Harlequin Ichthyosis among the Navajo: Counseling issues

Harlequin Ichthyosis is a rare, fatal congenital disorder of keratinization characterized by thickened, scale-like plaques of skin with a diamond configuration. Autosomal recessive inheritance has been established, and prenatal diagnosis for this disorder remains controversial. Five infants with this disorder were born among approximately 25,000 Navajo women who delivered in Gallup, New Mexico from 1970 to 1989. The incidence of 1 in 5000 among the Navajo in Gallup is high compared to previous reports in other populations. Two families with affected infants were seen in a genetics outreach clinic. Two important counseling issues were raised: (1) reluctance to discuss the possibility of recurrence for fear of affecting the outcome, and (2) feelings of guilt caused by cultural beliefs which attributed the birth defect to paternal behavior during pregnancy. Such issues are encountered in many traditional cultures, and they can be addressed by tailoring the timing and content of counseling.The opinions expressed are those of the authors, and are not to be construed as reflecting the views of the Public Health Service.     

Luria's Neuropsychological Evaluation in the Nordic Countries

The publication of Luria's Neuropsychological Investigation (LNI) by Christensen in 1975 introduced Luria's evaluation procedures to worldwide neuropsychology. The LNI demonstrated the benefit of a thorough qualitative analysis of an individual patient's functioning as well as the usefulness of a comprehensive theory of brain functioning. This article reviews the experiences that led to the development of the LNI, discusses its use and extension in Scandinavian countries, and presents clinical and research applications of the LNI in diagnosis and rehabilitation. A series of case examples provides justification and validity for the continued use of the LNI and related procedures. Discussion of the advantages and disadvantages of the LNI and consideration of possible modifications of the procedures and interpretative methods provide the rationale for continued development of Luria's approach.     

Features of Interview Questions Associated with Attenuation of Symptom Reports

Previous studies have suggested that discrepant reporting in a test–retest reliability paradigm is not purely random measurement error, but partly a function of a systematic tendency to say no during retest to questions answered positively at initial testing (attenuation). To examine features of interview questions that may be associated with attenuation, three raters independently assessed the structural and content features of questions from the Diagnostic Interview Schedule for Children (version 2.3) and linked these to data from a test–retest reliability study of 223 community respondents (parent and child reports). Results indicated that for both parent and youth reports, item features most strongly associated with attenuation were (a) being a stem question (asked of all respondents, regardless of any skip structure); (b) question placement in the first half of the interview; (c) question length; (d) question complexity; or (e) requiring assessment of the timing, duration, or frequency of a symptom. Findings may be explained by participants' conscious efforts to avoid further questions or by their learning more about the nature and purpose of the interview as they gain more experience; alternatively, findings may represent a methodological artifact of structured interview design.     

“人类所有的疾病都是基因病”吗

人类基因组图谱（HGP）研究大大加深了人们对疾病的理解。然而,作为人体这个复杂系统的一种非常态特征,疾病的发生不仅受遗传因素的影响,还受到身体内部其他因素以及自然环境、社会环境等外部因素的影响。所以,并不能简单地将所有的疾病都归结为基因病。     

Across the Spectrum: Case Studies in Genetic Counseling for Breast and Ovarian Cancer

We present three vignettes based on participants counseled as part of a clinical research program. These include a young unaffected woman at risk for a familial mutation, a newly diagnosed breast cancer patient, and a woman with recurrent ovarian cancer. Through the use of detailed vignettes, multifaceted issues that arise in cancer genetic counseling are highlighted.     

Prenatal Diagnosis for Inherited Deafness—What is the Potential Demand?

Genetic testing for inherited deafness is now available within some genetics centres. This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and hearing individuals toward PND and termination of pregnancy (TOP) for hearing status. Participants were self-selected from the whole of the UK, of whom 644 were deaf, 143 were hard of hearing or deafened, and 527 were hearing individuals who had either a deaf parent or child. The results showed that 21% of deaf, 39% of hard of hearing and deafened, and 49% of hearing participants said they would consider PND for deafness. Six percent of deaf, 11% of hard of hearing and deafened, and 16% of hearing participants said they would consider a TOP if the fetus was found to be deaf. Two percent of deaf participants said they would prefer to have deaf children and would consider a TOP if the fetus was found to be hearing.     

口腔专业适宜技术与诊疗最优化

推行适宜技术和诊疗最优化的原则是避免过度医疗的有效途径。而在口腔专业中必须要体现其特殊性。口腔治疗的总体目标是健康、美观,这一目标有赖于患者的主观评价;患者在治疗中具有自主选择的权利,而医生提供专业上的支持和具体的执行。因此口腔科适宜技术的基本要求是:适合患者的自身条件和需求、符合医学专业诊疗原则的要求以及适合医生的个人技术水平。然而对于我国现阶段而言,适宜技术是一个宽泛且较低的标准,而口腔临床工作中应该以最优化的治疗作为实际追求的目标。     

腰椎疾病病因、诊疗方法的研究

腰椎疾病近年来发病率呈上升趋势,以退行性疾病、腰椎间盘突出和骨折创伤为主要类型。从疾病起源、发展、转归的角度,结合自然辩证法的理论,针对腰椎疾病的病因、诊断标准、治疗方法及效果三个方面进行了阐述和展望。对哲学应用于临床实践和科研教学等方面的基本问题,如对疾病发展规律的研究,诊断理论的建构等,进行了论述。     

Games in Clinical Genetic Counseling Supervision

Games are defined as ongoing series of complementary ulterior transactions that are superficially plausible but have a concealed motivation to maximize pay-offs and minimize penalties for the initiator. While some games are harmless and part of socialization, others are destructive. Destructive game-playing in clinical supervision, in which game-playing (initiated by either supervisors or students) interferes with a student's realization of internship goals, has been documented in some allied healthcare professions but has not yet been studied in genetic counseling. Genetic counselors and clinical supervisors of genetic counseling students were anonymously surveyed regarding their experiences with destructive game-playing. Results show that such games do occur in genetic counseling clinical supervision. Some games are the same or similar to ones previously described in other health-care professions; others may be unique to genetic counseling. The purpose of this paper is to document these games as a first step to facilitating dialogue, understanding and awareness of them.     

A Qualitative Investigation of Student and Supervisor Perceptions of Live Supervision in Genetic Counseling

Live supervision of genetic counseling students is critical for ensuring quality client care and student clinical skill development. However, no research has investigated students' and supervisors' experience of this primary supervision method. In this study, separate focus groups of students and supervisors discussed their perceptions of the nature and impact of live supervision. A modified Consensual Qualitative Research method (Hill et al. (1997) Couns Psychol 25:517–572) was used to analyze the data. Results suggest that live supervision is an essential and effective method that promotes student skill development and professional development for both students and supervisors. There is a lack of formal training regarding supervision; most learning is trial and error. Students worry about being evaluated, and supervisors wonder if they are providing supervision effectively. Both samples emphasized that client care should not be compromised. Participant recommendations for improving live supervision are described, and suggestions are made for future research.