Publications

Abstract

Readers tend to skip words, particularly when they are short, frequent, or predictable. Angele and Rayner (2013) recently reported that readers are often unable to detect syntactic anomalies in parafoveal vision. In the present study, we manipulated target word predictability to assess whether contextual constraint modulates the-skipping behavior. The results provide further evidence that readers frequently skip the article the when infelicitous in context. Readers skipped predictable words more often than unpredictable words, even when the, which was syntactically illegal and unpredictable from the prior context, was presented as a parafoveal preview. The results of the experiment were simulated using E-Z Reader 10 by assuming that cloze probability can be dissociated from parafoveal visual input. It appears that when a short word is predictable in context, a decision to skip it can be made even if the information available parafoveally conflicts both visually and syntactically with those predictions.

Abstract

On seeing familiar persons, biographical (semantic) information is typically retrieved faster and more accurately than name information. Serial stage models explain this pattern by suggesting that access to the name follows the retrieval of semantic information. In contrast, interactive activation and competition (IAC) models hold that both processes start together but name retrieval is slower because of structural peculiarities. With a 2-choice go/no-go procedure based on a semantic and a name-related classification, the authors tested differential predictions of the 2 alternative models for reaction times (RTs) and lateralized readiness potentials (LRP). Both LRP (Experiment 1) and RT (Experiment 2) results are in line with IAC models of face identification and naming.

Abstract

The relationship between print exposure and measures of reading skill was examined in college students (N=99, 58 female; mean age=20.3 years). Print exposure was measured with several new self-reports of reading and writing habits, as well as updated versions of the Author Recognition Test and the Magazine Recognition Test (Stanovich & West, 1989). Participants completed a sentence comprehension task with syntactically complex sentences, and reading times and comprehension accuracy were measured. An additional measure of reading skill was provided by participants’ scores on the verbal portions of the ACT, a standardized achievement test. Higher levels of print exposure were associated with higher sentence processing abilities and superior verbal ACT performance. The relative merits of different print exposure assessments are discussed.

Abstract

This study aimed first to determine whether there is a delay associated with processing words in an unfamiliar regional accent compared to words in a familiar regional accent, and second to establish whether short-term exposure to an unfamiliar accent affects the speed and accuracy of comprehension of words spoken in that accent. Listeners performed an animacy decision task for words spoken in their own and in an unfamiliar accent. Next, they were exposed to approximately 20 minutes of speech in one of these two accents. After exposure, they repeated the animacy decision task. Results showed a considerable delay in word processing for the unfamiliar accent, but no effect of short-term exposure.

Abstract

The development of emotions in the offspring of any species, especially humans, is one of the most important and complex processes necessary to ensure their survival. Although other nonverbal expressions of emotion such as body movements provide valuable clues, facial expressions in human infants are arguably the most crucial component in tracking emotional responses. Tracing the developmental path of facial expressions is thus the aim of this longitudinal research study which explores mother-child interactions from infancy to pre-school in Indian culture via video-taped datasets recorded as part of multiple projects spanning Indian universities (IITD, JNU, DU), Osnabruck University and MPI-Netherlands.

Abstract

Gestational diabetes, obesity, and excessive weight gain are known independent risk factors for the birth of a large for gestational age (LGA) infant. However, only 1 of the 10 infants born LGA is born by mothers with diabetes or obesity. Thus, the aim of the present study was to compare placental gene expression between healthy, nondiabetic mothers (n = 22) giving birth to LGA infants and body mass index-matched mothers (n = 24) giving birth to appropriate for gestational age infants. In the whole gene expression analysis, only 29 genes were found to be differently expressed in LGA placentas. Top upregulated genes included insulin-like growth factor binding protein 1, aminolevulinate δ synthase 2, and prolactin, whereas top downregulated genes comprised leptin, gametocyte-specific factor 1, and collagen type XVII α 1. Two enriched gene networks were identified, namely, (1) lipid metabolism, small molecule biochemistry, and organismal development and (2) cellular development, cellular growth, proliferation, and tumor morphology.

Abstract

Ferrer-i-Cancho (this volume) presents a mathematical model of both the synchronic and diachronic nature of word order based on the assumption that memory costs are a never decreasing function of distance and a few very general linguistic assumptions. However, even these minimal and seemingly obvious assumptions are not as safe as they appear in light of recent typological and psycholinguistic evidence. The interaction of word order and memory has further depths to be explored.

Abstract

It has been suggested that, during real time language comprehension, the human language processing system attempts to identify the argument primarily responsible for the state of affairs (the “actor”) as quickly and unambiguously as possible. However, previous work on a prominence (e.g. animacy, definiteness, case marking) based heuristic for actor identification has suffered from underspecification of the relationship between different cue hierarchies. Qualitative work has yielded a partial ordering of many features (e.g. MacWhinney et al. 1984), but a precise quantification has remained elusive due to difficulties in exploring the full feature space in a particular language. Feature pairs tend to correlate strongly in individual languages for semantic-pragmatic reasons (e.g., animate arguments tend to be actors and actors tend to be morphosyntactically privileged), and it is thus difficult to create acceptable stimuli for a fully factorial design even for binary features. Moreover, the exponential function grows extremely rapidly and a fully crossed factorial design covering the entire feature space would be prohibitively long for a purely within-subjects design. Here, we demonstrate the feasibility of parameter estimation in a short experiment. We are able to estimate parameters at a single subject level for the parameters animacy, case and number. This opens the door for research into individual differences and population variation. Moreover, the framework we introduce here can be used in the field to measure more “exotic” languages and populations, even with small sample sizes. Finally, pooled single-subject results are used to reduce the number of free parameters in previous work based on the extended Argument Dependency Model (Bornkessel-Schlesewsky and Schlesewsky 2006, 2009, 2013, in press; Alday et al. 2014).

Abstract

We hypothesized that areas in the temporal lobe that have been implicated in the phonological processing of spoken words would also be activated during the generation and phonological processing of imagined speech. We tested this hypothesis using functional magnetic resonance imaging during a behaviorally controlled task of metrical stress evaluation. Subjects were presented with bisyllabic words and had to determine the alternation of strong and weak syllables. Thus, they were required to discriminate between weak-initial words and strong-initial words. In one condition, the stimuli were presented auditorily to the subjects (by headphones). In the other condition the stimuli were presented visually on a screen and subjects were asked to imagine hearing the word. Results showed activation of the supplementary motor area, inferior frontal gyrus (Broca's area) and insula in both conditions. In the superior temporal gyrus (STG) and in the superior temporal sulcus (STS) strong activation was observed during the auditory (perceptual) condition. However, a region located in the posterior part of the STS/STG also responded during the imagery condition. No activation of this same region of the STS was observed during a control condition which also involved processing of visually presented words, but which required a semantic decision from the subject. We suggest that processing of metrical stress, with or without auditory input, relies in part on cortical interface systems located in the posterior part of STS/STG. These results corroborate behavioral evidence regarding phonological loop involvement in auditory–verbal imagery.

Abstract

One of the challenges that infants have to solve when learn- ing their native language is to identify the words in a con- tinuous speech stream. Some of the experiments in Artificial Grammar Learning (Saffran, Newport, and Aslin (1996); Saf- fran, Aslin, and Newport (1996); Aslin, Saffran, and Newport (1998) and many more) investigate this ability. In these ex- periments, subjects are exposed to an artificial speech stream that contains certain regularities. Adult participants are typ- ically tested with 2-alternative Forced Choice Tests (2AFC) in which they have to choose between a word and another sequence (typically a partword, a sequence resulting from misplacing boundaries).

Abstract

The present paper assesses discourse-pragmatic factors as a potential explanation for the subject-object assymetry in early child language. It identifies a set of factors which characterize typical situations of informativeness (Greenfield & Smith, 1976), and uses these factors to identify informative arguments in data from four children aged 2;0 through 3;6 learning Inuktitut as a first language. In addition, it assesses the extent of the links between features of informativeness on one hand and lexical vs. null and subject vs. object arguments on the other. Results suggest that a pragmatics account of the subject-object asymmetry can be upheld to a greater extent than previous research indicates, and that several of the factors characterizing informativeness are good indicators of those arguments which tend to be omitted in early child language.

Abstract

Different languages map semantic elements of spatial relations onto different lexical and syntactic units. These crosslinguistic differences raise important questions for language development in terms of how this variation is learned by children. We investigated how Turkish-, English-, and Japanese-speaking children (mean age 3;8) package the semantic elements of Manner and Path onto syntactic units when both the Manner and the Path of the moving Figure occur simultaneously and are salient in the event depicted. Both universal and language-specific patterns were evident in our data. Children used the semantic-syntactic mappings preferred by adult speakers of their own languages, and even expressed subtle syntactic differences that encode different relations between Manner and Path in the same way as their adult counterparts (i.e., Manner causing vs. incidental to Path). However, not all types of semantics-syntax mappings were easy for children to learn (e.g., expressing Manner and Path elements in two verbal clauses). In such cases, Turkish- and Japanese-speaking children frequently used syntactic patterns that were not typical in the target language but were similar to patterns used by English-speaking children, suggesting some universal influence. Thus, both language-specific and universal tendencies guide the development of complex spatial expressions.

Abstract

Our target paper argued for the ubiquity of frequency effects in acquisition, and that any comprehensive theory must take into account the multiplicity of ways that frequently occurring and co-occurring linguistic units affect the acquisition process. The commentaries on the paper provide a largely unanimous endorsement of this position, but raise additional issues likely to frame further discussion and theoretical development. Specifically, while most commentators did not deny the importance of frequency effects, all saw this as the tip of the theoretical iceberg. In this short response we discuss common themes raised in the commentaries, focusing on the broader issue of what frequency effects mean for language acquisition.

Abstract

According to Crain and Nakayama (1987), when forming complex yes/no questions, children do not make errors such as Is the boy who smoking is crazy? because they have innate knowledge of structure dependence and so will not move the auxiliary from the relative clause. However, simple recurrent networks are also able to avoid such errors, on the basis of surface distributional properties of the input (Lewis & Elman, 2001; Reali & Christiansen, 2005). Two new elicited production studies revealed that (a) children occasionally produce structure-dependence errors and (b) the pattern of children's auxiliary-doubling errors (Is the boy who is smoking is crazy?) suggests a sensitivity to surface co-occurrence patterns in the input. This article concludes that current data do not provide any support for the claim that structure dependence is an innate constraint, and that it is possible that children form a structure-dependent grammar on the basis of exposure to input that exhibits this property.

Abstract

Participants (aged 5–6 yrs, 9–10 yrs and adults) rated (using a five-point scale) grammatical (intransitive) and overgeneralized (transitive causative)1 uses of a high frequency, low frequency and novel intransitive verb from each of three semantic classes [Pinker, S. (1989a). Learnability and cognition: the acquisition of argument structure. Cambridge, MA: MIT Press]: “directed motion” (fall, tumble), “going out of existence” (disappear, vanish) and “semivoluntary expression of emotion” (laugh, giggle). In support of Pinker’s semantic verb class hypothesis, participants’ preference for grammatical over overgeneralized uses of novel (and English) verbs increased between 5–6 yrs and 9–10 yrs, and was greatest for the latter class, which is associated with the lowest degree of direct external causation (the prototypical meaning of the transitive causative construction). In support of Braine and Brooks’s [Braine, M.D.S., & Brooks, P.J. (1995). Verb argument strucure and the problem of avoiding an overgeneral grammar. In M. Tomasello & W. E. Merriman (Eds.), Beyond names for things: Young children’s acquisition of verbs (pp. 352–376). Hillsdale, NJ: Erlbaum] entrenchment hypothesis, all participants showed the greatest preference for grammatical over ungrammatical uses of high frequency verbs, with this preference smaller for low frequency verbs, and smaller again for novel verbs. We conclude that both the formation of semantic verb classes and entrenchment play a role in children’s retreat from argument-structure overgeneralization errors.

Abstract

Participants aged 5;2-6;8, 9;2-10;6 and 18;1-22;2 (72 at each age) rated verb argument structure overgeneralization errors (e.g., *Daddy giggled the baby) using a five-point scale. The study was designed to investigate the feasibility of two proposed construction-general solutions to the question of how children retreat from, or avoid, such errors. No support was found for the prediction of the preemption hypothesis that the greater the frequency of the verb in the single most nearly synonymous construction (for this example, the periphrastic causative; e.g., Daddy made the baby giggle), the lower the acceptability of the error. Support was found, however, for the prediction of the entrenchment hypothesis that the greater the overall frequency of the verb, regardless of construction, the lower the acceptability of the error, at least for the two older groups. Thus while entrenchment appears to be a robust solution to the problem of the retreat from error, and one that generalizes across different error types, we did not find evidence that this is the case for preemption. The implication is that the solution to the retreat from error lies not with specialized mechanisms, but rather in a probabilistic process of construction competition.

Abstract

This review article presents evidence for the claim that frequency effects are pervasive in children's first language acquisition, and hence constitute a phenomenon that any successful account must explain. The article is organized around four key domains of research: children's acquisition of single words, inflectional morphology, simple syntactic constructions, and more advanced constructions. In presenting this evidence, we develop five theses. (i) There exist different types of frequency effect, from effects at the level of concrete lexical strings to effects at the level of abstract cues to thematic-role assignment, as well as effects of both token and type, and absolute and relative, frequency. High-frequency forms are (ii) early acquired and (iii) prevent errors in contexts where they are the target, but also (iv) cause errors in contexts in which a competing lower-frequency form is the target. (v) Frequency effects interact with other factors (e.g. serial position, utterance length), and the patterning of these interactions is generally informative with regard to the nature of the learning mechanism. We conclude by arguing that any successful account of language acquisition, from whatever theoretical standpoint, must be frequency sensitive to the extent that it can explain the effects documented in this review, and outline some types of account that do and do not meet this criterion.

Abstract

This article examines the grammar, use and meaning of fifteen verbs used in the Basic Locative Construction (BLC) of Likpe — a Ghana-Togo-Mountain language. The verbs fall into four semantic subclasses: (a) basic topological relations: t 'be.at', tk 'be.on', kpé 'be.in', and fi 'be.near'; (b) postural verbs: sí 'sit', ny 'stand', fáka 'hang', yóma 'hang', kps 'lean', fus 'squat', and labe 'lie'; (c) “distribution” verbs: kpó 'be spread, heaped,' and tí 'be covered'; and (d) “adhesion” verbs: má 'be griped, be fixed', mánkla 'be stuck to'. Likpe locative predications reflect an ontological commitment to the overall topological relation between Figure and Ground and are not focused just on the Figure or the Ground. Various factors determine the choice of “competing” verbs for particular scenarios: animacy, nonindividuation of the Figure, permanency of the configuration and the speaker's desire to be referentially precise or to present stereotypical information. It is demonstrated that in situations where there is a choice, speakers tend to use the more general verbs (stereotype information). The implications of this tendency for the development of a language from a multiverb language using several verbs (e.g., 15) in its BLC to using only a small-set of verbs in its BLC, just as some of Likpe's neighbors have done, are considered.

Abstract

This special issue is devoted to a relatively neglected topic in linguistics, namely the verbal component of locative statements. English tends, of course, to use a simple copula in utterances like “The cup is on the table”, but many languages, perhaps as many as half of the world's languages, have a set of alternate verbs, or alternate verbal affixes, which contrast in this slot. Often these are classificatory verbs of ‘sitting’, ‘standing’ and ‘lying’. For this reason, perhaps, Aristotle listed position among his basic (“noncomposite”) categories.

Abstract

This book explores the thesis that in the Kwa languages of West Africa, aspect and modality are more central to the grammar of the verb than tense. Where tense marking has emerged it is invariably in the expression of the future, and therefore concerned with the impending actualization or potentiality of an event, hence with modality, rather than the purely temporal sequencing associated with tense. The primary grammatical contrasts are perfective versus imperfective. The main languages discussed are Akan, Dangme, Ewe, Ga and Tuwuli while Nzema-Ahanta, Likpe and Eastern Gbe are also mentioned. Knowledge about these languages has deepened considerably during the past decade or so and ideas about their structure have changed. The volume therefore presents novel analyses of grammatical forms like the so-called S-Aux-O-V-Other or “future” constructions, and provides empirical data for theorizing about aspect and modality. It should be of considerable interest to Africanist linguists, typologists, and creolists interested in substrate issues.

Abstract

Different languages present a variety of ways of talking about emotional experience. Very commonly, feelings are described through the use of ‘body image constructions’ in which they are associated with processes in, or states of, specific body parts. The emotions and the body parts that are thought to be their locus and the kind of activity associated with these body parts vary cross-culturally. This study focuses on the meaning of three ‘body image constructions’ used to describe feelings similar to, but also different from, English ‘jealousy’, ‘envy’, and ‘covetousness’ in the West African language Ewe. It is demonstrated that a ‘moving body’, a pychologised eye, and red eyes are scripted for these feelings. It is argued that the expressions are not figurative and that their semantics provide good clues to understanding the cultural construction of emotions both emotions and the body.

Abstract

Ewe verbs covering the cutting and breaking domain divide into four morpho-syntactic classes that can be ranked according to agentivity. We demonstrate that the highly non-agentive break verbs participate in the causative-inchoative alternation while the highly agentive cut verbs do not, as expected from Guerssel et al.'s (1985) hypothesis. However, four verbs tso 'cut with precision', 'cut', 'snap-off', and dze 'split', are used transitively when an instrument is required for the severance to be effected, and intransitively when not. We reject a lexicalist analysis that would postulate polysemy for these verbs and argue for a construction approach.

Abstract

This paper examines some of the claims of the Unaccusativity hypothesis.It shows that the supposedly unaccusative ‘die’ verb in Ewe (Kwa), kú can appear as both a one-place and a two-place predicate and has three senses which do not correlate with the number of surface arguments of the verb. For instance, the same sense is involved in both a one-place construction (e.g. she died) and a two-place cognate object construction (she died a wicked death). By contrast, different senses are expressed by formally identical two-place constructions, e.g. ‘the garment die dirt’ (= the garment is dead dirty; intensity) vs., ‘he died ear (to the matter)’ (=he does not want to hear; negative desiderative). The paper explores the learnability problems posed by the non-predictability of the different senses of Ewe ‘die’ from its syntactic frame and suggests that since the meanings are indirectly related to the properties of the event participants, such as animacy, a learner must pay close attention to the properties of the verb’s participants. The paper concludes by demonstrating that the meaning shifts observed in Ewe are also attested in other typologically and genetically unrelated languages such as Japanese, Arrernte (Australian), Oluta (Mixean), Dutch and English.

Abstract

This special issue is devoted to a relatively neglected topic in linguistics, namely the verbal component of locative statements. English tends, of course, to use a simple copula in utterances like “The cup is on the table”, but many languages, perhaps as many as half of the world's languages, have a set of alternate verbs, or alternate verbal affixes, which contrast in this slot. Often these are classificatory verbs of 'sitting', 'standing' and 'lying'. For this reason, perhaps, Aristotle listed position among his basic (“noncomposite”) categories.

Abstract

Particles are little words that speakers use to signal the illocutionary force of utterances and/or express their attitude towards elements of the communicative situation, e.g. the addresses. This paper presents an overview of the classification, meaning and use of utterance particles in Ewe. It argues that they constitute a grammatical word class on functional and distributional grounds. The paper calls for a cross-cultural investigation of particles, especially in Africa, where they have been neglected for far too long.

Abstract

We introduce a biomechanical model of oropharyngeal structures that adds the soft-palate, pharynx, and larynx to our previous models of jaw, skull, hyoid, tongue, and face in a unified model. The model includes a comprehensive description of the upper airway musculature, using point-to-point muscles that may either be embedded within the deformable structures or operate exter- nally. The airway is described by an air-tight mesh that fits and deforms with the surrounding articulators, which enables dynamic coupling to our articulatory speech synthesizer. We demonstrate that the biomechanics, in conjunction with the skinning, supports a range from physically realistic to simplified vocal tract geometries to investigate different approaches to aeroacoustic modeling of vocal tract. Furthermore, our model supports inverse modeling to support investigation of plausible muscle activation patterns to generate speech.

Abstract

We present results from an experiment which shows that voice perception is influenced by the phonetic content of speech. Dutch listeners were presented with thirteen speakers pronouncing CVC words with systematically varying segmental content, and they had to discriminate the speakers’ voices. Results show that certain segments help listeners discriminate voices more than other segments do. Voice information can be extracted from every segmental position of a monosyllabic word and is processed rapidly. We also show that although relative discriminability within a closed set of voices appears to be a stable property of a voice, it is also influenced by segmental cues – that is, perceived uniqueness of a voice depends on what that voice says.

Abstract

This ERP study investigated the cognitive nature of the P1–N1 components during orthographic processing. We used an implicit reading task with various types of stimuli involving different amounts of sublexical or lexical orthographic processing (words, pseudohomophones, pseudowords, nonwords, and symbols), and tested average and dyslexic readers. An orthographic regularity effect (pseudowords– nonwords contrast) was observed in the average but not in the dyslexic group. This suggests an early sensitivity to the dependencies among letters in word-forms that reflect orthographic structure, while the dyslexic brain apparently fails to be appropriately sensitive to these complex features. Moreover, in the adults the N1-response may already reflect lexical access: (i) the N1 was sensitive to the familiar vs. less familiar orthographic sequence contrast; (ii) and early effects of the phonological form (words-pseudohomophones contrast) were also found. Finally, the later N320 component was attenuated in the dyslexics, suggesting suboptimal processing in later stages of phonological analysis.

Abstract

Evidence that rapid naming skill is associated with reading ability has become increasingly prevalent in recent years. However, there is considerable variation in the literature concerning the magnitude of this relationship. The objective of the present study was to provide a comprehensive analysis of the evidence on the relationship between rapid automatized naming (RAN) and reading performance. To this end, we conducted a meta-analysis of the correlational relationship between these 2 constructs to (a) determine the overall strength of the RAN–reading association and (b) identify variables that systematically moderate this relationship. A random-effects model analysis of data from 137 studies (857 effect sizes; 28,826 participants) indicated a moderate-to-strong relationship between RAN and reading performance (r = .43, I2 = 68.40). Further analyses revealed that RAN contributes to the 4 measures of reading (word reading, text reading, non-word reading, and reading comprehension), but higher coefficients emerged in favor of real word reading and text reading. RAN stimulus type and type of reading score were the factors with the greatest moderator effect on the magnitude of the RAN–reading relationship. The consistency of orthography and the subjects’ grade level were also found to impact this relationship, although the effect was contingent on reading outcome. It was less evident whether the subjects’ reading proficiency played a role in the relationship. Implications for future studies are discussed.

Abstract

We investigated music and language processing in a group of early bilinguals who spoke a tone language and a non-tone language (Cantonese and Dutch). We assessed online speech-music processing interactions, that is, interactions that occur when speech and music are processed simultaneously in songs, with a speeded classification task. In this task, participants judged sung pseudowords either musically (based on the direction of the musical interval) or phonologically (based on the identity of the sung vowel). We also assessed longer-term effects of linguistic experience on musical ability, that is, the influence of extensive prior experience with language when processing music. These effects were assessed with a task in which participants had to learn to identify musical intervals and with four pitch-perception tasks. Our hypothesis was that due to their experience in two different languages using lexical versus intonational tone, the early Cantonese-Dutch bilinguals would outperform the Dutch control participants. In online processing, the Cantonese-Dutch bilinguals processed speech and music more holistically than controls. This effect seems to be driven by experience with a tone language, in which integration of segmental and pitch information is fundamental. Regarding longer-term effects of linguistic experience, we found no evidence for a bilingual advantage in either the music-interval learning task or the pitch-perception tasks. Together, these results suggest that being a Cantonese-Dutch bilingual does not have any measurable longer-term effects on pitch and music processing, but does have consequences for how speech and music are processed jointly.

Abstract

Two experiments examined the nature of the phonological representations used during visual word recognition. We tested whether a minimality constraint (R. Frost, 1998) limits the complexity of early representations to a simple string of phonemes. Alternatively, readers might activate elaborated representations that include prosodic syllable information before lexical access. In a modified lexical decision task (Experiment 1), words were preceded by parafoveal previews that were congruent with a target's initial syllable as well as previews that contained 1 letter more or less than the initial syllable. Lexical decision times were faster in the syllable congruent conditions than in the incongruent conditions. In Experiment 2, we recorded brain electrical potentials (electroencephalograms) during single word reading in a masked priming paradigm. The event-related potential waveform elicited in the syllable congruent condition was more positive 250-350 ms posttarget compared with the waveform elicited in the syllable incongruent condition. In combination, these experiments demonstrate that readers process prosodic syllable information early in visual word recognition in English. They offer further evidence that skilled readers routinely activate elaborated, speechlike phonological representations during silent reading. (PsycINFO Database Record (c) 2016 APA, all rights reserved)

Abstract

People make sense of objects and events around them by classifying them into identifiable categories. The extent to which language affects this process has been the focus of a long-standing debate: Do different languages cause their speakers to behave differently? Here, we show that fluent German-English bilinguals categorize motion events according to the grammatical constraints of the language in which they operate. First, as predicted from cross-linguistic differences in motion encoding, bilingual participants functioning in a German testing context prefer to match events on the basis of motion completion to a greater extent than do bilingual participants in an English context. Second, when bilingual participants experience verbal interference in English, their categorization behavior is congruent with that predicted for German; when bilingual participants experience verbal interference in German, their categorization becomes congruent with that predicted for English. These findings show that language effects on cognition are context-bound and transient, revealing unprecedented levels of malleability in human cognition.

Abstract

Speakers achieve coherence in discourse by alternating between differential lexical forms e.g. noun phrase, pronoun, and null form in accordance with the accessibility of the entities they refer to, i.e. whether they introduce an entity into discourse for the first time or continue referring to an entity they already mentioned before. Moreover, tracking of entities in discourse is a multimodal phenomenon. Studies show that speakers are sensitive to the informational structure of discourse and use fuller forms (e.g. full noun phrases) in speech and gesture more when re-introducing an entity while they use attenuated forms (e.g. pronouns) in speech and gesture less when maintaining a referent. However, those studies focus mainly on non-pro-drop languages (e.g. English, German and French). The present study investigates whether the same pattern holds for pro-drop languages. It draws data from adult native speakers of Turkish using elicited narratives. We find that Turkish speakers mostly use fuller forms to code subject referents in re-introduction context and the null form in maintenance context and they point to gesture space for referents more in re-introduction context compared maintained context. Hence we provide supportive evidence for the reverse correlation between the accessibility of a discourse referent and its coding in speech and gesture. We also find that, as a novel contribution, third person pronoun is used in re-introduction context only when the referent was previously mentioned as the object argument of the immediately preceding clause.

Abstract

it is widely believed that the difference between regular and irregular verbs is restricted to form. This study questions that belief. We report a series of lexical statistics showing that irregular verbs cluster in denser regions in semantic space. Compared to regular verbs, irregular verbs tend to have more semantic neighbors that in turn have relatively many other semantic neighbors that are morphologically irregular. We show that this greater semantic density for irregulars is reflected in association norms, familiarity ratings, visual lexical-decision latencies, and word-naming latencies. Meta-analyses of the materials of two neuroimaging studies show that in these studies, regularity is confounded with differences in semantic density. Our results challenge the hypothesis of the supposed formal encapsulation of rules of inflection and support lines of research in which sensitivity to probability is recognized as intrinsic to human language.

Abstract

The main goal of the present study is to trace the consequences of local and global markedness for the processing of singular and plural nouns. Decompositional models such as proposed by (Pinker (1997); Pinker (1999)) and (Levelt et al. (1999)) predict a lexeme frequency effect and no effects of the frequencies of the singular and the plural forms. Experiments 1 and 4 reveal the expected lexeme frequency effect. Furthermore, in these experiments there are no clear independent effects of the frequencies of the inflected forms. However, the effects of Entropy and Relative Entropy that emerge from these experiments show that in production knowledge of the probabilities of the individual inflected forms do play a role, albeit indirectly. These entropy effects bear witness to the importance of paradigmatic organization of inflected forms in the mental lexicon, both at the level of individual lexemes (Entropy) and at the general level of the class of nouns (Relative Entropy).

Abstract

This paper provides an introduction to mixed-effects models for the analysis of repeated measurement data with subjects and items as crossed random effects. A worked-out example of how to use recent software for mixed-effects modeling is provided. Simulation studies illustrate the advantages offered by mixed-effects analyses compared to traditional analyses based on quasi-F tests, by-subjects analyses, combined by-subjects and by-items analyses, and random regression. Applications and possibilities across a range of domains of inquiry are discussed.

Abstract

While syntactic reanalysis has been extensively investigated in psycholinguistics, comparatively little is known about reanalysis in the semantic domain. We used event-related brain potentials (ERPs) to keep track of semantic processes involved in understanding short narratives such as ‘The girl was writing a letter when her friend spilled coffee on the paper’. We hypothesize that these sentences are interpreted in two steps: (1) when the progressive clause is processed, a discourse model is computed in which the goal state (a complete letter) is predicted to hold; (2) when the subordinate clause is processed, the initial representation is recomputed to the effect that, in the final discourse structure, the goal state is not satisfied. Critical sentences evoked larger sustained anterior negativities (SANs) compared to controls, starting around 400 ms following the onset of the sentence-final word, and lasting for about 400 ms. The amplitude of the SAN was correlated with the frequency with which participants, in an offline probe-selection task, responded that the goal state was not attained. Our results raise the possibility that the brain supports some form of non-monotonic recomputation to integrate information which invalidates previously held assumptions.

Abstract

We sketch four applications of Marr's levels-of-analysis methodology to the relations between logic and experimental data in the cognitive neuroscience of language and reasoning. The first part of the paper illustrates the explanatory power of computational level theories based on logic. We show that a Bayesian treatment of the suppression task in reasoning with conditionals is ruled out by EEG data, supporting instead an analysis based on defeasible logic. Further, we describe how results from an EEG study on temporal prepositions can be reanalyzed using formal semantics, addressing a potential confound. The second part of the article demonstrates the predictive power of logical theories drawing on EEG data on processing progressive constructions and on behavioral data on conditional reasoning in people with autism. Logical theories can constrain processing hypotheses all the way down to neurophysiology, and conversely neuroscience data can guide the selection of alternative computational level models of cognition.

Abstract

This study provides evidence for the role of semantic composition in compound word processing. We examined the online processing of isolated two meaning unit compounds in Chinese, a language that uses compounding to ‘disambiguate’ meaning. Using auditory presentation, we manipulated the semantic meaning and syntactic category of the two meaning units forming a compound. Event-related brain potential-recordings revealed a significant influence of semantic information, which was reflected in an N400 signature for compounds whose meaning differed from the constituent meanings. This finding suggests that the combination of distinct constituent meanings to form an overall compound meaning consumes processing resources. By contrast, no comparable difference was observed based on syntactic category information. Our findings indicate that combinatory semantic processing at the word level correlates with N400 effects.

Abstract

Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum lod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.

Abstract

The complementary learning systems account of word learning states that novel words, like other types of memories, undergo an offline consolidation process during which they are gradually integrated into the neocortical memory network. A fundamental change in the neural representation of a novel word should therefore occur in the hours after learning. The present EEG study tested this hypothesis by investigating whether novel words learned before a 24-hr consolidation period elicited more word-like oscillatory responses than novel words learned immediately before testing. In line with previous studies indicating that theta synchronization reflects lexical access, unfamiliar novel words elicited lower power in the theta band (4–8 Hz) than existing words. Recently learned words still showed a marginally lower theta increase than existing words, but theta responses to novel words that had been acquired 24 hr earlier were indistinguishable from responses to existing words. Consistent with evidence that beta desynchronization (16–21 Hz) is related to lexical-semantic processing, we found that both unfamiliar and recently learned novel words elicited less beta desynchronization than existing words. In contrast, no difference was found between novel words learned 24 hr earlier and existing words. These data therefore suggest that an offline consolidation period enables novel words to acquire lexically integrated, word-like neural representations.

Abstract

Mouthings and mouth gestures are omnipresent in Sign Language of the Netherlands (NGT). Mouthings in NGT are mouth actions that have their origin in spoken Dutch, and are usually time aligned with the signs they co-occur with. Frequently, however, they spread over one or more adjacent signs, so that one mouthing co-occurs with multiple manual signs. We conducted a corpus study to explore how frequently this occurs in NGT and whether there is any sociolinguistic variation in the use of spreading. Further, we looked at the circumstances under which spreading occurs. Answers to these questions may give us insight into the prosodic structure of sign languages. We investigated a sample of the Corpus NGT containing 5929 mouthings by 46 participants. We found that spreading over an adjacent sign is independent of social factors. Further, mouthings that spread are longer than non-spreading mouthings, whether measured in syllables or in milliseconds. By using a relatively large amount of natural data, we succeeded in gaining more insight into the way mouth actions are utilised in sign languages

Abstract

This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversations in Russian. In the discussion of various repair cases special attention is given to the modifications that the trouble source turn undergoes in response to an open versus a restricted repair initiation. Speakers often modify their problematic turn in multiple ways at ones when responding to an open repair initiation. They can alter the word order of the problematic turn, change prosodic contour of the utterance, omit redundant elements and add more specific ones. By contrast, restricted repair initiations usually receive specific repair solutions that target only one problem at a time

Abstract

Exploratory factor analysis (EFA) is commonly used to determine the dimensionality of continuous data. In a simulation study we investigate its usefulness with discrete data. We vary response scales (continuous, dichotomous, polytomous), factor loadings (medium, high), sample size (small, large), and factor structure (simple, complex). For each condition, we generate 1,000 data sets and apply EFA with 5 estimation methods (maximum likelihood [ML] of covariances, ML of polychoric correlations, robust ML, weighted least squares [WLS], and robust WLS) and 3 fit criteria (chi-square test, root mean square error of approximation, and root mean square residual). The various EFA procedures recover more factors when sample size is large, factor loadings are high, factor structure is simple, and response scales have more options. Robust WLS of polychoric correlations is the preferred method, as it is theoretically justified and shows fewer convergence problems than the other estimation methods.

Abstract

In using language, people not only exchange information, but also navigate their social world – for example, they can express themselves indirectly to avoid losing face. In this functional magnetic resonance imaging study, we investigated the neural correlates of interpreting face-saving indirect replies, in a situation where participants only overheard the replies as part of a conversation between two other people, as well as in a situation where the participants were directly addressed themselves. We created a fictional job interview context where indirect replies serve as a natural communicative strategy to attenuate one’s shortcomings, and asked fMRI participants to either pose scripted questions and receive answers from three putative job candidates (addressee condition) or to listen to someone else interview the same candidates (overhearer condition). In both cases, the need to evaluate the candidate ensured that participants had an active interest in comprehending the replies. Relative to direct replies, face-saving indirect replies increased activation in medial prefrontal cortex, bilateral temporo-parietal junction (TPJ), bilateral inferior frontal gyrus and bilateral middle temporal gyrus, in active overhearers and active addressees alike, with similar effect size, and comparable to findings obtained in an earlier passive listening study (Bašnáková et al., 2013). In contrast, indirectness effects in bilateral anterior insula and pregenual ACC, two regions implicated in emotional salience and empathy, were reliably stronger in addressees than in active overhearers. Our findings indicate that understanding face-saving indirect language requires additional cognitive perspective-taking and other discourse-relevant cognitive processing, to a comparable extent in active overhearers and addressees. Furthermore, they indicate that face-saving indirect language draws upon affective systems more in addressees than in overhearers, presumably because the addressee is the one being managed by a face-saving reply. In all, face-saving indirectness provides a window on the cognitive as well as affect-related neural systems involved in human communication.

Abstract

Changes in oscillatory brain dynamics can be studied by means of induced band power (IBP) analyses, which quantify event-related changes in amplitude of frequency-specific EEG rhythms. Such analyses capture EEG phenomena that are not part of traditional event-related potential measures. The present study investigated whether IBP changes in the δ, θ, and α frequency ranges are sensitive to syntactic violations in sentences. Subjects read sentences that either were correct or contained a syntactic violation. The violations were either grammatical gender agreement violations, where a prenominal adjective was not appropriately inflected for the head noun's gender, or number agreement violations, in which a plural quantifier was combined with a singular head noun. IBP changes of the concurrently measured EEG were computed in five frequency bands of 2-Hz width, individually adjusted on the basis of subjects' α peak, ranging approximately from 2 to 12 Hz. Words constituting a syntactic violation elicited larger increases in θ power than the same words in a correct sentence context, in an interval of 300–500 ms after word onset. Of all the frequency bands studied, this was true for the θ frequency band only. The scalp topography of this effect was different for different violations: following number violations a left-hemispheric dominance was found, whereas gender violations elicited a right-hemisphere dominance of the θ power increase. Possible interpretations of this effect are considered in closing.

Abstract

Oscillatory neuronal dynamics, observed in the human electroencephalogram (EEG) during language processing, have been related to the dynamic formation of functionally coherent networks that serve the role of integrating the different sources of information needed for understanding the linguistic input. To further explore the functional role of oscillatory synchrony during language processing, we quantified event-related EEG power changes induced by the presentation of open-class (OC) words and closed-class (CC) words in a wide range of frequencies (from 1 to 30 Hz), while subjects read a short story. Word presentation induced three oscillatory components: a theta power increase (4–7 Hz), an alpha power decrease (10–12 Hz), and a beta power decrease (16–21 Hz). Whereas the alpha and beta responses showed mainly quantitative differences between the two word classes, the theta responses showed qualitative differences between OC words and CC words: A theta power increase was found over left temporal areas for OC words, but not for CC words. The left temporal theta increase may index the activation of a network involved in retrieving the lexical–semantic properties of the OC items.

Abstract

Objective: To explore the reactivity of the theta and alpha rhythms during visuo-spatial working memory. Methods: One hundred and seventy-four subjects performed a delayed response task. They had to remember the spatial location of a target stimulus on a computer screen for a 1 or a 4 s retention interval. The target either remained visible throughout the entire interval (sensory trials) or disappeared after 150 ms (memory trials). Changes in induced band power (IBP) in the electroencephalogram (EEG) were analyzed in 4 narrow, individually adjusted frequency bands between 4 and 12 Hz. Results: After presentation of the target stimulus, a phasic power increase was found, irrespective of condition and delay interval, in the lower (roughly, 4–8 Hz) frequency bands, with a posterior maximum. During the retention interval, sustained occipital–parietal alpha power increase and frontal theta power decrease were found. Most importantly, the memory trials showed larger IBP decreases in the theta band over frontal electrodes than the sensory trials. Conclusions: The phasic power increase following target onset is interpreted to reflect encoding of the target location. The sustained theta decrease, which is larger for memory trials, is tentatively interpreted to reflect visuo-spatial working memory processes.

Abstract

By analyzing event-related changes in induced band power in narrow frequency bands of the human electroencephalograph, the present paper explores a possible functional role of the alpha and theta rhythms during the processing of words and of sentences. The results show a phasic power increase in the theta frequency range, together with a phasic power decrease in the alpha frequency range, following the presentation of words in a sentence. These effects may be related to word processing, either lexical or in relation to sentence context. Most importantly, there is a slow and highly frequency-specific increase in theta power as a sentence unfolds, possibly related to the formation of an episodic memory trace, or to incremental verbal working memory load.

Abstract

Previous research has suggested that the stimulus-preceding negativity (SPN) is largely independent of stimulus modality. In contrast, the scalp topography of the event related desynchronization (ERD) related to the anticipation of stimuli providing knowledge of results (KR) is modality dependent. These findings, combined with functional SPN research, lead to the hypothesis that anticipatory ERD reflects anticipatory attention, whereas the SPN mainly depends on the affective-motivational properties of the anticipated stimulus. To further investigate the prestimulus ERD, and compare this measure with the SPN, 12 participants performed a time-estimation task, and were informed about the quality of their time estimation by an auditory or a visual stimulus providing KR. The KR stimuli could be either intact or degraded. Auditory degraded KR stimuli were less effective than other KR stimuli in guiding subsequent behavior, and were preceded by a larger SPN. There were no effects of degradation on the SPN in the visual modality. Preceding auditory KR stimuli no ERD was present, whereas preceding visual stimuli an occipital ERD was found. However, contrary to expectation, the latter was larger preceding intact than preceding degraded stimuli. It is concluded that the data largely agree with an interpretation of the pre-KR SPN as a reflection of the anticipation of the affective-motivational value of KR stimuli, and of the prestimulus ERD as a perceptual anticipatory attention process.

Abstract

An influential hypothesis regarding the neural basis of the mental lexicon is that semantic representations are neurally implemented as distributed networks carrying sensory, motor and/or more abstract functional information. This work investigates whether the semantic properties of words partly determine the topography of such networks. Subjects performed a visual lexical decision task while their EEG was recorded. We compared the EEG responses to nouns with either visual semantic properties (VIS, referring to colors and shapes) or with auditory semantic properties (AUD, referring to sounds). A time–frequency analysis of the EEG revealed power increases in the theta (4–7 Hz) and lower-beta (13–18 Hz) frequency bands, and an early power increase and subsequent decrease for the alpha (8–12 Hz) band. In the theta band we observed a double dissociation: temporal electrodes showed larger theta power increases in the AUD condition, while occipital leads showed larger theta responses in the VIS condition. The results support the notion that semantic representations are stored in functional networks with a topography that reflects the semantic properties of the stored items, and provide further evidence that oscillatory brain dynamics in the theta frequency range are functionally related to the retrieval of lexical semantic information.

Abstract

During sentence level language comprehension, semantic and syntactic unification are functionally distinct operations. Nevertheless, both recruit roughly the same brain areas (spatially overlapping networks in the left frontotemporal cortex) and happen at the same time (in the first few hundred milliseconds after word onset). We tested the hypothesis that semantic and syntactic unification are segregated by means of neuronal synchronization of the functionally relevant networks in different frequency ranges: gamma (40 Hz and up) for semantic unification and lower beta (10–20 Hz) for syntactic unification. EEG power changes were quantified as participants read either correct sentences, syntactically correct though meaningless sentences (syntactic prose), or sentences that did not contain any syntactic structure (random word lists). Other sentences contained either a semantic anomaly or a syntactic violation at a critical word in the sentence. Larger EEG gamma-band power was observed for semantically coherent than for semantically anomalous sentences. Similarly, beta-band power was larger for syntactically correct sentences than for incorrect ones. These results confirm the existence of a functional dissociation in EEG oscillatory dynamics during sentence level language comprehension that is compatible with the notion of a frequency-based segregation of syntactic and semantic unification.

Abstract

Visual cortical areas subserve cognitive functions by interacting in both feedforward and feedback directions. While feedforward influences convey sensory signals, feedback influences modulate feedforward signaling according to the current behavioral context. We investigated whether these interareal influences are subserved differentially by rhythmic synchronization. We correlated frequency-specific directed influences among 28 pairs of visual areas with anatomical metrics of the feedforward or feedback character of the respective interareal projections. This revealed that in the primate visual system, feedforward influences are carried by theta-band ( approximately 4 Hz) and gamma-band ( approximately 60-80 Hz) synchronization, and feedback influences by beta-band ( approximately 14-18 Hz) synchronization. The functional directed influences constrain a functional hierarchy similar to the anatomical hierarchy, but exhibiting task-dependent dynamic changes in particular with regard to the hierarchical positions of frontal areas. Our results demonstrate that feedforward and feedback signaling use distinct frequency channels, suggesting that they subserve differential communication requirements.

Abstract

This article submits that the instances of incipient grammaticalization that are found in the later stages of Latin and that resulted in new grammatical forms in Romance, reflect a major linguistic innovation. While the new grammatical forms are created out of lexical or mildly grammatical autonomous elements, earlier processes seem to primarily involve particles with a certain semantic value and freezing. This fundamental difference explains why the attempts of early Indo-Europeanists such as Franz Bopp at tracing the lexical origins of Indo-European inflected forms were unsuccessful and strongly criticized by the Neo-Grammarians.

Abstract

Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments. A recent report described a child with speech and language deficits, and a genomic rearrangement affecting chromosomes 7 and 11. One breakpoint mapped to 7q31 and, although outside its coding region, was hypothesised to disrupt FOXP2 expression. We identified an element 2 kb downstream of this breakpoint with epigenetic characteristics of an enhancer. We show that this element drives reporter gene expression in human cell-lines. Thus, displacement of this element by translocation may disturb gene expression, contributing to the observed language phenotype.

Abstract

In many tasks the effects of frequency and age of acquisition (AoA) on reaction latencies are similar in size. However, in picture naming the AoA-effect is often significantly larger than expected on the basis of the frequency-effect. Previous explanations of this frequency-independent AoA-effect have attributed it to the organisation of the semantic system or to the way phonological word forms are stored in the mental lexicon. Using a semantic blocking paradigm, we show that semantic context effects on naming latencies are more pronounced for late-acquired than for early-acquired words. This interaction between AoA and naming context is likely to arise during lexical-semantic encoding, which we put forward as the locus for the frequency-independent AoA-effect.

Abstract

In the cyclic semantic blocking paradigm participants repeatedly name sets of objects with semantically related names (homogeneous sets) or unrelated names (heterogeneous sets). The naming latencies are typically longer in related than in unrelated sets. In we replicated this semantic blocking effect and demonstrated that the effect only arose after all objects of a set had been shown and named once. In , the objects of a set were presented simultaneously (instead of on successive trials). Evidence for semantic blocking was found in the naming latencies and in the gaze durations for the objects, which were longer in homogeneous than in heterogeneous sets. For the gaze-to-speech lag between the offset of gaze on an object and the onset of the articulation of its name, a repetition priming effect was obtained but no blocking effect. showed that the blocking effect for speech onset latencies generalized to new, previously unnamed lexical items. We propose that the blocking effect is due to refractory behaviour in the semantic system.

Abstract

We compared the performance of young (college-aged) and older (50+years) speakers in a single object and a multiple object naming task and assessed their susceptibility to semantic and phonological context effects when producing words amidst semantically or phonologically similar or dissimilar words. In single object naming, there were no performance differences between the age groups. In multiple object naming, we observed significant age-related slowing, expressed in longer gazes to the objects and slower speech. In addition, the direction of the phonological context effects differed for the two groups. The results of a supplementary experiment showed that young speakers, when adopting a slow speech rate, coordinated their eye movements and speech differently from the older speakers. Our results imply that age-related slowing in connected speech is not a direct consequence of a slowing of lexical retrieval processes. Instead, older speakers might allocate more processing capacity to speech monitoring processes, which would slow down their concurrent speech planning processes

Abstract

Moores, Laiti, and Chelazzi (2003) found semantic interference from associate competitors during visual object search, demonstrating the existence of top-down semantic influences on the deployment of attention to objects. We examined whether effects of semantically related competitors (same-category members or associates) interacted with the effects of perceptual or cognitive load. We failed to find any interaction between competitor effects and perceptual load. However, the competitor effects increased significantly when participants were asked to retain one or five digits in memory throughout the search task. Analyses of eye movements and viewing times showed that a cognitive load did not affect the initial allocation of attention but rather the time it took participants to accept or reject an object as the target. We discuss the implications of our findings for theories of conceptual short-term memory and visual attention.

Abstract

We investigated the time course of conjunctive ''same''-''different'' judgements for visually presented object pairs by means of combined reaction time and on-line eye movement measurements. The analyses of viewing patterns, viewing times, and reaction times showed that participants engaged in a parallel self-terminating search for differences. In addition, the results obtained for objects differing in only one dimension suggest that processing times may depend on the relative codability of the stimulus dimensions. The results are reviewed in a broader framework in view of higher-order processes. We propose that overspecifications of colour, often found in object descriptions, may have an ''early'' visual rather than a ''late'' linguistic origin. In a parallel assessment of the detection materials, participants overspecified the objects' colour substantially more often than their size. We argue that referential overspecifications of colour are largely attributable to mechanisms of visual discrimination.

Abstract

This paper deals with clients' personal narratives in psychotherapy. Using the method of conversation analysis, we focus on actions and tasks accomplished through clients' narratives. We identify, within the overall structural organization of therapeutic talk in our corpus, two different sequential placements of clients' narratives and describe some of their distinctive features. When they are placed within an inquiry phase of the session and are solicited by therapists' questions, the clients' narratives mainly provide information for therapists in the service of their inquiring agenda. When placed within an elaboration phase of the session, personal narratives are regularly volunteered by clients and produced as responses to therapists' reinterpretations, i.e., statements working up clients' circumstances as previously described by clients. In this latter placement, they mainly offer further evidence relevant to the therapists' reinterpretations, and thus show how clients understand therapists' reinterpretations and what they make of them. The import of these findings, for both an explication of therapeutic techniques and a better understanding of the therapeutic process, is also discussed.

Abstract

Background De novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathy. We described a person with epileptic encephalopathy associated with a mosaic deletion of the SCN8A gene. Methods Array comparative genome hybridization was used to identify chromosomal abnormalities. Next Generation Sequencing was used to screen for variants in known and candidate epilepsy genes. A single nucleotide polymorphism array was used to test whether the SCN8A variants were in cis or in trans. Results We identified a de novo mosaic deletion of exons 2–14 of SCN8A, and a rare maternally inherited missense variant on the other allele in a woman presenting with absence seizures, challenging behavior, intellectual disability and QRS-fragmentation on the ECG. We also found a variant in SCN5A. Conclusions The combination of a rare missense variant with a de novo mosaic deletion of a large part of the SCN8A gene suggests that other possible mechanisms for SCN8A mutations may cause epilepsy; loss of function, genetic modifiers and cellular interference may play a role. This case expands the phenotype associated with SCN8A mutations, with absence epilepsy and regression in language and memory skills.