Objectives: To study the consent process experienced by participants who are enrolled in a molecular genetic research study that aims to find new genetic mutations responsible for an apparently inherited disorder.Design: Semi-structured interviews and analysis/description of main themes.Participants: 78 members of 52 families who had been recruited to a molecular genetic study.Results: People were well informed about the goals, risks and benefits of the genetic research study but could not remember the consent process. They had mostly been recruited to take (...) part by trusted clinicians or their relatives but had little memory of, or concern about signing consent forms. Families appeared to regard the research as a continuation of their, or their relatives’, clinical care.Conclusions: Ethical review should be more flexible in its attitude to consent forms and written information sheets for some sorts of research. For rare genetic disease studies where research has been discussed fully within the clinical setting then the consent obtained at that time could suffice rather than needing extra consent at a later stage. However, clinician-researchers will need to ensure that their duty of care extends for the duration of the research and beyond. (shrink)

Gaucher disease is a rare, chronic,ethnic-specific genetic disorder affecting Jewsof Eastern European descent. It is extremelyexpensive to treat and presents difficultdilemmas for officials and patients in Israelwhere many patients live. First, high-cost,high-benefit, but low volume treatment forGaucher creates severe allocation dilemmas forpolicy makers. Allocation policies driven bycost effectiveness, age, opportunity or needmake it difficult to justify funding. Processoriented decision making based on terms of faircooperation or decisions invoking the ``rule ofrescue'''' risk discriminating against minoritieswho may already suffer from inequitabledistribution (...) of heath care resources. Apartfrom cost, Gaucher disease prompts questionsabout abortion. Unlike severe geneticdisorders, Gaucher offers no grounds forabortion and, in many ways, is analogous togender based abortions that are prohibitedregardless of fetal age. Finally, Gaucherraises concerns about the disclosure of geneticinformation. These affect potential carriersasked to participate in population studies andcarriers and patients who must considerdisclosure to others. These concerns weigh theright to privacy against communal interests andbilateral commitments. (shrink)

Source [1] Andrew E. P. Mitchell, Federica Galli, Sondra Butterworth. (2023). Editorial: Equality, diversity and inclusive research for diverse rare disease communities. Front. Psychol., vol. 14. doi:10.3389/fpsyg.2023.1285774. "It is also important to recognize that certain mental health disorders are classified as rare conditions and have their own cultural concepts of distress, as defined in the DSM-5 (American Psychiatric Association, 2013)" and require “equal attention and support for individuals and their families, both physically and emotionally”. [1].

It is important to note that certain mental health disorders are classified as rare conditions, and they have their own ‘cultural concepts of distress’ as defined in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM 5). Cultural concepts of distress are a recent attempt to understand psychological distress influenced by culture, separate from biomedical diagnoses that require equal attention and support for individuals and their families, both physically and emotionally. [1].

Defining Mental Disorder: Jerome Wakefield and His Critics, edited by Denis Forest and Luc Faucher, is essential reading for students and researchers in philosophy of medicine whose work is informed by that of Jerome Wakefield, or the disease debate in general. If you are anything like me, this book will open the door to a new depth of understanding of the harmful dysfunction analysis (HDA) and its methodical underpinnings, and an enriched appreciation of what is at stake in defining medical (...) disorder. To those confident that they understand Wakefield’s view and the surrounding debate, thinking perhaps that they do not need a refresher, I would say: perhaps you do not understand it as well as you think. Defining Mental Disorder provides much more than an overview of previously well-trodden ground. The chapters themselves, and Wakefield’s own detailed responses, help to elucidate a number of methodological nuances and peculiarities that have rarely been covered in such depth before. I was startled to learn how philosophically complex Wakefield’s position actually is, and how shallow my own understanding of it has been. It emerges as a far more nuanced and sophisticated account than I had given it credit for, and one that deserves serious reevaluation. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:What Makes a Mental Disorder Mental?Jerome C. Wakefield (bio)Keywordsharmful dysfunction, mental disorder, intentionality, mental dysfunction, mental functioning, phenomenality, somatic disorderWhat makes a medical disorder mental rather than (exclusively) somatic or physical? Psychiatry to some extent depends for its existence as a medical specialty on the distinction between mental and somatic disorders, yet the history of this distinction presents a bewildering array of puzzling judgments, radical shifts, and seemingly (...) arbitrary distinctions. The historical observation that putative mental disorders are often reclassified as physical disorders as soon as their physiologic basis is understood further confuses matters. Moreover, recent debates about such classifications often seem to reflect desires to protect professional turf or obtain optimal reimbursement for treatment more than they do the application of a coherent conceptual distinction. No wonder that Brülde and Radovic (2006) disarmingly admit at the outset of their exploration of this question that there is a case to be made that their topic is relatively unimportant or even meaningless intellectually, a rare way to start an inquiry!Could there nonetheless be a cogent conceptual distinction lurking here? Brülde and Radovic usefully invite us to reframe the question, in effect as follows: Suppose we pay attention to professional and lay judgments as evidence but at the same time try to avoid being ensnared by the distortions resulting from turf issues and other pragmatic motives and constraints. Can we then identify some principled distinction in this domain that is worth making and that interestingly corresponds to the distinction generally made between mental disorders and strictly somatic disorders? Brülde and Radovic do not come to any confident or compelling conclusion about this.My answer, based on my harmful dysfunction analysis of disorder (Wakefield, 1992a, 1992b, 1999a, 1999b), is that a mental disorder is a harmful mental dysfunction, where a mental dysfunction is a failure of the capacity of some mental mechanism to perform a function for which it was biologically designed. I argue that, owing to a series of logical missteps, Brülde and Radovic needlessly reject this view. After some preliminary comments and clarifications, I defend the internal dysfunction approach from the objections posed by Brülde and Radovic, and then conclude by elaborating this view in some new ways. Note that Brülde and Radovic critique something they call the "internal cause view" of what makes a disorder mental, and they name others who hold that view. However, my work figures prominently in their discussion, and for expository simplicity, I will presume to simply construe their arguments as aimed at the harmful dysfunction analysis. [End Page 123]Clarifying the QuestionIt is easy to misconstrue the question "What makes a mental disorder mental" as demanding a precise account of the mental, an error to which Brülde and Radovic succumb in their repeated complaints that various writers do not present principled accounts of the mental but rely on lists of prototypical mental states or tentative guidelines to fix the reference of mental. We would need a precise definition of mental if the problem were how to classify cases in which it is ambiguous whether some phenomenon is mental or physical. We might imagine, for example, someone being genuinely puzzled as to whether inability to sleep is failure of a mental function or process. But this sort of puzzle about the boundaries of the mental is not the problem with which Brülde and Radovic are concerned; anyway, ambiguous cases may just be inherently ambiguous. The problem, which a crisp definition of mental will not resolve, is what relation mental states or mechanisms must have to a disorder to make it a mental disorder; must there be mental symptoms, or mental dysfunctions, or either one, and so on? But, even if a precise resolution of the nature of the mental is not needed, some notion of the mental domain is essential in pursuing this discussion. We can pick out the mental ostensively, by pointing to lots of examples (e.g., perception, motivation, emotion, thought, and sensation) much more confidently than we can define it in a principled way. But because Brülde and Radovic find fault in such ostensive reference fixing, let me... (shrink)

The rare phenomenon in which a person desires amputation of a healthy limb, now often termed body integrity identity disorder, raises central questions for biomedical ethics. Standard bioethical discussions of surgical intervention in such cases fail to address the meaning of bodily integrity, which is intrinsic to a theological understanding of the goodness of the body. However, moral theological responses are liable to assume that such interventions necessarily represent an implicitly docetic manipulation of the body. Through detailed attention to (...) the ethics of mutilation and of surgery for psychiatric disorders, this article explores the theological and ethical significance of the body for human identity. (shrink)

The term body integrity identity disorder (BIID) describes the extremely rare phenomenon of persons who desire the amputation of one or more healthy limbs or who desire a paralysis. Some of these persons mutilate themselves; others ask surgeons for an amputation or for the transection of their spinal cord. Psychologists and physicians explain this phenomenon in quite different ways; but a successful psychotherapeutic or pharmaceutical therapy is not known. Lobbies of persons suffering from BIID explain the desire for amputation (...) in analogy to the desire of transsexuals for surgical sex reassignment. Medical ethicists discuss the controversy about elective amputations of healthy limbs: on the one hand the principle of autonomy is used to deduce the right for body modifications; on the other hand the autonomy of BIID patients is doubted. Neurological results suggest that BIID is a brain disorder producing a disruption of the body image, for which parallels for stroke patients are known. If BIID were a neuropsychological disturbance, which includes missing insight into the illness and a specific lack of autonomy, then amputations would be contraindicated and must be evaluated as bodily injuries of mentally disordered patients. Instead of only curing the symptom, a causal therapy should be developed to integrate the alien limb into the body image. (shrink)

Disorders of Consciousness (DoCs) raise difficult and complex questions about the value of life for persons with impaired consciousness, the rights of persons unable to make medical decisions, and our social, medical, and ethical obligations to patients whose personhood has frequently been challenged and neglected. Recent neuroscientific discoveries have led to enhanced understanding of the heterogeneity of these disorders, and focused renewed attention on the medical and ethical problem of misdiagnosis. -/- This book examines the entanglement of epistemic (...) and ethical uncertainty in DoCs and other medical contexts, and how they interact to create both epistemic and ethical risks. Philosopher and bioethicist L. Syd M Johnson pulls together multiple threads in this work: the ontological mysteries of consciousness, medical uncertainty about unconsciousness, ableist bias, withdrawal of treatment in neurointensive care, and the rarely questioned view that consciousness is essential to personhood and moral status. Johnson challenges longstanding bioethical dogmas about DoC patients, and argues for an ethics of uncertainty for contexts where there is a need for decisive action in the presence of unavoidable uncertainty. The ethics of uncertainty refocuses ethical inquiry concerning persons with DoCs, placing less emphasis on their contested personhood, and more on inductive risk and uncertainty, on respect for autonomy, and especially on epistemic justice. With applications to various decisional contexts where uncertainty and ethical risk interact, this ethical approach enables surrogate decision makers facing fraught and risky choices to fulfill their obligations as moral and epistemic agents. (shrink)

Body integrity identity disorder is a very rare condition in which people experience long-standing anguish because there is a mismatch between their bodies and their internal image of how their bodies should be. Most typically, these people are deeply distressed by the presence of what they openly acknowledge as a perfectly normal leg. Some with the condition request that their limb be amputated. 1 We and others have argued that such requests should be acceded to in carefully selected patients.1–4 (...) Consistent with this view, a group at the University of Sydney is developing a programme to better understand and treat BIID and to offer amputation if appropriate. In a recent paper, Patrone argues that such amputations should be prohibited.5 He suggests that authors supporting amputation in BIID depend on analogies with more familiar conditions and then claim that the ‘the desires, choices and requests of BIID patients should be held to exactly the same standards and treated with exactly the same respect as the desires, choices and requests of any more conventional patient’.5 He believes that these analogies are invalid and that therefore the arguments for amputation are invalid.Patrone concentrates a great deal upon whether a decision to have a particular medical intervention is to be regarded as ‘rational’. Unfortunately, he makes no attempt to define what he …. (shrink)

Body integrity identity disorder (BIID), previously called apotemnophilia, is an extremely rare condition where sufferers desire the amputation of a healthy limb because of distress associated with its presence. This paper reviews the medical and philosophical literature on BIID. It proposes an evidenced based and ethically informed approach to its management. Amputation of a healthy limb is an ethically defensible treatment option in BIID and should be offered in some circumstances, but only after clarification of the diagnosis and consideration (...) of other treatment options. (shrink)

Decades ago, several authors have proposed that disorders in automatic processing lead to intrusive symptoms or abnormal contents in the consciousness of people with schizophrenia. However, since then, studies have mainly highlighted difficulties in patients’ conscious experiencing and processing but rarely explored how unconscious and conscious mechanisms may interact in producing this experience. We report three lines of research, focusing on the processing of spatial frequencies, unpleasant information, and time-event structure that suggest that impairments occur at both the unconscious (...) and conscious level.We argue that focusing on unconscious, physiological and automatic processing of information in patients, while contrasting that processing with conscious processing, is a first required step before understanding how distortions or other impairments emerge at the conscious level. We then indicate that the phenomenological tradition of psychiatry supports a similar claim and provides a theoretical framework helping to understand the relationship between the impairments and clinical symptoms. We base our argument on the presence of disorders in the minimal self in patients with schizophrenia. The minimal self is tacit and non-verbal and refers to the sense of bodily presence. We argue this sense is shaped by unconscious processes, whose alteration may thus affect the feeling of being a unique individual. This justifies a focus on unconscious mechanisms and a distinction from those associated with consciousness. (shrink)

Visual Agnosia is a comprehensive and up-to-date review of disorders of higher vision that relates these disorders to current conceptions of higher vision from cognitive science, illuminating both the neuropsychological disorders and the nature of normal visual object recognition.Brain damage can lead to selective problems with visual perception, including visual agnosia the inability to recognize objects even though elementary visual functions remain unimpaired. Such disorders are relatively rare, yet they provide a window onto how the (...) normal brain might accomplish the complex task of vision. Visual Agnosia reviews a century of case studies of higher-level visual deficits following brain damage, places them in the general context of current neuroscience, and draws relevant conclusions about the organization of normal visual processing. It is unique in drawing on research in cognitive psychology, computational vision, visual neurophysiology, and neuropsychology to interpret the agnosias and draw inferences from them about visual object recognition.Following a historical account of agnosia research, Visual Agnosia offers a taxonomy of a wide range of agnosia syndromes, describing and interpreting the syndromes in terms of the latest theoretical models of visual processing and ultimately bringing them to bear as evidence on a variety of questions in the study of higher vision.Martha J. Farah is Associate Professor of Psychology at Carnegie Mellon University. Visual Agnosia is included in the Issues in Biology of Language and Cognition series, edited by John Marshall. (shrink)

All definitions of mental disorder are backed up by arguments that rely on general criteria (e.g., that a definition should be consistent with ordinary language). These desiderata are rarely explicitly stated, and there has been no systematic discussion of how different definitions should be assessed. To arrive at a well-founded list of desiderata, we need to know the purpose of a definition. I argue that this purpose must be practical; it should, for example, help us determine who is entitled to (...) publicly funded health care. I then propose eight conditions of adequacy that can be used to assess competing definitions (e.g., the ordinary language condition, the coherence condition, and the condition of normative adequacy). These conditions pull in different directions, however, and we must decide which are most important. I also suggest that there is no single definition that can help us deal with all the relevant practical issues. (shrink)

Cardiac disease is the leading cause of death worldwide. Cardiovascular diseases can be prevented if an effective diagnostic is made at the initial stages. The ECG test is referred to as the diagnostic assistant tool for screening of cardiac disorder. The research purposes of a cardiac disorder detection system from 12-lead-based ECG Images. The healthcare institutes used various ECG equipment that present results in nonuniform formats of ECG images. The research study proposes a generalized methodology to process all formats of (...) ECG. Single Shoot Detection MobileNet v2-based Deep Neural Network architecture was used to detect cardiovascular disease detection. The study focused on detecting the four major cardiac abnormalities with 98% accuracy results were calculated. The work is relatively rare based on their dataset; a collection of 11,148 standard 12-lead-based ECG images used in this study were manually collected from health care institutes and annotated by the domain experts. The study achieved high accuracy results to differentiate and detect four major cardiac abnormalities. Several cardiologists manually verified the proposed system’s accuracy result and recommended that the proposed system can be used to screen for a cardiac disorder. (shrink)

For years, phenomenological psychiatry has proposed that distortions of the temporal structure of consciousness contribute to the abnormal experiences described before schizophrenia emerges, and may relate to basic disturbances in consciousness of the self. However, considering that temporality refers mainly to an implicit aspect of our relationship with the world, disturbances in the temporal structure of consciousness remain difficult to access. Nonetheless, previous studies have shown a correlation between self disorders and the automatic ability to expect an event in (...) time, suggesting timing is a key issue for the psychopathology of schizophrenia. Timing disorders may represent a target for cognitive remediation, but this requires that disorders can be demonstrated at an individual level. Since cognitive impairments in patients with schizophrenia are discrete, and there is no standardized timing exploration, we focused on timing impairments suggested to be related to self disorders. We present the case report of AF, a 22 year old man suffering from schizophrenia, with no antipsychotic intake. Although AF shows few positive and negative symptoms and has a normal neurocognitive assessment, he shows a high level of disturbance of Minimal Self Disorders (SDs) (assessed with the EASE scale). Moreover, AF has a rare ability to describe his self and time difficulties. An objective assessment of timing ability (variable foreperiod task) confirmed that AF had temporal impairments similar to those previously described in patients, i.e., a preserved ability to distinguish time intervals, but a difficulty to benefit from the passage of time to expect a visual stimulus. He presents additional difficulties in benefitting from temporal cues and adapting to changes in time delays. The impairments were ample enough to yield significant effects with analyses at the individual level. Although causal relationships between subjective and objective impairments cannot be established, the results show that exploring timing deficits at the individual level is possible in patients with schizophrenia. Besides, the results are consistent with hypotheses relating minimal self disorders (SDs) to timing difficulties. They suggest that both subjective and objective timing investigations should be developed further so that their use at an individual level can be generalized in clinical practice. (shrink)

Rarely in economics does the field see such unambiguous causation as in the case of the Covid-19 shut down of the global economy. Pretty well every economist would agree to this proposition and whi...

“The addict” is a well-known figure in philosophy, but analytical attempts to define “addictive disorder” are rare. According to extant views, the “hallmark” of addiction lies in an individual’s inability or impaired ability to control the behavior the individual is addicted to doing. But how exactly are we to understand the relevant concept of (in)ability (or impaired ability) in the first place? Furthermore, what else is necessary for an individual to have an addictive disorder? I argue for a definition (...) of “addictive disorder” in terms of desire, tolerance and withdrawal, inability, and harm. The main focus of this paper is on the concept of ability. The view I propose integrates insights from the literature on abilities and develops them further as they are relevant to addiction. The resulting view offers a more differentiated perspective on questions about what individuals with an addictive disorder can and cannot do. (shrink)

When health budgets are insufficient to provide care for all, allocating resources to treat a person with a rare and expensive disorder entails that we cannot treat at least one person with a more common, less expensive disorder. Since any allocation scheme will entail such trade‐offs, how should prudent policy‐makers, concerned about justice and fairness, allocate their community's health resources? In their article in this issue of the Hastings Center Report, Emily Largent and Steven Pearson frame this problem as (...) a conflict between the “rule of rescue” and utilitarian allocation schemes that try to maximize the benefits produced by a given budget. In his article, Norman Daniels discusses the related problem of the “identified victim bias.” I doubt that the problem of crafting an equitable health policy regarding orphan diseases maps onto either of these factors in a way that sheds light on the key moral issues. (shrink)

As the 20th century began, few effective therapies existed. This soon changed with major therapeutic discoveries turning the century into what has been called the golden age of therapeutics.1 The emphasis of most of these developments was on medicines for common disorders as they presented the greatest need. However, it also allowed pharmaceutical manufacturers to produce blockbuster drugs that provided a large return on investment. Rare disorders were overlooked because most are genetic in origin and scientific knowledge (...) was lacking, making it difficult to find treatments. The first genetic disorder with a therapy was phenylketonuria. The biochemist who proposed the first successful treatment in the 1950s was actively discouraged as phenylketonuria was genetic and ‘incurable’.2 Another reason was an absence of incentives to invest in developing medicines for which the return was limited, given the small numbers of potential patients. This changed from 1983 as several countries began introducing orphan drug policies, with Canada being a notable exception. As the millennium changed, some drugs for rare disorders were available, but the sequencing of the human genome in the early 2000s provided scientific knowledge to develop many more. The new therapies are often costly because they require millions, even billions, of dollars and years to develop, test and satisfy regulatory standards. …. (shrink)

Body Integrity Identity Disorder (BIID) is a very rare condition describing those with an intense desire or need to move from a state of ability to relative impairment, typically through the amputation of one or more limbs. In this paper, I draw upon research in critical disability studies and philosophy of disability to critique arguments based upon the principle of nonmaleficence against such surgery. I demonstrate how the action-relative concept of harm in such arguments relies upon suspect notions of (...) biological and statistical normality, and I contend that each fail to provide normative guidance. I then propose a critical theory of harm, one marked by substantive engagement with both empirical and reflective inquiry across the sciences, social sciences, and humanities. I conclude by discussing the implications of this theory and how it might enrich ongoing debates in bioethics, philosophy of disability, and the health humanities. (shrink)

Rare diseases are a heterogenic group of disorders with a little in common except of their rarity affecting by less than 5 : 10.000 people. In the world is registered about 6000-8000 rare diseases with 6-8% suffering population only in the European Union. In spite of rarity, they represent an important medical and social problem due to their incidence. For many rare diseases have no treatment, but if it exists and if started on time as being (...) available to patients, there is a good prognosis for them to be able for normal life. The problems of patients affected by rare diseases are related to the lack of diagnosis and timely undergoing as well as their treatment or prevention. Orphan drugs are products intended for treatment, diagnosis or prevention of rare diseases, but for their development and marketing the industry has not been interested in yet because of their marketing reasons. Patients suffering from a rare disease although belonging to the vulnerable group for their specific health needs, is becoming invisible in the health care system due to their additional needs un properly recognized. Ethical problems faced by patients, but also health care professionals are related to the allocation of medical diagnostics, unequal approach to health care, inappropriately specialized social services as well as therapy and rare orphan drugs unavailability. Ethical questions related to clinical trails on orphan drugs, population screening and epidemiology testing on rare diseases will also be discussed in this paper. [Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects] Retke bolesti su veoma heterogena grupa poremecaja i imaju malo toga zajednickog osim retkosti, posto pogadjaju manje od pet osoba na 10.000 ljudi. U svetu je evidentirano izmedju 6.000 i 8.000 retkih bolesti koje pogadjaju sest do osam procenata stanovnistva samo u Evropskoj uniji. Dakle, iako retke, one predstavljaju vazan medicinski i socijalni problem s obzirom na broj obolelih. Za mnoge retke bolesti nema terapije, a ukoliko ona postoji i ako se na vreme zapocne i bude dostupna pacijentima, postoje dobri izgledi da ce oboleli moci da zive normalnim zivotom. Problemi s kojima se susrecu pacijenti sa retkim bolestima vezani su za dijagnostikovanje u smislu nemogucnosti ili nepravovremenog postavljanja dijagnoze, kao i same terapije ili prevencije pojave bolesti. Orphan lekovi su proizvodi koji su namenjeni za lecenje, dijagnozu ili prevenciju retkih bolesti, za ciji razvoj i marketing industrija nije zainteresovana iz trzisnih razloga. Pacijenti s retkim bolestima, iako pripadaju osetljivoj grupi, jer imaju specificne zdravstvene potrebe, ostaju nevidljivi u zdravstvenom sistemu, jer se njihove dodatne specificne potrebe ne prepoznaju. Eticki problemi s kojima se susrecu pacijenti, ali i zdravstveni radnici, ticu se alokacije zdravstvene dijagnostike, nejednakog pristupa zdravstvenoj zastiti i nezi, nedostatka specijalizovanih socijalnih usluga, kao i nepostojanja i nedostupnosti terapije orphan lekovima. Eticka pitanja retkih klinickih ispitivanja orphan lekova i populacionih i skrining ispitivanja u vezi sa retkim bolestima takodje su razmatrani u ovom radu. PR Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects. (shrink)

Disorders of consciousness (DOC) are a family of related neurological syndromes characterized by deficits of varying degrees of wakefulness (e.g., sleep–wake cycles and arousal) or awareness (e.g., reacting to stimuli, interacting with the environment). Although coma rarely persists for more than a few weeks, some patients remain in a subsequent vegetative state or a minimally conscious state for months or years. Caring for patients with DOC raises ethical questions, but the perspectives of healthcare providers on these questions remain poorly (...) documented. We conducted a qualitative study involving healthcare providers with different backgrounds. Semistructured interviews were used to explore attitudes toward ethical issues. We found that contextual (e.g., time, resource allocation) and relational aspects (e.g., communication process, families) shaped how ethical challenges surfaced and were managed. We call for greater awareness of contextual, institutional and social aspects and focus on these issues in training programs. (shrink)

The term body integrity identity disorder (BIID) describes the extremely rare phenomenon of persons who desire the amputation of one or more healthy limbs or who desire a paralysis. Some of these persons mutilate themselves; others ask surgeons for an amputation or for the transection of their spinal cord. Psychologists and physicians explain this phenomenon in quite different ways; but a successful psychotherapeutic or pharmaceutical therapy is not known. Lobbies of persons suffering from BIID explain the desire for amputation (...) in analogy to the desire of transsexuals for surgical sex reassignment. Medical ethicists discuss the controversy about elective amputations of healthy limbs: on the one hand the principle of autonomy is used to deduce the right for body modifications; on the other hand the autonomy of BIID patients is doubted. Neurological results suggest that BIID is a brain disorder producing a disruption of the body image, for which parallels for stroke patients are known. If BIID were a neuropsychological disturbance, which includes missing insight into the illness and a specific lack of autonomy, then amputations would be contraindicated and must be evaluated as bodily injuries of mentally disordered patients. Instead of only curing the symptom, a causal therapy should be developed to integrate the alien limb into the body image. (shrink)

The scene was pleasant on both sides. A cruder lover would have lost the view of her pretty ways and attitudes, and spoiled all by stupid attempts at caresses, utterly destructive of the drama. Grancourt preferred the drama. Gwendolen … found her spirits rising … as she played at reigning. Perhaps if Klesmer had seen more of her in this unconscious kind of acting, instead of when she was trying to be theatrical, he might have rated her chances [on stage] (...) higher.The histrionic personality disorder (HPD) stands at the intersection of ethics, ontology, and philosophy of psychiatry. Although HPD is a rarely probed diagnosis, it brings into relief the problems of gender and values in diagnosis, as well as nosological .. (shrink)

ABSTRACT Should surgeons be permitted to amputate healthy limbs if patients request such operations? We argue that if such patients are experiencing significant distress as a consequence of the rare psychological disorder named Body Integrity Identity Disorder (BIID), such operations might be permissible. We examine rival accounts of the origins of the desire for healthy limb amputations and argue that none are as plausible as the BIID hypothesis. We then turn to the moral arguments against such operations, and argue (...) that on the evidence available, none is compelling. BIID sufferers meet reasonable standards for rationality and autonomy: so as long as no other effective treatment for their disorder is available, surgeons ought to be allowed to accede to their requests. (shrink)

This essay, the last in a series, focuses on the relationship between Nietzsche’s mental illness and his philosophical art. It is predicated upon my original diagnosis of his mental condition as bipolar affective disorder, which began in early adulthood and continued throughout his creative life. The kaleidoscopic mood shifts allowed him to see things from different perspectives and may have imbued his writings with passion rarely encountered in philosophical texts. At times hovering on the verge of psychosis, Nietzsche was able (...) to gain access to unconscious images and the music of language, usually inhibited by the conscious mind. He reached many of his linguistic, psychological and philosophical insights by willing suspension of the rational. None of these, however, could have been communicated had he not tamed the subterranean psychic forces with his impressive discipline and hard work. (shrink)

Opioid use disorder rarely presents as a unitary psychiatric condition, and the comorbid symptoms likely depend upon the diverse risk factors and mechanisms by which OUD can arise. These factors are heterogeneous and include genetic predisposition, exposure to prescription opioids, and environmental risks. Crucially, one key environmental risk factor for OUD is early life adversity. OUD and other substance use disorders are widely considered to derive in part from abnormal reward circuit function, which is likely also implicated in comorbid (...) mental illnesses such as depression, bipolar disorder, and schizophrenia. ELA may disrupt reward circuit development and function in a manner predisposing to these disorders. Here, we describe new findings addressing the effects of ELA on reward circuitry that lead to OUD and comorbid disorders, potentially via shared neural mechanisms. We discuss some of these OUD-related problems in both humans and animals. We also highlight the increasingly apparent, crucial contribution of biological sex in mediating the range of ELA-induced disruptions of reward circuitry which may confer risk for the development of OUD and comorbid neuropsychiatric disorders. (shrink)

Enactive approaches to emotion are rare and to anxiety and anxiety disorder even more. This article aims to show how an enactive paradigm might be helpful in solving some problems in the clinical and scientific understanding of anxiety and anxiety disorder. I begin by pointing at a number of relevant clinical features of anxiety and anxiety disorder and by sketching how and why anxiety theories have difficulties with doing justice to these features. I specifically focus on two themes: a) (...) how to conceptualize anxiety as the expression of a dynamical interaction with the environment instead of as just a reaction to the environment (or to... (shrink)

Pierre-Henri Castel provides a short but richly argued precis of his recently published two-volume 1,000-page masterwork on the history of obsessive-compulsive disorder. Having not read the as-yet-untranslated books, I write this commentary from Plato’s cave, trying to infer the reality of Castel’s analysis from expository shadows. I am unlikely to be more successful than Plato’s poor troglodytes, so I apologize ahead of time for any misunderstandings. Moreover, I cannot assess Castel’s detailed evidential case for his substantive theses.1 I thus focus (...) on some key philosophical issues that impinge on an area of my concern, the concept of mental disorder. Castel is a rare breed of French.. (shrink)

Despite numerous studies on the treatment of developmental language disorder, the intervention effect has long been debated. Systematic reviews of the effect of language therapy alone are rare. This evidence-based study investigated the effect of language therapy alone for different expressive and receptive language levels in children with DLD. Publications in databases including PubMed, the Cochrane Library, the Wanfang Database and the China National Knowledge Infrastructure were searched. Randomized controlled trials were selected. The methodological quality of the included trials (...) was assessed using the modified Jadad method. RevMan 5.3 software was used for the data analysis. Fifteen trials were included in this study. Compared with the control group, the intervention group showed significant differences in overall expressive language development [standard mean differences, 0.46; 95% confidence interval, 0.12–0.80], mean length of utterances in a language sample, number of utterances in a language sample, parent reports of expressive phrase complexity, overall expressive vocabulary development and different words used in a language sample. However, language therapy did not show satisfactory long-term effects on DLD. Although language therapy is helpful in improving the performance of children with DLD, its long-term effect is unsatisfactory. (shrink)

There is robust evidence that women with eating disorders (EDs) display an attention bias (AB) for disorder-salient stimuli. Emerging data suggest that the presence of these biases may be due, in part, to neurological deficits, such as poor set shifting and weak central coherence. While some have argued that these biases function to predispose and/or act to maintain disordered eating behaviours, evidence supporting this view has rarely been examined. This report summarises and integrates the existing literature on AB in (...) EDs and other related psychiatric disorders to better understand its potential role in the development and maintenance of an ED. The domains reviewed include experimental data using the dot-probe and modified Stroop task and neurobiological findings on AB in women with EDs as well as the role of AB in current theoretical models. We conclude by proposing an integrated model on the role of AB in EDs and discuss treatment approaches aimed at modifying these biases. (shrink)

Immediately before the release of DSM-5, a group of psychiatric thought leaders published the results of field tests of DSM-5 diagnostic criteria. They characterized the interrater reliability for diagnosing major depressive disorder by two trained mental health practitioners as of “questionable agreement.” These field tests confirmed an open secret among psychiatrists that our current diagnostic criteria for diagnosing major depressive disorder are unreliable and neglect essential experiences of persons in depressive episodes. Alternative diagnostic criteria exist, but psychiatrists rarely encounter them, (...) forestalling the discipline’s epistemological crisis. In Alsadair MacIntyre’s classic essay, such crises occur in science when a person encounters a rival schemata that is incompatible with their current schemata and subsequently constructs a narrative that allows them to reconstruct their own tradition. In search of rival schemata that are in conversation with their own tradition, psychiatric practitioners can utilize alternative diagnostic criteria like the Cultural Formulation Interview, embrace an epistemologically humble psychiatry, and attend to the narrative experience of a person experiencing a depressive episode. (shrink)

Since the advent of the women's movement, women have made unprecedented gains in almost every field, from politics to the professions. Paradoxically, doctors and mental health professionals have also seen a staggering increase in the numbers of young women suffering from an epidemic of depression, eating disorders, and other physical and psychological problems. In The Cost of Competence, authors Brett Silverstein and Deborah Perlick argue that rather than simply labeling individual women as, say, anorexic or depressed, it is time (...) to look harder at the widespread prejudices within our society and child-rearing practices that lead thousands of young women to equate thinness with competence and success, and femininity with failure. They argue that continuing to treat depression, anxiety, anorexia and bulimia as separate disorders in young women can, in many cases, be a misguided approach since they are really part of a single syndrome. Furthermore, their fascinating research into the lives of forty prominent women from Elizabeth I to Eleanor Roosevelt show that these symptoms have been disrupting the lives of bright, ambitious women not for decades, but for centuries. Drawing on all the latest findings, rare historical research, cross-cultural comparisons, and their own study of over 2,000 contemporary women attending high schools and colleges, the authors present powerful new evidence to support the existence of a syndrome they call anxious somatic depression. Their investigation shows that the first symptoms usually surface in adolescence, most often in young women who aspire to excel academically and professionally. Many of the affected women grew up feeling that their parents valued sons over daughters. They identified intellectually with their successful fathers, not with their traditional homemaker mothers. Disordered eating is one way of rejecting the feminine bodies they perceive as barriers to achievement and recognition. Silverstein and Perlick uncover medical descriptions matching their diagnosis in Hippocratic texts from the fourth century B.C., in anthropological studies of Africa, Asia, and Latin America, and in case studies of many noted psychologists and psychiatrists, including the "hysteric" patients Freud used to develop his theories on psychoanalysis. They have also discovered that statistics on disordered eating, depression, and a host of other symptoms soared in eras in which women's opportunities grew--particularly the 1920s, when record numbers of women entered college and the workforce, the boyish silhouette of the flapper became the feminine ideal, and anorexia became epidemic, and again from the 1970s to the present day. The authors show that identifying this devastating syndrome is a first step toward its prevention and cure. The Cost of Competence presents an urgent message to parents, educators, policymakers, and the medical community on the crucial importance of providing young women with equal opportunity, and equal respect. (shrink)

Patients with bipolar disorder may experience family dysfunction, which might result in worse psychosocial functioning through environmental and psychological factors. Research investigating the mediating role of social support, resilience and suicidal ideation on family and psychosocial functioning in BD is rare. The study aims to explore the predicting and mediating effects of social support, resilience and suicidal ideation on family and psychosocial functioning in BD patients. Two hundred forty-six patients with BD and sixty-nine healthy controls were recruited. The Family (...) Assessment Device, Functioning Assessment Short Test, Social Support Rating Scale, Connor-Davidson Resilience Scale and Beck Scale for Suicide Ideation were used to assess family functioning, psychosocial functioning, social support, resilience and suicidal ideation, respectively. Bipolar patients exhibited worse family and psychosocial functioning than healthy controls. Family functioning, social support, resilience and suicidal ideation significantly predict psychosocial functioning in the bipolar group. Social support, resilience and suicidal ideation indirectly mediate the effect of family functioning on psychosocial functioning in bipolar patients. Cross-sectional design and mixed sample including acute and remitted stages. Treatments for patients with bipolar disorder should be combined with family strategies that are formulated to improve psychosocial functioning. An emphasis should be placed on enhancing social support and resilience while paying attention to suicidal ideation. (shrink)

A number of studies have demonstrated pragmatic language difficulties in people with Schizophrenia Spectrum and Other Psychotic Disorders. However, research about how people with schizophrenia spectrum and other psychotic disorders understand scalar implicatures is surprisingly rare, since SIs have generated much of the most recent literature. Scalar implicatures are pragmatic inferences, based on linguistic expressions like some, must, or, which are part of a scale of informativeness. Logically, the less informative expressions imply the more informative ones, but (...) pragmatically people usually infer that the presence of a less informative term implies that the more informative term was not applicable. In one of the few existing studies with people with schizophrenia spectrum and other psychotic disorders, Wampers et al. observed that in general, people with schizophrenia spectrum and other psychotic disorders were less likely to derive SIs than controls. The current study has three main aims. First, we want to replicate the original finding with the scalar terms some-all. Second, we want to investigate how these patients deal with different scalar terms, that is, we want to investigate if scalar diversity is also observed in this clinical group. Third, we investigate the role of working memory, often seen as another important mechanism to enable inferring SIs. Twenty-one individuals with a psychotic disorder and 21 matched controls answered 54 under-informative statements, in which seven different pairs of scalar terms were used. In addition, working memory capacity was measured. Patients with schizophrenia spectrum and other psychotic disorders did not make more logical interpretations when processing quantifiers, disconfirming Wampers et al.. However, certain scalar scales elicited more pragmatic interpretations than others, which is in line with the scalar diversity hypothesis. Additionally, we observed only partial evidence for the role of working memory. Only for the scalar scale and-or, a significant effect of working memory was observed. The implications of these results for patients with schizophrenia spectrum and other psychotic disorders are discussed, but also the role of working memory for pragmatic inferences, as well as the place of SIs in experimental pragmatics. (shrink)

Although euthanasia and assisted suicide in people with psychiatric disorders is relatively rare, the increasing incidence of EAS requests has given rise to public and political debate. This study aimed to explore support of the public and physicians for euthanasia and assisted suicide in people with psychiatric disorders and examine factors associated with acceptance and conceivability of performing EAS in these patients. A survey was distributed amongst a random sample of Dutch 2641 citizens and 3000 physicians. Acceptance (...) and conceivability of performing EAS, demographics, health status and professional characteristics were measured. Multivariable logistic regression analyses were performed. Of the general public 53% were of the opinion that people with psychiatric disorders should be eligible for EAS, 15% was opposed to this, and 32% remained neutral. Higher educational level, Dutch ethnicity, and higher urbanization level were associated with higher acceptability of EAS whilst a religious life stance and good health were associated with lower acceptability. The percentage of physicians who considered performing EAS in people with psychiatric disorders conceivable ranged between 20% amongst medical specialists and 47% amongst general practitioners. Having received EAS requests from psychiatric patients before was associated with considering performing EAS conceivable. Being female, religious, medical specialist, or psychiatrist were associated with lower conceivability. The majority of the psychiatrists were of the opinion that it is possible to establish whether a psychiatric patient’s suffering is unbearable and without prospect and whether the request is well-considered. The general public shows more support than opposition as to whether patients suffering from a psychiatric disorder should be eligible for EAS, even though one third of the respondents remained neutral. Physicians’ support depends on their specialization; 39% of psychiatrists considered performing EAS in psychiatric patients conceivable. The relatively low conceivability is possibly explained by psychiatric patients often not meeting the eligibility criteria. (shrink)

Plasma protein therapies are a group of essential medicines extracted from human plasma through processes of industrial scale fractionation. They are used primarily to treat a number of rare, chronic disorders ensuing from inherited or acquired deficiencies of a number of physiologically essential proteins. These disorders include hemophilia A and B, different immunodeficiencies and alpha 1-antitrypsin deficiency. In addition, acute blood loss, burns and sepsis are treated by PPTs. Hence, a population of vulnerable and very sick individuals (...) is dependent on these products. In addition, the continued well-being of large sections of the community, including pregnant women and their children, travelers and workers exposed to infectious risk is also subject to the availability of these therapies. Their manufacture to adequate amounts requires large volumes of human plasma as the starting material of a complex purification process. Mainstream blood transfusion services run primarily by the not-for-profit sector have attempted to provide this plasma through the separation of blood donations, but have failed to provide sufficient amounts to meet the clinical demand. The collection of plasma from donors willing to commit to the process of plasmapheresis, which is not only time consuming but requires a long term, continuing commitment, generates much higher amounts of plasma and has been an activity historically separate from the blood transfusion sector and run by commercial companies. These companies now supply two-thirds of the growing global need for these therapies, while the mainstream government-run blood sector continues to supply a shrinking proportion. The private sector plasmapheresis activity which provides the bulk of treatment products has been compensating the donors in order to recognize the time and effort required. Recent activities have reignited the debate regarding the ethical and medical aspects of such compensation. In this work, we review the landscape; assess the contributions made by the compensated and non-compensated sectors and synthesize the outcomes on the relevant patient communities of perturbing the current paradigm of compensated plasma donation. We conclude that the current era of “Patient Centeredness” in health care demands the continuation and extension of paid plasma donation. (shrink)

The major challenge in complex disease genetics is to understand the fundamental features of this complexity and why functional alterations at multiple independent genes conspire to lead to an abnormal phenotype. We hypothesize that the various genes involved are all functionally united through gene regulatory networks (GRN), and that mutant phenotypes arise from the consequent perturbation of one or more rate‐limiting steps that affect the function of the entire GRN. Understanding a complex phenotype thus entails unraveling the details of each (...) GRN, namely, the transcription factors that bind to cis regulatory elements affected by sequence variants altering transcription of specific genes, and their mutual feedback relationships. These GRNs can be identified through their rate‐limiting steps and are best uncovered by genomic analyses of rare, extreme phenotype families, thus providing a coherent molecular basis to complex traits and disorders. (shrink)

Musicians’ Focal Dystonia is a task-specific neurological movement disorder, affecting 1–2% of highly skilled musicians. The condition can impair motor function by creating involuntary movements, predominantly in the upper extremities or the embouchure. The pathophysiology of the disorder is not fully understood, and complete recovery is extremely rare. While most of the literature views the condition through a neurological lens, a handful of recent studies point out certain psychological traits and the presence of adverse playing-related experiences and preceding trauma (...) as possible contributors to the onset. The nature and the frequency of these factors, however, are under-researched. The present quasi-experimental study aimed to compare musicians with and without MFD in terms of the frequency of various adverse psychosocial and psychological factors to explore their contribution to the onset of the condition. Professional musicians with MFD and without MFD were recruited from online platforms, musicians’ unions, and organisations to fill out a survey. The survey was based on two previously conducted interview studies and included the Student-Instructor Relationship Scale, the Mistake Rumination Scale, the Trauma History Screen, and self-constructed questions about the received music education, early success, and personal experiences. To identify potential risk factors, independent samples t-tests were conducted and found that there are significant differences in musicians with and without MFD in terms of mistake rumination, early success, and the received music education. A logistic regression showed that six factors contributed to the construct to various extents; we observed a significant model [χ2 = 22.681, p < 0.001], which predicted 71.2% of the cases correctly. This exploratory study shows that psychological and psychosocial factors might play a role in the development of MFD. Understanding these in more detail could inform preventative strategies and complement the current therapeutic approaches to support this vulnerable population better. (shrink)

Impairments in emotional face processing are demonstrated by individuals with neurodevelopmental disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder, which is associated with altered emotion processing networks. Despite accumulating evidence of high rates of diagnostic overlap and shared symptoms between ASD and ADHD, functional connectivity underpinning emotion processing across these two neurodevelopmental disorders, compared to typical developing peers, has rarely been examined. The current study used magnetoencephalography to investigate whole-brain functional connectivity during the presentation of happy and angry (...) faces in 258 children, including ASD, ADHD and typically developing groups to determine possible differences in emotion processing. Data-driven clustering was also applied to determine whether the patterns of connectivity differed among diagnostic groups. We found reduced functional connectivity in the beta band in ASD compared to TD, and a further reduction in the ADHD group compared to the ASD and the TD groups, across emotions. A group-by-emotion interaction in the gamma frequency band was also observed. Greater connectivity to happy compared to angry faces was found in the ADHD and TD groups, while the opposite pattern was seen in ASD. Data-driven subgrouping identified two distinct subgroups: NDD-dominant and TD-dominant; these subgroups demonstrated emotion- and frequency-specific differences in connectivity. Atypicalities in specific brain networks were strongly correlated with the severity of diagnosis-specific symptoms. Functional connectivity strength in the beta network was negatively correlated with difficulties in attention; in the gamma network, functional connectivity strength to happy faces was positively correlated with adaptive behavioural functioning, but in contrast, negatively correlated to angry faces. Our findings establish atypical frequency- and emotion-specific patterns of functional connectivity between NDD and TD children. Data-driven clustering further highlights a high degree of comorbidity and symptom overlap between the ASD and ADHD children. (shrink)

The diagnosis of Functional Neurological Disorder (FND) requires differentiation from other neurologic diseases/syndromes, and from the comparatively rare diagnosis of feigning (Malingering and Factitious Disorder). Analyzing the process of diagnosing FND reveals a necessary element of presumption, which I propose underlies some of the uncertainty, discomfort, and stigma associated with this diagnosis. A conflict between the neurologist’s natural social cognition and professional judgement (cognitive dissonance) can be understood by applying a framework originally designed for the determination of moral responsibility. (...) Understanding the source of this cognitive dissonance may effect its alleviation, and in turn, allow more compassionate treatment of patients with FND. (shrink)

This book discusses how to deal ethically with people with Fetal Alcohol Spectrum Disorder in the police, courts and correctional services. Ethical and legal issues associated with the deficits of individuals with a brain disorders such as FASD are surfacing more and more frequently in criminal proceedings. People with FASD often have not been diagnosed and rarely exhibit any visible evidence of the disorder. It has been argued that this invisible disability puts them in a disadvantaged position in the (...) justice system, since the awareness of this condition is limited. The need to identify and to address FASD more effectively and the many ethical issues this raises within the context of the law is increasingly acknowledged within judicial and legislative branches, as well as in government departments, agencies and community programs that provide services to those with FASD and their caretakers and families. This is the first book to give to elaborate on ethical and legal issues of FASD. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Philosophy, Psychiatry, & Psychology 10.1 (2003) 25-27 [Access article in PDF] Gender, Body, Meaning:Anthropological Perspectives on Self-Injury and Borderline Personality Disorder Carolyn Sargent THE CENTRAL THEMES OF "Commodity Body/Sign: Borderline Personality Disorder and the Signification of Self-Injurious Behavior" reflect issues that cut across the disciplines represented by this journal and have received increasing attention from anthropologists. Medical anthropologists, as well as psychological anthropologists and others interested in symbolic analysis (...) of the body, have addressed such topics as the culture of biomedicine and the cultural shaping of psychiatric classification, the multiple meanings of body modifications, power relations in therapeutic interactions between doctor and patient, and cultural variation in understandings of normality and abnormality.Curiously, there is little anthropological literature that directly focuses on either borderline personality disorder (BPD) or self-injurious acts per se. Indeed anthropological research on psychiatric diagnosis, classification, and treatment, as well as ethnopsychiatry, include scant reference to personality disorders. One exception is Nuckolls' 1992 article, "Toward a Cultural History of the Personality Disorders," which raises pertinent questions for one of Potter's introductory statements—that the majority of those diagnosed with BPD are women. Nuckolls directly addresses gender ideology and gender roles in the United States in his comparison of antisocial personality and histrionic personality diagnoses. In his paper, he argues that these personality disorders have cultural histories and are strongly congruent with prevailing gender stereotypes, such that men are many times more likely to be diagnosed as antisocial than women and women much more likely to be diagnosed as histrionic (Nuckolls 1992, 37). He also historicizes the emergence of certain behavioral styles that have been seen as characteristic of women and men, and the evolution of psychiatric diagnoses that classify extreme manifestations of these behavioral styles.The issue of why women, rather than men, are more frequently diagnosed with BPD is not elaborated in Potter's article, although she notes the importance of considering the intersection of gender and "identifying behaviors" associated with BPD. Cultural analyses of gender ideology in the [End Page 25] United States might suggest that the connection involves gendered expectations concerning emotionality and relational context but these articulations remain intriguing and underexplored. One might speculate that BPD/self-injury occurs in the context of particular gender ideologies, perhaps in class-based, industrialized societies where the body is highly commodified. It appears that the history of this constellation of symptoms and behaviors remains to be written.Cultural analysis of self-injury, a theme that runs through Potter's article, tends to be embedded in the anthropological literature on body ornamentation, initiation rituals, and "culture-bound" syndromes. Mascia-Lees and Sharpe (1992, 1) describe the body as "a site of adornment, manipulation, and mutilation," practices with roots reaching back as far as 30,000 years, and include as examples head deformation, scarification, foot binding, tooth filing, lip plates, nose rings, tattoos, subincision, and genital cutting.However, the concept of self-injury, as Potter notes, is problematic in the discipline of anthropology given the significance historically accorded to cultural relativism. Correspondingly, body "modification" is not "self-injury" as long as it is socially normative, for example, a facet of an initiation ordeal or body ornamentation (e.g., circumcision, scarification, piercing). Among the rare examples of acts that seem readily identifiable as "self-injury" are New Guinea practices of cutting off a finger to demonstrate mourning and Baatombu (West African) male finger amputation to show grief and anger over a wife's infidelity. Both are, however, considered culturally legitimate and not indicative of pathology.Potter's argument draws heavily on the notion of "body as text," derived largely from literary theory and feminist philosophy (Butler 1990; Jaggar and Bordo 1989). The perspective of "body as text" has influenced anthropological theory over the past two decades, particularly in the interpretive and postmodernist schools of thought. The body as a text of femininity is aptly characterized by Bordo, who argues that the continuum between female disorder and normal femininity is revealed by means of an analysis of symbolic meaning of gender in... (shrink)

Deep brain stimulation is part of state-of-the-art treatment for medically refractory Parkinson’s disease, essential tremor or primary dystonia. However, there are multiple movement disorders that present after a static brain lesion and that are frequently refractory to medical treatment. Using Holmes tremor as an example, we discuss the effectiveness of currently available treatments and, performing simulations using a Markov Chain approach, propose that DBS with iterative parameter optimization is expected to be more effective than an approach based on sequential (...) trials of pharmacological agents. Since, in DBS studies for HT, the thalamus is a frequently chosen target, using data from previous studies of lesion connectivity mapping in HT, we compared the connectivity of thalamic and non-thalamic targets with a proxy of the HT network, and found a significantly higher connectivity of thalamic DBS targets in HT. The understanding of brain networks provided by analysis of functional connectivity may thus provide an informed framework for proper surgical targeting of individual patients. Based on these findings, we argue that there is an ethical imperative to at least consider surgical options in patients with uncommon movement disorders, while simultaneously providing consistent information regarding the expected effectiveness and risks, even in a scenario of surgical-risk aversion. An approach based on n-of-1 DBS trials may ultimately significantly improve outcomes while informing on optimal therapeutic targets and parameter settings for HT and other disabling and rare movement disorders. (shrink)

Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discuss the ethical and economic considerations, regarding both direct and indirect costs, of a high-cost orphan disease in a marginalised minority population in a developing country.

BackgroundThe aim of this study is to compare depression and loneliness among adult siblings of people on the autism spectrum, adult siblings of normotypic individuals, and adults raised alone. In recent years, an increasing interest in the perspective of siblings of children diagnosed with autism has been observed, with studies among this population particularly concerned with the developmental trajectories of children and adolescents at “high risk” for ASD, rarely focusing on their mental well-being.MethodsThe respondents filled out: the survey on sociodemographic (...) data designed by the authors, Beck Depression Inventory II, and De Jong Gierveld Loneliness Scale.ResultsA rise in BDI and an increase in the DJGLS score were predicted by having a sibling diagnosed with ASD. Those effects were independent of subjects’ sex, educational status, place of residence, or a number of siblings.ConclusionThe results underline a fundamental need for the development of mental hygiene programs for families where children with autism spectrum are accompanied by healthy siblings. (shrink)

Fahr’s disease is a rare idiopathic degenerative disease characterized by calcifications in the brain, and has also been associated with balance impairment. However, a detailed analysis of balance in these patients has not been performed. A 69-year-old woman with Fahr’s disease presented with a long-lasting subjective imbalance. Balance was analyzed using both clinical and instrumented tests. The patient’s balance was normal during clinical tests and walking. However, during standing, a striking impairment in vestibular control of balance emerged. The balance (...) behavior displayed mixed parkinsonian and cerebellar features, with a discrepancy between the high severity of the static and the low severity of the dynamic balance impairment. The balance impairment characteristics outlined in this study could help neurologists and physiatrists detect, stage, and treat this rare condition. (shrink)