Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Psychoanalysis and empirical research

At the beginning of the nineteenth century, the idea of reason began to lose its universal and absolute value, undermining the view of science as a form of objective knowledge that reveals a fundamental reality. These changes have also had an impact on psychoanalysis, leading to a proliferation of theories and the end of a positivistic approach, epitomized by a 'neutral' analyst who knows the contents of the patient's mind. Hermeneutic philosophy provides a tool with which to explore both theoretical multiplicity and the contribution of the analyst's subjectivity to the analytic process. Furthermore, a hermeneutic approach does not have to be hostile to empirical science, but can be integrated with it in a 'scientific-hermeneutic model' in which historical and biological principles are given equal value.     

Equivalence relations in individuals with language limitations and mental retardation

The study of equivalence relations exhibited by individuals with mental retardation and language limitations holds the promise of providing information of both theoretical and practical significance. We reviewed the equivalence literature with this population, defined in terms of subjects having moderate, severe, or profound mental retardation. The literature includes 55 such individuals, most of whom showed positive outcomes on equivalence tests. The results to date suggest that naming skills are not necessary for positive equivalence test outcomes. Thus far, however, relatively few subjects with minimal language have been studied. Moreover, we suggest that the scientific contributions of studies in this area would be enhanced with better documentation of language skills and other subject characteristics. With recent advances in laboratory procedures for establishing the baseline performances necessary for equivalence tests, this research area is poised for rapid growth.     

Comorbidity between and within childhood externalizing and internalizing disorders: reflections and directions

The term and concept of lcomorbidity has been mired in controversy, although there is little question that the existence of covariation among psychiatric diagnoses poses significant challenges to current models of psychiatric classification and diagnosis. The papers in this Special Section underscore a number of important issues relevant to the comorbidity between and within childhood externalizing and internalizing disorders, and illustrate both methodological and substantive reasons for such comorbidity. Weiss, Susser, and Catron's distinction among common, broad-band specific, and narrow-band specific features provides a helpful framework for understanding the comorbidity of childhood externalizing and internalizing disorders (B, Weiss, K. Susser, & T. Catron, 1998). Hierarchical models of psychopathology help to dissolve the distinction between splitters and lumpers and point to variables that may elucidate the etiology of externalizing and internalizing disorders.     

Embodied Knowledge and Making Sense of Prenatal Diagnosis

Open-ended, qualitative interviews with women to whom amniocentesis was offered were analyzed to understand how women made sense of these tests. We found that women, whether tested or not, negotiated with biomedical information. They transformed it through identifiable processes, then wove it with their own instincts and beliefs and with their personal experiences, thereby creating embodied knowledge on which their decisions were based. Women who were and were not tested may have differed from each other when categorized on the basis of a final, binary choice, but they were more alike than unalike in reaching this point. The apparent importance of embodied knowledge suggests the critical role of the listening activities of the genetic counselor and of awareness of the validity and importance of women's complementary ways of knowing and doing in understanding the uses and meanings of prenatal genetic testing.     

Mind,brain and body. Healing trauma: the way forward

The paper explores an interdisciplinary whole person approach to healing from trauma that conserves our rich inheritance from Jung but also takes on board insights from research in the areas of attachment, trauma and the neurobiology of emotion. It is now over 20 years since insights from neurobiology began to be used to inform clinical practice. The paper reviews key insights which have emerged, along with the ways they enable therapists to help mind, brain and body to heal and the ways in which they clarify why, in clinical practice, we do what we do. Traditionally the emphasis has been on words, interpretations, and meaning‐making. Currently there is greater appreciation of the affective, relational, embodied aspects of therapeutic work and the way in which these relate to traumatic early interactive experience that is held outside of human awareness. The ways in which knowledge of particular systems of connectivity inform understanding of the whole mind‐brain‐body relationship are examined. The way forward for clinical practice to become more focused in order to help clients to heal in mind and body is reviewed.     

关系复杂性对关系类别间接性学习中选择性注意的影响

以大学生为被试,使用关系复杂性逐渐变化的实验材料——4特征复杂关系的虚拟外星生物、6特征复杂关系加二阶同功能简单关系的虚拟外星生物和6特征复杂关系加二阶异功能简单关系的虚拟外星生物,采用类别的间接性学习范式——个人功能预测的关系类别的间接性学习条件和参照性交流的关系类别的间接性学习条件,通过三个实验任务（功能预测、自由分类和维度选择）,探讨材料关系复杂性对关系类别间接性学习中选择性注意的影响。结果发现：随着关系复杂性的逐渐增高,被试的选择性注意水平不存在显著差异,但选择性注意的指向性存在极其显著差异,选择性注意的集中性（对无关维度的抑制）不存在显著差异;参照条件下被试选择性注意水平极其显著地高于个人条件,这种差异主要表现在选择性注意的指向性方面,而不表现在选择性注意的集中性（对无关维度的抑制）方面。     

Issues in diagnosing anxiety disorders

Research progress in the anxiety disorders is predicated on a useful classification system. In this paper, we review the reliability and validity data for theDiagnostic and Statistical Manual of Mental Disorders, 3rd ed. (DSM-III) anxiety disorders and discuss the salient issues associated with both the conceptualization of anxiety disorders and the diagnostic criteria offered in the DSM-III. It is concluded that the diagnostic reliability for these disorders is, overall, satisfactory. A dearth of validity data, however, hinders progress in both the diagnosis and the treatment of the anxiety disorders. Nevertheless, the DSM-III work group has proposed several changes in the diagnostic criteria for the anxiety disorders. We find some of these proposed changes helpful in that they clarify current diagnostic criteria; changes in diagnostic criteria that alter the basic classification schema, however, seem to be premature.Preparation of this paper was supported in part by MIMH Research Grant 1368.On sabbatical leave from Indiana State University.     

DC:0–5: DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD

The significant growth in the clinical literature on early childhood psychopathologysince the publication of the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Zero to Three–Revised (DC:0–3R; ZERO TO THREE) in 2005 necessitated substantial revisions to the manual, which resulted in the publication of the DC:0–5: Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Zero to Five (ZERO TO THREE) in 2016. In addition to the decision to extend the early childhood diagnoses to include children through age 5 years, significant revisions were made to many diagnoses, and new diagnostic categories were added such as the Relationship Specific Disorder of Infancy/Early Childhood. Other additions, such as guidance for the development of a Cultural Formulation for the young child and his or her family and the inclusion of functional impairment criteria also contribute to making the DC: 0–5a substantially more comprehensive and robust diagnostic framework than its predecessor.