Publications

Abstract

Recognizing other individuals is an essential skill in humans and in other species [1, 2 and 3]. Over the last decade, it has become increasingly clear that person-identity recognition abilities are highly variable. Roughly 2% of the population has developmental prosopagnosia, a congenital deficit in recognizing others by their faces [4]. It is currently unclear whether developmental phonagnosia, a deficit in recognizing others by their voices [5], is equally prevalent, or even whether it actually exists. Here, we aimed to identify cases of developmental phonagnosia. We collected more than 1,000 data sets from self-selected German individuals by using a web-based screening test that was designed to assess their voice-recognition abilities. We then examined potentially phonagnosic individuals by using a comprehensive laboratory test battery. We found two novel cases of phonagnosia: AS, a 32-year-old female, and SP, a 32-year-old male; both are otherwise healthy academics, have normal hearing, and show no pathological abnormalities in brain structure. The two cases have comparable patterns of impairments: both performed at least 2 SDs below the level of matched controls on tests that required learning new voices, judging the familiarity of famous voices, and discriminating pitch differences between voices. In both cases, only voice-identity processing per se was affected: face recognition, speech intelligibility, emotion recognition, and musical ability were all comparable to controls. The findings confirm the existence of developmental phonagnosia as a modality-specific impairment and allow a first rough prevalence estimate.

Abstract

Effective pain communication is essential if adequate treatment and support are to be provided. Pain communication is often multimodal, with sufferers utilising speech, nonverbal behaviours (such as facial expressions), and co-speech gestures (bodily movements, primarily of the hands and arms that accompany speech and can convey semantic information) to communicate their experience. Research suggests that the production of nonverbal pain behaviours is positively associated with pain intensity, but it is not known whether this is also the case for speech and co-speech gestures. The present study explored whether increased pain intensity is associated with greater speech and gesture production during face-to-face communication about acute, experimental pain. Participants (N = 26) were exposed to experimentally elicited pressure pain to the fingernail bed at high and low intensities and took part in video-recorded semi-structured interviews. Despite rating more intense pain as more difficult to communicate (t(25) = 2.21, p = .037), participants produced significantly longer verbal pain descriptions and more co-speech gestures in the high intensity pain condition (Words: t(25) = 3.57, p = .001; Gestures: t(25) = 3.66, p = .001). This suggests that spoken and gestural communication about pain is enhanced when pain is more intense. Thus, in addition to conveying detailed semantic information about pain, speech and co-speech gestures may provide a cue to pain intensity, with implications for the treatment and support received by pain sufferers. Future work should consider whether these findings are applicable within the context of clinical interactions about pain.

Abstract

Pain is a private and subjective experience about which effective communication is vital, particularly in medical settings. Speakers often represent information about pain sensation in both speech and co-speech hand gestures simultaneously, but it is not known whether gestures merely replicate spoken information or complement it in some way. We examined the representational contribution
of gestures in a range of consecutive analyses. Firstly, we found that 78% of speech units containing pain sensation were accompanied by gestures, with 53% of these gestures representing pain sensation. Secondly, in 43% of these instances, gestures represented pain sensation information that was not contained in speech, contributing additional, complementary information to the pain sensation message.
Finally, when applying a specificity analysis, we found that in contrast with research in different domains of talk, gestures did not make the pain sensation information in speech more specific. Rather, they complemented the verbal pain message by representing different
aspects of pain sensation, contributing to a fuller representation of pain sensation than speech alone. These findings highlight the importance of gestures in communicating about pain sensation and suggest that this modality provides additional information to supplement and clarify the often ambiguous verbal pain message

Abstract

The ability to explain the occurrence of errors in children’s speech is an essential component of successful theories of language acquisition. The present study tested some generativist and constructivist predictions about error on the questions produced by ten English-learning children between 2 and 5 years of age. The analyses demonstrated that, as predicted by some generativist theories [e.g. Santelmann, L., Berk, S., Austin, J., Somashekar, S. & Lust. B. (2002). Continuity and development in the acquisition of inversion in yes/no questions: dissociating movement and inflection, Journal of Child Language, 29, 813–842], questions with auxiliary DO attracted higher error rates than those with modal auxiliaries. However, in wh-questions, questions with modals and DO attracted equally high error rates, and these findings could not be explained in terms of problems forming questions with why or negated auxiliaries. It was concluded that the data might be better explained in terms of a constructivist account that suggests that entrenched item-based constructions may be protected from error in children’s speech, and that errors occur when children resort to other operations to produce questions [e.g. Dąbrowska, E. (2000). From formula to schema: the acquisition of English questions. Cognitive Liguistics, 11, 83–102; Rowland, C. F. & Pine, J. M. (2000). Subject-auxiliary inversion errors and wh-question acquisition: What children do know? Journal of Child Language, 27, 157–181; Tomasello, M. (2003). Constructing a language: A usage-based theory of language acquisition. Cambridge, MA: Harvard University Press]. However, further work on constructivist theory development is required to allow researchers to make predictions about the nature of these operations.

Abstract

To correctly interpret a message, people must attend to the context in which it was produced. Here we investigate how this process, known as pragmatic reasoning, is guided by two universal forces in human communication: incrementality and efficiency, with speakers of all languages interpreting language incrementally and making the most efficient use of the incoming information. Crucially, however, the interplay between these two forces results in speakers of different languages having different pragmatic information available at each point in processing, including inferences about speaker intentions. In particular, the position of adjectives relative to nouns (e.g., “black lamp” vs. “lamp black”) makes visual context information available in reverse orders. In an eye-tracking study comparing four unrelated languages that have been understudied with regard to language processing (Catalan, Hindi, Hungarian, and Wolof), we show that speakers of languages with an adjective–noun order integrate context by first identifying properties (e.g., color, material, or size), whereas speakers of languages with a noun–adjective order integrate context by first identifying kinds (e.g., lamps or chairs). Most notably, this difference allows listeners of adjective–noun descriptions to infer the speaker’s intention when using an adjective (e.g., “the black…” as implying “not the blue one”) and anticipate the target referent, whereas listeners of noun–adjective descriptions are subject to temporary ambiguity when deriving the same interpretation. We conclude that incrementality and efficiency guide pragmatic reasoning across languages, with different word orders having different pragmatic affordances.

Abstract

This study investigated the extent to which 3- and 4-year-old children may rely on associative memory representations to pass an unexpected-contents false-belief task. In Experiment 1, 4-year-olds performed at chance in both a standard Smarties task and a modified version highlighting the secrecy of the contents of the tube. These results were interpreted as evidence that having to infer the answer to a false-belief question (without relying on memory representations) is generally difficult for preschool children. In Experiments 2a, 2b, and 2c, 3-year-olds were tested at 3-month intervals during their first year of preschool and showed better performance in a narrative version of the Smarties task (chance level) than in the standard version (below-chance level). These children performed even better in an associative version of the narrative task (above-chance level) where they could form a memory representation associating the protagonist with the expected contents of a box. The results of a true-belief control suggest that some of these children may have relied on their memory of the protagonist’s preference for the original contents of the box (rather than their understanding of what the protagonist was expecting to find inside). This suggests that when 3-year-olds passed the associative unexpected-contents task, some may have been keeping track of the protagonist’s initial preference and not only (or not necessarily) of the protagonist’s false belief. These results are interpreted in the light of current accounts of Theory of Mind development and failed replications of verbal false-belief tasks.

Abstract

The Violation-of-Expectation paradigm is a widespread paradigm in infancy research that relies on looking time as an index of surprise. This methodological review aims to increase the reliability of future VoE studies by proposing to standardize reporting practices in this literature. I review 15 VoE studies on false-belief reasoning, which used a variety of experimental parameters. An analysis of the distribution of p-values across experiments suggests an absence of p-hacking. However, there are potential concerns with the accuracy of their measures of infants’ attention, as well as with the lack of a consensus on the parameters that should be used to set up VoE studies. I propose that (i) future VoE studies ought to report not only looking times (as a measure of attention) but also looking-away times (as an equally important measure of distraction); (ii) VoE studies must offer theoretical justification for the parameters they use, and (iii) when parameters are selected through piloting, pilot data must be reported in order to understand how parameters were selected. Future VoE studies ought to maximize the accuracy of their measures of infants’ attention since the reliability of their results and the validity of their conclusions both depend on the accuracy of their measures.

Abstract

There is an ongoing debate, both in philosophy and psychology, as to whether people are able to automatically infer what others may know, or whether they can only derive belief inferences by deploying cognitive resources. Evidence from laboratory tasks, often involving false beliefs or visual-perspective taking, has suggested that belief inferences are cognitively costly, controlled processes. Here we suggest that in everyday conversation, belief reasoning is pervasive and therefore potentially automatic in some cases. To test this hypothesis, we conducted two pre-registered self-paced reading experiments (N1 = 91, N2 = 89). The results of these experiments showed that participants slowed down when a stranger commented ‘That greasy food is bad for your ulcer’ relative to conditions where a stranger commented on their own ulcer or a friend made either comment – none of which violated participants’ common-ground expectations. We conclude that Theory of Mind models need to account for belief reasoning in conversation as it is at the center of everyday social interaction

Abstract

A pragmatic account of referential communication is developed which presents an alternative to traditional Gricean accounts by focusing on cooperativeness and efficiency, rather than informativity. The results of four language-production experiments support the view that speakers can be cooperative when producing redundant adjectives, doing so more often when color modification could facilitate the listener's search for the referent in the visual display (Experiment 1a). By contrast, when the listener knew which shape was the target, speakers did not produce redundant color adjectives (Experiment 1b). English speakers used redundant color adjectives more often than Spanish speakers, suggesting that speakers are sensitive to the differential efficiency of prenominal and postnominal modification (Experiment 2). Speakers were also cooperative when using redundant size adjectives (Experiment 3). Overall, these results show how discriminability affects a speaker's choice of referential expression above and beyond considerations of informativity, supporting the view that redundant speakers can be cooperative.

Abstract

Various accounts of metaphor interpretation propose that it involves constructing an ad hoc concept on the basis of the concept encoded by the metaphor vehicle (i.e. the expression used for conveying the metaphor). This paper discusses some of the differences between these theories and investigates their main empirical prediction: that metaphor interpretation involves enhancing properties of the metaphor vehicle that are relevant for interpretation, while suppressing those that are irrelevant. This hypothesis was tested in a cross-modal lexical priming study adapted from early studies on lexical ambiguity. The different patterns of suppression of irrelevant meanings observed in disambiguation studies and in the experiment on metaphor reported here are discussed in terms of differences between meaning selection and meaning construction.

Abstract

In this paper, I compare three different assumptions about the relationship between speech, thought and gesture. These assumptions have profound consequences for theories about the representations and processing involved in gesture and speech production. I associate these assumptions with three simplified processing architectures. In the Window Architecture, gesture provides us with a 'window into the mind'. In the Language Architecture, properties of language have an influence on gesture. In the Postcard Architecture, gesture and speech are planned by a single process to become one multimodal message. The popular Window Architecture is based on the assumption that gestures come, as it were, straight out of the mind. I argue that during the creation of overt imagistic gestures, many processes, especially those related to (a) recipient design, and (b) effects of language structure, cause an observable gesture to be very different from the original thought that it expresses. The Language Architecture and the Postcard Architecture differ from the Window Architecture in that they both incorporate a central component which plans gesture and speech together, however they differ from each other in the way they align gesture and speech. The Postcard Architecture assumes that the process creating a multimodal message involving both gesture and speech has access to the concepts that are available in speech, while the Language Architecture relies on interprocess communication to resolve potential conflicts between the content of gesture and speech.

Abstract

Although the high-variability training method can enhance learning of non-native speech categories, this can depend on individuals’ aptitude. The current study asked how general the effects of perceptual aptitude are by testing whether they occur with training materials spoken by native speakers and whether they depend on the nature of the to-be-learned material. Forty-five native Dutch listeners took part in a five-day training procedure in which they identified bisyllabic Mandarin pseudowords (e.g., asa) pronounced with different lexical tone combinations. The training materials were presented to different groups of listeners at three levels of variability: low (many repetitions of a limited set of words recorded by a single speaker), medium (fewer repetitions of a more variable set of words recorded by 3 speakers) and high (similar to medium but with 5 speakers). Overall, variability did not influence learning performance, but this was due to an interaction with individuals’ perceptual aptitude: increasing variability hindered improvements in performance for low-aptitude perceivers while it helped improvements in performance for high-aptitude perceivers. These results show that the previously observed interaction between individuals’ aptitude and effects of degree of variability extends to natural tokens of Mandarin speech. This interaction was not found, however, in a closely-matched study in which native Dutch listeners were trained on the Japanese geminate/singleton consonant contrast. This may indicate that the effectiveness of high-variability training depends not only on individuals’ aptitude in speech perception but also on the nature of the categories being acquired.

Abstract

We study how people attend to and memorize endings of events that differ in the degree to which objects in them are affected by an action: Resultative events show objects that undergo a visually salient change in state during the course of the event (peeling a potato), and non‐resultative events involve objects that undergo no, or only partial state change (stirring in a pan). We investigate general cognitive principles, and potential language‐specific influences, in verbal and nonverbal event encoding and memory, across two experiments with Dutch and Estonian participants. Estonian marks a viewer's perspective on an event's result obligatorily via grammatical case on direct object nouns: Objects undergoing a partial/full change in state in an event are marked with partitive/accusative case, respectively. Therefore, we hypothesized increased saliency of object states and event results in Estonian speakers, as compared to speakers of Dutch. Findings show (a) a general cognitive principle of attending carefully to endings of resultative events, implying cognitive saliency of object states in event processing; (b) a language‐specific boost on attention and memory of event results under verbal task demands in Estonian speakers. Results are discussed in relation to theories of event cognition, linguistic relativity, and thinking for speaking.

Abstract

Eye movements were monitored as participants followed spoken instructions to manipulate one of four objects pictured on a computer screen. Target words occurred in utterance-medial (e.g., Put the cap next to the square) or utterance-final position (e.g., Now click on the cap). Displays consisted of the target picture (e.g., a cap), a monosyllabic competitor picture (e.g., a cat), a polysyllabic competitor picture (e.g., a captain) and a distractor (e.g., a beaker). The relative proportion of fixations to the two types of competitor pictures changed as a function of the position of the target word in the utterance, demonstrating that lexical competition is modulated by prosodically conditioned phonetic variation.

Abstract

We conducted a field trial in computer-assisted professional translation to compare interactive translation prediction (ITP) against conventional post-editing (PE) of machine translation (MT) output. In contrast to the conventional PE set-up, where an MT system first produces a static translation hypothesis that is then edited by a professional (hence “post-editing”), ITP constantly updates the translation hypothesis in real time in response to user edits. Our study involved nine professional translators and four reviewers working with the web-based CasMaCat workbench. Various new interactive features aiming to assist the post-editor/translator were also tested in this trial. Our results show that even with little training, ITP can be as productive as conventional PE in terms of the total time required to produce the final translation. Moreover, translation editors working with ITP require fewer key strokes to arrive at the final version of their translation.

Abstract

The structure of relative clauses has attracted considerable attention in recent years, and a number of authors have carried out analyses of the syntax of relativization. In our investigation of syntactic structure and change in New Guinea Tok Pisin, we find that the basic processes involved in relativization have much broader discourse functions, and that relativization is only a special instance of the application of general ‘bracketing’ devices used in the organization of information. Syntactic structure, in this case, can be understood as a component of, and derivative from, discourse structure.

Abstract

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Abstract

Several theorists have proposed that distinctions are needed between different positive emotional states, and that these discriminations may be particularly useful in the domain of vocal signals (Ekman, 1992b, Cognition and Emotion, 6, 169–200; Scherer, 1986, Psychological Bulletin, 99, 143–165). We report an investigation into the hypothesis that positive basic emotions have distinct vocal expressions (Ekman, 1992b, Cognition and Emotion, 6, 169–200). Non-verbal vocalisations are used that map onto five putative positive emotions: Achievement/Triumph, Amusement, Contentment, Sensual Pleasure, and Relief. Data from categorisation and rating tasks indicate that each vocal expression is accurately categorised and consistently rated as expressing the intended emotion. This pattern is replicated across two language groups. These data, we conclude, provide evidence for the existence of robustly recognisable expressions of distinct positive emotions.

Abstract

The epigenetic enzyme p300/CBP-associated factor (PCAF) belongs to the GCN5-related N-acetyltransferase (GNAT) family together with GCN5. Although its transcriptional and post-translational function is well characterized, little is known about its properties as regulator of cell metabolism. Here, we report the mitochondrial localization of PCAF conferred by an 85 aa mitochondrial targeting sequence (MTS) at the N-terminal region of the protein. In mitochondria, one of the PCAF targets is the isocitrate dehydrogenase 2 (IDH2) acetylated at lysine 180. This PCAF-regulated post-translational modification might reduce IDH2 affinity for isocitrate as a result of a conformational shift involving predictively the tyrosine at position 179. Site-directed mutagenesis and functional studies indicate that PCAF regulates IDH2, acting at dual level during myoblast differentiation: at a transcriptional level together with MyoD, and at a post-translational level by direct modification of lysine acetylation in mitochondria. The latter event determines a decrease in IDH2 function with negative consequences on muscle fiber formation in C2C12 cells. Indeed, a MTS-deprived PCAF does not localize into mitochondria, remains enriched into the nucleus, and contributes to a significant increase of muscle-specific gene expression enhancing muscle differentiation. The role of PCAF in mitochondria is a novel finding shedding light on metabolic processes relevant to early muscle precursor differentiation.—Savoia, M., Cencioni, C., Mori, M., Atlante, S., Zaccagnini, G., Devanna, P., Di Marcotullio, L., Botta, B., Martelli, F., Zeiher, A. M., Pontecorvi, A., Farsetti, A., Spallotta, F., Gaetano, C. P300/CBP-associated factor regulates transcription and function of isocitrate dehydrogenase 2 during muscle differentiation.

Abstract

Speech technology plays an important role in our everyday life. Among others, speech is used for human-computer interaction, for instance for information retrieval and on-line shopping. In the case of an unwritten language, however, speech technology is unfortunately difficult to create, because it cannot be created by the standard combination of pre-trained speech-to-text and text-to-speech subsystems. The research presented in this article takes the first steps towards speech technology for unwritten languages. Specifically, the aim of this work was 1) to learn speech-to-meaning representations without using text as an intermediate representation, and 2) to test the sufficiency of the learned representations to regenerate speech or translated text, or to retrieve images that depict the meaning of an utterance in an unwritten language. The results suggest that building systems that go directly from speech-to-meaning and from meaning-to-speech, bypassing the need for text, is possible.

Abstract

This paper addresses the problem of recognizing a vocabulary of over 50,000 city names in a telephone access spoken dialogue system. We adopt a two-stage framework in which only major cities are represented in the first stage lexicon. We rely on an unknown word model encoded as a phone loop to detect OOV city names (referred to as ‘rare city’ names). We use SpeM, a tool that can extract words and word-initial cohorts from phone graphs from a large fallback lexicon, to provide an N-best list of promising city name hypotheses on the basis of the phone graph corresponding to the OOV. This N-best list is then inserted into the second stage lexicon for a subsequent recognition pass. Experiments were conducted on a set of spontaneous telephone-quality utterances; each containing one rare city name. It appeared that SpeM was able to include nearly 75% of the correct city names in an N-best hypothesis list of 3000 city names. With the names found by SpeM to extend the lexicon of the second stage recognizer, a word accuracy of 77.3% could be obtained. The best one-stage system yielded a word accuracy of 72.6%. The absolute number of correctly recognized rare city names almost doubled, from 62 for the best one-stage system to 102 for the best two-stage system. However, even the best two-stage system recognized only about one-third of the rare city names retrieved by SpeM. The paper discusses ways for improving the overall performance in the context of an application.

Abstract

Humans are able to recognise a word before its acoustic realisation is complete. This in contrast to conventional automatic speech recognition (ASR) systems, which compute the likelihood of a number of hypothesised word sequences, and identify the words that were recognised on the basis of a trace back of the hypothesis with the highest eventual score, in order to maximise efficiency and performance. In the present paper, we present an ASR system, SpeM, based on principles known from the field of human word recognition that is able to model the human capability of ‘early recognition’ by computing word activation scores (based on negative log likelihood scores) during the speech recognition process. Experiments on 1463 polysyllabic words in 885 utterances showed that 64.0% (936) of these polysyllabic words were recognised correctly at the end of the utterance. For 81.1% of the 936 correctly recognised polysyllabic words the local word activation allowed us to identify the word before its last phone was available, and 64.1% of those words were already identified one phone after their lexical uniqueness point. We investigated two types of predictors for deciding whether a word is considered as recognised before the end of its acoustic realisation. The first type is related to the absolute and relative values of the word activation, which trade false acceptances for false rejections. The second type of predictor is related to the number of phones of the word that have already been processed and the number of phones that remain until the end of the word. The results showed that SpeM’s performance increases if the amount of acoustic evidence in support of a word increases and the risk of future mismatches decreases.

Abstract

The fields of human speech recognition (HSR) and automatic speech recognition (ASR) both investigate parts of the speech recognition process and have word recognition as their central issue. Although the research fields appear closely related, their aims and research methods are quite different. Despite these differences there is, however, lately a growing interest in possible cross-fertilisation. Researchers from both ASR and HSR are realising the potential benefit of looking at the research field on the other side of the ‘gap’. In this paper, we provide an overview of past and present efforts to link human and automatic speech recognition research and present an overview of the literature describing the performance difference between machines and human listeners. The focus of the paper is on the mutual benefits to be derived from establishing closer collaborations and knowledge interchange between ASR and HSR. The paper ends with an argument for more and closer collaborations between researchers of ASR and HSR to further improve research in both fields.

Abstract

The ultimate goal of our research is to develop a computational model of human speech recognition that is able to capture the effects of fine-grained acoustic variation on speech recognition behaviour. As part of this work we are investigating automatic feature classifiers that are able to create reliable and accurate transcriptions of the articulatory behaviour encoded in the acoustic speech signal. In the experiments reported here, we analysed the classification results from support vector machines (SVMs) and multilayer perceptrons (MLPs). MLPs have been widely and successfully used for the task of multi-value articulatory feature classification, while (to the best of our knowledge) SVMs have not. This paper compares the performance of the two classifiers and analyses the results in order to better understand the articulatory representations. It was found that the SVMs outperformed the MLPs for five out of the seven articulatory feature classes we investigated while using only 8.8–44.2% of the training material used for training the MLPs. The structure in the misclassifications of the SVMs and MLPs suggested that there might be a mismatch between the characteristics of the classification systems and the characteristics of the description of the AF values themselves. The analyses showed that some of the misclassified features are inherently confusable given the acoustic space. We concluded that in order to come to a feature set that can be used for a reliable and accurate automatic description of the speech signal; it could be beneficial to move away from quantised representations.

Abstract

This study examines how lexical frequency and planning problems can predict phonetic variability in the function word ‘the’ in conversational speech produced by non-native speakers of English. We examined 3180 tokens of ‘the’ drawn from English conversations between native speakers of Czech or Norwegian. Using regression models, we investigated the effect of following word frequency and disfluencies on three phonetic parameters: vowel duration, vowel quality, and consonant quality. Overall, the non-native speakers showed variation that is very similar to the variation displayed by native speakers of English. Like native speakers, Czech speakers showed an effect of frequency on vowel durations, which were shorter in more frequent word sequences. Both groups of speakers showed an effect of frequency on consonant quality: the substitution of another consonant for /ð/ occurred more often in the context of more frequent words. The speakers in this study also showed a native-like allophonic distinction in vowel quality, in which /ði/ occurs more often before vowels and /ðə/ before consonants. Vowel durations were longer in the presence of following disfluencies, again mirroring patterns in native speakers, and the consonant quality was more likely to be the target /ð/ before disfluencies, as opposed to a different consonant. The fact that non-native speakers show native-like sensitivity to lexical frequency and disfluencies suggests that these effects are consequences of a general, non-language-specific production mechanism governing language planning. On the other hand, the non-native speakers in this study did not show native-like patterns of vowel quality in the presence of disfluencies, suggesting that the pattern attested in native speakers of English may result from language-specific processes separate from the general production mechanisms

Abstract

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins.

Abstract

SummaryGenome-wide association studies have uncovered hundreds of loci associated with psychiatric disorders. Cross-disorder studies are among the prime ramifications of such research. Here, we discuss the methodology of the most widespread methods and their clinical utility with regard to diagnosis, prediction, disease aetiology and treatment in psychiatry.Declaration of interestNone.

Abstract

Exposure to traumatic stress increases the odds of developing a broad range of psychiatric conditions. Genetic studies targeting multiple stress-related quantitative phenotypes may shed light on mechanisms underlying vulnerability to psychopathology in the aftermath of stressful events. We applied a multivariate genome-wide association study (GWAS) to a unique military cohort (N = 583) in which we measured biochemical and behavioral phenotypes. The availability of pre- and post-deployment measurements allowed to capture changes in these phenotypes in response to stress. For genome-wide significant loci, we performed functional annotation, phenome-wide analysis and quasi-replication in PTSD case-control GWASs. We discovered one genetic variant reaching genome-wide significant association, surviving permutation and sensitivity analyses (rs10100651, p = 9.9 × 10−9). Functional annotation prioritized the genes INTS8 and TP53INP1. A phenome-wide scan revealed a significant association of these same genes with sleeping problems, hypertension and subjective well-being. Finally, a targeted lookup revealed nominally significant association of rs10100651 in a PTSD case-control GWAS in the UK Biobank (p = 0.02). We provide comprehensive evidence from multiple resources hinting at a role of the highlighted genetic variant in the human stress response, marking the power of multivariate genome-wide analysis of quantitative measures in stress research. Future genetic and functional studies can target this locus to further assess its effects on stress mediation and its possible role in psychopathology or resilience.

Abstract

The Flinder Sensitive Line (FSL) is a rat strain that displays distinct behavioral and neurochemical features of major depression. Chronic selective serotonin reuptake inhibitors (SSRIs) are able to reverse these symptoms in FSL rats. It is well known that several abnormalities in the serotonergic system have been found in FSL rats, including increased 5-HT brain tissue levels and reduced 5-HT synthesis. SSRIs are known to exert (part of) their effects by desensitization of the 5-HT1A receptor and FSL rats appear to have lower 5-HT1A receptor densities compared with Flinder Resistant Line (FRL) rats. We therefore studied the sensitivity of this receptor on the sexual behavior performance in both FRL and FSL rats. First, basal sexual performance was studied after saline treatment followed by treatment of two different doses of the 5-HT1A receptor agonist ±8-OH-DPAT. Finally we measured the effect of a 5-HT1A receptor antagonist to check for specificity of the 5-HT1A receptor activation. Our results show that FSL rats have higher ejaculation frequencies compared with FRL rats which do not fit with a more depressive-like phenotype. Moreover FRL rats are more sensitive to effects of ±8-OH-DPAT upon EL and IF than FSL rats. The blunted response of FSL rats to the effects of ±8-OH-DPAT may be due to lower densities of 5-HT1A receptors.

Abstract

To investigate the role of the syllable in Dutch speech production, five experiments were carried out to examine the effect of visually masked syllable primes on the naming latencies for written words and pictures. Targets had clear syllable boundaries and began with a CV syllable (e.g., ka.no) or a CVC syllable (e.g., kak.tus), or had ambiguous syllable boundaries and began with a CV[C] syllable (e.g., ka[pp]er). In the syllable match condition, bisyllabic Dutch nouns or verbs were preceded by primes that were identical to the target’s first syllable. In the syllable mismatch condition, the prime was either shorter or longer than the target’s first syllable. A neutral condition was also included. None of the experiments showed a syllable priming effect. Instead, all related primes facilitated the naming of the targets. It is concluded that the syllable does not play a role in the process of phonological encoding in Dutch. Because the amount of facilitation increased with increasing overlap between prime and target, the priming effect is accounted for by a segmental overlap hypothesis.

Abstract

This paper experimentally explores the optionality of Dutch scrambling structures with a definite object and an adverb. Most researchers argue that such structures are not freely interchangeable, but are subject to a strict discourse template. Existing analyses are based primarily on intuitions of the researchers, while experimental support is scarce. This paper reports on two experiments to gauge the existence of a strict discourse template. The discourse status of definite objects in scrambling clauses is first probed in a fill-in-the-blanks experiment and subsequently manipulated in a speeded judgment experiment. The results of these experiments indicate that scrambling is not as restricted as is commonly claimed. Although mismatches between surface order and pragmatic interpretation lead to a penalty in judgment rates and a rise in reaction times, they nonetheless occur in production and yield fully acceptable structures. Crucially, the penalties and delays emerge only in scrambling clauses with an adverb that is sensitive to focus placement. This paper argues that scrambling does not map onto discourse structure in the strict way proposed in most literature. Instead, a more complex syntax of deriving discourse relations is proposed which submits that the Dutch scrambling pattern results from two familiar processes which apply at the syntax-pragmatics interface: reconstruction and covert raising.

Abstract

This dataset, colloquially known as the Mother Of Unification Studies (MOUS) dataset, contains multimodal neuroimaging data that has been acquired from 204 healthy human subjects. The neuroimaging protocol consisted of magnetic resonance imaging (MRI) to derive information at high spatial resolution about brain anatomy and structural connections, and functional data during task, and at rest. In addition, magnetoencephalography (MEG) was used to obtain high temporal resolution electrophysiological measurements during task, and at rest. All subjects performed a language task, during which they processed linguistic utterances that either consisted of normal or scrambled sentences. Half of the subjects were reading the stimuli, the other half listened to the stimuli. The resting state measurements consisted of 5 minutes eyes-open for the MEG and 7 minutes eyes-closed for fMRI. The neuroimaging data, as well as the information about the experimental events are shared according to the Brain Imaging Data Structure (BIDS) format. This unprecedented neuroimaging language data collection allows for the investigation of various aspects of the neurobiological correlates of language.

Abstract

We report on an fMRI syntactic priming experiment in which we measure brain activity for participants who communicate with another participant outside the scanner. We investigated whether syntactic processing during overt language production and comprehension is influenced by having a (shared) goal to communicate. Although theory suggests this is true, the nature of this influence remains unclear. Two hypotheses are tested: i. syntactic priming effects (fMRI and RT) are stronger for participants in the communicative context than for participants doing the same experiment in a non-communicative context, and ii. syntactic priming magnitude (RT) is correlated with the syntactic priming magnitude of the speaker’s communicative partner. Results showed that across conditions, participants were faster to produce sentences with repeated syntax, relative to novel syntax. This behavioral result converged with the fMRI data: we found repetition suppression effects in the left insula extending into left inferior frontal gyrus (BA 47/45), left middle temporal gyrus (BA 21), left inferior parietal cortex (BA 40), left precentral gyrus (BA 6), bilateral precuneus (BA 7), bilateral supplementary motor cortex (BA 32/8) and right insula (BA 47). We did not find support for the first hypothesis: having a communicative intention does not increase the magnitude of syntactic priming effects (either in the brain or in behavior) per se. We did find support for the second hypothesis: if speaker A is strongly/weakly primed by speaker B, then speaker B is primed by speaker A to a similar extent. We conclude that syntactic processing is influenced by being in a communicative context, and that the nature of this influence is bi-directional: speakers are influenced by each other.

Abstract

Speakers are influenced by the linguistic context: hearing one syntactic alternative leads to an increased chance that the speaker will repeat this structure in the subsequent utterance (i.e., syntactic priming, or structural persistence). Top-down influences, such as whether a conversation partner (or, interlocutor) is present, may modulate the degree to which syntactic priming occurs. In the current study, we indeed show that the magnitude of syntactic alignment increases when speakers are interacting with an interlocutor as opposed to doing the experiment alone. The structural persistence effect for passive sentences is stronger in the presence of an interlocutor than when no interlocutor is present (i.e., when the participant is primed by a recording). We did not find evidence, however, that a speaker’s syntactic priming magnitude is influenced by the degree of their conversation partner’s priming magnitude. Together, these results support a mediated account of syntactic priming, in which syntactic choices are not only affected by preceding linguistic input, but also by top-down influences, such as the speakers’ communicative intent.

Abstract

The acquisition of language and speech is uniquely human, but how genetic changes might have adapted the nervous system to this capacity is not well understood. Two human-specific amino acid substitutions in the transcription factor forkhead box P2 (FOXP2) are outstanding mechanistic candidates, as they could have been positively selected during human evolution and as FOXP2 is the sole gene to date firmly linked to speech and language development. When these two substitutions are introduced into the endogenous Foxp2 gene of mice (Foxp2hum), cortico-basal ganglia circuits are specifically affected. Here we demonstrate marked effects of this humanization of Foxp2 on learning and striatal neuroplasticity. Foxp2hum/hum mice learn stimulus–response associations faster than their WT littermates in situations in which declarative (i.e., place-based) and procedural (i.e., response-based) forms of learning could compete during transitions toward proceduralization of action sequences. Striatal districts known to be differently related to these two modes of learning are affected differently in the Foxp2hum/hum mice, as judged by measures of dopamine levels, gene expression patterns, and synaptic plasticity, including an NMDA receptor-dependent form of long-term depression. These findings raise the possibility that the humanized Foxp2 phenotype reflects a different tuning of corticostriatal systems involved in declarative and procedural learning, a capacity potentially contributing to adapting the human brain for speech and language acquisition.

Abstract

Speakers can adapt their speech and co-speech gestures based on knowledge shared with an addressee (common ground-based recipient design). Here, we investigate whether these adaptations are modulated by the speaker’s age and cognitive abilities. Younger and older participants narrated six short comic stories to a same-aged addressee. Half of each story was known to both participants, the other half only to the speaker. The two age groups did not differ in terms of the number of words and narrative events mentioned per narration, or in terms of gesture frequency, gesture rate, or percentage of events expressed multimodally. However, only the younger participants reduced the amount of verbal and gestural information when narrating mutually known as opposed to novel story content. Age-related differences in cognitive abilities did not predict these differences in common ground-based recipient design. The older participants’ communicative behaviour may therefore also reflect differences in social or pragmatic goals.

Abstract

Background

Voluntary shifts of visuospatial attention are associated with a lateralization of parieto-occipital alpha power (7-13Hz), i.e. higher power in the hemisphere ipsilateral and lower power contralateral to the locus of attention. Recent noninvasive neuromodulation studies demonstrated that alpha power can be experimentally increased using transcranial alternating current stimulation (tACS).
Objective/Hypothesis

We hypothesized that tACS at alpha frequency over the left parietal cortex induces shifts of attention to the left hemifield. However, spatial attention shifts not only occur voluntarily (endogenous/ top-down), but also stimulus-driven (exogenous/ bottom-up). To study the task-specificity of the potential effects of tACS on attentional processes, we administered three conceptually different spatial attention tasks.
Methods

36 healthy volunteers were recruited from an academic environment. In two separate sessions, we applied either high-density tACS at 10Hz, or sham tACS, for 35–40 minutes to their left parietal cortex. We systematically compared performance on endogenous attention, exogenous attention, and stimulus detection tasks.
Results

In the endogenous attention task, a greater leftward bias in reaction times was induced during left parietal 10Hz tACS as compared to sham. There were no stimulation effects in either the exogenous attention or the stimulus detection task.
Conclusion

The study demonstrates that high-density tACS at 10Hz can be used to modulate visuospatial attention performance. The tACS effect is task-specific, indicating that not all forms of attention are equally susceptible to the stimulation.

Abstract

Exposure to trauma strongly increases the risk to develop stress-related psychopathology, such as post-traumatic stress disorder (PTSD) or major depressive disorder (MDD). In addition, liability to develop these moderately heritable disorders is partly determined by common genetic variance, which is starting to be uncovered by genome-wide association studies (GWASs). However, it is currently unknown to what extent genetic vulnerability and trauma interact. We investigated whether genetic risk based on summary statistics of large GWASs for PTSD and MDD predisposed individuals to report an increase in MDD and PTSD symptoms in a prospective military cohort (N = 516) at five time points after deployment to Afghanistan: one month, six months and one, two and five years. Linear regression was used to analyze the contribution of polygenic risk scores (PRSs, at multiple p-value thresholds) and their interaction with deployment-related trauma to the development of PTSD- and depression-related symptoms. We found no main effects of PRSs nor evidence for interactions with trauma on the development of PTSD or depressive symptoms at any of the time points in the five years after military deployment. Our results based on a unique long-term follow-up of a deployed military cohort suggest limited validity of current PTSD and MDD polygenic risk scores, albeit in the presence of minimal severe psychopathology in the target cohort. Even though the predictive value of PRSs will likely benefit from larger sample sizes in discovery and target datasets, progress will probably also depend on (endo)phenotype refinement that in turn will reduce etiological heterogeneity.

Abstract

Encoding the temporal properties of external signals that comprise multimodal events is a major factor guiding everyday experience. However, during the natural aging process, impairments to sensory processing can profoundly affect multimodal temporal perception. Various mechanisms can contribute to temporal perception, and thus it is imperative to understand how each can be affected by age. In the current study, using three different temporal order judgement tasks (unisensory, multisensory, and sensorimotor), we investigated the effects of age on two separate temporal processes: synchronization and integration of multiple signals. These two processes rely on different aspects of temporal information, either the temporal alignment of processed signals or the integration/segregation of signals arising from different modalities, respectively. Results showed that the ability to integrate/segregate multiple signals decreased with age regardless of the task, and that the magnitude of such impairment correlated across tasks, suggesting a widespread mechanism affected by age. In contrast, perceptual synchrony remained stable with age, revealing a distinct intact mechanism. Overall, results from this study suggest that aging has differential effects on temporal processing, and general impairments with aging may impact global temporal sensitivity while context-dependent processes remain unaffected.

Abstract

Speakers sometimes repeat syntactic structures across sentences, a phenomenon called syntactic priming. We investigated the influence of verb-bound syntactic preferences on syntactic priming effects in response choices and response latencies for German ditransitive sentences. In the response choices we found inverse preference effects: There were stronger syntactic priming effects for primes in the less preferred structure, given the syntactic preference of the prime verb. In the response latencies we found positive preference effects: There were stronger syntactic priming effects for primes in the more preferred structure, given the syntactic preference of the prime verb. These findings provide further support for the idea that syntactic processing is lexically guided.

Abstract

We have used the genome-wide marker genotypes from Genetic Analysis Workshop 15 Problem 2 to explore joint evidence for genetic linkage to rheumatoid arthritis across several samples. The data consisted of four high-density genome scans on samples selected for rheumatoid arthritis. We cleaned the data, removed intermarker linkage disequilibrium, and assembled the samples onto a common genetic map using genome sequence positions as a reference for map interpolation. The individual studies were combined first at the genotype level (mega-analysis) prior to a multipoint linkage analysis on the combined sample, and second using the genome scan meta-analysis method after linkage analysis of each sample. The two approaches were compared, and give strong support to the HLA locus on chromosome 6 as a susceptibility locus. Other regions of interest include loci on chromosomes 11, 2, and 12.

Abstract

Feed-forward deep convolutional neural networks (DCNNs) are, under specific conditions, matching and even surpassing human performance in object recognition in natural scenes. This performance suggests that the analysis of a loose collection of image features could support the recognition of natural object categories, without dedicated systems to solve specific visual subtasks. Research in humans however suggests that while feedforward activity may suffice for sparse scenes with isolated objects, additional visual operations ('routines') that aid the recognition process (e.g. segmentation or grouping) are needed for more complex scenes. Linking human visual processing to performance of DCNNs with increasing depth, we here explored if, how, and when object information is differentiated from the backgrounds they appear on. To this end, we controlled the information in both objects and backgrounds, as well as the relationship between them by adding noise, manipulating background congruence and systematically occluding parts of the image. Results indicate that with an increase in network depth, there is an increase in the distinction between object- and background information. For more shallow networks, results indicated a benefit of training on segmented objects. Overall, these results indicate that, de facto, scene segmentation can be performed by a network of sufficient depth. We conclude that the human brain could perform scene segmentation in the context of object identification without an explicit mechanism, by selecting or “binding” features that belong to the object and ignoring other features, in a manner similar to a very deep convolutional neural network.

Abstract

A fundamental component of interacting with our environment is gathering and interpretation of sensory information. When investigating how perceptual information influences decision-making, most researchers have relied on manipulated or unnatural information as perceptual input, resulting in findings that may not generalize to real-world scenes. Unlike simplified, artificial stimuli, real-world scenes contain low-level regularities that are informative about the structural complexity, which the brain could exploit. In this study, participants performed an animal detection task on low, medium or high complexity scenes as determined by two biologically plausible natural scene statistics, contrast energy (CE) or spatial coherence (SC). In experiment 1, stimuli were sampled such that CE and SC both influenced scene complexity. Diffusion modelling showed that the speed of information processing was affected by low-level scene complexity. Experiment 2a/b refined these observations by showing how isolated manipulation of SC resulted in weaker but comparable effects, with an additional change in response boundary, whereas manipulation of only CE had no effect. Overall, performance was best for scenes with intermediate complexity. Our systematic definition quantifies how natural scene complexity interacts with decision-making. We speculate that CE and SC serve as an indication to adjust perceptual decision-making based on the complexity of the input.

Abstract

Children perceive iconic gestures, along with speech they hear. Previous studies have shown
that children integrate information from both modalities. Yet it is not known whether children
can integrate both types of information simultaneously as soon as they are available as adults
do or processes them separately initially and integrate them later. Using electrophysiological
measures, we examined the online neurocognitive processing of gesture-speech integration in
6- to 7-year-old children. We focused on the N400 event-related potentials component which
is modulated by semantic integration load. Children watched video clips of matching or
mismatching gesture-speech combinations, which varied the semantic integration load. The
ERPs showed that the amplitude of the N400 was larger in the mismatching condition than in
the matching condition. This finding provides the first neural evidence that by the ages of 6
or 7, children integrate multimodal semantic information in an online fashion comparable to
that of adults.

Abstract

In his famous introduction to his monograph “Argonauts of the Western Pacific” Bronislaw
Malinowski (1922: 24f.) points out that a “collection of ethnographic statements, characteristic
narratives, typical utterances, items of folk-lore and magical formulae has to be given as a corpus
inscriptionum, as documents of native mentality”. This is one of the prerequisites to “grasp the
native's point of view, his relation to life, to realize his vision of his world”. Malinowski managed
to document a “Corpus Inscriptionum Agriculturae Quriviniensis” in his second volume of “Coral
Gardens and their Magic” (1935 Vol II: 79-342). But he himself did not manage to come up with a
holistic corpus inscriptionum for the Trobriand Islanders. One of the main aims I have been pursuing
in my research on the Trobriand Islanders' language, culture, and cognition has been to fill this
ethnolinguistic niche. In this essay, I report what I had to do to carry out this complex and ambitious
project, what forms and kinds of linguistic and cultural competence I had to acquire, and how I
planned my data collection during 16 long- and short-term field trips to the Trobriand Islands
between 1982 and 2012. The paper ends with a critical assessment of my Trobriand endeavor.

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

This paper is an attempt to show that given the available observations on the behaviour of negation and presuppositions there is no simpler explanation than to assume that natural language has two distinct negation operators, the minimal negation which preserves presuppositions and the radical negation which does not. The three-valued logic emerging from this distinction, and especially its model-theory, are discussed in detail. It is, however, stressed that the logic itself is only epiphenomenal on the structures and processes involved in the interpretation of sentences. Horn (1985) brings new observations to bear, related with metalinguistic uses of negation, and proposes a “pragmatic” ambiguity in negation to the effect that in descriptive (or “straight”) use negation is the classical bivalent operator, whereas in metalinguistic use it is non-truthfunctional but only pragmatic. Van der Sandt (to appear) accepts Horn's observations but proposes a different solution: he proposes an ambiguity in the argument clause of the negation operator (which, for him, too, is classical and bivalent), according to whether the negation takes only the strictly asserted proposition or covers also the presuppositions, the (scalar) implicatures and other implications (in particular of style and register) of the sentence expressing that proposition. These theories are discussed at some length. The three-valued analysis is defended on the basis of partly new observations, which do not seem to fit either Horn's or Van der Sandt's solution. It is then placed in the context of incremental discourse semantics, where both negations are seen to do the job of keeping increments out of the discourse domain, though each does so in its own specific way. The metalinguistic character of the radical negation is accounted for in terms of the incremental apparatus. The metalinguistic use of negation in denials of implicatures or implications of style and register is regarded as a particular form of minimal negation, where the negation denies not the proposition itself but the appropriateness of the use of an expression in it. This appropriateness negation is truth-functional and not pragmatic, but it applies to a particular, independently motivated, analysis of the argument clause. The ambiguity of negation in natural language is different from the ordinary type of ambiguity found in the lexicon. Normally, lexical ambiguities are idiosyncratic, highly contingent, and unpredictable from language to language. In the case of negation, however, the two meanings are closely related, both truth-conditionally and incrementally. Moreover, the mechanism of discourse incrementation automatically selects the right meaning. These properties are taken to provide a sufficient basis for discarding the, otherwise valid, objection that negation is unlikely to be ambiguous because no known language makes a lexical distinction between the two readings.

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 Open Access Movement promotes free and unfettered access to research publications and, increasingly, to the primary data which underly those publications. As the field of documentary linguistics seeks to record and preserve culturally and linguistically relevant materials, the question of how openly accessible these materials should be becomes increasingly important. This paper aims to guide researchers and other stakeholders in finding an appropriate balance between accessibility and confidentiality of data, addressing community questions and legal, institutional, and intellectual issues that pose challenges to accessible data.

Abstract

Autism spectrum disorder is increasingly associated with atypical perceptual and sensory symptoms. Here we explore the hypothesis
that aberrant sensory processing in autism spectrum disorder could be linked to atypical intra- (local) and interregional (global)
brain connectivity. To elucidate oscillatory dynamics and connectivity in the visual domain we used magnetoencephalography and
a simple visual grating paradigm with a group of 18 adolescent autistic participants and 18 typically developing control subjects.
Both groups showed similar increases in gamma (40–80 Hz) and decreases in alpha (8–13 Hz) frequency power in occipital cortex.
However, systematic group differences emerged when analysing intra- and interregional connectivity in detail. First, directed
connectivity was estimated using non-parametric Granger causality between visual areas V1 and V4. Feedforward V1-to-V4
connectivity, mediated by gamma oscillations, was equivalent between autism spectrum disorder and control groups, but importantly,
feedback V4-to-V1 connectivity, mediated by alpha (8–13 Hz) oscillations, was significantly reduced in the autism spectrum
disorder group. This reduction was positively correlated with autistic quotient scores, consistent with an atypical visual hierarchy
in autism, characterized by reduced top-down modulation of visual input via alpha-band oscillations. Second, at the local level in
V1, coupling of alpha-phase to gamma amplitude (alpha-gamma phase amplitude coupling) was reduced in the autism spectrum
disorder group. This implies dysregulated local visual processing, with gamma oscillations decoupled from patterns of wider alphaband
phase synchrony (i.e. reduced phase amplitude coupling), possibly due to an excitation-inhibition imbalance. More generally,
these results are in agreement with predictive coding accounts of neurotypical perception and indicate that visual processes in
autism are less modulated by contextual feedback information.

Abstract

Background Cognitive dysfunction is one of the most prominent characteristics of psychiatric disorders. At present, the neural correlates of cognitive dysfunction across psychiatric disorders are poorly understood. The aim of this study was to investigate functional connectivity and structural perturbations across psychiatric diagnoses in three neurocognitive networks of interest, including the default-mode (DMN), the frontoparietal (FPN) and the salience network (SN). Methods We performed meta-analyses of resting-state functional MRI (R-fMRI) whole-brain seed-based functional connectivity in 8,298 patients (involving 8 disorders) and 8,165 healthy controls and a voxel-based morphometry analysis of structural MRI data in 14,027 patients (involving 8 disorders) and healthy 14,504 controls. To aid the interpretation of the results, we examined neurocognitive function in 776 healthy participants from the Human Connectome Project. Results We found that the three neurocognitive networks of interest were characterized by shared alterations of functional connectivity architecture across psychiatric disorders. More specifically, hypoconnectivity was expressed between the DMN and ventral SN and between the SN and FPN, whereas hyperconnectivity was evident between the DMN and FPN and between the DMN and dorsal SN. This pattern of network alterations was associated with gray matter reductions in patients, and was localized in regions that subserve general cognitive performance. Conclusions This study is the first to provide meta-analytic evidence of common alterations of functional connectivity within and between neurocognitive networks. The findings suggest a shared mechanism of network interactions that may associate with the generalized cognitive deficits observed in psychiatric disorders.

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

Difficulties in saying the right word at the right time arise at least in part because multiple response candidates are simultaneously activated in the speaker’s mind. The word selection process has been simulated using the picture–word interference task, in which participants name pictures while ignoring a superimposed written distractor word. However, words are usually produced in context, in the service of achieving a communicative goal. Two experiments addressed the questions whether context influences word production, and if so, how. We embedded the picture–word interference task in a dialogue-like setting, in which participants heard a question and named a picture as an answer to the question while ignoring a superimposed distractor word. The conversational context was either constraining or nonconstraining towards the answer. Manipulating the relationship between the picture name and the distractor, we focused on two core processes of word production: retrieval of semantic representations (Experiment 1) and phonological encoding (Experiment 2). The results of both experiments showed that naming reaction times (RTs) were shorter when preceded by constraining contexts as compared with nonconstraining contexts. Critically, constraining contexts decreased the effect of semantically related distractors but not the effect of phonologically related distractors. This suggests that conversational contexts can help speakers with aspects of the meaning of to-be-produced words, but phonological encoding processes still need to be performed as usual.

Abstract

There is mounting evidence that the ease of producing and understanding language depends not only on the frequencies of individual words but also on the frequencies of word combinations. However, in two picture description experiments, Janssen and Barber (2012) found that French and Spanish speakers' speech onset latencies for short phrases depended exclusively on the frequencies of the phrases but not on the frequencies of the individual words. They suggested that speakers retrieved phrase-sized units from the mental lexicon. In the present study, we examined whether the time required to plan complex noun phrases in Dutch would likewise depend only on phrase frequencies. Participants described line drawings in phrases such as rode schoen [red shoe] (Experiments 1 and 2) or de rode schoen [the red shoe] (Experiment 3). Replicating Janssen and Barber's findings, utterance onset latencies depended on the frequencies of the phrases but, deviating from their findings, also depended on the frequencies of the adjectives in adjective-noun phrases and the frequencies of the nouns in determiner-adjective-noun phrases. We conclude that individual word frequencies and phrase frequencies both affect the time needed to produce noun phrases and discuss how these findings may be captured in models of the mental lexicon and of phrase production

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

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

Interactions between top-down and bottom-up information streams are integral to brain function but challenging to measure noninvasively. Laminar resolution, functional MRI (lfMRI) is sensitive to depth-dependent properties of the blood oxygen level-dependent (BOLD) response, which can be potentially related to top-down and bottom-up signal contributions. In this work, we used lfMRI to dissociate the top-down and bottom-up signal contributions to the left occipitotemporal sulcus (LOTS) during word reading. We further demonstrate that laminar resolution measurements could be used to identify condition-specific distributed networks on the basis of whole-brain connectivity patterns specific to the depth-dependent BOLD signal. The networks corresponded to top-down and bottom-up signal pathways targeting the LOTS during word reading. We show that reading increased the top-down BOLD signal observed in the deep layers of the LOTS and that this signal uniquely related to the BOLD response in other language-critical regions. These results demonstrate that lfMRI can reveal important patterns of activation that are obscured at standard resolution. In addition to differences in activation strength as a function of depth, we also show meaningful differences in the interaction between signals originating from different depths both within a region and with the rest of the brain. We thus show that lfMRI allows the noninvasive measurement of directed interaction between brain regions and is capable of resolving different connectivity patterns at submillimeter resolution, something previously considered to be exclusively in the domain of invasive recordings.

Abstract

It has been proposed that abnormalities in probabilistic prediction and dynamic belief updating explain the multiple features of schizophrenia. Here, we used electroencephalography (EEG) to ask whether these abnormalities can account for the well-established reduction in semantic priming observed in schizophrenia under nonautomatic conditions. We isolated predictive contributions to the neural semantic priming effect by manipulating the prime’s predictive validity and minimizing retroactive semantic matching mechanisms. We additionally examined the link between prediction and learning using a Bayesian model that probed dynamic belief updating as participants adapted to the increase in predictive validity. We found that patients were less likely than healthy controls to use the prime to predictively facilitate semantic processing on the target, resulting in a reduced N400 effect. Moreover, the trial-by-trial output of our Bayesian computational model explained between-group differences in trial-by-trial N400 amplitudes as participants transitioned from conditions of lower to higher predictive validity. These findings suggest that, compared with healthy controls, people with schizophrenia are less able to mobilize predictive mechanisms to facilitate processing at the earliest stages of accessing the meanings of incoming words. This deficit may be linked to a failure to adapt to changes in the broader environment. This reciprocal relationship between impairments in probabilistic prediction and Bayesian learning/adaptation may drive a vicious cycle that maintains cognitive disturbances in schizophrenia.

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

Purpose

This study investigated whether maximum speech performance, more specifically, the ability to rapidly alternate between similar syllables during speech production, is associated with executive control abilities in a nonclinical young adult population.
Method

Seventy-eight young adult participants completed two speech tasks, both operationalized as maximum performance tasks, to index their articulatory control: a diadochokinetic (DDK) task with nonword and real-word syllable sequences and a tongue-twister task. Additionally, participants completed three cognitive tasks, each covering one element of executive control (a Flanker interference task to index inhibitory control, a letter–number switching task to index cognitive switching, and an operation span task to index updating of working memory). Linear mixed-effects models were fitted to investigate how well maximum speech performance measures can be predicted by elements of executive control.
Results

Participants' cognitive switching ability was associated with their accuracy in both the DDK and tongue-twister speech tasks. Additionally, nonword DDK accuracy was more strongly associated with executive control than real-word DDK accuracy (which has to be interpreted with caution). None of the executive control abilities related to the maximum rates at which participants performed the two speech tasks.
Conclusion

These results underscore the association between maximum speech performance and executive control (cognitive switching in particular).

Abstract

We have carried out meta-analyses of genome-wide association studies (GWAS) (n = 23 784) of the first two principal components (PCs) that group together cortical regions with shared variance in their surface area. PC1 (global) captured variations of most regions, whereas PC2 (visual) was specific to the primary and secondary visual cortices. We identified a total of 18 (PC1) and 17 (PC2) independent loci, which were replicated in another 25 746 individuals. The loci of the global PC1 included those associated previously with intracranial volume and/or general cognitive function, such as MAPT and IGF2BP1. The loci of the visual PC2 included DAAM1, a key player in the planar-cell-polarity pathway. We then tested associations with occupational aptitudes and, as predicted, found that the global PC1 was associated with General Learning Ability, and the visual PC2 was associated with the Form Perception aptitude. These results suggest that interindividual variations in global and regional development of the human cerebral cortex (and its molecular architecture) cascade—albeit in a very limited manner—to behaviors as complex as the choice of one’s occupation.

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

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

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

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

In everyday conversation, interlocutors often plan their utterances while listening to their conversational partners, thereby achieving short gaps between their turns. Important issues for current psycholinguistics are how interlocutors distribute their attention between listening and speech planning and how speech planning is timed relative to listening. Laboratory studies addressing these issues have used a variety of paradigms, some of which have involved using recorded speech to which participants responded, whereas others have involved interactions with confederates. This study investigated how this variation in the speech input affected the participants’ timing of speech planning. In Experiment 1, participants responded to utterances produced by a confederate, who sat next to them and looked at the same screen. In Experiment 2, they responded to recorded utterances of the same confederate. Analyses of the participants’ speech, their eye movements, and their performance in a concurrent tapping task showed that, compared with recorded speech, the presence of the confederate increased the processing load for the participants, but did not alter their global sentence planning strategy. These results have implications for the design of psycholinguistic experiments and theories of listening and speaking in dyadic settings.

Abstract

The acoustic dimensions that distinguish speech sounds (like the vowel differences in “boot” and “boat”) also differentiate speakers’ voices. Therefore, listeners must normalize across speakers without losing linguistic information. Past behavioral work suggests an important role for auditory contrast enhancement in normalization: preceding context affects listeners’ perception of subsequent speech sounds. Here, using intracranial electrocorticography in humans, we investigate whether and how such context effects arise in auditory cortex. Participants identified speech sounds that were preceded by phrases from two different speakers whose voices differed along the same acoustic dimension as target words (the lowest resonance of the vocal tract). In every participant, target vowels evoke a speaker-dependent neural response that is consistent with the listener’s perception, and which follows from a contrast enhancement model. Auditory cortex processing thus displays a critical feature of normalization, allowing listeners to extract meaningful content from the voices of diverse speakers.

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

A fundamental assumption about language is that, regardless of language modality, it faces the linearization problem, i.e., an event that occurs simultaneously in the world has to be split in language to be organized on a temporal scale. However, the visual modality of signed languages allows its users not only to express meaning in a linear manner but also to use iconicity and multiple articulators together to encode information simultaneously. Accordingly, in cases when it is necessary to encode informatively rich events, signers can take advantage of simultaneous encoding in order to represent information about different referents and their actions simultaneously. This in turn would lead to more iconic and direct representation. Up to now, there has been no experimental study focusing on simultaneous encoding of information in signed languages and its possible advantage for efficient communication. In the present study, we assessed how many information units can be encoded simultaneously in Italian Sign Language (LIS) and whether the amount of simultaneously encoded information varies based on the amount of information that is required to be expressed. Twenty-three deaf adults participated in a director-matcher game in which they described 30 images of events that varied in amount of information they contained. Results revealed that as the information that had to be encoded increased, signers also increased use of multiple articulators to encode different information (i.e., kinematic simultaneity) and density of simultaneously encoded information in their production. Present findings show how the fundamental properties of signed languages, i.e., iconicity and simultaneity, are used for the purpose of efficient information encoding in Italian Sign Language (LIS).

Abstract

It is widely accepted that specific memory processes, such as serial-order memory, are involved in written language development and predictive of reading and spelling abilities. The reverse question, namely whether orthographic abilities also affect serial-order memory, has hardly been investigated. In the current study, we compared 20 illiterate people with a group of 20 literate matched controls on a verbal and a visuospatial version of the Hebb paradigm, measuring both short- and long-term serial-order memory abilities. We observed better short-term serial-recall performance for the literate compared with the illiterate people. This effect was stronger in the verbal than in the visuospatial modality, suggesting that the improved capacity of the literate group is a consequence of learning orthographic skills. The long-term consolidation of ordered information was comparable across groups, for both stimulus modalities. The implications of these findings for current views regarding the bi-directional interactions between memory and written language development are discussed.

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

Blindsight refers to the observation of residual visual abilities in the hemianopic field of patients without a functional V1. Given the within- and between-subject variability in the preserved abilities and the phenomenal experience of blindsight patients, the fine-grained description of the phenomenon is still debated. Here we tested a patient with established “perceptual” and “attentional” blindsight (c.f. Danckert and Rossetti, 2005). Using a pointing paradigm patient MS, who suffers from a complete left homonymous hemianopia, showed clear above chance manual localisation of ‘unseen’ targets. In addition, target presentations in his blind field led MS, on occasion, to spontaneous responses towards his sighted field. Structural and functional magnetic resonance imaging was conducted to evaluate the magnitude of V1 damage. Results revealed the presence of a calcarine sulcus in both hemispheres, yet his right V1 is reduced, structurally disconnected and shows no fMRI response to visual stimuli. Thus, visual stimulation of his blind field can lead to “action blindsight” and spontaneous antipointing, in absence of a functional right V1. With respect to the antipointing, we suggest that MS may have registered the stimulation and subsequently presumes it must have been in his intact half field.

Abstract

POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 19 individuals with heterozygous POU3F3 disruptions, most of which are de novo variants. All individuals had developmental delays and/or intellectual disability and impairments in speech and language skills. Thirteen individuals had characteristic low-set, prominent, and/or cupped ears. Brain abnormalities were observed in seven of eleven MRI reports. POU3F3 is an intronless gene, insensitive to nonsense-mediated decay, and 13 individuals carried protein-truncating variants. All truncating variants that we tested in cellular models led to aberrant subcellular localization of the encoded protein. Luciferase assays demonstrated negative effects of these alleles on transcriptional activation of a reporter with a FOXP2-derived binding motif. In addition to the loss-of-function variants, five individuals had missense variants that clustered at specific positions within the functional domains, and one small in-frame deletion was identified. Two missense variants showed reduced transactivation capacity in our assays, whereas one variant displayed gain-of-function effects, suggesting a distinct pathophysiological mechanism. In bioluminescence resonance energy transfer (BRET) interaction assays, all the truncated POU3F3 versions that we tested had significantly impaired dimerization capacities, whereas all missense variants showed unaffected dimerization with wild-type POU3F3. Taken together, our identification and functional cell-based analyses of pathogenic variants in POU3F3, coupled with a clinical characterization, implicate disruptions of this gene in a characteristic neurodevelopmental disorder.

Abstract

Previous studies have shown that segmentation skills are language-specific, making it difficult to segment continuous speech in an unfamiliar language into its component words. Here we present the first study capturing the delay in segmentation and recognition in the foreign listener using ERPs. We compared the ability of Dutch adults and of English adults without knowledge of Dutch (‘foreign listeners’) to segment familiarized words from continuous Dutch speech. We used the known effect of repetition on the event-related potential (ERP) as an index of recognition of words in continuous speech. Our results show that word repetitions in isolation are recognized with equivalent facility by native and foreign listeners, but word repetitions in continuous speech are not. First, words familiarized in isolation are recognized faster by native than by foreign listeners when they are repeated in continuous speech. Second, when words that have previously been heard only in a continuous-speech context re-occur in continuous speech, the repetition is detected by native listeners, but is not detected by foreign listeners. A preceding speech context facilitates word recognition for native listeners, but delays or even inhibits word recognition for foreign listeners. We propose that the apparent difference in segmentation rate between native and foreign listeners is grounded in the difference in language-specific skills available to the listeners.

Abstract

Children’s songs are omnipresent and highly attractive stimuli in infants’ input. Previous work suggests that infants process linguistic–phonetic information from simplified sung melodies. The present study investigated whether infants learn words from ecologically valid children’s songs. Testing 40 Dutch-learning 10-month-olds in a familiarization-then-test electroencephalography (EEG) paradigm, this study asked whether infants can segment repeated target words embedded in songs during familiarization and subsequently recognize those words in continuous speech in the test phase. To replicate previous speech work and compare segmentation across modalities, infants participated in both song and speech sessions. Results showed a positive event-related potential (ERP) familiarity effect to the final compared to the first target occurrences during both song and speech familiarization. No evidence was found for word recognition in the test phase following either song or speech. Comparisons across the stimuli of the present and a comparable previous study suggested that acoustic prominence and speech rate may have contributed to the polarity of the ERP familiarity effect and its absence in the test phase. Overall, the present study provides evidence that 10-month-old infants can segment words embedded in songs, and it raises questions about the acoustic and other factors that enable or hinder infant word segmentation from songs and speech.

Abstract

Bergmuller et al. (2007) make an important contribution to studies of cooperative breeding and provide a theoretical basis for linking the evolution of cooperative breeding with cooperative behavior.We have long been involved in empirical research on the only family of nonhuman primates to exhibit cooperative breeding, the Callitrichidae, which includes marmosets and tamarins, with studies in both field and captive contexts. In this paper we expand on three themes from Bergm¨uller et al. (2007) with empirical data. First we provide data in support of the importance of helpers and the specific benefits that helpers can gain in terms of fitness. Second, we suggest that mechanisms of rewarding helpers are more common and more effective in maintaining cooperative breeding than punishments. Third, we present a summary of our own research on cooperative behavior in cotton-top tamarins (Saguinus oedipus) where we find greater success in cooperative problem solving than has been reported for non-cooperatively breeding species.