The utilization of genetic counselors within a newborn screening program

Genetic counselors have participated in the Michigan Newborn Screening Program on a contractual basis since 1988. Their role includes newborn screening education and training, newborn nursery site visits, and monitoring newborn screening in hospitals. Their impact has been to improve the quality of newborn screening services by reducing errors and increasing completion of data fields on newborn screening cards, improving hospital nursery cooperation and problem solving, and enhancing health department response to specific problems.     

A brief neuropsychological screening battery to detect brain damage in a psychiatric population

Seventy-five patients admitted to the psychiatric unit of a general hospital were administered a brief neuropsychological screening battery. Discharge diagnoses obtained from the medical records revealed that 20% had brainbased pathology. A discriminant function analysis resulted in a five-variable model (Symbol-Digit Modalities Test, educational level, Psychiatric-Organic subscale of the MMPI, and Shipley Vocabulary and Abstraction scores) which correctly classified 84% of the subjects, with 87% correct identification of the brain-damaged group. A jackknife cross-validation procedure resulted in comparable hit rates.     

A survey of reimbursement for cystic fibrosis carrier testing

To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually.     

The Development of the Toddler Behavior Screening Inventory

The purpose of the present study was to develop the Toddler Behavior Screening Inventory (TBSI) for rapidly assessing maternal reports of toddler behavior problems. The TBSI is a 40-item measure intended for use by pediatricians, psychologists, and other child-care professionals. A group of mothers (n = 312) rated the initial 93-item TBSI in terms of behavior frequency and parental perception of the behavior as problematic. Following item elimination, 40 items were retained due to being both frequent and problematic at all toddler age levels. Data were obtained with a new sample of mothers (n = 581) and showed the TBSI to possess good reliability and validity.     

Effects of Different Telephone Intervention Styles with Suicidal Callers at Two Suicide Prevention Centers: An Empirical Investigation

To determine the relative effectiveness of telephone intervention styles with suicidal callers, researchers listened unobtrusively to 617 calls by suicidal persons at two suicide prevention centers and categorized all 66,953 responses by the 110 volunteer helpers according to a reliable 20-category checklist. Outcome measures showed observer evaluations of decreased depressive mood from the beginning to the end in 14% of calls, decreased suicidal urgency ratings from the beginning to the end in 27% of calls, and reaching a contract in 68% of calls, of which 54% of contracts were upheld according to follow-up data. Within the context of relatively directive interventions, a greater proportion of Rogerian nondirective responses was related to significantly more decreases in depression. Reduction in urgency and reaching a contract were related to greater use of Rogerian response categories only with nonchronic callers.     

Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primarily genital form of cystic fibrosis (CF). Fourteen males with CBAVD considering microsurgical sperm aspiration from the epididymis (MESA) and in vitro fertilization were seen for genetic counseling and screening for CF. To retrospectively evaluate these patients' perceptions of the counseling and screening information, we conducted structured telephone interviews to assess their recall of information about CF and its impact on their health concerns and reproductive plans. We found that, as the health implications of CF are abstract and not as important to patients as the diagnosis of CBAVD itself, patients tend to view their CF status primarily in terms of their reproductive potential. Retrospective analysis afforded us an opportunity to identify the psychosocial issues of most concern to this unique patient population.     

Pre-screening education in multiple marker screening programs: The effect on patient anxiety and knowledge

Previous studies have shown that unexplained deviations in maternal serum multiple marker screening (MMS) generate considerable anxiety during the remainder of pregnancy. While the role of education in decreasing anxiety is documented, to date there has been no prospective evaluation of which educational practices might minimize this emotional stress. In a pilot study, we prospectively examined the effects on anxiety and knowledge by providing information about MMS (1) by genetic counselor, (2) by pamphlet, and (3) by primary physician. Women randomized to one of these three modalities were administered the Spielberger State- Trait Anxiety Inventory [STAI] and knowledge questionnaires at their initial obstetrics visit, at their second visit after educational intervention and 1–2 weeks after MMS results were provided to patients. Education resulted in an increase in knowledge and post-education knowledge was different between educational modalities. Anxiety declined in patients educated through genetic counseling or a pamphlet.     

人工智能辅助的自闭症早期患者的筛查与诊断

自闭症谱系障碍(AutisticSpectrumDisorders,ASD)的症状早在婴幼儿期就会显现,越早发现,越早干预,治疗效果越好。传统自闭症早期筛查与诊断在评估方法、流程上存在局限,无法满足大规模筛查和诊断需求。随着人工智能技术的快速发展,使用智能化方法进行自闭症早期大规模无感筛查与诊断逐渐成为可能。近10年间,国内外对自闭症智能化识别方法的探索在经典任务行为、面部表情和情绪、眼动、脑影像、运动控制和运动模式、多模态6个领域积累了丰富的研究成果。未来研究应围绕构建国内自闭症早期智能医学筛查与诊断体系,开发针对婴幼儿患者的筛查工具,构建融合多模态数据的自闭症婴幼儿智能化识别模型,建立结合脑影像技术的自闭症精细化诊断方法等方面来开展。     

Choosing what to choose from: Preference for inclusion over exclusion when constructing consideration sets from large choice sets

Decision making is a two‐stage process, consisting of, first, consideration set construction and then final choice. Decision makers can form a consideration set from a choice set using one of two strategies: including the options they wish to further consider or excluding those they do not wish to further consider. The authors propose that decision makers have a relative preference for an inclusion (vs. exclusion) strategy when choosing from large choice sets and that this preference is driven primarily by a lay belief that inclusion requires less effort than exclusion, particularly in large choice sets. Study 1 demonstrates that decision makers prefer using an inclusion (vs. exclusion) strategy when faced with large choice sets. Study 2 replicates the effect of choice set size on preference for consideration set construction strategy and demonstrates that the belief that exclusion is more effortful mediates the relative preference for inclusion in large choice sets. Studies 3 and 4 further support the importance of perceived effort, demonstrating a greater preference for inclusion in large choice sets when decision makers are primed to think about effort (vs. accuracy; Study 3) and when the choice set is perceived as requiring more effort because of more information being presented about each alternative (vs. more alternatives in the choice set; Study 4). Finally, Study 5 manipulates consideration set construction strategy, showing that using inclusion (vs. exclusion) in large choice sets leads to smaller consideration sets, greater confidence in the decision process, and a higher quality consideration set.