Publications

Abstract

We examined how two-handed gestures and speech with equivalent contents that are used in narrative develop during childhood. The participants were 40 native speakers of English consisting of four different age groups: 3-, 5-, 9-year-olds, and adults. A set of 10 video clips depicting motion events were used to elicit speech and gesture. There are two findings. First, two types of two-handed gestures showed different developmental changes: those with a single-handed stroke with a simultaneous hold increased with age, while those with a two handed-stroke decreased with age. Second, representational gesture and speech developed in parallel at the discourse level. More specifically, the ways in which information is packaged in a gesture and in a clause are similar for a given age group; that is, gesture and speech develop hand-in-hand.

Abstract

This article discusses how the Trobriand Islanders speak about body and mind. It addresses the following questions: do the linguistic datafit into theories about lexical universals of body-part terminology? Can we make inferences about the Trobrianders' conceptualization of psychological and physical states on the basis of these data? If a Trobriand Islander sees these idioms as external manifestations of inner states, then can we interpret them as a kind of ethnopsychological theory about the body and its role for emotions, knowledge, thought, memory, and so on? Can these idioms be understood as representation of Trobriand ethnopsychological theory?

Abstract

This study is a prolegomenon to a formal theory of the natural growth of conceptual and lexical fields. Negation, in the various forms in which it occurs in language, is found to be a powerful indicator. Other than in standard logic, natural language negation selects its complement within universes of discourse that are, for practical and functional reasons, restricted in various ways and to different degrees. It is hypothesized that a system of cognitive principles drives recursive processes of universe restriction, which in turn affects logical relations within the restricted universes. This approach provides a new perspective in which to view the well-known clashes between standard logic and natural logical intuitions. Lexicalization in language, especially the morphological incorporation of negation, is limited to highly restricted universes, which explains, for example, why a dog can be said not to be a Catholic, but also not to be a non-Catholic. Cognition is taken to restrict the universe of discourse to contrary pairs, splitting up one or both of the contraries into further subuniverses as a result of further cognitive activity. It is shown how a logically sound square of opposition , expanded to a hexagon (Jacoby 1950, 1960, Sesmat 1951, Blanché 1952, 1953, 1966), is generated by a hierarchy of universe restrictions, defining the notion ‘natural’ for logical systems. The logical hexagon contains two additional vertices, one for ‘some but not all’ (the Y-type) and one for ‘either all or none’ (the U-type), and incorporates both the classic square and the Hamiltonian triangle of contraries . Some is thus considered semantically ambiguous, representing two distinct quantifiers. The pragmaticist claim that the language system contains only the standard logical ‘some perhaps all’ and that the ‘some but not all’ meaning is pragmatically derived from the use of the system is rejected. Four principles are proposed according to which negation selects a complement from the subuniverses at hand. On the basis of these principles and of the logico-cognitive system proposed, the well-known nonlexicalization not only of *nall and *nand but also of many other nonlogical cases found throughout the lexicons of languages is analyzed and explained

Abstract

Since Aristotle and the Stoa, there has been a clash, worsened by modern predicate logic, between logically defined operator meanings and natural intuitions. Pragmatics has tried to neutralize the clash by an appeal to the Gricean conversational maxims. The present study argues that the pragmatic attempt has been unsuccessful. The “softness” of the Gricean explanation fails to do justice to the robustness of the intuitions concerned, leaving the relation between the principles evoked and the observed facts opaque. Moreover, there are cases where the Gricean maxims fail to apply. A more adequate solution consists in the devising of a sound natural logic, part of the innate cognitive equipment of mankind. This account has proved successful in conjunction with a postulated cognitive mechanism in virtue of which the universe of discourse (Un) is stepwise and recursively restricted, so that the negation selects different complements according to the degree of restrictedness of Un. This mechanism explains not only the discrepancies between natural logical intuitions and known logical systems; it also accounts for certain systematic lexicalization gaps in the languages of the world. Finally, it is shown how stepwise restriction of Un produces the ontogenesis of natural predicate logic, while at the same time resolving the intuitive clashes with established logical systems that the Gricean maxims sought to explain

Abstract

The message of the present article is, first, that, besides and below the strictly linguistic aspects of communication through language, of which speakers are in principle fully aware, a great deal of knowledge not carried in virtue of the system of the language in question but rather transmitted by the form of the intended message, is imparted to listeners or readers, without either being in the least aware of this happening. For example, listeners quickly register the social status, regional origin or emotional attitude of speakers and they react to those kinds of ‘paralinguistic’ information, mostly totally unawares. When speaker and listener have a positive attitude with regard to each other, the reaction consists, among other things, in mutual alignment or accommodation of pronunciation features, lexical selections and style of speaking. When the mutual attitude is negative, the opposite happens: speakers accentuate their differences. Then, when this happens not between individual interlocutors but between groups of speakers, such accommodation or divergence phenomena may lead to language change. The main theoretical question raised, but not answered, in this article is how and at what point forms of behaviour, including linguistic behaviour, achieve the status of being ‘standard’ or ‘accepted’ in any given community and what it means to say that they are ‘standard’ or ‘accepted’. It is argued that frequency of occurrence is not the main explanatory factor, and that a causal explanation is to be sought rather in the, often unconscious, attitudes of individuals, in particular their desire or need to be integrated members of a community or social group, thus ensuring their safety and asserting their group identity. The question thus belongs to the province of social psychology. Qualms about analyses of this kind being ‘unscientific’ dissipate when it is realized that consciousness phenomena are part of the real world and must therefore be considered to be valid objects of scientific theory formation. Like so many other ill-understood elements in scientific theories, consciousness, though itself unexplained, can be given a place in causal chains of events.

Abstract

Notch signaling in the nervous system is often regarded as a developmental pathway. However, recent studies have suggested that Notch is associated with neuronal discharges. Here, focusing on temporal lobe epilepsy, we found that Notch signaling was activated in the kainic acid (KA)-induced epilepsy model and in human epileptogenic tissues. Using an acute model of seizures, we showed that DAPT, an inhibitor of Notch, inhibited ictal activity. In contrast, pretreatment with exogenous Jagged1 to elevate Notch signaling before KA application had proconvulsant effects. In vivo, we demonstrated that the impacts of activated Notch signaling on seizures can in part be attributed to the regulatory role of Notch signaling on excitatory synaptic activity in CA1 pyramidal neurons. In vitro, we found that DAPT treatment impaired synaptic vesicle endocytosis in cultured hippocampal neurons. Taken together, our findings suggest a correlation between aberrant Notch signaling and epileptic seizures. Notch signaling is up-regulated in response to seizure activity, and its activation further promotes neuronal excitation of CA1 pyramidal neurons in acute seizures.

Abstract

We investigated the neural basis of inhibitory control during lexical selection. Participants overtly named pictures while response times (RTs) and event-related brain potentials (ERPs) were recorded. The difficulty of lexical selection was manipulated by using object and action pictures with high name agreement (few response candidates) versus low name agreement (many response candidates). To assess the involvement of inhibition, we conducted delta plot analyses of naming RTs and examined the N2 component of the ERP. We found longer mean naming RTs and a larger N2 amplitude in the low relative to the high name agreement condition. For action naming we found a negative correlation between the slopes of the slowest delta segment and the difference in N2 amplitude between the low and high name agreement conditions. The converging behavioral and electrophysiological evidence suggests that selective inhibition is engaged to reduce competition during lexical selection in picture naming.

Abstract

In two studies, we examined whether explicit distractors are necessary and sufficient toevoke selective inhibition in three naming tasks: the semantic blocking, picture-word interference, and color-word Stroop task. Delta plots were used to quantify the size of the interference effects as a function of reaction time (RT). Selective inhibition was operationalized as the decrease in the size of the interference effect as a function of naming RT. For all naming tasks, mean naming RTs were significantly longer in the interference condition than in a control condition. The slopes of the interference effects for the longest naming RTs correlated with the magnitude of the mean interference effect in both the semantic blocking task and the picture-word interference task, suggesting that selective inhibition was involved to reduce the interference from strong semantic competitors either invoked by a single explicit competitor or strong implicit competitors in picture naming. However, there was no correlation between the slopes and the mean interference effect in the Stroop task, suggesting less importance of selective inhibition in this task despite explicit distractors. Whereas the results of the semantic blocking task suggest that an explicit distractor is not necessary for triggering inhibition, the results of the Stroop task suggest that such a distractor is not sufficient for evoking inhibition either.

Abstract

The present study provides Dutch norms for age of acquisition, familiarity, imageability, image agreement, visual complexity, word frequency, and word length (in syllables) for 124 line drawings of actions. Ratings were obtained from 117 Dutch participants. Word frequency was determined on the basis of the SUBTLEX-NL corpus (Keuleers, Brysbaert, & New, Behavior Research Methods, 42, 643–650, 2010). For 104 of the pictures, naming latencies and name agreement were determined in a separate naming experiment with 74 native speakers of Dutch. The Dutch norms closely corresponded to the norms for British English. Multiple regression analysis showed that age of acquisition, imageability, image agreement, visual complexity, and name agreement were significant predictors of naming latencies, whereas word frequency and word length were not. Combined with the results of a principal-component analysis, these findings suggest that variables influencing the processes of conceptual preparation and lexical selection affect latencies more strongly than do variables influencing word-form encoding.

Abstract

This study examined the contributions of verbal ability and executive control to verbal fluency performance in older adults (n=82). Verbal fluency was assessed in letter and category fluency tasks, and performance on these tasks was related to indicators of vocabulary size, lexical access speed, updating, and inhibition ability. In regression analyses the number of words produced in both fluency tasks was predicted by updating ability, and the speed of the first response was predicted by vocabulary size and, for category fluency only, lexical access speed. These results highlight the hybrid character of both fluency tasks, which may limit their usefulness for research and clinical purposes.

Abstract

Pitch is often described metaphorically: for example, Farsi and Turkish speakers use a ‘thickness’ metaphor (low sounds are ‘thick’ and high sounds are ‘thin’), while German and English speakers use a height metaphor (‘low’, ‘high’). This study examines how child and adult speakers of Farsi, Turkish, and German map pitch and thickness using a cross-modal association task. All groups, except for German children, performed significantly better than chance. German-speaking adults’ success suggests the pitch-to-thickness association can be learned by experience. But the fact that German children were at chance indicates that this learning takes time. Intriguingly, Farsi and Turkish children's performance suggests that learning cross-modal associations can be boosted through experience with consistent metaphorical mappings in the input language

Abstract

Contrary to linear difference equations, there is no general theory of difference equations of the form G(P(x−τ1),…,P(x−τs))+G0(x)=0, with τi∈K, G(x1,…,xs)∈K[x1,…,xs] of total degree D⩾2 and G0(x)∈K[x], where K is a field of characteristic zero. This article is concerned with the following problem: given τi, G and G0, find an upper bound on the degree d of a polynomial solution P(x), if it exists. In the presented approach the problem is reduced to constructing a univariate polynomial for which d is a root. The authors formulate a sufficient condition under which such a polynomial exists. Using this condition, they give an effective bound on d, for instance, for all difference equations of the form G(P(x−a),P(x−a−1),P(x−a−2))+G0(x)=0 with quadratic G, and all difference equations of the form G(P(x),P(x−τ))+G0(x)=0 with G having an arbitrary degree.

Abstract

In conversation, the initial pitch of an utterance can provide an early phonetic cue of the communicative function, the speech act, or the social action being implemented. We conducted quantitative acoustic measurements and statistical analyses of pitch in over 10,000 utterances, including 2512 questions, their responses, and about 5000 other utterances by 180 total speakers from a corpus of 70 natural conversations in 10 languages. We measured pitch at first prominence in a speaker’s utterance and discriminated utterances by language, speaker, gender, question form, and what social action is achieved by the speaker’s turn. Through applying multivariate logistic regression we found that initial pitch that significantly deviated from the speaker’s median pitch level was predictive of the social action of the question. In questions designed to solicit agreement with an evaluation rather than information, pitch was divergent from a speaker’s median predictably in the top 10% of a speakers range. This latter finding reveals a kind of iconicity in the relationship between prosody and social action in which a marked pitch correlates with a marked social action. Thus, we argue that speakers rely on pitch to provide an early signal for recipients that the question is not to be interpreted through its literal semantics but rather through an inference.

Abstract

Since Pillsbury [1908. Attention. London: Swan Sonnenschein & Co], the issue of whether attention operates through inhibition or enhancement has been on the scientific agenda. We examined whether overcoming previous attentional inhibition or enhancement is the source of asymmetrical switch costs in spoken noun-phrase production and colour-word Stroop tasks. In Experiment 1, using bivalent stimuli, we found asymmetrical costs in response times for switching between long and short phrases and between Stroop colour naming and reading. However, in Experiment 2, using bivalent stimuli for the weaker tasks (long phrases, colour naming) and univalent stimuli for the stronger tasks (short phrases, word reading), we obtained an asymmetrical switch cost for phrase production, but a symmetrical cost for Stroop. The switch cost evidence was quantified using Bayesian statistical analyses. Our findings suggest that switching between phrase types involves inhibition, whereas switching between colour naming and reading involves enhancement. Thus, the attentional mechanism depends on the language-production task involved. The results challenge theories of task switching that assume only one attentional mechanism, inhibition or enhancement, rather than both mechanisms.

Abstract

Recently, it has been proposed that sequence learning engages a combination of modality-specific operating networks and modality-independent computational principles. In the present study, we compared the behavioural and EEG outcomes of implicit artificial grammar learning in the visual vs. auditory modality. We controlled for the influence of surface characteristics of sequences (Associative Chunk Strength), thus focusing on the strictly structural aspects of sequence learning, and we adapted the paradigms to compensate for known frailties of the visual modality compared to audition (temporal presentation, fast presentation rate). The behavioural outcomes were similar across modalities. Favouring the idea of modality-specificity, ERPs in response to grammar violations differed in topography and latency (earlier and more anterior component in the visual modality), and ERPs in response to surface features emerged only in the auditory modality. In favour of modality-independence, we observed three common functional properties in the late ERPs of the two grammars: both were free of interactions between structural and surface influences, both were more extended in a grammaticality classification test than in a preference classification test, and both correlated positively and strongly with theta event-related-synchronization during baseline testing. Our findings support the idea of modality-specificity combined with modality-independence, and suggest that memory for visual vs. auditory sequences may largely contribute to cross-modal differences.

Abstract

We investigated global integration (wrap-up) processes at the boundaries of musical phrases by comparing the effects of well and non-well formed phrases on event-related potentials time-locked to two boundary points: the onset and the offset of the boundary pause. The Closure Positive Shift, which is elicited at the boundary offset, was not modulated by the quality of phrase structure (well vs. non-well formed). In contrast, the boundary onset potentials showed different patterns for well and non-well formed phrases. Our results contribute to specify the functional meaning of the Closure Positive Shift in music, shed light on the large-scale structural integration of musical input, and raise new hypotheses concerning shared resources between music and language.

Abstract

Neuroscientific and musicological approaches to music cognition indicate that listeners familiarized in the Western tonal tradition expect a musical phrase boundary at predictable time intervals. However, phrase boundary prediction processes in music remain untested. We analyzed event-related potentials (ERPs) and event-related induced power changes at the onset and offset of a boundary pause. We made comparisons with modified melodies, where the pause was omitted and filled by tones. The offset of the pause elicited a closure positive shift (CPS), indexing phrase boundary detection. The onset of the filling tones elicited significant increases in theta and beta powers. In addition, the P2 component was larger when the filling tones started than when they ended. The responses to boundary omission suggest that listeners expected to hear a boundary pause. Therefore, boundary prediction seems to coexist with boundary detection in music segmentation.

Abstract

An ability to decode semantic information from fMRI spatial patterns has been demonstrated in previous studies mostly for 1 specific input modality. In this study, we aimed to decode semantic category independent of the modality in which an object was presented. Using a searchlight method, we were able to predict the stimulus category from the data while participants performed a semantic categorization task with 4 stimulus modalities (spoken and written names, photographs, and natural sounds). Significant classification performance was achieved in all 4 modalities. Modality-independent decoding was implemented by training and testing the searchlight method across modalities. This allowed the localization of those brain regions, which correctly discriminated between the categories, independent of stimulus modality. The analysis revealed large clusters of voxels in the left inferior temporal cortex and in frontal regions. These voxels also allowed category discrimination in a free recall session where subjects recalled the objects in the absence of external stimuli. The results show that semantic information can be decoded from the fMRI signal independently of the input modality and have clear implications for understanding the functional mechanisms of semantic memory.

Abstract

In this study, we explore the possibility to predict the semantic category of words from brain signals in a free word generation task. Participants produced single words from different semantic categories in a modified semantic fluency task. A Bayesian logistic regression classifier was trained to predict the semantic category of words from single-trial MEG data. Significant classification accuracies were achieved using sensor-level MEG time series at the time interval of conceptual preparation. Semantic category prediction was also possible using source-reconstructed time series, based on minimum norm estimates of cortical activity. Brain regions that contributed most to classification on the source level were identified. These were the left inferior frontal gyrus, left middle frontal gyrus, and left posterior middle temporal gyrus. Additionally, the temporal dynamics of brain activity underlying the semantic preparation during word generation was explored. These results provide important insights about central aspects of language production

Abstract

This study examines what stage 9‐12‐year‐old Dutch‐speaking children have reached in the development of their L2 lexicon, focusing on its phonological specificity. Two experiments were carried out with a group of Dutch‐speaking children and adults learning English. In a first task, listeners were asked to judge Dutch words which were presented with either the target Dutch vowel or with an English vowel synthetically inserted. The second experiment was a mirror of the first, i.e. with English words and English or Dutch vowels inserted. It was examined to what extent the listeners accepted substitutions of Dutch vowels by English ones, and vice versa. The results of the experiments suggest that the children have not reached the same degree of phonological specificity of L2 words as the adults. Children not only experience a strong influence of their native vowel categories when listening to L2 words, they also apply less strict criteria.

Abstract

This study investigated the phonological representations of vowels in children's native and non-native lexicons. Two experiments were mispronunciation tasks (i.e., a vowel in words was substituted by another vowel from the same language). These were carried out by Dutch-speaking 9–12-year-old children and Dutch-speaking adults, in their native (Experiment 1, Dutch) and non-native (Experiment 2, English) language. A third experiment tested vowel discrimination. In Dutch, both children and adults could accurately detect mispronunciations. In English, adults, and especially children, detected substitutions of native vowels (i.e., vowels that are present in the Dutch inventory) by non-native vowels more easily than changes in the opposite direction. Experiment 3 revealed that children could accurately discriminate most of the vowels. The results indicate that children's L1 categories strongly influenced their perception of English words. However, the data also reveal a hint of the development of L2 phoneme categories.

Abstract

An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an increased CNV burden in terms of the average number of events (11.28 vs 10.01, empirical P=0.003), the total length of CNVs (717 vs 513 Kb, empirical P=0.0001), the average CNV size (63.75 vs 51.6 Kb, empirical P=0.0005) and the number of genes spanned (14.29 vs 10.34, empirical P=0.0007) when compared with population controls, suggesting that CNVs may contribute to SLI risk. A similar trend was observed in first-degree relatives regardless of affection status. The increased burden found in our study was not driven by large or de novo events, which have been described as causative in other neurodevelopmental disorders. Nevertheless, de novo CNVs might be important on a case-by-case basis, as indicated by identification of events affecting relevant genes, such as ACTR2 and CSNK1A1, and small events within known micro-deletion/-duplication syndrome regions, such as chr8p23.1. Pathway analysis of the genes present within the CNVs of the independent cases identified significant overrepresentation of acetylcholine binding, cyclic-nucleotide phosphodiesterase activity and MHC proteins as compared with controls. Taken together, our data suggest that the majority of the risk conferred by CNVs in SLI is via common, inherited events within a ‘common disorder–common variant’ model. Therefore the risk conferred by CNVs will depend upon the combination of events inherited (both CNVs and SNPs), the genetic background of the individual and the environmental factors.

Abstract

Aim Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.

Abstract

Listeners have to overcome variability of the speech signal that can arise, for example, because of differences in room acoustics, differences in speakers’ vocal tract properties, or idiosyncrasies in pronunciation. Two mechanisms that are involved in resolving such variation are perceptually contrastive effects that arise from surrounding acoustic context and lexically guided perceptual learning. Although both processes have been studied in great detail, little attention has been paid to how they operate relative to each other in speech perception. The present study set out to address this issue. The carrier parts of exposure stimuli of a classical perceptual learning experiment were spectrally filtered such that the acoustically ambiguous final fricatives sounded relatively more like the lexically intended sound (Experiment 1) or the alternative (Experiment 2). Perceptual learning was found only in the latter case. The findings show that perceptual contrast effects precede lexically guided perceptual learning, at least in terms of temporal order, and potentially in terms of cognitive processing levels as well

Abstract

Important speech cues such as lexical tone and vowel quality are perceptually contrasted to the distribution of those same cues in surrounding contexts. However, it is unclear whether preceding and following contexts have similar influences, and to what extent those influences are modulated by the auditory history of previous trials. To investigate this, Cantonese participants labeled sounds from (a) a tone continuum (mid- to high-level), presented with a context that had raised or lowered F0 values and (b) a vowel quality continuum (/u/ to /o/), where the context had raised or lowered F1 values. Contexts with high or low F0/F1 were presented in separate blocks or intermixed in 1 block. Contexts were presented following (Experiment 1) or preceding the target continuum (Experiment 2). Contrastive effects were found for both tone and vowel quality (e.g., decreased F0 values in contexts lead to more high tone target judgments and vice versa). Importantly, however, lexical tone was only influenced by F0 in immediately preceding and following contexts. Vowel quality was only influenced by the F1 in preceding contexts, but this extended to contexts from preceding trials. Contextual influences on tone and vowel quality are qualitatively different, which has important implications for understanding the mechanism of context effects in speech perception.

Abstract

The smooth transitions between turns in natural conversation suggest that speakers often begin to plan their utterances while listening to their interlocutor. The presented study investigates whether this is indeed the case and, if so, when utterance planning begins. Two hypotheses were contrasted: that speakers begin to plan their turn as soon as possible (in our experiments less than a second after the onset of the interlocutor’s turn), or that they do so close to the end of the interlocutor’s turn. Turn-taking was combined with a finger tapping task to measure variations in cognitive load. We assumed that the onset of speech planning in addition to listening would be accompanied by deterioration in tapping performance. Two picture description experiments were conducted. In both experiments there were three conditions: (1) Tapping and Speaking, where participants tapped a complex pattern while taking over turns from a pre-recorded speaker, (2) Tapping and Listening, where participants carried out the tapping task while overhearing two pre-recorded speakers, and (3) Speaking Only, where participants took over turns as in the Tapping and Speaking condition but without tapping. The experiments differed in the amount of tapping training the participants received at the beginning of the session. In Experiment 2, the participants’ eye-movements were recorded in addition to their speech and tapping. Analyses of the participants’ tapping performance and eye movements showed that they initiated the cognitively demanding aspects of speech planning only shortly before the end of the turn of the preceding speaker. We argue that this is a smart planning strategy, which may be the speakers’ default in many everyday situations.

Abstract

Introduction The ability to identify individuals at increased genetic risk for Alzheimer's disease (AD) may streamline biomarker and drug trials and aid clinical and personal decision making. Methods We evaluated the discriminative ability of a genetic risk score (GRS) covering 22 published genetic risk loci for AD in 1162 Flanders-Belgian AD patients and 1019 controls and assessed correlations with family history, onset age, and cerebrospinal fluid (CSF) biomarkers (Aβ1-42, T-Tau, P-Tau181P). Results A GRS including all single nucleotide polymorphisms (SNPs) and age-specific APOE ε4 weights reached area under the curve (AUC) 0.70, which increased to AUC 0.78 for patients with familial predisposition. Risk of AD increased with GRS (odds ratio, 2.32 (95% confidence interval 2.08-2.58 per unit; P < 1.0e-15). Onset age and CSF Aβ1-42 decreased with increasing GRS (Ponset-age = 9.0e-11; PAβ = 8.9e-7). Discussion The discriminative ability of this 22-SNP GRS is still limited, but these data illustrate that incorporation of age-specific weights improves discriminative ability. GRS-phenotype correlations highlight the feasibility of identifying individuals at highest susceptibility. © 2015 The Authors.

Abstract

Crosslinguistic studies of expressions of motion events have found that Talmy's binary typology of verb-framed and satellite-framed languages is reflected in language use. In particular, Manner of motion is relatively more elaborated in satellite-framed languages (e.g., in narrative, picture description, conversation, translation). The present research builds on previous controlled studies of the domain of human motion by eliciting descriptions of a wide range of manners of walking and running filmed in natural circumstances. Descriptions were elicited from speakers of two satellite-framed languages (English, Polish) and three verb-framed languages (French, Spanish, Basque). The sampling of events in this study resulted in four major semantic clusters for these five languages: walking, running, non-canonical gaits (divided into bounce-and-recoil and syncopated movements), and quadrupedal movement (crawling). Counts of verb types found a broad tendency for satellite-framed languages to show greater lexical diversity, along with substantial within group variation. Going beyond most earlier studies, we also examined extended descriptions of manner of movement, isolating types of manner. The following categories of manner were identified and compared: attitude of actor, rate, effort, posture, and motor patterns of legs and feet. Satellite-framed speakers tended to elaborate expressive manner verbs, whereas verb-framed speakers used modification to add manner to neutral motion verbs

Abstract

Young children's visual environments are dynamic, changing moment-by-moment as children physically and visually explore spaces and objects and interact with people around them. Head-mounted eye tracking offers a unique opportunity to capture children's dynamic egocentric views and how they allocate visual attention within those views. This protocol provides guiding principles and practical recommendations for researchers using head-mounted eye trackers in both laboratory and more naturalistic settings. Head-mounted eye tracking complements other experimental methods by enhancing opportunities for data collection in more ecologically valid contexts through increased portability and freedom of head and body movements compared to screen-based eye tracking. This protocol can also be integrated with other technologies, such as motion tracking and heart-rate monitoring, to provide a high-density multimodal dataset for examining natural behavior, learning, and development than previously possible. This paper illustrates the types of data generated from head-mounted eye tracking in a study designed to investigate visual attention in one natural context for toddlers: free-flowing toy play with a parent. Successful use of this protocol will allow researchers to collect data that can be used to answer questions not only about visual attention, but also about a broad range of other perceptual, cognitive, and social skills and their development.

Abstract

Abstract In the past, several assessment reports on writing repeatedly showed that elementary school students do not develop the essential writing skills to be successful in school. In this respect, prior research has pointed to the fact that cognitive and motivational challenges are at the root of the rather basic level of elementary students' writing performance. Additionally, previous research has revealed gender and achievement-level differences in elementary students' writing. In view of providing effective writing instruction for all students to overcome writing difficulties, the present study provides more in-depth insight into (a) how cognitive and motivational challenges mediate and correlate with students' writing performance and (b) whether and how these relations vary for boys and girls and for writers of different achievement levels. In the present study, 1,577 fifth- and sixth-grade students completed questionnaires regarding their writing self-efficacy, writing motivation, and writing strategies. In addition, half of the students completed two writing tests, respectively focusing on the informational or narrative text genre. Based on multiple group structural equation modeling (MG-SEM), we put forward two models: a MG-SEM model for boys and girls and a MG-SEM model for low, average, and high achievers. The results underline the importance of studying writing models for different groups of students in order to gain more refined insight into the complex interplay between motivational and cognitive challenges related to students' writing performance.

Abstract

Spinocerebellar ataxia type 23 is caused by mutations in PDYN, which encodes the opioid neuropeptide precursor protein, prodynorphin. Prodynorphin is processed into the opioid peptides, α-neoendorphin, and dynorphins A and B, that normally exhibit opioid-receptor mediated actions in pain signalling and addiction. Dynorphin A is likely a mutational hotspot for spinocerebellar ataxia type 23 mutations, and in vitro data suggested that dynorphin A mutations lead to persistently elevated mutant peptide levels that are cytotoxic and may thus play a crucial role in the pathogenesis of spinocerebellar ataxia type 23. To further test this and study spinocerebellar ataxia type 23 in more detail, we generated a mouse carrying the spinocerebellar ataxia type 23 mutation R212W in PDYN. Analysis of peptide levels using a radioimmunoassay shows that these PDYNR212W mice display markedly elevated levels of mutant dynorphin A, which are associated with climber fibre retraction and Purkinje cell loss, visualized with immunohistochemical stainings. The PDYNR212W mice reproduced many of the clinical features of spinocerebellar ataxia type 23, with gait deficits starting at 3 months of age revealed by footprint pattern analysis, and progressive loss of motor coordination and balance at the age of 12 months demonstrated by declining performances on the accelerating Rotarod. The pathologically elevated mutant dynorphin A levels in the cerebellum coincided with transcriptionally dysregulated ionotropic and metabotropic glutamate receptors and glutamate transporters, and altered neuronal excitability. In conclusion, the PDYNR212W mouse is the first animal model of spinocerebellar ataxia type 23 and our work indicates that the elevated mutant dynorphin A peptide levels are likely responsible for the initiation and progression of the disease, affecting glutamatergic signalling, neuronal excitability, and motor performance. Our novel mouse model defines a critical role for opioid neuropeptides in spinocerebellar ataxia, and suggests that restoring the elevated mutant neuropeptide levels can be explored as a therapeutic intervention.

Abstract

Cerebellar ataxias are progressive neurodegenerative disorders characterized by atrophy of the cerebellum leading to motor dysfunction, balance problems, and limb and gait ataxia. These include among others, the dominantly inherited spinocerebellar ataxias, recessive cerebellar ataxias such as Friedreich's ataxia, and X-linked cerebellar ataxias. Since all cerebellar ataxias display considerable overlap in their disease phenotypes, common pathological pathways must underlie the selective cerebellar neurodegeneration. Therefore, it is important to identify the molecular mechanisms and routes to neurodegeneration that cause cerebellar ataxia. In this review, we discuss the use of functional genomic approaches including whole-exome sequencing, genome-wide gene expression profiling, miRNA profiling, epigenetic profiling, and genetic modifier screens to reveal the underlying pathogenesis of various cerebellar ataxias. These approaches have resulted in the identification of many disease genes, modifier genes, and biomarkers correlating with specific stages of the disease. This article is part of a Special Issue entitled: From Genome to Function.

Abstract

Learning to read and write requires an individual to connect additional orthographic representations to pre-existing mappings between phonological and semantic representations of words. Past empirical results suggest that the process of learning to read and write (at least in alphabetic languages) elicits changes in the language processing system, by either increasing the cognitive efficiency of mapping between representations associated with a word, or by changing the granularity of phonological processing of spoken language, or through a combination of both. Behavioural effects of literacy have typically been assessed in offline explicit tasks that have addressed only phonological processing. However, a recent eye tracking study compared high and low literate participants on effects of phonology and semantics in processing measured implicitly using eye movements. High literates’ eye movements were more affected by phonological overlap in online speech than low literates, with only subtle differences observed in semantics. We determined whether these effects were due to cognitive efficiency and/or granularity of speech processing in a multimodal model of speech processing – the amodal shared resource model (ASR, Smith, Monaghan, & Huettig, 2013). We found that cognitive efficiency in the model had only a marginal effect on semantic processing and did not affect performance for phonological processing, whereas fine-grained versus coarse-grained phonological representations in the model simulated the high/low literacy effects on phonological processing, suggesting that literacy has a focused effect in changing the grain-size of phonological mappings.

Abstract

A quantitative model of human categorization behavior is proposed, which can be applied to 4-alternative forced-choice categorization data involving two binary classifications. A number of processing dependencies between the two classifications are explicitly formulated, such as the dependence of the location, orientation, and steepness of the class boundary for one classification on the outcome of the other classification. The significance of various types of dependencies can be tested statistically. Analyses of a data set from the literature shows that interesting dependencies in human speech recognition can be uncovered using the model.

Abstract

The appropriate definition and scaling of the magnitude of electroencephalogram (EEG) oscillations is an underdeveloped area. The aim of this study was to optimize the analysis of resting EEG alpha magnitude, focusing on alpha peak frequency and nonlinear transformation of alpha power. A family of nonlinear transforms, Box-Cox transforms, were applied to find the transform that (a) maximized a non-disputed effect: the increase in alpha magnitude when the eyes are closed (Berger effect), and (b) made the distribution of alpha magnitude closest to normal across epochs within each participant, or across participants. The transformations were performed either at the single epoch level or at the epoch-average level. Alpha peak frequency showed large individual differences, yet good correspondence between various ways to estimate it in 2min of eyes-closed and 2min of eyes-open resting EEG data. Both alpha magnitude and the Berger effect were larger for individual alpha than for a generic (8-12Hz) alpha band. The log-transform on single epochs (a) maximized the t-value of the contrast between the eyes-open and eyes-closed conditions when tested within each participant, and (b) rendered near-normally distributed alpha power across epochs and participants, thereby making further transformation of epoch averages superfluous. The results suggest that the log-normal distribution is a fundamental property of variations in alpha power across time in the order of seconds. Moreover, effects on alpha power appear to be multiplicative rather than additive. These findings support the use of the log-transform on single epochs to achieve appropriate scaling of alpha magnitude.

Abstract

Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental
disorders. We describe an index case with a de novo missense mutation in CHD3,
identified during whole genome sequencing of a cohort of children with rare speech disorders.
To gain a comprehensive view of features associated with disruption of this gene, we use a
genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3
mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase
domain of the encoded protein. Modeling their impact on the three-dimensional structure
demonstrates disturbance of critical binding and interaction motifs. Experimental assays with
six of the identified mutations show that a subset directly affects ATPase activity, and all but
one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a
syndrome characterized by intellectual disability, macrocephaly, and impaired speech and
language.

Abstract

Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders. Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms. Six affected individuals had mutations that are predicted to truncate the MED13 protein, six had missense mutations, and one had an in-frame-deletion of one amino acid. Out of the seven non-truncating mutations, six clustered in two specific locations of the MED13 protein: an N-terminal and C-terminal region. The four N-terminal clustering mutations affect two adjacent amino acids that are known to be involved in MED13 ubiquitination and degradation, p.Thr326 and p.Pro327. MED13 is a component of the CDK8-kinase module that can reversibly bind Mediator, a multi-protein complex that is required for Polymerase II transcription initiation. Mutations in several other genes encoding subunits of Mediator have been previously shown to associate with DD/ID, including MED13L, a paralog of MED13. Thus, our findings add MED13 to the group of CDK8-kinase module-associated disease genes

Abstract

Humans have a strong proclivity for structuring and patterning stimuli: Whether in space or time, we tend to mentally order stimuli in our environment and organize them into units with specific types of relationships. A crucial prerequisite for such organization is the cognitive ability to discern and process regularities among multiple stimuli. To investigate the evolutionary roots of this cognitive capacity, we tested chimpanzees—which, along with bonobos, are our closest living relatives—for simple, variable distance dependency processing in visual patterns. We trained chimpanzees to identify pairs of shapes either linked by an arbitrary learned association (arbitrary associative dependency) or a shared feature (same shape, feature-based dependency), and to recognize strings where items related to either of these ways occupied the first (leftmost) and the last (rightmost) item of the stimulus. We then probed the degree to which subjects generalized this pattern to new colors, shapes, and numbers of interspersed items. We found that chimpanzees can learn and generalize both types of dependency rules, indicating that the ability to encode both feature-based and arbitrary associative regularities over variable distances in the visual domain is not a human prerogative. Our results strongly suggest that these core components of human structural processing were already present in our last common ancestor with chimpanzees.

Abstract

Flexibly adapting social behavior to social and environmental challenges helps to alleviate glucocorticoid (GC) levels, which may have positive fitness implications for an individual. For primates, the predominant social behavior is grooming. Giving grooming to others is particularly efficient in terms of GC mitigation. However, grooming is confined by certain limitations such as time constraints or restricted access to other group members. For instance, dominance hierarchies may impact grooming partner availability in primate societies. Consequently specific grooming patterns emerge. In despotic species focusing grooming activity on preferred social partners significantly ameliorates GC levels in females of all ranks. In this study we investigated grooming patterns and GC management in Barbary macaques, a comparably relaxed species. We monitored changes in grooming behavior and cortisol (C) for females of different ranks. Our results show that the C‐amelioration associated with different grooming patterns had a gradual connection with dominance hierarchy: while higher‐ranking individuals showed lowest urinary C measures when they focused their grooming on selected partners within their social network, lower‐ranking individuals expressed lowest C levels when dispersing their grooming activity evenly across their social partners. We argue that the relatively relaxed social style of Barbary macaque societies allows individuals to flexibly adapt grooming patterns, which is associated with rank‐specific GC management. Am. J. Primatol. 77:688–700, 2015

Abstract

The auditory scene is a mental representation of individual sounds extracted from the summed sound waveform reaching the ears of the listeners. Musical contexts represent particularly complex cases of auditory scenes. In such a scenario, melody may be seen as the main object moving on a background represented by the accompaniment. Both melody and accompaniment vary in time according to harmonic rules, forming a typical texture with melody in the most prominent, salient voice. In the present sparse acquisition functional magnetic resonance imaging study, we investigated the interplay between melody and accompaniment in trained pianists, by observing the activation responses elicited by processing: (1) melody placed in the upper and lower texture voices, leading to, respectively, a higher and lower auditory salience; (2) harmonic violations occurring in either the melody, the accompaniment, or both. The results indicated that the neural activation elicited by the processing of polyphonic compositions in expert musicians depends upon the upper versus lower position of the melodic line in the texture, and showed an overall greater activation for the harmonic processing of melody over accompaniment. Both these two predominant effects were characterized by the involvement of the posterior cingulate cortex and precuneus, among other associative brain regions. We discuss the prominent role of the posterior medial cortex in the processing of melodic and harmonic information in the auditory stream, and propose to frame this processing in relation to the cognitive construction of complex multimodal sensory imagery scenes.

Abstract

Aims/hypothesis Several forkhead box (FOX) transcription factor family members have important roles in controlling pancreatic cell fates and maintaining beta cell mass and function, including FOXA1, FOXA2 and FOXM1. In this study we have examined the importance of FOXP1, FOXP2 and FOXP4 of the FOXP subfamily in islet cell development and function. Methods Mice harbouring floxed alleles for Foxp1, Foxp2 and Foxp4 were crossed with pan-endocrine Pax6-Cre transgenic mice to generate single and compound Foxp mutant mice. Mice were monitored for changes in glucose tolerance by IPGTT, serum insulin and glucagon levels by radioimmunoassay, and endocrine cell development and proliferation by immunohistochemistry. Gene expression and glucose-stimulated hormone secretion experiments were performed with isolated islets. Results Only the triple-compound Foxp1/2/4 conditional knockout (cKO) mutant had an overt islet phenotype, manifested physiologically by hypoglycaemia and hypoglucagonaemia. This resulted from the reduction in glucagon-secreting alpha cell mass and function. The proliferation of alpha cells was profoundly reduced in Foxp1/2/4 cKO islets through the effects on mediators of replication (i.e. decreased Ccna2, Ccnb1 and Ccnd2 activators, and increased Cdkn1a inhibitor). Adult islet Foxp1/2/4 cKO beta cells secrete insulin normally while the remaining alpha cells have impaired glucagon secretion. Conclusions/interpretation Collectively, these findings reveal an important role for the FOXP1, 2, and 4 proteins in governing postnatal alpha cell expansion and function.

Abstract

Do we mentally simulate olfactory information? We investigated mental simulation of odors and sounds in two experiments. Participants retained a word while they smelled an odor or heard a sound, then rated odor/sound intensity and recalled the word. Later odor/sound recognition was also tested, and pleasantness and familiarity judgments were collected. Word recall was slower when the sound and sound-word mismatched (e.g., bee sound with the word typhoon). Sound recognition was higher when sounds were paired with a match or near-match word (e.g., bee sound with bee or buzzer). This indicates sound-words are mentally simulated. However, using the same paradigm no memory effects were observed for odor. Instead it appears odor-words only affect lexical-semantic representations, demonstrated by higher ratings of odor intensity and pleasantness when an odor was paired with a match or near-match word (e.g., peach odor with peach or mango). These results suggest fundamental differences in how odor and sound-words are represented.

Abstract

Olfaction is often considered a vestigial sense in humans, demoted throughout evolution to make way for the dominant sense of vision. This perspective on olfaction is reflected in how we think and talk about smells in the West, with odor imagery and odor language reported to be difficult. In the present study we demonstrate odor cognition is superior in odor-color synaesthesia, where there are additional sensory connections to odor concepts. Synaesthesia is a neurological phenomenon in which input in 1 modality leads to involuntary perceptual associations. Semantic accounts of synaesthesia posit synaesthetic associations are mediated by activation of inducing concepts. Therefore, synaesthetic associations may strengthen conceptual representations. To test this idea, we ran 6 odor-color synaesthetes and 17 matched controls on a battery of tasks exploring odor and color cognition. We found synaesthetes outperformed controls on tests of both odor and color discrimination, demonstrating for the first time enhanced perception in both the inducer (odor) and concurrent (color) modality. So, not only do synaesthetes have additional perceptual experiences in comparison to controls, their primary perceptual experience is also different. Finally, synaesthetes were more consistent and accurate at naming odors. We propose synaesthetic associations to odors strengthen odor concepts, making them more differentiated (facilitating odor discrimination) and easier to link with lexical representations (facilitating odor naming). In summary, we show for the first time that both odor language and perception is enhanced in people with synaesthetic associations to odors

Abstract

OBJECTIVE: Genome-wide association studies (GWAS) of BMI are mostly undertaken under the assumption that "kg/m(2) " is an index of weight fully adjusted for height, but in general this is not true. The aim here was to assess the contribution of common genetic variation to a adjusted version of that phenotype which appropriately accounts for covariation in height in children. METHODS: A GWAS of height-adjusted BMI (BMI[x] = weight/height(x) ), calculated to be uncorrelated with height, in 5809 participants (mean age 9.9 years) from the Avon Longitudinal Study of Parents and Children (ALSPAC) was performed. RESULTS: GWAS based on BMI[x] yielded marked differences in genomewide results profile. SNPs in ADCY3 (adenylate cyclase 3) were associated at genome-wide significance level (rs11676272 (0.28 kg/m(3.1) change per allele G (0.19, 0.38), P = 6 × 10(-9) ). In contrast, they showed marginal evidence of association with conventional BMI [rs11676272 (0.25 kg/m(2) (0.15, 0.35), P = 6 × 10(-7) )]. Results were replicated in an independent sample, the Generation R study. CONCLUSIONS: Analysis of BMI[x] showed differences to that of conventional BMI. The association signal at ADCY3 appeared to be driven by a missense variant and it was strongly correlated with expression of this gene. Our work highlights the importance of well understood phenotype use (and the danger of convention) in characterising genetic contributions to complex traits.

Abstract

While a training model of cognitive intervention targets the improvement of particular skills through instruction and practice, an engagement model is based on the idea that being embedded in an intellectually and socially complex environment can impact cognition, perhaps even broadly, without explicit instruction. We contrasted these 2 models of cognitive enrichment by randomly assigning healthy older adults to a home-based inductive reasoning training program, a team-based competitive program in creative problem solving, or a wait-list control. As predicted, those in the training condition showed selective improvement in inductive reasoning. Those in the engagement condition, on the other hand, showed selective improvement in divergent thinking, a key ability exercised in creative problem solving. On average, then, both groups appeared to show ability-specific effects. However, moderators of change differed somewhat for those in the engagement and training interventions. Generally, those who started either intervention with a more positive cognitive profile showed more cognitive growth, suggesting that cognitive resources enabled individuals to take advantage of environmental enrichment. Only in the engagement condition did initial levels of openness and social network size moderate intervention effects on cognition, suggesting that comfort with novelty and an ability to manage social resources may be additional factors contributing to the capacity to take advantage of the environmental complexity associated with engagement. Collectively, these findings suggest that training and engagement models may offer alternative routes to cognitive resilience in late life

Abstract

This study assesses the effects of age and language exposure on VOT production in 29 simultaneous bilingual children aged 3;7 to 5;11 who speak German as a heritage language in the Netherlands. Dutch and German have a binary voicing contrast, but the contrast is implemented with different VOT values in the two languages. The results suggest that bilingual children produce ‘voiced’ plosives similarly in their two languages, and these productions are not monolingual-like in either language. Bidirectional cross-linguistic influence between Dutch and German can explain these results. Yet, the bilinguals seemingly have two autonomous categories for Dutch and German ‘voiceless’ plosives. In German, the bilinguals’ aspiration is not monolingual-like, but bilinguals with more heritage language exposure produce more target-like aspiration. Importantly, the amount of exposure to German has no effect on the majority language's ‘voiceless’ category. This implies that more heritage language exposure is associated with more language-specific voicing systems.

Abstract

How can we understand each other during communicative interactions? An influential suggestion holds that communicators are primed by each other’s behaviors, with associative mechanisms automatically coordinating the production of communicative signals and the comprehension of their meanings. An alternative suggestion posits that mutual understanding requires shared conceptualizations of a signal’s use, i.e., “conceptual pacts” that are abstracted away from specific experiences. Both accounts predict coherent neural dynamics across communicators, aligned either to the occurrence of a signal or to the dynamics of conceptual pacts. Using coherence spectral-density analysis of cerebral activity simultaneously measured in pairs of communicators, this study shows that establishing mutual understanding of novel signals synchronizes cerebral dynamics across communicators’ right temporal lobes. This interpersonal cerebral coherence occurred only within pairs with a shared communicative history, and at temporal scales independent from signals’ occurrences. These findings favor the notion that meaning emerges from shared conceptualizations of a signal’s use.

Abstract

Human intracranial electroencephalography (iEEG) recordings provide data with much greater spatiotemporal precision
than is possible from data obtained using scalp EEG, magnetoencephalography (MEG), or functional MRI. Until recently,
the fusion of anatomical data (MRI and computed tomography (CT) images) with electrophysiological data and their
subsequent analysis have required the use of technologically and conceptually challenging combinations of software.
Here, we describe a comprehensive protocol that enables complex raw human iEEG data to be converted into more readily
comprehensible illustrative representations. The protocol uses an open-source toolbox for electrophysiological data
analysis (FieldTrip). This allows iEEG researchers to build on a continuously growing body of scriptable and reproducible
analysis methods that, over the past decade, have been developed and used by a large research community. In this
protocol, we describe how to analyze complex iEEG datasets by providing an intuitive and rapid approach that can handle
both neuroanatomical information and large electrophysiological datasets. We provide a worked example using
an example dataset. We also explain how to automate the protocol and adjust the settings to enable analysis of
iEEG datasets with other characteristics. The protocol can be implemented by a graduate student or postdoctoral
fellow with minimal MATLAB experience and takes approximately an hour to execute, excluding the automated cortical
surface extraction.

Abstract

Despite the ambiguity inherent in human communication, people are remarkably efficient in establishing mutual understanding. Studying how people communicate in novel settings provides a window into the mechanisms supporting the human competence to rapidly generate and understand novel shared symbols, a fundamental property of human communication. Previous work indicates that the right posterior superior temporal sulcus (pSTS) is involved when people understand the intended meaning of novel communicative actions. Here, we set out to test whether normal functioning of this cerebral structure is required for understanding novel communicative actions using inhibitory low-frequency repetitive transcranial magnetic stimulation (rTMS). A factorial experimental design contrasted two tightly matched stimulation sites (right pSTS vs. left MT+, i.e. a contiguous homotopic task-relevant region) and tasks (a communicative task vs. a visual tracking task that used the same sequences of stimuli). Overall task performance was not affected by rTMS, whereas changes in task performance over time were disrupted according to TMS site and task combinations. Namely, rTMS over pSTS led to a diminished ability to improve action understanding on the basis of recent communicative history, while rTMS over MT+ perturbed improvement in visual tracking over trials. These findings qualify the contributions of the right pSTS to human communicative abilities, showing that this region might be necessary for incorporating previous knowledge, accumulated during interactions with a communicative partner, to constrain the inferential process that leads to action understanding.

Abstract

As participants repeatedly interact using graphical signals (as in a game of Pictionary), the signals gradually shift from being iconic (or motivated) to being symbolic (or arbitrary). The aim here is to test experimentally whether this change in the form of the signal implies a concomitant shift in the inferential mechanisms needed to understand it. The results show that, during early, iconic stages, there is more reliance on creative inferential processes associated with insight problem solving, and that the recruitment of these cognitive mechanisms decreases over time. The variation in inferential mechanism is not predicted by the sign’s visual complexity or iconicity, but by its familiarity, and by the complexity of the relevant mental representations. The discussion explores implications for pragmatics, language evolution, and iconicity research.

Abstract

This study investigates whether spoken sentence comprehension deficits in Broca's aphasics results from their inability to access the subordinate meaning of ambiguous words (e.g. bank), or alternatively, from a delay in their selection of the contextually appropriate meaning. Twelve Broca's aphasics and twelve elderly controls were presented with lexical ambiguities in three context conditions, each followed by the same target words. In the concordant condition, the sentence context biased the meaning of the sentence final ambiguous word that was related to the target. In the discordant condition, the sentence context biased the meaning of the sentence final ambiguous word that was incompatible with the target.In the unrelated condition, the sentence-final word was unambiguous and unrelated to the target. The task of the subjects was to listen attentively to the stimuli The activational status of the ambiguous sentence-final words was inferred from the amplitude of the N399 to the targets at two inter-stimulus intervals (ISIs) (100 ms and 1250 ms). At the short ISI, the Broca's aphasics showed clear evidence of activation of the subordinate meaning. In contrast to elderly controls, however, the Broca's aphasics were not successful at selecting the appropriate meaning of the ambiguity in the short ISI version of the experiment. But at the long ISI, in accordance with the performance of the elderly controls, the patients were able to successfully complete the contextual selection process. These results indicate that Broca's aphasics are delayed in the process of contextual selection. It is argued that this finding of delayed selection is compatible with the idea that comprehension deficits in Broca's aphasia result from a delay in the process of integrating lexical information.

Abstract

General knowledge acquisition entails the extraction of statistical regularities from the environment. At high levels of complexity, this may involve the extraction, and consolidation, of associative regularities across event memories. The underlying neural mechanisms would likely involve a hippocampo-neocortical dialog, as proposed previously for system-level consolidation. To test these hypotheses, we assessed possible differences in consolidation between associative memories containing cross-episodic regularities and unique associative memories. Subjects learned face–location associations, half of which responded to complex regularities regarding the combination of facial features and locations, whereas the other half did not. Importantly, regularities could only be extracted over hippocampus-encoded, associative aspects of the items. Memory was assessed both immediately after encoding and 48 h later, under fMRI acquisition. Our results suggest that processes related to system-level reorganization occur preferentially for regular associations across episodes. Moreover, the build-up of general knowledge regarding regular associations appears to involve the coordinated activity of the hippocampus and mediofrontal regions. The putative cross-talk between these two regions might support a mechanism for regularity extraction. These findings suggest that the consolidation of cross-episodic regularities may be a key mechanism underlying general knowledge acquisition.

Abstract

This volume on Inuit speech follows the evolution of a native language of the North American Arctic, from its historical roots to its present-day linguistic structure and patterns of use from Alaska to Greenland. Drawing on a wide range of research from the fields of linguistics, anthropology, and sociology, Dorais integrates these diverse perspectives in a comprehensive view of native language development, maintenance, and use under conditions of marginalization due to social transition.

Abstract

To investigate the neural underpinnings of word decoding, and how it changes as a function of repeated exposure, we trained Dutch participants repeatedly over the course of a month of training to articulate a set of novel disyllabic input strings written in Greek script to avoid the use of familiar orthographic representations. The syllables in the input were phonotactically legal combinations but non-existent in the Dutch language, allowing us to assess their role in novel word decoding. Not only trained disyllabic pseudowords were tested but also pseudowords with recombined patterns of syllables to uncover the emergence of syllabic representations. We showed that with extensive training, articulation became faster and more accurate for the trained pseudowords. On the neural level, the initial stage of decoding was reflected by increased activity in visual attention areas of occipito-temporal and occipito-parietal cortices, and in motor coordination areas of the precentral gyrus and the inferior frontal gyrus. After one month of training, memory representations for holistic information (whole word unit) were established in areas encompassing the angular gyrus, the precuneus and the middle temporal gyrus. Syllabic representations also emerged through repeated training of disyllabic pseudowords, such that reading recombined syllables of the trained pseudowords showed similar brain activation to trained pseudowords and were articulated faster than novel combinations of letter strings used in the trained pseudowords.

Abstract

The complementary learning systems account of declarative memory suggests two distinct memory networks, a fast-mapping, episodic system involving the hippocampus, and a slower semantic memory system distributed across the neocortex in which new information is gradually integrated with existing representations. In this study, we investigated the extent to which these two networks are involved in the integration of novel words into the lexicon after extensive learning, and how the involvement of these networks changes after 24 hours. In particular, we explored whether having richer information at encoding influences the lexicalization trajectory. We trained participants with two sets of novel words, one where exposure was only to the words’ phonological forms (the form-only condition), and one where pictures of unfamiliar objects were associated with the words’ phonological forms (the picture-associated condition). A behavioral measure of lexical competition (indexing lexicalization) indicated stronger competition effects for the form-only words. Imaging (fMRI) results revealed greater involvement of phonological lexical processing areas immediately after training in the form-only condition, suggesting tight connections were formed between novel words and existing lexical entries already at encoding. Retrieval of picture-associated novel words involved the episodic/hippocampal memory system more extensively. Although lexicalization was weaker in the picture-associated condition, overall memory strength was greater when tested after a 24 hours’ delay, probably due to the availability of both episodic and lexical memory networks to aid retrieval. It appears that, during lexicalization of a novel word, the relative involvement of different memory networks differs according to the richness of the information about that word available at encoding.

Abstract

Not unlike the tonal system in Chinese, Japanese habitually attaches pitch accents to the production of words. However, in contrast to Chinese, few homophonic word-pairs are really distinguished by pitch accents (Shibata & Shibata, 1990). This predicts that pitch accent plays a small role in lexical selection for Japanese language comprehension. The present study investigated whether native Japanese speakers necessarily use pitch accent in the processing of accent-contrasted homophonic pairs (e.g., ame [LH] for 'candy' and ame [HI] for 'rain') measuring electroencephalographic (EEG) potentials. Electrophysiological evidence (i.e., N400) was obtained when a word was semantically incorrect for a given context but not for incorrectly accented homophones. This suggests that pitch accent indeed plays a minor role when understanding Japanese. (C) 2013 Elsevier Ltd. All rights reserved.

Abstract

We investigate the emergence of iconicity, specifically a bouba-kiki effect in miniature artificial languages under different functional constraints: when the languages are reproduced and when they are used communicatively. We ran transmission chains of (a) participant dyads who played an interactive communicative game and (b) individual participants who played a matched learning game. An analysis of the languages over six generations in an iterated learning experiment revealed that in the Communication condition, but not in the Reproduction condition, words for spiky shapes tend to be rated by naive judges as more spiky than the words for round shapes. This suggests that iconicity may not only be the outcome of innovations introduced by individuals, but, crucially, the result of interlocutor negotiation of new communicative conventions. We interpret our results as an illustration of cultural evolution by random mutation and selection (as opposed to by guided variation).

Abstract

This study examined the role of verbal short-term memory (STM) and executive function (EF) underlying semantic and syntactic interference resolution during sentence comprehension for persons with aphasia (PWA) with varying degrees of STM and EF deficits. Semantic interference was manipulated by varying the semantic plausibility of the intervening NP as subject of the verb and syntactic interference was manipulated by varying whether the NP was another subject or an object. Nine PWA were assessed on sentence reading times and on comprehension question performance. PWA showed exaggerated semantic and syntactic interference effects relative to healthy age-matched control subjects. Importantly, correlational analyses showed that while answering comprehension questions, PWA’ semantic STM capacity related to their ability to resolve semantic but not syntactic interference. In contrast, PWA’ EF abilities related to their ability to resolve syntactic but not semantic interference. Phonological STM deficits were not related to the ability to resolve either type of interference. The results for semantic STM are consistent with prior findings indicating a role for semantic but not phonological STM in sentence comprehension, specifically with regard to maintaining semantic information prior to integration. The results for syntactic interference are consistent with the recent findings suggesting that EF is critical for syntactic processing.

Abstract

Attraction interference in language comprehension and production may be as a result of common or different processes. In the present paper, we investigate attraction interference during language comprehension, focusing on the contexts in which interference arises and the time-course of these effects. Using evidence from event-related brain potentials (ERPs) and sentence judgment times, we show that agreement attraction in comprehension is best explained as morphosyntactic interference during memory retrieval. This stands in contrast to attraction as a message-level process involving the representation of the subject NP's number features, which is a strong contributor to attraction in production. We thus argue that the cognitive antecedents of agreement attraction in comprehension are non-identical with those of attraction in production, and moreover, that attraction in comprehension is primarily a consequence of similarity-based interference in cue-based memory retrieval processes. We suggest that mechanisms responsible for attraction during language comprehension are a subset of those involved in language production.

Abstract

The rates of overspecification of color, pattern, and size are compared, to investigate how salience and absoluteness contribute to the production of overspecification. Color and pattern are absolute and salient attributes, whereas size is relative and less salient. Additionally, a tendency toward consistent responses is assessed. Using a within-participants design, we find similar rates of color and pattern overspecification, which are both higher than the rate of size overspecification. Using a between-participants design, however, we find similar rates of pattern and size overspecification, which are both lower than the rate of color overspecification. This indicates that although many speakers are more likely to include color than pattern (probably because color is more salient), they may also treat pattern like color due to a tendency toward consistency. We find no increase in size overspecification when the salience of size is increased, suggesting that speakers are more likely to include absolute than relative attributes. However, we do find an increase in size overspecification when mentioning the attributes is triggered, which again shows that speakers tend to refer in a consistent manner, and that there are circumstances in which even size overspecification is frequently produced.

Abstract

Bats are unique among mammals, possessing some of the rarest mammalian adaptations, including true self-powered flight, laryngeal echolocation, exceptional longevity, unique immunity, contracted genomes, and vocal learning. They provide key ecosystem services, pollinating tropical plants, dispersing seeds, and controlling insect pest populations, thus driving healthy ecosystems. They account for more than 20% of all living mammalian diversity, and their crown-group evolutionary history dates back to the Eocene. Despite their great numbers and diversity, many species are threatened and endangered. Here we announce Bat1K, an initiative to sequence the genomes of all living bat species (n∼1,300) to chromosome-level assembly. The Bat1K genome consortium unites bat biologists (>132 members as of writing), computational scientists, conservation organizations, genome technologists, and any interested individuals committed to a better understanding of the genetic and evolutionary mechanisms that underlie the unique adaptations of bats. Our aim is to catalog the unique genetic diversity present in all living bats to better understand the molecular basis of their unique adaptations; uncover their evolutionary history; link genotype with phenotype; and ultimately better understand, promote, and conserve bats. Here we review the unique adaptations of bats and highlight how chromosome-level genome assemblies can uncover the molecular basis of these traits. We present a novel sequencing and assembly strategy and review the striking societal and scientific benefits that will result from the Bat1K initiative.

Abstract

Although visual imagery is argued to be an essential component of autobiographical memory, there have been surprisingly few studies on autobiographical memory processes in blind individuals, who have had no or limited visual input. The purpose of the present study was to investigate how blindness affects retrieval and phenomenology of autobiographical memories. We asked 48 congenital/early blind and 48 sighted participants to recall autobiographical memories in response to six cue words, and to fill out the Autobiographical Memory Questionnaire measuring a number of variables including imagery, belief and recollective experience associated with each memory. Blind participants retrieved fewer memories and reported higher auditory imagery at retrieval than sighted participants. Moreover, within the blind group, participants with total blindness reported higher auditory imagery than those with some light perception. Blind participants also assigned higher importance, belief and recollection ratings to their memories than sighted participants. Importantly, these group differences remained the same for recent as well as childhood memories.

Abstract

Temporal cues can be used to selectively attend to relevant information during abundant sensory stimulation. However, such cues differ vastly in the accuracy of their temporal estimates, ranging from very predictable to very unpredictable. When cues are strongly predictable, attention may facilitate selective processing by aligning relevant incoming information to high neuronal excitability phases of ongoing low-frequency oscillations. However, top-down effects on ongoing oscillations when temporal cues have some predictability, but also contain temporal uncertainties, are unknown. Here, we experimentally created such a situation of mixed predictability and uncertainty: A target could occur within a limited time window after cue but was always unpredictable in exact timing. Crucially to assess top-down effects in such a mixed situation, we manipulated target probability. High target likelihood, compared with low likelihood, enhanced delta oscillations more strongly as measured by evoked power and intertrial coherence. Moreover, delta phase modulated detection rates for probable targets. The delta frequency range corresponds with half-a-period to the target occurrence window and therefore suggests that low-frequency phase reset is engaged to produce a long window of high excitability when event timing is uncertain within a restricted temporal window.

Abstract

The role of oscillatory phase for perceptual and cognitive processes is being increasingly acknowledged. To date, little is known about the direct role of phase in categorical perception. Here we show in two separate experiments that the identification of ambiguous syllables that can either be perceived as / da/ or / ga/ is biased by the underlying oscillatory phase as measured with EEG and sensory entrainment to rhythmic stimuli. The measured phase difference in which perception is biased toward / da/ or / ga/ exactly matched the different temporal onset delays in natural audiovisual speech between mouth movements and speech sounds, which last 80 ms longer for / ga/ than for / da/. These results indicate the functional relationship between prestimulus phase and syllable identification, and signify that the origin of this phase relationship could lie in exposure and subsequent learning of unique audiovisual temporal onset differences.

Abstract

Temporal structure in the environment often has predictive value for anticipating the occurrence of forthcoming events. In this study we investigated the influence of two types of predictive temporal information on the perception of near-threshold auditory stimuli: 1) intrinsic temporal rhythmicity within an auditory stimulus stream and 2) temporally-predictive visual cues. We hypothesized that combining predictive temporal information within- and across-modality should decrease the threshold at which sounds are detected, beyond the advantage provided by each information source alone. Two experiments were conducted in which participants had to detect tones in noise. Tones were presented in either rhythmic or random sequences and were preceded by a temporally predictive visual signal in half of the trials. We show that detection intensities are lower for rhythmic (vs. random) and audiovisual (vs. auditory-only) presentation, independent from response bias, and that this effect is even greater for rhythmic audiovisual presentation. These results suggest that both types of temporal information are used to optimally process sounds that occur at expected points in time (resulting in enhanced detection), and that multiple temporal cues are combined to improve temporal estimates. Our findings underscore the flexibility and proactivity of the perceptual system which uses within- and across-modality temporal cues to anticipate upcoming events and process them optimally. (C) 2014 Elsevier Ltd. All rights reserved.

Abstract

Gesture is an important precursor of children’s early language development, for example, in the transition to multiword speech and as a predictor of later language abilities. However, it is unclear whether gestural input can influence children’s comprehension of complex grammatical constructions. In Study 1, 3- (M = 3 years 5 months) and 4-year-old (M = 4 years 6 months) children witnessed 2-participant actions described using the infrequent object-cleft-construction (OCC; It was the dog that the cat chased). Half saw an experimenter accompanying her descriptions with gestures representing the 2 participants and indicating the direction of action; the remaining children did not witness gesture. Children who witnessed gestures showed better comprehension of the OCC than those who did not witness gestures, both in and beyond the immediate physical context, but this benefit was restricted to the oldest 4-year-olds. In Study 2, a further group of older 4-year-old children (M = 4 years 7 months) witnessed the same 2-participant actions described by an experimenter and accompanied by gestures, but the gesture represented only the 2 participants and not the direction of the action. Again, a benefit of gesture was observed on subsequent comprehension of the OCC. We interpret these findings as demonstrating that representational cospeech gestures can help children comprehend complex linguistic structures by highlighting the roles played by the participants in the event.

Abstract

To test the hypothesis that thalamic midline nuclei play a transient role in memory consolidation, we reanalyzed a prospective functional MRI study, contrasting recent and progressively more remote memory retrieval. We revealed a transient thalamic connectivity increase with the hippocampus, the medial prefrontal cortex (mPFC), and a parahippocampal area, which decreased with time. In turn, mPFC-parahippocampal connectivity increased progressively. These findings support a model in which thalamic midline nuclei serve as a hub linking hippocampus, mPFC, and posterior representational areas during memory retrieval at an early (2 h) stage of consolidation, extending classical systems consolidation models by attributing a transient role to midline thalamic nuclei.

Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA’s first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way

Abstract

Infants expect people to direct actions toward objects, and they respond to actions directed to themselves, but do they have expectations about actions directed to third parties? In two experiments, we used eye tracking to investigate 1- and 2-year-olds’ expectations about communicative actions addressed to a third party. Experiment 1 presented infants with videos where an adult (the Emitter) either uttered a sentence or produced non-speech sounds. The Emitter was either face-to-face with another adult (the Recipient) or the two were back-to-back. The Recipient did not respond to any of the sounds. We found that 2-, but not 1-year-olds looked quicker and longer at the Recipient following speech than non-speech, suggesting that they expected her to respond to speech. These effects were specific to the face-to-face context. Experiment 2 presented 1-year-olds with similar face-to-face exchanges but modified to engage infants and minimize task demands. The infants looked quicker to the Recipient following speech than non-speech, suggesting that they expected a response to speech. The study suggests that by 1 year of age infants expect communicative actions to be directed at a third-party listener.

Abstract

We investigated 14-month-old infants’ expectations toward a third party addressee of communicative gestures and an instrumental action. Infants’ eye movements were tracked as they observed a person (the Gesturer) point, direct a palm-up request gesture, or reach toward an object, and another person (the Addressee) respond by grasping it. Infants’ looking patterns indicate that when the Gesturer pointed or used the palm-up request, infants anticipated that the Addressee would give the object to the Gesturer, suggesting that they ascribed a motive of request to the gestures. In contrast, when the Gesturer reached for the object, and in a control condition where no action took place, the infants did not anticipate the Addressee’s response. The results demonstrate that infants’ recognition of communicative gestures extends to others’ interactions, and that infants can anticipate how third-party addressees will respond to others’ gestures.

Abstract

Establishing non-native phoneme categories can be a notoriously difficult endeavour—in both speech perception and speech production. This study asks how these two domains interact in the course of this learning process. It investigates the effect of perceptual learning and related production practice of a challenging non-native category on the perception and/or production of that category. A four-day perceptual training protocol on the British English /æ/-/ɛ/ vowel contrast was combined with either related or unrelated production practice. After feedback on perceptual categorisation of the contrast, native Dutch participants in the related production group (N = 19) pronounced the trial's correct answer, while participants in the unrelated production group (N = 19) pronounced similar but phonologically unrelated words. Comparison of pre- and post-tests showed significant improvement over the course of training in both perception and production, but no differences between the groups were found. The lack of an effect of production practice is discussed in the light of previous, competing results and models of second-language speech perception and production. This study confirms that, even in the context of related production practice, perceptual training boosts production learning.

Abstract

The way top-down and bottom-up processes interact to shape our perception and behaviour is a fundamental question and remains highly controversial. How early in a processing stream do such interactions occur, and what factors govern such interactions? The degree of abstractness of a perceptual attribute (for example, orientation versus shape in vision, or loudness versus sound identity in hearing) may determine the locus of neural processing and interaction between bottom-up and internal information. Using an imagery-perception repetition paradigm, we find that imagined speech affects subsequent auditory perception, even for a low-level attribute such as loudness. This effect is observed in early auditory responses in magnetoencephalography and electroencephalography that correlate with behavioural loudness ratings. The results suggest that the internal reconstruction of neural representations without external stimulation is flexibly regulated by task demands, and that such top-down processes can interact with bottom-up information at an early perceptual stage to modulate perception.

Abstract

Germline mutations in PTEN, which encodes a widely expressed phosphatase, was mapped to 10q23 and identified as the susceptibility gene for Cowden syndrome, characterized by macrocephaly and high risks of breast, thyroid, and other cancers. The phenotypic spectrum of PTEN mutations expanded to include autism with macrocephaly only 10 years ago. Neurological studies of patients with PTEN-associated autism spectrum disorder (ASD) show increases in cortical white matter and a distinctive cognitive profile, including delayed language development with poor working memory and processing speed. Once a germline PTEN mutation is found, and a diagnosis of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome made, the clinical outlook broadens to include higher lifetime risks for multiple cancers, beginning in childhood with thyroid cancer. First described as a tumor suppressor, PTEN is a major negative regulator of the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin (mTOR) signaling pathway—controlling growth, protein synthesis, and proliferation. This canonical function combines with less well-understood mechanisms to influence synaptic plasticity and neuronal cytoarchitecture. Several excellent mouse models of Pten loss or dysfunction link these neural functions to autism-like behavioral abnormalities, such as altered sociability, repetitive behaviors, and phenotypes like anxiety that are often associated with ASD in humans. These models also show the promise of mTOR inhibitors as therapeutic agents capable of reversing phenotypes ranging from overgrowth to low social behavior. Based on these findings, therapeutic options for patients with PTEN hamartoma tumor syndrome and ASD are coming into view, even as new discoveries in PTEN biology add complexity to our understanding of this master regulator.

Abstract

PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant genetic condition underlying a subset of autism spectrum disorder (ASD) with macrocephaly. Caused by germline mutations in PTEN, PHTS also causes increased risks of multiple cancers via dysregulation of the PI3K and MAPK signaling pathways. Conditional knockout models have shown that neural Pten regulates social behavior, proliferation and cell size. Although much is known about how the intracellular localization of PTEN regulates signaling in cancer cell lines, we know little of how PTEN localization influences normal brain physiology and behavior. To address this, we generated a germline knock-in mouse model of cytoplasm-predominant Pten and characterized its behavioral and cellular phenotypes. The homozygous Ptenm3m4 mice have decreased total Pten levels including a specific drop in nuclear Pten and exhibit region-specific increases in brain weight. The Ptenm3m4 model displays sex-specific increases in social motivation, poor balance and normal recognition memory—a profile reminiscent of some individuals with high functioning ASD. The cytoplasm-predominant protein caused cellular hypertrophy limited to the soma and led to increased NG2 cell proliferation and accumulation of glia. The animals also exhibit significant astrogliosis and microglial activation, indicating a neuroinflammatory phenotype. At the signaling level, Ptenm3m4 mice show brain region-specific differences in Akt activation. These results demonstrate that differing alterations to the same autism-linked gene can cause distinct behavioral profiles. The Ptenm3m4 model is the first murine model of inappropriately elevated social motivation in the context of normal cognition and may expand the range of autism-related behaviors replicated in animal models.

Abstract

Synesthesia is a rare nonpathological phenomenon where stimulation of one sense automatically provokes a secondary perception in another. Hypothesized to result from differences in cortical wiring during development, synesthetes show atypical structural and functional neural connectivity, but the underlying molecular mechanisms are unknown. The trait also appears to be more common among people with autism spectrum disorder and savant abilities. Previous linkage studies searching for shared loci of large effect size across multiple families have had limited success. To address the critical lack of candidate genes, we applied whole-exome sequencing to three families with sound–color (auditory–visual) synesthesia affecting multiple relatives across three or more generations. We identified rare genetic variants that fully cosegregate with synesthesia in each family, uncovering 37 genes of interest. Consistent with reports indicating genetic heterogeneity, no variants were shared across families. Gene ontology analyses highlighted six genes—COL4A1, ITGA2, MYO10, ROBO3, SLC9A6, and SLIT2—associated with axonogenesis and expressed during early childhood when synesthetic associations are formed. These results are consistent with neuroimaging-based hypotheses about the role of hyperconnectivity in the etiology of synesthesia and offer a potential entry point into the neurobiology that organizes our sensory experiences.

Abstract

The neural response to a stimulus is influenced by endogenous factors such as expectation and attention. Current research suggests that expectation and attention exert their effects in opposite directions, where expectation decreases neural activity in sensory areas, while attention increases it. However, expectation and attention are usually studied either in isolation or confounded with each other. A recent study suggests that expectation and attention may act jointly on sensory processing, by increasing the neural response to expected events when they are attended, but decreasing it when they are unattended. Here we test this hypothesis in an auditory temporal cueing paradigm using magnetoencephalography in humans. In our study participants attended to, or away from, tones that could arrive at expected or unexpected moments. We found a decrease in auditory beta band synchrony to expected (versus unexpected) tones if they were unattended, but no difference if they were attended. Modulations in beta power were already evident prior to the expected onset times of the tones. These findings suggest that expectation and attention jointly modulate sensory processing.

Abstract

In 3 experiments, we investigated whether intonational phrase structure can be primed. In all experiments, participants listened to sentences in which the presence and location of intonational phrase boundaries were manipulated such that the recording included either no intonational phrase boundaries, a boundary in a structurally dispreferred location, a boundary in a preferred location, or boundaries in both locations. In Experiment 1, participants repeated the sentences to test whether they would reproduce the prosodic structure they had just heard. Experiments 2 and 3 used a prime–target paradigm to evaluate whether the intonational phrase structure heard in the prime sentence might influence that of a novel target sentence. Experiment 1 showed that participants did repeat back sentences that they had just heard with the original intonational phrase structure, yet Experiments 2 and 3 found that exposure to intonational phrase boundaries on prime trials did not influence how a novel target sentence was prosodically phrased. These results suggest that speakers may retain the intonational phrasing of a sentence, but this effect is not long-lived and does not generalize across unrelated sentences. Furthermore, these findings provide no evidence that intonational phrase structure is formulated during a planning stage that is separate from other sources of linguistic information.

Abstract

In this study, we investigate the timing of pre-answer inbreaths in order to shed light on the time course of response planning and execution in conversational turn-taking. Using acoustic and inductive plethysmography recordings of seven dyadic conversations in Dutch, we show that pre-answer inbreaths in conversation typically begin briefly after the end of questions. We also show that the presence of a pre-answer inbreath usually co-occurs with substantially delayed answers, with a modal latency of 576 ms vs. 100 ms for answers not preceded by an inbreath. Based on previously reported minimal latencies for internal intercostal activation and the production of speech sounds, we propose that vocal responses, either in the form of a pre-utterance inbreath or of speech proper when an inbreath is not produced, are typically launched in reaction to information present in the last portion of the interlocutor’s turn. We also show that short responses are usually made on residual breath, while longer responses are more often preceded by an inbreath. This relation of inbreaths to answer length suggests that by the time an inbreath is launched, typically during the last few hundred milliseconds of the question, the length of the answer is often prepared to some extent. Together, our findings are consistent with a two-stage model of response planning in conversational turn-taking: early planning of content often carried out in overlap with the incoming turn, and late launching of articulation based on the identification of turn-final cues

Abstract

This paper explores phrase-length-related alternations in the association of tones to positions in metrical structure in two melodic constructions of Spanish. An imitation-and-completion task eliciting (a) the low–falling–rising contour and (b) the circumflex contour on intonation phrases (IPs) of one, two, and three prosodic words revealed that, although the focus structure and pragmatic context is constant across conditions, phrases containing one prosodic word differ in their nuclear (i.e. final) pitch accents and edge tones from phrases containing more than one prosodic word. For contour (a), short intonation phrases (e.g. [ Ma no lo ] IP ) were produced with a low accent followed by a high edge tone (L ∗ H% in ToBI notation), whereas longer phrases (e.g. [ El her ma no de la a m igadeMa no lo ] IP ‘Manolo’s friend’s brother’) had a low accent on the first stressed syllable, a rising accent on the last stressed syllable, and a low edge tone (L ∗ L+H ∗ L%). For contour (b), short phrases were produced with a high–rise (L+H ∗ ¡H%), whereas longer phrases were produced with an initial accentual rise followed by an upstepped rise–fall (L+H ∗ ¡H ∗ L%). These findings imply that the common practice of describing the structure of intonation contours as consisting of a constant nuclear pitch accent and following edge tone is not adequate for modeling Spanish intonation. To capture the observed melodic alternations, we argue for clearer separation between tones and metrical structure, whereby intonational tones do not necessarily have an intrinsic culminative or delimitative function (i.e. as pitch accents or as edge tones). Instead, this function results from melody-specific principles of tonal–metrical association.

Abstract

We investigate the extent to which French polar questions and continuation statements, two types of utterances with similar morphosyntactic and intonational forms but different pragmatic functions, can be distinguished in conversational data based on phonetic and visual bodily information. We show that the two utterance types can be distinguished well over chance level by automatic classification models including several phonetic and visual cues. We also show that a considerable amount of relevant phonetic and visual information is present before the last portion of the utterances, potentially assisting early speech act recognition by addressees. These findings indicate that bottom-up phonetic and visual cues may play an important role during the production and recognition of speech acts alongside top-down contextual information.

Abstract

Neuregulin 1 (NRG1) and v-erb-a erythroblastic leukemia viral oncogene homolog 4 (ErbB4) have been extensively studied in schizophrenia susceptibility because of their pivotal role in key neurodevelopmental processes. One of the reasons for the inconsistencies in results could be the fact that the phenotype investigated has mostly the diagnosis of schizophrenia per se, which is widely heterogeneous, both clinically and biologically. In the present study we tested, in a large cohort of 461 schizophrenia patients recruited in Scotland, whether several SNPs in NRG1 and/or ErbB4 are associated with schizophrenia symptom dimensions as evaluated by the Positive and Negative Syndrome Scale (PANSS). We then followed up nominally significant results in a second cohort of 439 schizophrenia subjects recruited in Germany. Using linear regression, we observed two different groups of polymorphisms in NRG1 gene: one showing a nominal association with higher scores of the PANSS positive dimension and the other one with higher scores of the PANSS negative dimension. Regarding ErbB4, a small cluster located in the 5' end of the gene was detected, showing nominal association mainly with negative, general and total dimensions of the PANSS. These findings suggest that some regions of NRG1 and ErbB4 are functionally involved in biological processes that underlie some of the phenotypic manifestations of schizophrenia. Because of the lack of significant association after correction for multiple testing, our analyses should be considered as exploratory and hypothesis generating for future studies.