Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer ...syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome. Their inheritance is autosomal dominant with incomplete penetrance and one of the main genes responsible for these syndromes is FGFR2, mapped on chromosome 10, encoding fibroblast growth factor receptor 2. We report an FGFR2 gene variant in a mother and daughter who present with different clinical features of Crouzon syndrome. The daughter is more severely affected than her mother, as also verified by a careful study of the face and oral cavity. The c.1032G>A transition in exon 8, already reported as a synonymous p.Ala344 = variant in Crouzon patients, also activates a new donor splice site leading to the loss of 51 nucleotides and the in-frame removal of 17 amino acids. We observed lower FGFR2 transcriptional and translational levels in the daughter compared to the mother and healthy controls. A preliminary functional assay and a molecular modeling added further details to explain the discordant phenotype of the two patients.
Abstract
In language and second language acquisition research, it is important to have a measure for tracking the proficiency level of participants. Lexical competence is fundamental for ...communicative purposes in a given language, and vocabulary tests are a reliable measure to assess lexical proficiency. That is why vocabulary tests have a central role in language proficiency assessment. Although many people study Italian as second language (L2), an easy-to-use vocabulary test to measure lexical proficiency is still missing. In this work, we aim to fill this gap by presenting LexITA, which is an objective, reliable, and quick assessment of Italian receptive vocabulary. LextITA was validated on students of Italian L2 and showed to be a valid measure to assess vocabulary knowledge of L2 speakers spanning different levels of proficiency.
In the present study, the role of phonological information in visual word recognition is investigated by adopting a large-scale data-driven approach that exploits a new consistency measure based on ...distributional semantics methods. A recent study by Marelli, Amenta, and Crepaldi (
2015
) showed that the consistency between an orthographic string and the meanings to which it is associated in a large corpus is a relevant predictor in lexical decision experiments. Exploiting irregular mappings between orthography and phonology in English, we were able to compute a phonology-to-semantics consistency measure that dissociates from its orthographic counterpart and tested both measures on lexical decision data taken from the British Lexicon Project (Keuleers et al.,
2012
). Results showed that both orthography and phonology are activated during visual word recognition. However, their contribution is crucially determined by the extent to which they are informative of the word semantics, and phonology plays a crucial role in accessing word meaning.
In this eye-tracking study, we investigated how semantics inform morphological analysis at the early stages of visual word identification in sentence reading. We exploited a feature of several ...derived Italian words, that is, that they can be read in a "morphologically transparent" way or in a "morphologically opaque" way according to the sentence context to which they belong. This way, each target word was embedded in a sentence eliciting either its transparent or opaque interpretation. We analyzed whether the effect of stem frequency changes according to whether the (very same) word is read as a genuine derivation (transparent context) versus as a pseudoderived word (opaque context). Analysis of the first fixation durations revealed a stem-word frequency effect in both opaque and transparent contexts, thus showing that stems were accessed whether or not they contributed to word meaning, that is, word decomposition is indeed blind to semantics. However, while the stem-word frequency effect was facilitatory in the transparent context, it was inhibitory in the opaque context, thus showing an early involvement of semantic representations. This pattern of data is revealed by words with short suffixes. These results indicate that derived and pseudoderived words are segmented into their constituent morphemes also in natural reading; however, this blind-to-semantics process activates morpheme representations that are semantically connoted.
The mental time line (MTL) is a spatial continuum on which earlier events are generally associated with the left space and later events with the right space. Accordingly, past- and future-related ...words receive faster responses with, respectively, the left and the right hand. Yet, it is currently unclear whether the MTL is activated by the whole word or whether it can be triggered by more subtle sublexical cues, such as verb-endings, and whether the activation of this spatial continuum is an automatic phenomenon. The aim of this study is to test whether verb-endings do bring conceptual information that is in turn capable to activate the MTL and whether this activation holds also when the temporal information is not explicitly processed. We designed three experiments. In Experiment 1, consisting of a temporal categorization task, and in Experiment 2, consisting of a lexical decision task, we tested Italian tensed verbs (trov-avo "I found," trov-erò "I will find") and pseudo-verbs (trop-avo, trop-erò). Results of Experiment 1 showed that both tensed verbs and pseudo-verbs were spatially coded on the MTL. Results from Experiment 2 showed that the MTL is activated by the verb-endings also when temporal information was task-irrelevant (i.e., lexical decision task). Experiment 3 further clarified that the spatial-temporal congruency effect does not emerge during the evaluation of an inhomogeneous set of stimuli (i.e., when adding to the stimuli time-unrelated fillers). Overall, the present findings indicate that sublexical strings carry specific semantic information that comes into play in the generation of spatial-temporal associations. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
The last 40 years have witnessed a growing interest in the mechanisms underlying the visual identification of complex words. A large amount of experimental data has been amassed, but although a ...growing number of studies are proposing explicit theoretical models for their data, no comprehensive theory has gained substantial agreement among scholars in the field. We believe that this is due, at least in part, to the presence of several controversial pieces of evidence in the literature and, consequently, to the lack of a well-defined set of experimental facts that any theory should be able to explain. With this review, we aim to delineate the state of the art in the research on the visual identification of complex words. By reviewing major empirical evidences in a number of different paradigms such as lexical decision, word naming, and masked and unmasked priming, we were able to identify a series of effects that we judge as reliable or that were consistently replicated in different experiments, along with some more controversial data, which we have tried to resolve and explain. We concentrated on behavioral and electrophysiological studies on inflected, derived, and compound words, so as to span over all types of complex words. The outcome of this work is an analytical summary of well-established facts on the most relevant morphological issues, such as regularity, morpheme position coding, family size, semantic transparency, morpheme frequency, suffix allomorphy, and productivity, morphological entropy, and morpho-orthographic parsing. In discussing this set of benchmark effects, we have drawn some methodological considerations on why contrasting evidence might have emerged, and have tried to delineate a target list for the construction of a new all-inclusive model of the visual identification of morphologically complex words.
A key issue in language processing is how we recognize and understand words in sentences. Research on sentence reading indicates that the time we need to read a word depends on how (un)expected it ...is. Research on single word recognition shows that each word also has its own recognition dynamics based on the relation between its orthographic form and its meaning. It is not clear, however, how these sentence-level and word-level dynamics interact. In the present study, we examine the joint impact of these sources of information during sentence reading. We analyze existing eye-tracking and self-paced reading data (Frank et al.,
2013
,
Behavior Research Methods, 45
4, 1182–1190) to investigate the interplay of sentence-level prediction (operationalized as Surprisal) and word Orthography-Semantics Consistency in activating word meaning in sentence processing. Results indicate that both Surprisal and Orthography-Semantics Consistency exert an influence on several reading measures. The shape of the observed interaction differs, but the results give compelling indication for a general trade-off between expectations based on sentence context and cues to meaning from word orthography.
Abstract
We release a database of cloze probability values, predictability ratings, and computational estimates for a sample of 205 English sentences (1726 words), aligned with previously released ...word-by-word reading time data (both self-paced reading and eye-movement records; Frank et al.,
Behavior Research Methods
,
45
(4), 1182–1190. 2013) and EEG responses (Frank et al.,
Brain and Language
,
140
, 1–11. 2015). Our analyses show that predictability ratings are the best predictors of the EEG signal (N400, P600, LAN) self-paced reading times, and eye movement patterns, when spillover effects are taken into account. The computational estimates are particularly effective at explaining variance in the eye-tracking data without spillover. Cloze probability estimates have decent overall psychometric accuracy and are the best predictors of early fixation patterns (first fixation duration). Our results indicate that the choice of the best measurement of word predictability in context critically depends on the processing index being considered.
We used a large-scale data-driven approach to investigate the role of word form in accessing semantics. By using distributional semantic methods and taking advantage of an ERP lexical decision ...mega-study, we investigated the exact time dynamic of semantic access from printed words as driven by orthography-semantics consistency (OSC) and phonology-semantics consistency (PSC). Generalized Additive Models revealed very early and late OSC-by-PSC interactions, visible at 100 and 400 msec, respectively. This pattern suggests that, during visual word recognition: a) meaning is accessed by means of two distinct and interactive paths – the orthography-to-meaning and the orthography-to-phonology-to-meaning path –, which mutually contribute to recognition since early stages; b) the system may exploit a dual mechanism for semantic access, with early and late effects associated to a fast-coarse and a slow-fine grained semantic analysis, respectively. The results also highlight the high sensitivity of the visual word recognition system to arbitrary form-meaning relations.
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