内表型方法在精神疾病研究中的应用

精神疾病在很大程度上受到遗传的影响,而对疾病的遗传学研究却没有得到一致的结论,内表型正是在这一背景下提出。内表型是可以通过生化测试或显微镜检查发现的内在的表现型,即内表型不是很明显的、外在的而是微观的、内在的,内表型比疾病的外在表现更接近疾病的生物学基础,更少受到外在因素的影响,因而通过内表型来研究疾病的遗传基因有着显著的优势。现有的精神疾病诊断和分类标准都是以临床症状和行为描述为基础的,缺少生物学基础,基于内表型的分析对建立疾病的诊断和分类的生物学基础是非常重要的。内表型可以是神经生理的,生物化学的,神经解剖的,认知的,神经心理学的测量。作为内表型需要满足与疾病共同存在,可遗传,状态独立,在家庭中和疾病共分离,在病人未发病亲属中比一般人群的比率要高等标准。该文在介绍了内表型的概念,说明了内表型的原理,优点与用处,以及作为内表型需要满足的标准之后,进而以几种常见的精神疾病（多动症、精神分裂症、抑郁症）为例说明了目前认知内表型研究的进展,其中反应抑制和工作记忆可以作为多动症的内表型,注意、言语记忆和工作记忆可以作为精神分裂症和抑郁症的内表型,文章回顾了它们作为内表型所满足的标准的相关文献。最后对内表型的研究做出了展望     

Dual diagnosis in an Australian forensic psychiatric hospital: prevalence and implications for services

Despite a growing awareness of the unique needs of psychiatric patients with co-occurring substance abuse and dependence disorders (i.e. dual diagnosis), there is a dearth of research investigating the prevalence of dual diagnosis in forensic psychiatric populations. Similarly, little work has been done to determine the implications of dual diagnosis for forensic psychiatric patients. Patients at the Thomas Embling Hospital in Victoria, Australia, were assessed to determine the prevalence of substance abuse disorders and mental illnesses within this population. Results reveal that the majority of patients (approximately 74%) have a lifetime substance abuse or dependence disorder. Information was collected concerning patients' criminal histories and the Level of Service Inventory, Revised, was completed for each patient who participated. Results suggest that patients with both major mental illnesses and substance abuse disorders have more extensive criminal histories and demonstrate a higher level of risks and needs when compared with patients with major mental illness alone. The implications for the development and delivery of effective forensic mental health services that address both co-occurring disorders are also discussed.     

The synergy of working memory and inhibitory control: behavioral, pharmacological and neural functional evidences

Concomitant deficits in working memory and behavioral inhibition in several psychiatric disorders like attention-deficit/hyperactivity disorder, addiction or mania, suggest that common brain mechanisms may underlie their etiologies. Based on the theoretical assumption that a continuum exists between health and mental disorders, we explored the relationship between working memory and inhibition in healthy individuals, through spontaneous inter individual differences in behavior, and tested the hypothesis of a functional link through the fronto-striatal dopaminergic system. Rats were classified into three groups, showing good, intermediate and poor working memory and were compared for their inhibitory abilities. These two functions were simultaneously modulated by a dose-effect of d-amphetamine and in situ hybridization was used to quantify dopaminergic receptor (RD1) mRNAs in prefrontal cortex and striatal areas. A functional relationship between working memory and inhibition abilities was revealed. Both functions were similarly modulated by d-amphetamine according to an inverted-U shaped relationship and depending on initial individual performances. D-amphetamine selectively improved working memory and inhibition of poor and intermediate performers at low doses whereas it impaired both processes in good performers at a higher dose. D1 receptors were less expressed in prelimbic, infralimbic and anterior cingulate cortices of good compared to intermediate and poor performers, whereas no difference was observed between groups in striatal areas. The synergy of working memory and inhibitory abilities, observed in both healthy and psychiatric populations, may originate from endogenous variability in dopaminergic prefrontal cortex activity. Such findings confirm the validity of a dimensional approach, based on the concept of continuity between health and mental disorders for identifying endophenotypes of mental disorders.     

Determination of emotional endophenotypes: a validation of the Affective Neuroscience Personality Scales and further perspectives

The study of endophenotypes, notably with configured self-reports, represents a promising research pathway to overcome the limits of a syndromal approach of psychiatric diseases. The Affective Neuroscience Personality Scales (ANPS) is a self-report questionnaire, based on neuroethological considerations, that could help to assess emotional endophenotypes related to the activity in 6 core cerebral emotional systems (FEAR, ANGER, SADNESS, CARING, PLAYFULNESS, SEEKING). We further investigated its psychometric properties among 830 young adults and showed that they were satisfactory. As participants also completed several other self-reports that shared potential traits with the ANPS, we offer new validity evidence based on relations to other variables. We also provide additional evidence to consider that the ANPS scores can be validly interpreted for the characterization of emotional endophenotypes involved in a variety of psychiatric disorders. On the grounds of present results, of previous clinical studies, as well as some preliminary neuroimaging findings, we discuss new steps in the ANPS validation.     

Cultural variations in the understanding and treatment of psychiatric disorders: India and England

Although much has been made of the nation of cultural specificity of mental illness, this paper argues that mental illness is a universal human experience. However, the types of disorders, the incidence and the severity of disorders may vary markedly across cultures. To understand mental illness and identify it across cultures, it is necessary to examine the problem against the backdrop of the dominant value systems which prevail in any culture at a given point in time. There are salient value systems to which most cultures subscribe, which in turn influence our understanding, diagnosis and treatment of mental illness and consequently the allocation of resources and the provision of care within the community. The different valueorientations between Western and Eastern cultures have a strong bearing on the problems of diagnosis and on the treatment of mental disorders, which in many instances are the outgrowth of the available resources and the acceptance of traditional arrangements unique to each culture.     

兰恩存在精神病学的心理治疗观

兰恩是20世纪英国著名的存在主义精神病学家,在反对传统精神病学诊疗观的基础上,提出了独特的存在精神病学的心理治疗观。在精神疾病的诊断上,兰恩主张从存在主义——现象学的视角来理解精神疾病,要从一个人的环境或背景中来理解他的行为。在精神疾病的心理治疗上,兰恩强调通过改变患者的生存环境来促进其自我恢复。     

An examination of the effects of mental disorders as mitigating factors on capital sentencing outcomes

Mentally ill and emotionally disturbed offenders comprise a significant component of those whose criminal conduct has swept them into the criminal justice system, including a subset who are tried and convicted of capital murder. The present study employs the population of capital cases advanced to penalty phase in the state of North Carolina (1990–2009) to examine whether presentation to the jury of the statutory mitigators of extreme mental and emotional disturbance and capacity impaired, and specific mental illness diagnoses, often referred to as mental disorders, at the sentencing phase mitigate against a sentence of death. Mental disorders included mood disorders, psychotic disorders, anxiety disorders, brain disorders, multiple mental illness diagnoses, learning disabilities, and personality disorders. Results from these 835 cases indicate that with the exception of one, the diagnosis of a learning disability, the capital jury's acceptance of various mental health conditions does not effectively mitigate against a capital sentence. In addition, jury rejection of a diagnosis of mental illness or the two mental health statutory mitigators, capacity impaired and extreme emotional disturbance, as a mitigating factor has a counter-mitigating effect in that it significantly increases the odds of a death penalty recommendation by about 85–200%.     

A psychobiographical analysis of Brian Douglas Wilson: Creativity, drugs, and models of schizophrenic and affective disorders

The suggestion of a relationship between creativity and mental disorder has existed for centuries, and has been advocated by many psychological researchers. The present analysis offers a consideration of the nature of mental disorder present in Brian Wilson, an individual recognised as one of the most creative figures in 20th century popular music. Using converging biographical evidence, and the diagnostic program Opcrit, Wilson’s diagnosis is concluded to be schizoaffective. Employing details of his drug abuse, various models of schizoaffective spectra are examined, in particular a reconsideration of the LSD model of schizophrenia. The model is shown to be useful for positive schizophrenic symptoms including overinclusion, a potentially key element of creativity. In doing so, this psychobiographical analysis allows examination of potential relationships between mental disorder and creativity, the effects of various narcotics on creativity and various elements of mental disorder, the efficacy of various drug models of psychotic disorders, and the overlap between psychotic and affective disorders.     

Prisoners’ competence to die: hunger strike and cognitive competence

Several bioethicists have recently advocated the force-feeding of prisoners, based on the assumption that prisoners have reduced or no autonomy. This assumed lack of autonomy follows from a decrease in cognitive competence, which, in turn, supposedly derives from imprisonment and/or being on hunger strike. In brief, causal links are made between imprisonment or voluntary total fasting (VTF) and mental disorders and between mental disorders and lack of cognitive competence. I engage the bioethicists that support force-feeding by severing both of these causal links. Specifically, I refute the claims that VTF automatically and necessarily causes mental disorders such as depression, and that these mental disorders necessarily or commonly entail cognitive impairment. Instead, I critically review more nuanced approaches to assessing mental competence in hunger strikes, urging that a diagnosis of incompetence be made on a case-by-case basis—a position that is widely shared by the medical community.     

Child and adolescent development: common mental disorders according to age and gender

Despite the increase in the incidence and prevalence rates of children and adolescents' mental disorders, there are few works performed with large and representative samples of children and adolescents with psychopathological symptoms. The present work analyses 588 participants referred by first care pediatricians to a specialized unit for children and adolescents' mental health. As a result of the study, a statistically significant relation was found between age and diagnosis: a larger incidence of behavioral disorders, communication disorders, elimination disorders, pervasive developmental disorders, impulse-control disorders from 0 to 5 years; behavioral disorders and attention deficit hyperactivity disorder (ADHD) were more common from 6 to 11 years, behavioral and anxiety disorders were more likely at 12 to 15 years; and, lastly, behavioral disorders were more prevalent from 16 to 18 years. With respect to gender, there was a significant relationship with diagnosis: boys had more behavioral disorders, whereas girl had more anxiety disorders. To conclude, a relationship between mental disorders and developmental achievements could be indicated in the younger group. Additionally, externalizing disorders in boys and internalizing ones n girls were more prevalent across all ages.     

Assessment and Treatment of the Schizotypal Personality Disorder

The Schizotypal Personality Disorder, first appearing as a DSM diagnosis in 1980, is not well understood by social workers and mental health rofessionals in general. Because relatively little has been written a out the disorder, it may be underdiagnosed. Social workers need to be alert to its dynamics, however, as it calls , for a treatment approach different from that of other personality disorders and schizophrenic disorders. Schizotypal clients are rigid and difficult to treat, but when properly identified can be helpful to make a better adjustment to their environments. Long-term, relationship oriented treatment is the intervention most effective with these clients.     

The involvement of epigenetic defects in mental retardation

Mental retardation is a group of cognitive disorders with a significant worldwide prevalence rate. This high rate, together with the considerable familial and societal burden resulting from these disorders, makes it an important focus for prevention and intervention. While the diseases associated with mental retardation are diverse, a significant number are linked with disruptions in epigenetic mechanisms, mainly due to loss-of-function mutations in genes that are key components of the epigenetic machinery. Additionally, several disorders classed as imprinting syndromes are associated with mental retardation. This review will discuss the epigenetic abnormalities associated with mental retardation, and will highlight their importance for diagnosis, treatment, and prevention of these disorders.     

Preliminary examination of the psychometric properties of the Psychiatric Scepticism Scale

Despite much commentary on "psychiatric skepticism", there remains a dearth of appropriate psychometric scales for the measurement of this concept. To overcome this limitation, the present study examined the psychometric properties and correlates of the recently developed Psychiatric Scepticism Scale (PSS). A total of 564 individuals from the community in London, England, completed the PSS along with measures of anti-scientific attitudes, attitudes to authority, knowledge of mental health disorders, and demographics. Results showed that the PSS has a one-dimensional factor structure with very good internal consistency. In addition, it showed adequate convergent (anti-scientific attitudes, knowledge of mental health disorders) and construct validity (attitudes to authority, religiosity). Results also showed that there were small but significant differences in psychiatric skepticism by ethnicity and education, but not sex or previous diagnosis of mental health disorder. These results confirm that the PSS has adequate psychometric properties for the measurement of psychiatric skepticism.     

精神分裂症遗传学内表型研究的启示

精神分裂症是一种常见的重性精神障碍,属于复杂的多基因遗传性疾病。随着分子生物学技术和遗传学数据分析方法的进步,精神分裂症易感基因方面的研究取得了一定的进展,但是至今还没有一个精神分裂症的易感基因得到准确定位。近年来精神分裂症的遗传学研究中越来越多地引入了内表型概念,而旨在阐明不同的基因变异引起精神疾病的相应功能障碍的内表型研究将为分裂症的诊断和治疗提供了较为客观的生物学指标,也对该复杂疾病的病因学、诊断和治疗学产生重要影响。     

Genetic factors and neurocognitive traits

Genetic contributions to phenotypic variation in general intelligence have been studied extensively. Less research has been conducted on genetic contributions to specific cognitive abilities, such as attention, memory, working memory, language, and motor functions. However, the existing data indicate a significant role of genetic factors in these abilities. Stages of information processing, such as sensory gating, early sensory registration, and cognitive analysis, also show evidence of genetic contributions. Recent molecular studies have begun to identify candidate genes for specific cognitive functions. Future research, identifying endophenotypes based on cognitive profiles of neuropsychiatric disorders, may also assist in the detection of genes that increase susceptibility to major psychiatric disorders.     

Performance of the CJDATS Co-Occurring Disorders Screening Instruments (CODSIs) among minority offenders

Previous research has shown the performance of the CJDATS Co-Occurring Disorders Screening Instruments (CODSI-MD and SMD)--six- and three-item instruments to screen for any mental disorder (CODSI-MD) and for severe mental disorders (CODSI-SMD), respectively--to be comparable or superior to other, longer instruments. This study tested the stability of the performance of the CODSI-MD and SMD across three racial/ethnic groups of offenders entering prison substance abuse treatment programs (n = 353), consisting of 96 African American, 120 Latino, and 137 White admissions. The Structured Clinical Interview (SCID) was used to obtain DSM-IV Axis I and II diagnoses; a lifetime SCID diagnosis of a mental disorder or a severe mental disorder was the criterion against which the CODSI-MD and SMD were validated. Results showed no statistical differences in sensitivity or specificity for either the CODSI-MD or SMD across the African American, Latino, and White prisoner groups. The value of the CODSI-MD and SMD as brief screens for mental disorders among offenders with diverse racial/ethnic backgrounds is discussed.     

False positives in psychiatric diagnosis: implications for human freedom

Current symptom-based DSM and ICD diagnostic criteria for mental disorders are prone to yielding false positives because they ignore the context of symptoms. This is often seen as a benign flaw because problems of living and emotional suffering, even if not true disorders, may benefit from support and treatment. However, diagnosis of a disorder in our society has many ramifications not only for treatment choice but for broader social reactions to the diagnosed individual. In particular, mental disorders impose a sick role on individuals and place a burden upon them to change; thus, disorders decrease the level of respect and acceptance generally accorded to those with even annoying normal variations in traits and features. Thus, minimizing false positives is important to a pluralistic society. The harmful dysfunction analysis of disorder is used to diagnose the sources of likely false positives, and propose potential remedies to the current weaknesses in the validity of diagnostic criteria.