Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. 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 healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Family Processes and Treatment Outcome in the MTA: Negative/Ineffective Parenting Practices in Relation to Multimodal Treatment

To elucidate processes underlying therapeutic change in a large-scale randomized clinical trial, we examined whether alterations in self-reported parenting practices were associated with the effects of behavioral, medication, or combination treatments on teacher-reported outcomes (disruptive behavior, social skills, internalizing symptoms) in children with attention-deficit hyperactivity disorder (ADHD). Participants were 579 children with Combined-type ADHD, aged 7–9.9 years, in the Multimodal Treatment Study of Children with ADHD (MTA). We uncovered 2 second-order factors of parenting practices, entitled Positive Involvement and Negative/Ineffective Discipline. Although Positive Involvement was not associated with amelioration of the school-based outcome measures, reductions in Negative/Ineffective Discipline mediated improvement in children's social skills at school. For families showing the greatest reductions in Negative/Ineffective Discipline, effects of combined medication plus behavioral treatment were pronounced in relation to regular community care. Furthermore, only in combination treatment (and not in behavioral treatment alone) was decreased Negative/Ineffective Discipline associated with reduction in children's disruptive behavior at school. Here, children in families receiving combination treatment who showed the greatest reductions in Negative/Ineffective Discipline had teacher-reported disruptive behavior that was essentially normalized. Overall, the success of combination treatment for important school-related outcomes appears related to reductions in negative and ineffective parenting practices at home; we discuss problems in interpreting the temporal sequencing of such process-outcome linkages and the means by which multimodal treatment may be mediated by psychosocial processes related to parenting.     

Parenting and Family Stress Treatment Outcomes in Attention Deficit Hyperactivity Disorder (ADHD): An Empirical Analysis in the MTA Study

Parenting and family stress treatment outcomes in the MTA study were examined. Male and female (579), 7–9-year-old children with combined type Attention Deficit Hyperactivity Disorder (ADHD), were recruited at six sites around the United States and Canada, and randomly assigned to one of four groups: intensive, multi-faceted behavior therapy program alone (Beh); carefully titrated and monitored medication management strategy alone (MedMgt); a well-integrated combination of the two (Comb); or a community comparison group (CC). Treatment occurred over 14 months, and assessments were taken at baseline, 3, 9, and 14 months. Parenting behavior and family stress were assessed using parent-report and child-report inventories. Results showed that Beh alone, MedMgt alone, and Comb produced significantly greater decreases in a parent-rated measure of negative parenting, Negative/Ineffective Discipline, than did standard community treatment. The three MTA treatments did not differ significantly from each other on this domain. No differences were noted among the four groups on positive parenting or on family stress variables. Results are discussed in terms of the theoretical and empirically documented importance of negative parenting in the symptoms, comorbidities and long-term outcomes of ADHD.     

Therapeutic Implications of a Social Interaction Model of Posttraumatic Stress

Out of the many aspects of posttraumatic adaptation the role of self-process is emphasized, where self is conceptualized as the representation of social interaction: Not only the messages conveyed by others, but also a person's inner response to that messages, forms ongoing self-processes. Traumatic experiences lead to distorted self-processes, to a great extent due to posttraumatic inner dialogues. Therapeutic implications and experiences from Bosnia are discussed, where this model has been applied.     

The Client Is the Most Important Common Factor: Clients' Self-Healing Capacities and Psychotherapy

I first briefly review the dodo bird verdict and suggest that we should be responding to it by looking for a new way to conceptualize how therapy works. Then I describe the dominant medical or treatment model of psychotherapy and how it puts the client in the position of a dependent variable who is operated on by supposedly potent therapeutic techniques. Next I argue that the data do not fit with this model. An alternative model is that the client is the most important common factor and that it is clients' self-healing capacities which make therapy work. I then argue that therapy has two phases—the involvement phase and the learning phase—and that the involvement phase is the most important. I next review the five learning opportunities provided by therapy. Finally, I argue that a relational model of therapy focused on consultation, collaboration, and dialogue is better than a treatment model.     

Family-Based Therapy for Adolescent Drug Abuse: Knowns and Unknowns

Family-based therapy is one of the most thoroughly studied treatments for adolescent drug abuse. Considerable empirical support exists for the efficacy of family-based therapy in curtailing adolescent drug use and cooccurring behavior problems. This article extends knowledge of the effects of family-based therapy for adolescent drug abuse by reviewing 16 controlled trials and 4 therapy process studies from a treatment development perspective. We articulate knowns and unknowns regarding the outcomes of treatment as well as the components, processes, mechanisms, moderators, and boundaries of effective family-based therapy for adolescent drug abuse. The review highlights areas of progress and future research needs within the specialty of family-based therapy for adolescent drug abuse.     

The Role of Families and Care Givers as Risk and Protective Factors in Preventing Youth Violence

This paper reviews research which discusses the risk and protective functions that families and other caregivers provide in influencing the development of aggressive behavior in youth. Currently, there is an emphasis on providing violence prevention programs in the school environment, typically with little parental or caregiver involvement. By enhancing the role of families and caregivers in youth violence prevention programs, we assert that an unique opportunity exists to both address specific risk factors for violence while enhancing the protective features of the family. Relatedly, the risk literature on youth violence indicates that the most influential risk factors (i.e., the family, community, and peers) have their principle impact on youth aggression outside the school. We suggest a shift in the focus of violence prevention programming that is more inclusive of families as both a risk and protective agent. In support of this position, relevant theory and reviews of exemplary family-involved programs are offered. Challenges to involving youth caregivers are identified and recommendations for overcoming those challenges suggested. Last, recommendations for future research and public policy in the prevention of youth violence are offered.     

The Therapeutic Factors Inventory: Development of a Scale

Although Yalom's (1995) framework of the therapeutic factors facilitating outcome in group has been accepted by group specialists, no empirically based instrument assesses all of these factors. The Therapeutic Factors Inventory (TFI), with 11 scales based on the therapeutic factors, has been designed to fill this gap. This article summarizes the development and preliminary reliability testing of the TFI. Each scale of the instrument demonstrated high internal consistency; however, one scale obtained unacceptably low test-retest reliability. Further validity testing is needed. Implications of these findings are discussed.     

The Factor Structure of the Beavers Interactional Scales

Confirmatory factor analysis and regression analyses of the Beavers Interactional Scales did not appear to support the model offered by its developers, namely, several specified family attributes contributing respectively to two global factors of Family Competence and Family Style. Moreover, regression analysis indicated that only three of 12 items predicted raters' assessments of Global Family Health, and one of seven items predicted Global Family Style. Individuals interested in the family dynamic centripetal/centrifugal might best think of that as a unitary entity and rate it accordingly.     

社会因素对剖宫产率的影响

近二三十年来,剖宫产率在世界范围内不断升高。究其原因,除了医学因素外,社会因素起着重要作用,从社会经济发展,社会科学文化水平、社会习俗观念、法律、医疗道德、国家计划生育政策、医学教育等多个角度分析了社会因素对剖宫产率的影响,并就如何发挥社会因素的积极作用,消除和避免其消极作用,使剖部率维持在合理的范围内进行了讨论。