Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage

Deletions, translocations, or point mutations in the CREB-binding protein (CBP) gene have been associated with Rubinstein-Taybi Syndrome; a human developmental disorder characterized by retarded growth and reduced mental function. To examine the role of CBP in memory, transgenic mice were generated in which the CaMKII alpha promoter drives expression of an inhibitory truncated CBP protein in forebrain neurons. Examination of hippocampal long-term potentiation (LTP), a form of synaptic plasticity thought to underlie memory storage, revealed significantly reduced late-phase LTP induced by dopamine-regulated potentiation in hippocampal slices from CBP transgenic mice. However, four-train induced late-phase LTP is normal. Behaviorally, CBP transgenic mice exhibited memory deficits in spatial learning in the Morris water maze and deficits in long-term memory for contextual fear conditioning, two hippocampus-dependent tasks. Together, these results demonstrate that CBP is involved in specific forms of hippocampal synaptic plasticity and hippocampus-dependent long-term memory formation.     

Lateralised processing of the internal and the external facial features of personally familiar and unfamiliar faces: a visual half-field study

In this visual half field (VHF) experiment, we investigated possible differences between the left and the right hemisphere in the processing of the internal and external features of familiar and unfamiliar faces. Previous studies using famous and unknown faces had indicated that both hemispheres use the same qualitative mode of processing with the internal features being more important for the perception of familiar faces. In this experiment, personally familiar faces rather than famous faces are used. There are several, mainly methodological, reasons why personally familiar faces are more appropriate stimuli to investigate face processing. The results of the present study showed that no overall visual field effect occurred, but more importantly, that face processing in the left hemisphere differed qualitatively from that in the right hemisphere. The theoretical repercussions of these findings are discussed.     

Epistemology and School Counseling

Because a counselor's interactions with his clients should be an out-growth of his philosophical commitments, he must grapple with certain epistemological questions: (a) Can human beings know the extramental world or merely their own ideas? (b) Is human knowledge a valid representation of the extramental world? (c) Can human beings reach agreement about the nature of extramental realities? The counselor can assume two possible stances. First, there is the “realist” position which states that there is an extramental world, we can achieve valid knowledge of it, and the knowledge of various observers can agree. Second is the “phenomenalist” position: There is an extramental world, but no one can achieve valid knowledge of it, nor can various observers easily agree regarding its nature. The realist counselor should help his client perceive his problem situation as it “really” is and as it appears to others. The phenomenalist counselor cannot do this instead, he can only try to enter the client's subjectivity and to help him deepen and enrich his unique perception of the problem situation.     

A comparison of two types of extinction following fixed-ratio training

Five groups of pigeons were food reinforced on various schedules. Half of each group were extinguished in the normal manner; the others were presented with a stimulus change, previously paired with reinforcement, each time they completed their respective fixed ratios. Response rate in training was an increasing negatively accelerated function of the FR. Increasing the FR produced transitory rate changes, the amount of which yielded a quantitative index of ratio strain. Cumulative records of extinction performance revealed that the stimulus change exerted discriminative control by maintaining the cohesiveness of FR response units. Nevertheless, neither the absolute number of extinction responses nor extinction response units differed appreciably for the two extinction procedures.     

EFFECTS OF WARNING STIMULI FOR REINFORCER WITHDRAWAL AND TASK ONSET ON SELF-INJURY

Results of a functional analysis of self-injurious behavior (SIB) in a child with autism showed that her SIB was maintained by access to preferred objects and escape or avoidance of task demands. Extinction and noncontingent reinforcement treatments were supplemented by presenting a statement combined with a picture cue at 30-s intervals indicating that a preferred object would be removed or a task would be presented. Warning stimuli in combination with extinction and noncontingent reinforcement reduced SIB to acceptable levels. SIB rates remained comparatively high in a control condition consisting of a 2-min delay to onset of reinforcer removal or task demands.     

Getting the Right Idea: Semantic Activation in the Right HemisphereMay Help Solve Insight Problems

Two experiments examined hemispheric differences in information processing that may contribute to solving insight problems. We propose that right-hemisphere (RH) coarse semantic coding is more likely than left-hemisphere (LH) fine semantic coding to activate distantly related information or unusual interpretations of words, and thus more likely to activate solution-relevant information for insight problems. In Experiment 1, after trying to solve insight problems, participants read aloud solution or unrelated target words presented to the left visual field (lvf) or right visual field (rvf). Participants showed greater lvf-RH than rvf-LH priming for solutions for solved problems and priming only in the lvf-RH for unsolved problems. In Experiment 2, participants showed an lvf-RH advantage for recognizing solutions to unsolved problems. These results demonstrate that in a problem-solving context, there was greater activation of solution-relevant information in the RH than in the LH. This activation is useful for recognizing, and perhaps producing, solutions to insight problems.     

Using Brief Functional Analysis to Select Interventions for Oral Reading

Reading interventions were applied in a brief multielement format to examine their effectiveness at improving the oral reading fluency of three students referred for reading problems. Although each student had different profiles across experimental analyses, effective interventions were identified and a mini-replication confirmed the pattern of results in each case.