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.     

Differential fan effect and attentional focus

As people study more facts about a concept, it takes longer to retrieve a particular fact about that concept. This fan effect (Anderson, 1974) has been attributed to competition among associations to a concept. Alternatively, the mental-model theory (Radvansky & Zacks, 1991) suggests that the fan effect disappears when the related concepts are organized into a single mental model. In the present study, attentional focus was manipulated to affect the mental model to be constructed. One group of participants focused on the person dimension of personlocation pairs, whereas the other group focused on the location dimension. The result showed that the fan effect with the focused dimension was greater than the fan effect with the nonfocused dimension, which is contrary to the mental-model theory. The number of associations with a concept is indeed crucial during retrieval, and the importance of the information seems to be accentuated with attentional focus.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

The formation of the therapeutic alliance in couple therapy

This study examines the predictive validity of several clinical variables--including marital distress, individual symptomatology, and family-of-origin experiences--on the formation of the alliance in couple therapy. Eighty people who were treated with a naturalistic course of integrative conjoint psychotherapy at a large midwestern outpatient clinic were assessed on the clinical variables before session 1. They also completed ratings of the therapeutic alliance after sessions 1 and 8. Individual symptomatology did not predict alliance formation at either treatment stage. Higher levels of marital distress predicted poorer alliances to treatment between partners at session 1. Marital distress also predicted therapeutic alliance quality for men and women at session 8. Family-of-origin distress predicted alliance quality for men at session 1, and for women at session 8. Family-of-origin distress for men and women predicted split alliances early in treatment, and marital distress predicted split alliances for women at session 8. Clinical implications for the assessment and treatment of couples are discussed.     

Borderline psychopathology in the first-degree relatives of borderline and axis II comparison probands

The purpose of this study was to assess the prevalence of each of the nine DSM criteria for borderline personality disorder and the prevalence of the disorder itself in the first-degree relatives of borderline probands and Axis II comparison subjects. Four hundred and forty-five inpatients were interviewed about familial borderline psychopathology using the Revised Family History Questionnaire--a semistructured interview of demonstrated reliability. Of these 445 subjects, 341 met both DIB-R and DSM-III-R criteria for BPD and 104 met DSM-III-R criteria for another type of personality disorder (and neither criteria set for BPD). The psychopathology of 1,580 first-degree relatives of borderline probands and 472 relatives of Axis II comparison subjects was assessed. Both DSM-III-R and DSM-IV BPD were found to be more common among the relatives of borderline than Axis II comparison probands. However, five of the criteria for BPD (inappropriate anger, affective instability, paranoia/dissociation, general impulsivity, and intense, unstable relationships) and all four sectors of borderline psychopathology (affect, cognition, impulsivity, and interpersonal relationships) were found to be both more common and discriminating than the BPD diagnosis itself. Taken together, the results of this study suggest that the subsyndromal phenomenology of BPD may be more common than the borderline diagnosis itself.     

Prevention opportunities in health care settings

Psychologists have an opportunity to offer their expertise at a time when health care settings are beginning to recognize the importance of behaviorally based interventions for improving health and health care. The authors review the changing patterns of health and illness that have led to an increased interest in the role of patient and provider behavior and discuss the many advantages of using health care settings as prevention sites. Examples of successful behaviorally based prevention programs are presented, along with the evidence supporting the cost-effectiveness of such programs. Challenges presented by working in health care settings are described. Throughout, the authors emphasize the multiple opportunities for psychologists' involvement across a wide variety of health care delivery sites.     

Personality and the predisposition to engage in risky or problem behaviors during adolescence

Longitudinal data from a representative sample of 1,978 Black and White adolescents were used to examine the role of personality in multiple risk or problem behaviors. Results indicate that covariation among diverse behaviors (educational underachievement, delinquent behavior, substance use, sexual behavior) can be adequately modeled by a single higher order factor, and that impulsivity and avoidance coping serve as generalized risk factors for involvement in these behaviors. Whereas none of the personality variables examined explained change in problem behaviors once established, avoidance coping prospectively predicted involvement among a subgroup of adolescents with little or no prior involvement. Results suggest that dysfunctional styles of regulating emotions and emotionally driven behaviors are core features of risky or problem behaviors during adolescence.     

Emancipatory responses to oppression: the template of land-use planning and the Old Order Amish of Ontario

In this paper I discuss the clash of values between the Old Order Amish community of Ontario and the dominant social paradigm in agriculture. Land-use and agricultural regulations, designed for an industrial style of agriculture, are experienced as a threat to the survival of the Old Order Amish agricultural social economy and community. The paper describes how I have worked with the Old Order Amish to respond to these challenges and to create public policies that will allow them to maintain their human and agricultural diversity and small-scale sustainable farm practices. Four case studies illuminating the oppressive land-use regulations along with the emancipatory responses to the oppression are examined. The social transformation themes include principles and processes for community psychologists, land-use planners, and community economic development practitioners to consider. The article has heuristic value for a practice-based approach to social change.     

Uncertainty in pigeons

Pigeons classified a display of illuminated pixels on a touchscreen as sparse or dense. Correct responses were reinforced with six food pellets; incorrect responses were unreinforced. On some trials an uncertain response option was available. Pecking it was always reinforced with an intermediate number of pellets. Like monkeys and people in related experiments, the birds chose the uncertain response most often when the stimulus presented was difficult to classify correctly, but in other respects their behavior was not functionally similar to human behavior based on conscious uncertainty or to the behavior of monkeys in comparable experiments. Our data were well described by a signal detection model that assumed that the birds were maximizing perceived reward in a consistent way across all the experimental conditions.