In human language the mapping between form and meaning is arbitrary, as there is no direct connection between words and the objects that they represent. However, within a given language, it is ...possible to recognise systematic associations that support productivity and comprehension. In this work, we focus on the consistency between orthographic forms and meaning, and we investigate how the cognitive system may exploit it to process words. We take morphology as our case study, since it arguably represents one of the most notable examples of systematicity in form–meaning mapping. In a series of three experiments, we investigate the impact of form–meaning mapping in word processing by testing new consistency metrics as predictors of priming magnitude in primed lexical decision. In Experiment 1, we re-analyse data from five masked morphological priming studies and show that orthography–semantics–consistency explains independent variance in priming magnitude, suggesting that word semantics is accessed already at early stages of word processing and that crucially semantic access is constrained by word orthography. In Experiments 2 and 3, we investigate whether this pattern is replicated when looking at semantic priming. In Experiment 2, we show that orthography–semantics–consistency is not a viable predictor of priming magnitude with longer stimulus onset asynchrony (SOA). However, in Experiment 3, we develop a new semantic consistency measure based on the semantic density of target neighbourhoods. This measure is shown to significantly predict independent variance in semantic priming effect. Overall, our results indicate that consistency measures provide crucial information for the understanding of word processing. Specifically, the dissociation between measures and priming paradigms shows that different priming conditions are associated with the activation of different semantic cohorts.
BACKGROUND:Long QT syndrome (LQTS) is the first described and most common inherited arrhythmia. Over the last 25 years, multiple genes have been reported to cause this condition and are routinely ...tested in patients. Because of dramatic changes in our understanding of human genetic variation, reappraisal of reported genetic causes for LQTS is required.
METHODS:Utilizing an evidence-based framework, 3 gene curation teams blinded to each other’s work scored the level of evidence for 17 genes reported to cause LQTS. A Clinical Domain Channelopathy Working Group provided a final classification of these genes for causation of LQTS after assessment of the evidence scored by the independent curation teams.
RESULTS:Of 17 genes reported as being causative for LQTS, 9 (AKAP9, ANK2, CAV3, KCNE1, KCNE2, KCNJ2, KCNJ5, SCN4B, SNTA1) were classified as having limited or disputed evidence as LQTS-causative genes. Only 3 genes (KCNQ1, KCNH2, SCN5A) were curated as definitive genes for typical LQTS. Another 4 genes (CALM1, CALM2, CALM3, TRDN) were found to have strong or definitive evidence for causality in LQTS with atypical features, including neonatal atrioventricular block. The remaining gene (CACNA1C) had moderate level evidence for causing LQTS.
CONCLUSIONS:More than half of the genes reported as causing LQTS have limited or disputed evidence to support their disease causation. Genetic variants in these genes should not be used for clinical decision-making, unless accompanied by new and sufficient genetic evidence. The findings of insufficient evidence to support gene-disease associations may extend to other disciplines of medicine and warrants a contemporary evidence-based evaluation for previously reported disease-causing genes to ensure their appropriate use in precision medicine.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to ...cause these conditions, but evidence supporting these gene-disease relationships varies considerably. To ensure appropriate utilization of genetic information for CPVT and SQTS patients, we applied an evidence-based reappraisal of previously reported genes.
Three teams independently curated all published evidence for 11 CPVT and 9 SQTS implicated genes using the ClinGen gene curation framework. The results were reviewed by a Channelopathy Expert Panel who provided the final classifications. Seven genes had definitive to moderate evidence for disease causation in CPVT, with either autosomal dominant (RYR2, CALM1, CALM2, CALM3) or autosomal recessive (CASQ2, TRDN, TECRL) inheritance. Three of the four disputed genes for CPVT (KCNJ2, PKP2, SCN5A) were deemed by the Expert Panel to be reported for phenotypes that were not representative of CPVT, while reported variants in a fourth gene (ANK2) were too common in the population to be disease-causing. For SQTS, only one gene (KCNH2) was classified as definitive, with three others (KCNQ1, KCNJ2, SLC4A3) having strong to moderate evidence. The majority of genetic evidence for SQTS genes was derived from very few variants (five in KCNJ2, two in KCNH2, one in KCNQ1/SLC4A3).
Seven CPVT and four SQTS genes have valid evidence for disease causation and should be included in genetic testing panels. Additional genes associated with conditions that may mimic clinical features of CPVT/SQTS have potential utility for differential diagnosis.
A largely overlooked side effect in most studies of morphological priming is a consistent main effect of semantic transparency across priming conditions. That is, participants are faster at ...recognizing stems from transparent sets (e.g., farm) in comparison to stems from opaque sets (e.g., fruit), regardless of the preceding primes. This suggests that semantic transparency may also be consistently associated with some property of the stem word. We propose that this property might be traced back to the consistency, throughout the lexicon, between the orthographic form of a word and its meaning, here named Orthography-Semantics Consistency (OSC), and that an imbalance in OSC scores might explain the "stem transparency" effect. We exploited distributional semantic models to quantitatively characterize OSC, and tested its effect on visual word identification relying on large-scale data taken from the British Lexicon Project (BLP). Results indicated that (a) the "stem transparency" effect is solid and reliable, insofar as it holds in BLP lexical decision times (Experiment 1); (b) an imbalance in terms of OSC can account for it (Experiment 2); and (c) more generally, OSC explains variance in a large item sample from the BLP, proving to be an effective predictor in visual word access (Experiment 3).
Scientific studies of language behavior need to grapple with a large diversity of languages in the world and, for reading, a further variability in writing systems. Yet, the ability to form ...meaningful theories of reading is contingent on the availability of cross-linguistic behavioral data. This paper offers new insights into aspects of reading behavior that are shared and those that vary systematically across languages through an investigation of eye-tracking data from 13 languages recorded during text reading. We begin with reporting a bibliometric analysis of eye-tracking studies showing that the current empirical base is insufficient for cross-linguistic comparisons. We respond to this empirical lacuna by presenting the Multilingual Eye-Movement Corpus (MECO), the product of an international multi-lab collaboration. We examine which behavioral indices differentiate between reading in written languages, and which measures are stable across languages. One of the findings is that readers of different languages vary considerably in their skipping rate (i.e., the likelihood of not fixating on a word even once) and that this variability is explained by cross-linguistic differences in word length distributions. In contrast, if readers do not skip a word, they tend to spend a similar average time viewing it. We outline the implications of these findings for theories of reading. We also describe prospective uses of the publicly available MECO data, and its further development plans.
Abstract In this study, our objective was to explore the impact of hearing loss on the conceptual system underlying word meaning. We collected perceptual strength norms for 200 Italian words from ...early deaf individuals with limited or no access to auditory information and compared them to existing norms from hearing individuals. For each word, participants provided perceptual strength ratings for each perceptual modality. Our results revealed a significant reduction of the auditory modality in the norms provided by deaf individuals compared to the hearing population. However, we did not observe an overall decrease in reported perceptual strength. Interestingly, we found a heightened involvement of other sensory modalities accompanied by reduced modality exclusivity in the conceptualization of words, indicating that deaf individuals heavily rely on information coming from the other perceptual modalities to form concepts. These findings suggest that hearing loss leads to a reorganisation of word conceptualization, characterised by increased multisensoriality. Importantly, although diminished, the auditory modality remains present, suggesting that deaf individuals can still infer auditory-associated knowledge about words to some extent.
Research into second language (L2) reading is an exponentially growing field. Yet, it still has a relatively short supply of comparable, ecologically valid data from readers representing a variety of ...first languages (L1). This article addresses this need by presenting a new data resource called MECO L2 (Multilingual Eye Movements Corpus), a rich behavioral eye-tracking record of text reading in English as an L2 among 543 university student speakers of 12 different L1s. MECO L2 includes a test battery of component skills of reading and allows for a comparison of the participants’ reading performance in their L1 and L2. This data resource enables innovative large-scale cross-sample analyses of predictors of L2 reading fluency and comprehension. We first introduce the design and structure of the MECO L2 resource, along with reliability estimates and basic descriptive analyses. Then, we illustrate the utility of MECO L2 by quantifying contributions of four sources to variability in L2 reading proficiency proposed in prior literature: reading fluency and comprehension in L1, proficiency in L2 component skills of reading, extralinguistic factors, and the L1 of the readers. Major findings included (a) a fundamental contrast between the determinants of L2 reading fluency versus comprehension accuracy, and (b) high within-participant consistency in the real-time strategy of reading in L1 and L2. We conclude by reviewing the implications of these findings to theories of L2 acquisition and outline further directions in which the new data resource may support L2 reading research.
Orthography–semantics consistency (OSC) is a measure that quantifies the degree of semantic relatedness between a word and its orthographic relatives. OSC is computed as the frequency-weighted ...average semantic similarity between the meaning of a given word and the meanings of all the words containing that very same orthographic string, as captured by distributional semantic models. We present a resource including optimized estimates of OSC for 15,017 English words. In a series of analyses, we provide a progressive optimization of the OSC variable. We show that computing OSC from word-embeddings models (in place of traditional count models), limiting preprocessing of the corpus used for inducing semantic vectors (in particular, avoiding part-of-speech tagging and lemmatization), and relying on a wider pool of orthographic relatives provide better performance for the measure in a lexical-processing task. We further show that OSC is an important and significant predictor of reaction times in visual word recognition and word naming, one that correlates only weakly with other psycholinguistic variables (e.g., family size, word frequency), indicating that it captures a novel source of variance in lexical access. Finally, some theoretical and methodological implications are discussed of adopting OSC as one of the predictors of reaction times in studies of visual word recognition.
Model building is typically based on the identification of a set of established facts in any given field of research, insofar as the model is then evaluated on how well it accounts for these facts. ...Psychology – and specifically visual word identification and reading – is no exception in this sense (e.g., Amenta & Crepaldi, 2012; Coltheart et al., 2001; Grainger & Jacobs, 1996). What counts as an established fact, however, was never discussed in great detail. It was typically considered, for example, that experimental effects need to replicate across, e.g., individuals, experimental settings, and languages if they are to be believed. The emphasis was on consistency, perhaps under a tacit assumption that the universal principles lying behind our cognitive structures determine our behaviour for the most part (or at least for that part that is relevant for model building). There are signs that a different approach is growing up in reading research. On a theoretical ground, Dennis Norris’ Bayesian reader (2006, 2009) has advanced the idea that models can dispense of static forms of representation (i.e., fixed architectures), and process information in a way that is dynamically constrained by context-specific requirements. Ram Frost (2012) has focused on language-specific constraints in the development of general theories of reading. On an empirical ground, the most notable recent advance in visual word identification concern the demonstration that some previously established (in the classic sense) effects depend heavily on language (Velan and Frost, 2011), task (e.g., Duñabeitia et al., 2011; Marelli et al., 2013; Kinoshita and Norris, 2009), or even individual differences (Andrews & Lo, 2012, 2013). Variability has become an intrinsic and informative aspect of cognitive processing, rather than a sign of experimental weakness. This Research Topic aims at moving forward in this new direction by providing an outlet for experimental and theoretical papers that: (i) explore more in depth the theoretical basis for considering variability as an intrinsic property of the human cognitive system; (ii) highlight new context-dependent experimental effects, in a way that is informative on the dynamics of the underlying cognitive processing; (iii) shed new light on known context-dependent experimental effects, again in a way that enhances their theoretical informativeness.
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