in the patient's position. We illustrate some of the practical challenges arising from the balance of considerations required by Montgomery with examples from surgical care. These examples show the extent to which Montgomery, in mirroring the realities of clinical decision-making, provides elbowroom for best practice in person-centred clinical care.

Doctor in court: what do lawyers really need from doctors, and what can doctors learn from lawyers?

Doctors and lawyers are usually well-educated, thoughtful people. Both groups have to assimilate large amounts of information and use it to make decisions. But the way that they do it is very different. Doctors have a better chance of helping courts to make good decisions if they understand exactly what courts need from them.

Health as Vulnerability; Interdependence and Relationality.

This article challenges the assumptions that underpin many discussions about health. In particular the view that healthy people are autonomous, self-sufficient and contained. It will argue that in our nature humans are, and should be, vulnerable, interdependent and caring. Health must be understood in a way which recognises that. We should not hide from the precarious, leaky, relational aspect of our bodies, but rejoice in them.

Testing the limits of the 'joint account' model of genetic information: a legal thought experiment.

We examine the likely reception in the courtroom of the 'joint account' model of genetic confidentiality. We conclude that the model, as modified by Gilbar and others, is workable and reflects, better than more conventional legal approaches, both the biological and psychological realities and the obligations owed under Articles 8 and 10 of the European Convention on Human Rights (ECHR).