With the increasing sophistication and ubiquity of the Internet, behavioral research is on the cusp of a revolution that will do for population sampling what the computer did for stimulus control and measurement. It remains a common assumption, however, that data from self-selected Web samples must involve a trade-off between participant numbers and data quality. Concerns about data quality are heightened for performance-based cognitive and perceptual measures, particularly those that are timed or that involve complex stimuli. In experiments run with uncompensated, anonymous participants whose motivation for participation is unknown, reduced conscientiousness or lack of focus could produce results that would be difficult to interpret due to decreased overall performance, increased variability of performance, or increased measurement noise. Here, we addressed the question of data quality across a range of cognitive and perceptual tests. For three key performance metrics-mean performance, performance variance, and internal reliability-the results from selfselected Web samples did not differ systematically from those obtained from traditionally recruited and/or lab-tested samples. These findings demonstrate that collecting data from uncompensated, anonymous, unsupervised, self-selected participants need not reduce data quality, even for demanding cognitive and perceptual experiments.
Compared with notable successes in the genetics of basic sensory transduction, progress on the genetics of higher level perception and cognition has been limited. We propose that investigating specific cognitive abilities with well-defined neural substrates, such as face recognition, may yield additional insights. In a twin study of face recognition, we found that the correlation of scores between monozygotic twins (0.70) was more than double the dizygotic twin correlation (0.29), evidence for a high genetic contribution to face recognition ability. Low correlations between face recognition scores and visual and verbal recognition scores indicate that both face recognition ability itself and its genetic basis are largely attributable to face-specific mechanisms. The present results therefore identify an unusual phenomenon: a highly specific cognitive ability that is highly heritable. Our results establish a clear genetic basis for face recognition, opening this intensively studied and socially advantageous cognitive trait to genetic investigation.behavioral genetic | face recognition | individual differences | specialist gene | generalist gene G eneral intelligence, or g, has received great attention in both quantitative genetic and molecular genetic studies of cognition (1). Strong heritability is shown by g, and neurobiological correlates of g have been identified (1-4). However, molecular studies searching for genetic correlates of g have only found chromosomal regions with very small effects (5), and studies identifying candidate genes often fail to replicate (6). On the other hand, recent studies investigating reading and spoken language, abilities that rely on more specific cognitive and neural mechanisms, have identified major contributing genes (7,8). Thus, at least some specific abilities appear relatively tractable to genetic investigation, and it is plausible that abilities involving fewer cognitive and neural mechanisms may generally depend on fewer genes. However, heritabilities of cognitive traits typically decrease as their relation to g decreases, and few highly heritable specific abilities have been identified (1, 9). We present here an exception to this trend by demonstrating both high heritability and face specificity of face recognition ability, whose well-defined neural basis and established animal models provide promising tools for investigating its genetic basis at the neural level (10).Face recognition is a paradigmatic example of a cognitively and neurally dissociable trait. Psychophysical studies suggest that the cognitive representation of faces relies on different computational processes than other stimuli (11), and neuroimaging has identified occipitotemporal areas in humans and macaques that respond much more strongly to faces than to other stimuli (12). Single-unit recording shows that macaque face patches consist of cells that respond exclusively to faces (13). Consistent with these findings, studies with patients and transcranial magnetic stimulation have demonstrated selective i...
Proper characterization of each individual's unique pattern of strengths and weaknesses requires good measures of diverse abilities. Here, we advocate combining our growing understanding of neural and cognitive mechanisms with modern psychometric methods in a renewed effort to capture human individuality through a consideration of specific abilities. We articulate five criteria for the isolation and measurement of specific abilities, then apply these criteria to face recognition. We cleanly dissociate face recognition from more general visual and verbal recognition. This dissociation stretches across ability as well as disability, suggesting that specific developmental face recognition deficits are a special case of a broader specificity that spans the entire spectrum of human face recognition performance. Item-by-item results from 1,471 web-tested participants, included as supplementary information, fuel item analyses, validation, norming, and item response theory (IRT) analyses of our three tests: (a) the widely used Cambridge Face Memory Test (CFMT); (b) an Abstract Art Memory Test (AAMT), and (c) a Verbal Paired-Associates Memory Test (VPMT). The availability of this data set provides a solid foundation for interpreting future scores on these tests. We argue that the allied fields of experimental psychology, cognitive neuroscience, and vision science could fuel the discovery of additional specific abilities to add to face recognition, thereby providing new perspectives on human individuality.
Visual plasticity peaks during early critical periods of normal visual development. Studies in animals and humans provide converging evidence that gains in visual function are minimal and deficits are most severe when visual deprivation persists beyond the critical period. Here we demonstrate visual development in a unique sample of patients who experienced extended early-onset blindness (beginning before 1 y of age and lasting 8-17 y) before removal of bilateral cataracts. These patients show surprising improvements in contrast sensitivity, an assay of basic spatial vision. We find that contrast sensitivity development is independent of the age of sight onset and that individual rates of improvement can exceed those exhibited by normally developing infants. These results reveal that the visual system can retain considerable plasticity, even after early blindness that extends beyond critical periods.brain plasticity | sensitive periods | sight restoration | visual impairment | childhood blindness
BackgroundPsoriasis is a chronic inflammatory autoimmune skin disorder. Several studies suggested psoriasis to be a complex multifactorial disease, but the exact triggering factor is yet to be determined. Evidences suggest that in addition to genetic factors, epigenetic reprogramming is also involved in psoriasis development. Major histopathological features, like increased proliferation and abnormal differentiation of keratinocytes, and immune cell infiltrations are characteristic marks of psoriatic skin lesions. Following therapy, histopathological features as well as aberrant DNA methylation reversed to normal levels. To understand the role of DNA methylation in regulating these crucial histopathologic features, we investigated the genome-wide DNA methylation profile of psoriasis patients with different histopathological features.ResultsGenome-wide DNA methylation profiling of psoriatic and adjacent normal skin tissues identified several novel differentially methylated regions associated with psoriasis. Differentially methylated CpGs were significantly enriched in several psoriasis susceptibility (PSORS) regions and epigenetically regulated the expression of key pathogenic genes, even with low-CpG promoters. Top differentially methylated genes overlapped with PSORS regions including S100A9, SELENBP1, CARD14, KAZN and PTPN22 showed inverse correlation between methylation and gene expression. We identified differentially methylated genes associated with characteristic histopathological features in psoriasis. Psoriatic skin with Munro’s microabscess, a distinctive feature in psoriasis including parakeratosis and neutrophil accumulation at the stratum corneum, was enriched with differentially methylated genes involved in neutrophil chemotaxis. Rete peg elongation and focal hypergranulosis were also associated with epigenetically regulated genes, supporting the reversible nature of these characteristic features during remission and relapse of the lesions.ConclusionOur study, for the first time, indicated the possible involvement of DNA methylation in regulating the cardinal pathophysiological features in psoriasis. Common genes involved in regulation of these pathologies may be used to develop drugs for better clinical management of psoriasis.Electronic supplementary materialThe online version of this article (10.1186/s13148-018-0541-9) contains supplementary material, which is available to authorized users.
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