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.     

The clinical aspects of newborn screening: importance of newborn screening follow-up

The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific analytes by a number of methodologies. Differentiation of true from false negatives is accomplished by the test specificity. This review discusses disorders for which, in general, there are available therapies and that are detected by routine and expanded newborn screening. Recommendations are presented for evaluation by a primary care physician, with confirmation by a metabolic or endocrinology specialist. Disorders are organized in tabular format by class of pathway or analyte, with attention to typical clinical presentations, confirmatory biochemical and molecular tests, and therapies. There are numerous challenges in clinical follow-up, including diagnosis and appropriate understanding of the consequences of the disorders. The data required to meet these challenges can be acquired only by large scale longitudinal comprehensive studies of outcome in children identified by newborn screening. Only with such data can newborn screening fully serve families.     

The Turing Test: the first 50 years

The Turing Test, originally proposed as a simple operational definition of intelligence, has now been with us for exactly half a century. It is safe to say that no other single article in computer science, and few other articles in science in general, have generated so much discussion. The present article chronicles the comments and controversy surrounding Turing's classic article from its publication to the present. The changing perception of the Turing Test over the last 50 years has paralleled the changing attitudes in the scientific community towards artificial intelligence: from the unbridled optimism of 1960s to the current realization of the immense difficulties that still lie ahead. I conclude with the prediction that the Turing Test will remain important, not only as a landmark in the history of the development of intelligent machines, but also with real relevance to future generations of people living in a world in which the cognitive capacities of machines will be vastly greater than they are now.     

Pink or blue: Environmental gender stereotypes in the first two years of life

The physical environment of 120 girls and boys was compared in order to study the emergence of gender differences in infancy. Three age groups were investigated, 5, 13, and 25 months, with 40 children in each group. The quantity and types of toys, the colors and types of clothing, and the colors and motifs of the children's room were noted on a checklist by an observer who visited their homes. The results showed that boys were provided with more sports equipment, tools, and large and small vehicles. Girls had more dolls, fictional characters, child's furniture, and other toys for manipulation. They wore pink and multicolored clothes more often, had more pink pacifiers and jewelry. Boys wore more blue, red and white clothing. They had more blue pacifiers. Yellow bedding was more frequently observed in the girls' rooms, while blue bedding and curtains were more prevalent in the boys' rooms. Women were the predominant providers of toys for children. It thus seems that, nowadays, very early in their development, girls and boys already experience environments which are dissimilar. We may hypothesize that these differential environments will have an impact on the development of specific abilities and preferential activities in children.This research was supported by grants from the Natural Sciences and Engineering Research Council of Canada, and FCAR, Québec. We thank France Frenette and Diane Mathurin for their assistance in the collection of data, and Tibie Rome-Flanders for her comments on a first draft of the paper.     

Psychology and Aging: the first 20 years

This article provides a review of the first 20 years of Psychology and Aging, the American Psychological Association's first and only scholarly journal devoted to the topic of aging. The authors briefly summarize its history, its contributions to the study of aging, and its broader status as a scholarly publication. One theme highlighted in our review is the diversity of content in the journal throughout its history. Another is the strong impact that articles published in the journal have had on both basic and applied topics in aging. Efforts to encompass the breadth of topics and methodologies in aging research while retaining excellent quality remain the exciting but essential challenge for Psychology and Aging.     

Identity development during the first two university years: Exploring intersections between micro-, ontogenetic processes

Identity development processes are explored through analyses of longitudinal interview data collected with ten students during the first two university years. Micro-level analyses, based upon the work of Josephs, I. E. and Valsiner, J. [(1998). How does autodialogue work? Miracles of meaning maintenance and circumvention strategies. Social Psychology Quarterly, 61, 68-83], entailed the identification of oppositional meaning complexes—statements of conflicting meaning about self—as well as circumvention strategies. Ontogenetic analyses of developmental trajectories were based on Freeman, M. and Robinson, R.'s [(1990). The development within: An alternative approach to the study of lives. New Ideas in Psychology, 8, 53-72] conceptualization of the developmental process. From the ontogenetic analyses, two primary developmental patterns, and several subpatterns, were identified. Linkages between micro and ontogenetic levels were indicated by differences in rates of oppositional meaning complexes for individuals engaged in “developmental work” compared to those not so engaged, and differences in across-time patterning of these complexes for developmental subgroups. Findings support the potential of these methods for identifying semiotic mechanisms that are associated with longer-term developmental change.     

On becoming a family therapist: The first three years

The process of learning to conduct family therapy involves encountering and mastering specific issues which can be conceptualized as occurring in a hierarchy of stages. This article describes five stages in the development of a beginning family therapist: immobilization, collecting techniques, examination of self, in search of a theory, and maintaining energy.     

Multiple personality and hypnosis: the first one hundred years

The Enlightenment brought with it a greater scientific interest in and attention to a wider range of human behavior. In 1789, there emerged during the French Revolution a case of what would be today called multiple personality disorder which came under the care of a local physician, Dr. Eberhard Gmelin. Gmelin had only recently become interested in mesmerism and tried this procedure with this patient. So started an ongoing and gradually increasing exploration of the role of hypnosis in multiple personalities. This paper contributes to the historical background of such psychodynamic concepts as dissociation, splitting, repression, consciousness, subconscious, and unconscious.     

Current status of newborn screening: decision-making about the conditions to include in screening programs

Newborn screening is considered a highly successful public health program that has resulted in the reduction of mortality, mental retardation, and other serious disabilities in thousands of children since the introduction of screening for phenylketonuria (PKU) in the 1960s. Programs are based in state public health departments such that each state independently reaches decisions as to which conditions should be mandated for inclusion in programs, leading to considerable variability among the states as to what is being screened. New technologies and knowledge of the genetics of many conditions have greatly expanded the number of conditions with potential for inclusion in newborn screening.     

Spontaneous visual search during the first two years: Improvement with age but no evidence of efficient search

Efficient visual search, wherein reaction times to acquire targets are largely independent of array size, is commonly observed in adults. Evidence for efficient search in infants may imply that selective attention to visual features is similar across development. In the current cross-sectional eye-tracking study, we examined spontaneous visual search at 6, 12, 18, and 24 months. Infants were presented with Random arrays (one target among 7, 13, or 26 pseudorandomly distributed elements) and Circle arrays (one target among 4, 7, or 13 elements arranged in a circle). Contrary to predictions, we did not find evidence of efficient search among infants. With increasing array size, time-to-target increased, the proportion of targets fixated (analogous to accuracy) decreased, and the proportion of first looks to the target decreased for both types of array (ps < .001). For Random arrays, the proportion of first looks to the target was similar to chance for all ages and array sizes; for Circle arrays, it exceeded chance for some ages and array sizes. The proportion of targets fixated and first looks to target increased with age across display types (ps < .05). We also tested adults with the same stimuli under similar conditions; the adults showed evidence of efficient visual search. Possible explanations and implications are discussed.     

Universal newborn screening and adverse medical outcomes: a historical note

Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results.     

Changing perspectives on the benefits of newborn screening

The likelihood of benefit is fundamental to decision making about newborn screening. But benefit is construed in different ways by different stakeholders. This article begins with a review of benefit as considered historically by various expert panels and organizations. We then show how 78 conditions fared when experts recently rated them on benefit using a scoring system recommended by a task force of the American College of Medical Genetics. Finally, we analyze how benefit is reflected in the public comments submitted in response to the ACMG report. Results show that benefit has been and remains a core consideration for screening decisions. Historically the focus has been on improved physical health as a result of medical treatment; however, in only 4 of the 78 conditions rated does newborn screening prevent all negative consequences. In fact the majority of both core conditions (51.7%) and secondary targets (87.5%) recommended in the ACMG report were rated as having treatments that prevented only some negative consequences. All conditions rated had perceived benefits for family and society, but currently no conditions are screened on the basis of family or societal benefits alone. No agreed-upon threshold exists for what would be considered meaningful benefit, and stakeholder groups differ in their perceptions of benefit. We conclude by suggesting several key research studies needed to further inform public policy.     

Doctoral school psychology program graduates in the United States: The first seventeen years

Graduates of all known doctoral school psychology programs in the United States from the inception of school programs in 1953 through 1970 were identified and sent survey forms to determine their background, professional development and interests, and their concerns about training. Findings were based on a 78% return rate. The conclusion reached is that separate doctoral programs in school psychology appear at present to be an efficacious way to ensure orientation, commitment, and training for the application of psychology to school problems.     

Taking stock: The first 25 years of the Journal of Applied Behavior Analysis

Some aspects of the performance of the Journal of Applied Behavior Analysis (JABA) are described on the occasion of the journal's 25th anniversary. Comparative circulation data are presented. JABA's influence on the scientific community is measured by examining the citation history of articles that it has published, with attention to both frequency and source of the citations. The influence that other journals have on JABA's authors is assessed through an analysis of citations made by those authors in this journal's reference lists. The citation history indicates clearly that JABA has made substantial contributions toward producing methods useful in coping with a wide variety of problem behaviors, from profound developmental disabilities (such as autism) to the simpler behavioral problems that interfere with normal functioning in home and at school. Recently, the journal has devoted many issues and parts of issues to special topics, in a concerted effort to reflect the increasing breadth of applied behavioranalysis.