Genetics in schizophrenia: where are we and what next?

Understanding the genetic basis of schizophrenia continues to be major challenge. The research done during the last two decades has provided several candidate genes which unfortunately have not been consistently replicated across or within a population. The recent genome-wide association studies (GWAS) and copy number variation (CNV) studies have provided important evidence suggesting a role of both common and rare large CNVs in schizophrenia genesis. The burden of rare copy number variations appears to be increased in schizophrenia patients. A consistent observation among the GWAS studies is the association with schizophrenia of genetic markers in the major histocompatibility complex (6p22.1)-containing genes including NOTCH4 and histone protein loci. Molecular genetic studies are also demonstrating that there is more overlap between the susceptibility genes for schizophrenia and bipolar disorder than previously suspected. In this review we summarize the major findings of the past decade and suggest areas of future research.     

Sexuality and mental health: Issues and what next?

Abstract

Human sexuality plays a major role in an individual's existence and functioning. In addition, rightly or wrongly sexuality often defines people and also affects social attitudes. These attitudes, if negative, can contribute to stigma and prevent people from help seeking if they are suffering from mental health problems. Recent changes in policy towards same-sex relationships have been positive in many countries including the UK and the USA, whereas in others such as Russia and Uganda attitudes have become more negative and punitive. Sexual activity is seen as having both pleasurable and procreational functions which contribute to society's attitudes to homosexual behaviour. Inevitably, individual responses to their own sexuality and sexual behaviour will be influenced by social attitudes. To ensure that those with various sexual variations can access psychiatric services without discrimination, various levels of interventions are needed. Here we discuss different levels of intervention and organizational change that may make it possible. Social organization and institutional organization of services need to be sensitive, especially as rates of many mental disorders are high in individuals who may be sexually variant. Those providing services need to understand their own negative attitudes as well as prejudices to ensure that services are emotionally accessible.     

Epilepsy stigma: what do we know and where next?

Stigma is a major issue for people who develop epilepsy. Reducing stigma is a major focus of activity for the epilepsy patient support groups globally. In this paper, we introduce some key ideas and debates about the nature of and drivers for the stigma of epilepsy, including recent arguments about the need to frame analyses of the nature of epilepsy stigma within sociological debates about conflict and power. We then consider the role of the legislative process for redressing power imbalances that promote or maintain epilepsy stigma; and the value of tailored educational campaigns and programmes directed at stigma reduction. Finally, we consider the nature of ‘difference’ as experienced by people with epilepsy and how that difference translates into stigma; and provide evidence from a specific targeted intervention to combat epilepsy stigma that its reduction is an achievable goal.     

Antithrombotic and hypofibrinogenetic therapy in acute ischemic stroke: what is the next step?

A thrombus occluding a brain artery is the leading mechanism underlying ischemic stroke. In the light of this pathophysiology, antithrombotic therapies have been among the most widely studied and used in the management of patients with ischemic stroke. Aspirin has a significant but modest benefit by reducing recurrent ischemic stroke and death given within 48 h of stroke onset. The use of anticoagulants including heparin, low molecular weight heparin, and heparinoids has not been supported by results of randomized clinical trials. Any reductions in ischemic stroke recurrence were offset by an increase in major bleeding. However, acute anticoagulation is widely used in specific disorders, including patients with high-risk cardiac sources of embolus, arterial dissection, venous sinus thrombosis, and hypercoagulable states. Early recurrent ischemic strokes in patients with atrial fibrillation and acute ischemic stroke have not been shown to be reduced with the heparins, when the effects of major bleeding and hemorrhagic worsening are considered. Recent clinical trials have suggested that other antithrombotic agents may be beneficial in acute ischemic stroke. Two such agents are ancrod and abciximab. Abciximab is currently being investigated in a large randomized clinical trial.     

Basic research and model systems in familial dysautonomia: What do we know and what’s next?

Clinical Autonomic Research -     

Evidence-based prevention practice in mental health: what is it and how do we get there?

A substantial number of children in the United States suffer from mental health problems. These children enter into adulthood at a disadvantage and often continue to experience mental health problems as adults. Historically, much less attention has been paid to prevention of mental health problems than to treatment and rehabilitative services. In recent years, however, great strides have been made in developing and evaluating prevention interventions in the area of mental health. Nevertheless, the study of prevention still lags behind clinical treatment research in identifying and disseminating effective programs and interventions. The following article draws on the work of numerous prevention scholars to develop a conceptual framework of evidence-based prevention practice in the area of mental health. Suggestions for how researchers, policy makers, and service providers can contribute to the development of evidence-based prevention practice in mental health are considered.     

Innovations: psychotherapy: what creates and sustains commitment to the practice of psychotherapy?

Qualitative methods were used to identify characteristics of "passionately committed psychotherapists" (experienced psychotherapists who would describe themselves as having found the vocation that suits them better than any other) identified by peers in the Utah public mental health system. Six themes were identified by all 15 interviewees: balance between work and nonwork passions, adaptiveness and openness, transcendence (the belief that the practice of psychotherapy has extraordinary significance), intentional learning, personal fit with the role, and passion-supporting beliefs. These are characteristics that psychotherapists should nurture in themselves, that program supervisors should seek in potential employees, and that training programs should develop in trainees.     

Ischemic stroke and migraine in childhood: coincidence or causal relation?

Although migraine is an accepted cause of cerebral infarction in adults, this association is less well recognized in children. We present two children with migraine and cerebral infarction, which we regard as migrainous stroke, though neither patient fulfills all criteria of the International Headache Society for the diagnosis of migrainous infarction. Review of the literature concerning examples of migraine-associated stroke in childhood suggests that these criteria are too restrictive to comprise the majority of migrainous strokes, especially in this age group.     

Defining learning disability: what place does intelligence testing have now?

In summary, therefore, when we endeavour to make any statements on the presence and/or degree of learning disability in children, we need to consider carefully how we define our population. Intelligence testing, or some similar psychometric procedures should be available, but with two substantial caveats. First, the results of the tests must be taken in the context of the respective test situations, and any relevant wider child/environmental factors. In practice, where testing is carried out by a chartered psychologist according to standard protocols, these considerations are dealt with, and will be cited in the commentary on the test results. Second, intelligence testing, while helpful, is not sufficient of itself for definition. There must be evidence for early onset in the developmental period. Here, it is surprising in clinical practice how often the evidence is far from clear; population migration and resultant variations in practice and documentation are contributory factors here. However, all indications are that evidence of early onset may become even more important in the near future, in the face of these latter secular trends. In addition to intelligence testing, therefore, some measure of social functioning should be made, such as a Vineland assessment. It should be noted, however, that many of the same provisos that apply to intelligence testing apply here. While the combination of the two is quite robust, just as intelligence assessment alone is insufficient, the same applies to assessment of social functioning. Furthermore, the complexities of definition by service received, for example by school attended, must be considered carefully. To ignore a child's reception into special education is to miss important information, whether in terms of the preceding background factors or the resultant impact of experience at the school. But to identify or classify a child according to type of special education received, and to then go on to make prognostic statements on that basis, is far from satisfactory. Finally, there is a need to be clear about what is meant by defining learning disability. Social context and obstacles to integration may in a sense 'define' the individual's situation. But an operationalized definition of learning disabity, including the consideration of intelligence, remains vital.     

Age of onset for stroke delayed in the 21st century: what is next?

Worldwide stroke incidence seems to decrease in high income countries but to largely increase in low and middle countries. The mean age of stroke onset also seems to be gradually increasing in many developed countries, which is consistent with the third epidemiological transition in the world, being characterized by a delay in age at onset of chronic disease. This review in neurological progress provides an overview of mean age at onset of stroke from worldwide stoke incidence studies and has noted that a lack of incidence studies presenting mean age of stroke onset over years from the developing world may result in a delay of prevention strategies for its people's well-being at the population level in the 21st century.     

Research issues for minority dementia patients and their caregivers: what are the gaps in our knowledge base?

This article highlights the current state of dementia research in ethnic minority populations. Studies are sparse, and an increased effort to recruit and retain minorities for dementia studies is required to properly treat and serve these families. An examination of research in the areas of minority caregiver issues (service needs, service use, affiliation with a support group) and patient evaluation is provided.