Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the large rare CNVs associated with schizophrenia have been shown to negatively affect IQ in population-based controls where no major neuropsychiatric disorder is reported. The aim of this study was to examine the diagnostic yield of microarray testing and the functional impact of genome-wide rare CNVs in a community ascertained cohort of adults with schizophrenia and low (< 85) or average (≥ 85) IQ. We recruited 546 adults of European ancestry with schizophrenia from six community psychiatric clinics in Canada. Each individual was assigned to the low or average IQ group based on standardized tests and/or educational attainment. We used rigorous methods to detect genome-wide rare CNVs from high-resolution microarray data. We compared the burden of rare CNVs classified as pathogenic or as a variant of unknown significance (VUS) between each of the IQ groups and the genome-wide burden and functional impact of rare CNVs after excluding individuals with a pathogenic CNV. There were 39/546 (7.1%; 95% confidence interval [CI] = 5.2–9.7%) schizophrenia participants with at least one pathogenic CNV detected, significantly more of whom were from the low IQ group (odds ratio [OR] = 5.01 [2.28–11.03], p = 0.0001). Secondary analyses revealed that individuals with schizophrenia and average IQ had the lowest yield of pathogenic CNVs (n = 9/325; 2.8%), followed by those with borderline intellectual functioning (n = 9/130; 6.9%), non-verbal learning disability (n = 6/29; 20.7%), and co-morbid intellectual disability (n = 15/62; 24.2%). There was no significant difference in the burden of rare CNVs classified as a VUS between any of the IQ subgroups. There was a significantly (p=0.002) increased burden of rare genic duplications in individuals with schizophrenia and low IQ that persisted after excluding individuals with a pathogenic CNV. Using high-resolution microarrays we were able to demonstrate for the first time that the burden of pathogenic CNVs in schizophrenia differs significantly between IQ subgroups. The results of this study have implications for clinical practice and may help inform future rare variant studies of schizophrenia using next-generation sequencing technologies.
Three patients are described in whom surgical removal of a craniopharyngioma was followed by extreme hyperphagia resulting in obesity and abnormal food-seeking behavior, including foraging for food, stealing food or stealing money for food. These behaviors resemble those seen in the Prader-Willi syndrome but contrast with those noted in bulimia. This deviant behavior was a major factor in the poor outcome of surgery. Attempts at rehabilitation were unsuccessful.
A 37-item survey covering a variety of somatopsychic domains was constructed to explore patients' subjective response to treatment with clozapine. The survey was administered to 130 patients with diagnoses of chronic schizophrenic or schizoaffective disorders who were on a stable clozapine regimen. The majority reported improvement in their level of satisfaction, quality of life, compliance with treatment, thinking, mood, and alertness. Most patients reported worsening in nocturnal salivation, and smaller numbers reported worsening in various gastrointestinal and urinary symptoms and weight gain. This general health survey highlights the patients' positive regard for clozapine, despite adverse bodily experiences. Subjective reports are a useful component of outcome measures of drug treatment.
Concordance is reported of Gilles de la Tourette syndrome in a male twin pair in whom phenotyping revealed a >98·7% probability that they were monozygotic. The development and extent of the illness differed markedly in the two subjects. Our findings are compatible with the view that there is a genetic form of Gilles de la Tourette syndrome.
Abstract NOTE: The first page of text has been automatically extracted and included below in lieu of an abstract SESSION NUMBER _________ The Transition from Textbook Problems to Realistic Problems J. A. M. Boulet, A. Lumsdaine, J. F. Wasserman University of Tennessee Abstract The vision of this project is to help students make the transition from textbook problems to realistic engineering problems in which modeling precedes analysis and analysis requires inte- gration of concepts from various courses. To fulfill this vision, a self-paced, internet-based suite of learning tools is being developed. They are structured to provide “just-in-time” information and to allow a user’s errors to shape the learning path. Simulated experiments, video clips, and multiply branched paths give students the opportunity to learn by discovery. Prior to using the developed tools, students take a “learning style” test. Then two groups of students are given a “pre-test” and a “post-test” on the material covered in one of the instruc- tional tools. In the period between the two tests, one group is given access to the learning tool, but the other (control) group is not. Analysis of the resulting data is intended to reveal how the tool aids individuals with different learning styles, and how the tool aids all users relative to the control group. Introduction As instructors in undergraduate courses in various areas of engineering mechanics, we find that students commonly have difficulty in applying principles studied in the classroom when tak- ing subsequent courses that build on these principles. The movement from tutoring to large classes has greatly reduced the level of learning.1 Bloom demonstrated a move from 50% com- prehension in large classes to 90% comprehension if pathways to mastery were developed.1 Mastery of the fundamentals is important not only in the study of increasingly advanced topics, but also in solving realistic engineering problems. The phrase “realistic engineering problem” is used here in a restricted sense. By it we denote problems that require some modeling prior to analysis, that require the integration of concepts typically encountered separately in the undergraduate engineering curriculum, and that have unique answers. Because of this last restriction, we do not include open-ended problems Students’ difficulties in moving from textbook problems to realistic engineering problems is not surprising, since textbook problems are necessarily much simpler than realistic engineering problems. (One must first grasp basic concepts and principles, and then apply them to simplified “Proceedings of the 2004 American Society for Engineering Education Annual Conference & Exposition Copyright 2004, American Society for Engineering Education”
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