Prevalence of Genetic Testing in CHARGE Syndrome

Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation. Half (50%) of those who underwent testing did so as a part of a conference blood draw by Baylor College of Medicine in 1999. Children who were tested were significantly younger than those who had not been tested. A second group of 43 parents were informally surveyed at a conference in 2009. More than half of their children had been tested, and nearly 70% were positive for the mutation. Reasons given by these parents for testing included confirming the diagnosis and assisting research. Reasons given for not testing included lack of opportunity, no known benefit, and lack of insurance coverage.     

Executive function in CHARGE syndrome.

This study addressed the presence of executive dysfunction in children with CHARGE syndrome, a genetic disorder with multiple physical anomalies and severe challenging behaviors. Ninety-eight children were included in the study. More than half received clinically significant scores on the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al., 2000) scales of Shift, Monitor, and the Behavioral Regulation Index, with additional high scores on Inhibit and the Global Executive Composite. Associations were found with the age the child first walked, scores on the Autism Behavior Checklist (ABC; Krug et al., 1993), and being classified as deafblind. Difficulties with making transitions and flexible problem solving, monitoring their work and their effect on others, and acting on impulse, may be related to the behavioral difficulties exhibited by children with CHARGE. Interventions targeting improved self-regulation may help to manage this challenging behavior.     

Premenstrual Syndrome and Misattribution: A Self-Perception,Individual Differences Perspective

Self-perception theory suggests that premenstrual syndrome (PMS) may arise from the misattribution of hormone-induced bodily changes. If so, individual differences in the role of bodily responses in emotional feelings, measured in a separate expression-manipulation procedure, should be related to susceptibility to PMS. In Study 1, women responsive to cues from their bodies showed significant mood changes, both negative and positive, with their cycle, over a 60 day span; whereas women relatively unresponsive to personal, bodily cues showed no consistent cycle effects. PMS was also predicted by a measure of emotional complexity. In Study 2 women whose moods were based on bodily cues also rated their moods as less positive if they were in their premenstrual week, and women unresponsive to their bodies were unaffected by their cycle. A reminder of their cycle-stage prevented PMS in the body cue group, which is a kind of discounting effect. Women who were unresponsive to their bodies also did not show PMS, and were unaffected by the reminder.     

Introspection,Anton's Syndrome,and Human Echolocation

Philosophers have recently argued that since there are people who are blind, but don't know it, and people who echolocate, but don't know it, conscious introspection is highly unreliable. I contend that a second look at Anton's syndrome, human echolocation, and ‘facial vision’ suggests otherwise. These examples do not support skepticism about the reliability of introspection.     

The Parent Alienation Syndrome: A Family Therapy and Collaborative Systems Approach to Amelioration,by L. Gottlieb

No abstract available for this article.     

威廉斯综合症及其研究现状

威廉斯综合症是一种上世纪 60年代才被人类认识的疾病。该病症有特殊的生理、行为和认知异常 ,脑发育伴随着结构和临床异常。本文对国外40年的研究成果进行了总结 ,初步介绍了威廉斯综合症的症状表现、认知特征、行为特征及诊断治疗方面的研究现状 ,最后对该领域的研究提出了展望。     

Battered Woman Syndrome Questionnaire (BWSQ) Subscales: Development,Reliability, and Validity

ABSTRACT

The current study describes the development and evaluation of the reliability and validity of four components of a comprehensive assessment designed for the purpose of identifying women who manifest symptoms due to an intimate partner violence (IPV) relationship: The Battered Woman Syndrome Questionnaire (BWSQ). More specifically, the purpose of this study was to evaluate the factor structure, validity, temporal stability and internal consistency of four instruments for measuring current functioning of IPV survivors; (a) Interpersonal relationship (BWSQ-IR), (b) Sexual Dysfunction (BWSQ-SD), (c) Body Image (BWSQ-BI), and (d) Post-Traumatic Stress Checklist (BWSQ-PTSC). Overall, results indicate the BWSQ subscales have good temporal stability and internal consistency. Exploratory factor analysis of the four subscales indicate that each has a unidimensional factor structure. Internal consistency was high for each of the subscales. A two-way mixed effects model, intraclass correlation was used to demonstrate a high degree of test-retest reliability. Convergent and discriminant validity was demonstrated by comparing each subscale with the Revised Adult Attachment Scale (AAS), the Derogatis Interview of Sexual Functioning – Sexual Response (DISF-SR), the Objectified Body Consciousness Scale (OBCS) and the Trauma Symptom Inventory (TSI). The four instruments demonstrate sound psychometric properties as standalone measures as well as subscales of the BWSQ.     

The Gnostic Syndrome: Anorexia nervosa

‘The Gnostic Syndrome’ discusses anorexia nervosa in terms of its poetics and in the context of a developmental object-relations theory. One case is used to illustrate the problems of therapy and the antecedents of the anorexia in childhood and adolescence. The paper forms an investigation into pre-moral states and the interaction of anorexia with character structure.     

The Non-Achievement Syndrome,Group Therapy,and Achievement Change

174 selected failing students at Illinois Institute of Technology were provided group counseling as a condition of their remaining in school. The assumption of the psychodynamics of the non-achievement syndrome was made regarding these students and a group counseling approach (NAS therapy) derived from an approach delineated by Roth and Meyersburg seemed appropriate and was utilized. 52 male subjects in this population were randomly selected for study as were 52 probationary, noncounseled males who were used as a comparison group. The results indicated that the counseled group increased their GPA's significantly and that these changes held over time. The GPA's of the comparison group did not increase significantly. The differences were attributable to the counseling experience.