Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.
Cognitive deficits are routinely evident in schizophrenia, and are of sufficient magnitude to influence functional outcomes in work, social functioning and illness management. Cognitive remediation is an evidenced-based non-pharmacological treatment for the neurocognitive deficits seen in schizophrenia. Narrowly defined, cognitive remediation is a set of cognitive drills or compensatory interventions designed to enhance cognitive functioning, but from the vantage of the psychiatric rehabilitation field, cognitive remediation is a therapy which engages the patient in learning activities that enhance the neurocognitive skills relevant to their chosen recovery goals. Cognitive remediation programs vary in the extent to which they reflect these narrow or broader perspectives but six meta-analytic studies report moderate range effect sizes on cognitive test performance, and daily functioning. Reciprocal interactions between baseline ability level, the type of instructional techniques used, and motivation provide some explanatory power for the heterogeneity in patient response to cognitive remediation.
Cognitive rehabilitation therapies for Alzheimer’s disease (AD) are becoming more readily available to the geriatric population in an attempt to curb the insidious decline in cognitive and functional performance. However, people with AD may have difficulty adhering to these cognitive treatments due to denial of memory deficits, compromised brain systems, cognitive incapacity for self-awareness, general difficulty following through on daily tasks, lack of motivation, hopelessness, and apathy, all of which may be either due to the illness or be secondary to depression. Cognitive rehabilitation training exercises are also labor intensive and, unfortunately, serve as a repeated reminder about the memory impairments and attendant functional consequences. In order for cognitive rehabilitation methods to be effective, patients must be adequately engaged and motivated to not only begin a rehabilitation program but also to remain involved in the intervention until a therapeutic dosage can be attained. We review approaches to cognitive rehabilitation in AD, neuropsychological as well as psychological obstacles to effective treatment in this population, and methods that target adherence to treatment and may therefore be applicable to cognitive rehabilitation therapies for AD. The goal is to stimulate discussion among researchers and clinicians alike on how treatment effects may be mediated by engagement in treatment, and what can be done to enhance patient adherence for cognitive rehabilitation therapies in order to obtain greater cognitive and functional benefits from the treatment itself.
This article describes the psychometric validation of a scale designed to measure intrinsic motivation (IM) in schizophrenia. Recent studies have highlighted the relationship between motivation and functional outcome in schizophrenia and identified IM as an important mediating factor between neurocognition and psychosocial outcome. It therefore becomes imperative to have validated measures of IM for empirical use. To that end, we validated a self-report IM scale that gauges the central motivational structures identified by Self-determinism Theory as pertinent to cognitive task engagement, skill acquisition, treatment compliance, and remediation outcome. Participants were schizophrenia outpatients involved in a cognitive remediation study (n = 58), a convenience subsample of clinically stable schizophrenia outpatients (n = 15), and a group of healthy normals (n = 22). The Intrinsic Motivation Inventory for Schizophrenia Research (IMI-SR) is a concise instrument, possessing good internal consistency (alpha = .92) and test-retest reliability (intraclass correlation = .77). Data were analyzed to abridge the original 54 items into a final 21-item questionnaire comprised of 3 domains relevant to motivation for treatments (interest/enjoyment, perceived choice, value/usefulness). The scale was highly associated with germane constructs of motivation for health-related behaviors, including perceived competency for attempting challenging tasks and autonomous treatment engagement. Importantly, the scale was able to distinguish improvers and nonimprovers on a cognitive task and actual learning exercises, delineate high vs low treatment attendance, and demonstrate sensitivity to motivational changes due to intervention variation. The IMI-SR is a viable instrument to measure IM in schizophrenia as part of a cognitive remediation protocol or psychosocial rehabilitation program.
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