Publications

Abstract

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes

Abstract

People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan

Abstract

Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.

Abstract

Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.

Abstract

The article compares the integration of topic-related additive words at different stages of untutored L2 acquisition. Data stem from an ‘‘additive-elicitation task’’ that was designed in order to capture topic-related additive words in a context that is at the same time controlled for the underlying information structure and nondeviant from other kinds of narrative discourse. We relate the distinction between stressed and nonstressed forms of the German scope particles and adverbials auch ‘also’, noch ‘another’, wieder ‘again’, and immer noch ‘still’ to a uniform, information-structure-based principle: the stressed variants have scope over the topic information of the relevant utterances. It is then the common function of these additive words to express the additive link between the topic of the present utterance and some previous topic for which the same state of affairs is claimed to hold. This phenomenon has often been referred to as ‘‘contrastive topic,’’ but contrary to what this term suggests, these topic elements are by no means deviant from the default in coherent discourse. In the underlying information structure, the validity of some given state of affairs for the present topic must be under discussion. Topic-related additive words then express that the state of affairs indeed applies to this topic, their function therefore coming close to the function of assertion marking. While this functional correspondence goes along with the formal organization of the basic stages of untutored second-language acquisition, its expression brings linguistic constraints into conflict when the acquisition of finiteness pushes learners to reorganize their utterances according to target-language syntax.

Abstract

Als je wereldwijd gesprekken beluistert, merk je dat de menselijke dialoog universele regels volgt. Die sturen en verrijken onze sociale interactie.

Abstract

We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.

Abstract

In conversation, people have to deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them

Abstract

Ideophones are found in many of the world’s languages. Though they are a major word class on a par with nouns and verbs, their origins are ill-understood, and the question of ideophone creation has been a source of controversy. This paper studies ideophone creation in naturally occurring speech. New, unconventionalised ideophones are identified using native speaker judgements, and are studied in context to understand the rules and regularities underlying their production and interpretation. People produce and interpret new ideophones with the help of the semiotic infrastructure that underlies the use of existing ideophones: foregrounding frames certain stretches of speech as depictive enactments of sensory imagery, and various types of iconicity link forms and meanings. As with any creative use of linguistic resources, context and common ground also play an important role in supporting rapid ‘good enough’ interpretations of new material. The making of new ideophones is a special case of a more general phenomenon of creative depiction: the art of presenting verbal material in such a way that the interlocutor recognises and interprets it as a depiction.

Abstract

Recent developments in the science of language signal the emergence of a new paradigm for language study: a social approach to the fundamental questions of what language is like, how much languages really have in common, and why only our species has it. The key to these developments is a new appreciation of the need to study everyday spoken language, with all its complications and ‘imperfections’, in a systematic way. The work reviewed in this article —on turn-taking, timing, and other-initiated repair in languages around the world— has important implications for our understanding of human sociality and sheds new light on the social shape of language. For the first time in the history of linguistics, we are no longer tied to what can be written down or thought up. Rather, we look at language as a biologist would: as it occurs in nature.

Abstract

Ideophones (also known as expressives or mimetics, and including onomatopoeia) have been systematically studied in linguistics since the 1850s, when they were first described as a lexical class of vivid sensory words in West-African languages. This paper surveys the research history of ideophones, from its roots in African linguistics to its fruits in general linguistics and typology around the globe. It shows that despite a recurrent narrative of marginalisation, work on ideophones has made an impact in many areas of linguistics, from theories of phonological features to typologies of manner and motion, and from sound symbolism to sensory language. Due to their hybrid nature as gradient vocal gestures that grow roots in discrete linguistic systems, ideophones provide opportunities to reframe typological questions, reconsider the role of language ideology in linguistic scholarship, and rethink the margins of language. With ideophones increasingly being brought into the fold of the language sciences, this review synthesises past theoretical insights and empirical findings in order to enable future work to build on them.

Abstract

Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

Abstract

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Abstract

People often talk about musical pitch using spatial metaphors. In English, for instance, pitches can be “high” or “low” (i.e., height-pitch association), whereas in other languages, pitches are described as “thin” or “thick” (i.e., thickness-pitch association). According to results from psychophysical studies, metaphors in language can shape people’s nonlinguistic space-pitch representations. But does language establish mappings between space and pitch in the first place, or does it only modify preexisting associations? To find out, we tested 4-month-old Dutch infants’ sensitivity to height-pitch and thickness-pitch mappings using a preferential-looking paradigm. The infants looked significantly longer at cross-modally congruent stimuli for both space-pitch mappings, which indicates that infants are sensitive to these associations before language acquisition. The early presence of space-pitch mappings means that these associations do not originate from language. Instead, language builds on preexisting mappings, changing them gradually via competitive associative learning. Space-pitch mappings that are language-specific in adults develop from mappings that may be universal in infants.

Abstract

How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require structured representations of stimulus properties and the relations between them. An account of how we might acquire such representations has central importance for theories of human cognition. We describe how a system can learn structured relational representations from initially unstructured inputs using comparison, sensitivity to time, and a modified Hebbian learning algorithm. We summarize how the model DORA (Discovery of Relations by Analogy) instantiates this approach, which we call predicate learning, as well as how the model captures several phenomena from cognitive development, relational reasoning, and language processing in the human brain. Predicate learning offers a link between models based on formal languages and models which learn from experience and provides an existence proof for how structured representations might be learned in the first place.

Abstract

A commentary on
Transcranial Magnetic Stimulation over Left Inferior Frontal and Posterior Temporal Cortex Disrupts Gesture-Speech Integration

by Zhao, W., Riggs, K., Schindler, I., and Holle, H. (2018). J. Neurosci. 10, 1748–1717. doi: 10.1523/JNEUROSCI.1748-17.2017

Abstract

Previous work revealed that visual semantic information conveyed by gestures can enhance degraded speech comprehension, but the mechanisms underlying these integration processes under adverse listening conditions remain poorly understood. We used MEG to investigate how oscillatory dynamics support speech–gesture integration when integration load is manipulated by auditory (e.g., speech degradation) and visual semantic (e.g., gesture congruency) factors. Participants were presented with videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching (mixing gesture + “mixing”) or mismatching (drinking gesture + “walking”) gesture. In clear speech, alpha/beta power was more suppressed in the left inferior frontal gyrus and motor and visual cortices when integration load increased in response to mismatching versus matching gestures. In degraded speech, beta power was less suppressed over posterior STS and medial temporal lobe for mismatching compared with matching gestures, showing that integration load was lowest when speech was degraded and mismatching gestures could not be integrated and disambiguate the degraded signal. Our results thus provide novel insights on how low-frequency oscillatory modulations in different parts of the cortex support the semantic audiovisual integration of gestures in clear and degraded speech: When speech is clear, the left inferior frontal gyrus and motor and visual cortices engage because higher-level semantic information increases semantic integration load. When speech is degraded, posterior STS/middle temporal gyrus and medial temporal lobe are less engaged because integration load is lowest when visual semantic information does not aid lexical retrieval and speech and gestures cannot be integrated.

Abstract

Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.

Abstract

During face-to-face communication, listeners integrate speech with gestures. The semantic information conveyed by iconic gestures (e.g., a drinking gesture) can aid speech comprehension in adverse listening conditions. In this magnetoencephalography (MEG) study, we investigated the spatiotemporal neural oscillatory activity associated with gestural enhancement of degraded speech comprehension. Participants watched videos of an actress uttering clear or degraded speech, accompanied by a gesture or not and completed a cued-recall task after watching every video. When gestures semantically disambiguated degraded speech comprehension, an alpha and beta power suppression and a gamma power increase revealed engagement and active processing in the hand-area of the motor cortex, the extended language network (LIFG/pSTS/STG/MTG), medial temporal lobe, and occipital regions. These observed low- and high-frequency oscillatory modulations in these areas support general unification, integration and lexical access processes during online language comprehension, and simulation of and increased visual attention to manual gestures over time. All individual oscillatory power modulations associated with gestural enhancement of degraded speech comprehension predicted a listener's correct disambiguation of the degraded verb after watching the videos. Our results thus go beyond the previously proposed role of oscillatory dynamics in unimodal degraded speech comprehension and provide first evidence for the role of low- and high-frequency oscillations in predicting the integration of auditory and visual information at a semantic level.

Abstract

Native listeners neurally integrate iconic gestures with speech, which can enhance degraded speech comprehension. However, it is unknown how non-native listeners neurally integrate speech and gestures, as they might process visual semantic context differently than natives. We recorded EEG while native and highly-proficient non-native listeners watched videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching ('to drive'+driving gesture) or mismatching gesture ('to drink'+mixing gesture). Degraded speech elicited an enhanced N400 amplitude compared to clear speech in both groups, revealing an increase in neural resources needed to resolve the spoken input. A larger N400 effect was found in clear speech for non-natives compared to natives, but in degraded speech only for natives. Non-native listeners might thus process gesture more strongly than natives when speech is clear, but need more auditory cues to facilitate access to gestural semantic information when speech is degraded.

Abstract

The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.

Abstract

There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.

Abstract

Since the late 1990s, the technical group at the Max-Planck-Institute for Psycholinguistics has worked on solutions for important challenges in building sustainable data archives, in particular, how to guarantee long-time-availability of digital research data for future research. The support for the well-known DOBES (Documentation of Endangered Languages) programme has greatly inspired and advanced this work, and lead to the ongoing development of a whole suite of tools for annotating, cataloguing and archiving multi-media data. At the core of the LAT (Language Archiving Technology) tools is the IMDI metadata schema, now being integrated into a larger network of digital resources in the European CLARIN project. The multi-media annotator ELAN (with its web-based cousin ANNEX) is now well known not only among documentary linguists. We aim at presenting an overview of the solutions, both achieved and in development, for creating and exploiting sustainable digital data, in particular in the area of documenting languages and cultures, and their interfaces with related other developments

Abstract

Numerous studies in psychology, cognitive neuroscience and psycholinguistics have used pictures of objects as stimulus materials. Currently, authors engaged in cross-linguistic work or wishing to run parallel studies at multiple sites where different languages are spoken must rely on rather small sets of black-and-white or colored line drawings. These sets are increasingly experienced as being too limited. Therefore, we constructed a new set of 750 colored pictures of concrete concepts. This set, MultiPic, constitutes a new valuable tool for cognitive scientists investigating language, visual perception, memory and/or attention in monolingual or multilingual populations. Importantly, the MultiPic databank has been normed in six different European languages (British English, Spanish, French, Dutch, Italian and German). All stimuli and norms are freely available at http://www.bcbl.eu/databases/multipic

Abstract

This paper examines the Papuan languages of Island Melanesia, with a view to considering their typological similarities and differences. The East Papuan languages are thought to be the descendants of the languages spoken by the original inhabitants of Island Melanesia, who arrived in the area up to 50,000 years ago. The Oceanic Austronesian languages are thought to have come into the area with the Lapita peoples 3,500 years ago. With this historical backdrop in view, our paper seeks to investigate the linguistic relationships between the scattered Papuan languages of Island Melanesia. To do this, we survey various structural features, including syntactic patterns such as constituent order in clauses and noun phrases and other features of clause structure, paradigmatic structures of pronouns, and the structure of verbal morphology. In particular, we seek to discern similarities between the languages that might call for closer investigation, with a view to establishing genetic relatedness between some or all of the languages. In addition, in examining structural relationships between languages, we aim to discover whether it is possible to distinguish between original Papuan elements and diffused Austronesian elements of these languages. As this is a vast task, our paper aims merely to lay the groundwork for investigation into these and related questions.

Abstract

Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.

Abstract

The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.

Abstract

While the importance of mental simulation during literary reading has long been recognized, we know little about the factors that determine when, what, and how much readers mentally simulate. Here we investigate the influence of a specific text characteristic, namely verb tense (present vs. past), on mental simulation during literary reading. Verbs usually denote the actions and events that take place in narratives and hence it is hypothesized that verb tense will influence the amount of mental simulation elicited in readers. Although the present tense is traditionally considered to be more “vivid”, this study is one of the first to experimentally assess this claim. We recorded eye-movements while subjects read stories in the past or present tense and collected data regarding self-reported levels of mental simulation, transportation and appreciation. We found no influence of tense on any of the offline measures. The eye-tracking data showed a slightly more complex pattern. Although we did not find a main effect of sensorimotor simulation content on reading times, we were able to link the degree to which subjects slowed down when reading simulation eliciting content to offline measures of attention and transportation, but this effect did not interact with the tense of the story. Unexpectedly, we found a main effect of tense on reading times per word, with past tense stories eliciting longer first fixation durations and gaze durations. However, we were unable to link this effect to any of the offline measures. In sum, this study suggests that tense does not play a substantial role in the process of mental simulation elicited by literary stories.

Abstract

Predictive language processing is often studied by measuring eye movements as participants look at objects on a computer screen while they listen to spoken sentences. The use of this variant of the visual world paradigm has shown that information encountered by a listener at a spoken verb can give rise to anticipatory eye movements to a target object, which is taken to indicate that people predict upcoming words. The ecological validity of such findings remains questionable, however, because these computer experiments used two-dimensional (2D) stimuli that are mere abstractions of real world objects. Here we present a visual world paradigm study in a three-dimensional (3D) immersive virtual reality environment. Despite significant changes in the stimulus material and the different mode of stimulus presentation, language-mediated anticipatory eye movements were observed. These findings thus indicate prediction of upcoming words in language comprehension in a more naturalistic setting where natural depth cues are preserved. Moreover, the results confirm the feasibility of using eye-tracking in rich and multimodal 3D virtual environments.

Abstract

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Abstract

Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.

Abstract

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

Abstract

Investigation of the emotions entails reference to words and expressions conventionally used for the description of emotion experience. Important methodological issues arise for emotion researchers, and the issues are of similarly central concern in linguistic semantics more generally. I argue that superficial and/or inconsistent description of linguistic meaning can have seriously misleading results. This paper is firstly a critique of standards in emotion research for its tendency to underrate and ill-understand linguistic semantics. It is secondly a critique of standards in some approaches to linguistic semantics itself. Two major problems occur. The first is failure to distinguish between conceptually distinct meanings of single words, neglecting the well-established fact that a single phonological string can signify more than one conceptual category (i.e., that words can be polysemous). The second error involves failure to distinguish between two kinds of secondary uses of words: (1) those which are truly active “online” extensions, and (2) those which are conventionalised secondary meanings and not active (qua “extensions”) at all. These semantic considerations are crucial to conclusions one may draw about cognition and conceptualisation based on linguistic evidence.

Abstract

This article argues that it is not possible to establish distinctions between 'Lao', 'Thai', and 'Isan' as seperate languages or dialects by appealing to objective criteria. 'Lao', 'Thai', and 'Isan' are conceived linguistics varieties, and the ground-level reality reveals a great deal of variation, much of it not coinciding with the geographical boundaries of the 'Laos', 'Isan', and 'non-Isan Thailand' areas. Those who promote 'Lao', 'Thai', and/or 'Isan' as distinct linguistic varieties have subjective (e.g. political and/or sentimental) reasons for doing so. Objective linguistic criteria are not sufficient

Abstract

Anthropologists and linguists have long been aware that the body is explicitly referred to in conventional description of emotion in languages around the world. There is abundant linguistic data showing expression of emotions in terms of their imagined ‘locus’ in the physical body. The most important methodological issue in the study of emotions is language, for the ways people talk give us access to ‘folk descriptions’ of the emotions. ‘Technical terminology’, whether based on English or otherwise, is not excluded from this ‘folk’ status. It may appear to be safely ‘scientific’ and thus culturally neutral, but in fact it is not: technical English is a variety of English and reflects, to some extent, culture-specific ways of thinking (and categorising) associated with the English language. People — as researchers studying other people, or as people in real-life social association — cannot directly access the emotional experience of others, and language is the usual mode of ‘packaging’ one’s experience so it may be accessible to others. Careful description of linguistic data from as broad as possible a cross-linguistic base is thus an important part of emotion research. All people experience biological events and processes associated with certain thoughts (or, as psychologists say, ‘appraisals’), but there is more to ‘emotion’ than just these physiological phenomena. Speakers of some languages talk about their emotional experiences as if they are located in some internal organ such as ‘the liver’, yet they cannot localise feeling in this physical organ. This phenomenon needs to be understood better, and one of the problems is finding a method of comparison that allows us to compare descriptions from different languages which show apparently great formal and semantic variation. Some simple concepts including feel and body are universal or near-universal, and as such are good candidates for terms of description which may help to eradicate confusion and exoticism from cross-linguistic comparison and semantic typology. Semantic analysis reveals great variation in concepts of emotion across languages and cultures — but such analysis requires a sound and well-founded methodology. While leaving room for different approaches to the task, we suggest that such a methodology can be based on empirically established linguistic universal (or near-universal) concepts, and on ‘cognitive scenarios’ articulated in terms of these concepts. Also, we warn against the danger of exoticism involved in taking all body part references ‘literally’. Above all, we argue that what is needed is a combination of empirical cross-linguistic investigations and a theoretical and methodological awareness, recognising the impossibility of exploring other people’s emotions without keeping language in focus: both as an object and as a tool of study.

Abstract

One of the fundamental issues for a language is its capacity to express
argument structure unambiguously. This study presents evidence
for the emergence and the incremental development of these
basic mechanisms in a newly developing language, Central Taurus
Sign Language. Our analyses identify universal patterns in both the
emergence and development of these mechanisms and in languagespecific
trajectories.

Abstract

This article addresses the recognition of reduced word forms, which are frequent in casual speech. We describe two experiments on Dutch showing that listeners only recognize highly reduced forms well when these forms are presented in their full context and that the probability that a listener recognizes a word form in limited context is strongly correlated with the degree of reduction of the form. Moreover, we show that the effect of degree of reduction can only partly be interpreted as the effect of the intelligibility of the acoustic signal, which is negatively correlated with degree of reduction. We discuss the consequences of our findings for models of spoken word recognition and especially for the role that storage plays in these models.

Abstract

Acoustic reduction refers to the frequent phenomenon in conversational speech that words are produced with fewer or lenited segments compared to their citation forms. The few published studies on the production and comprehension of acoustic reduction have important implications for the debate on the relevance of abstractions and exemplars in speech processing. This article discusses these implications. It first briefly introduces the key assumptions of simple abstractionist and simple exemplar-based models. It then discusses the literature on acoustic reduction and draws the conclusion that both types of models need to be extended to explain all findings. The ultimate model should allow for the storage of different pronunciation variants, but also reserve an important role for phonetic implementation. Furthermore, the recognition of a highly reduced pronunciation variant requires top down information and leads to activation of the corresponding unreduced variant, the variant that reaches listeners’ consciousness. These findings are best accounted for in hybrids models, assuming both abstract representations and exemplars. None of the hybrid models formulated so far can account for all data on reduced speech and we need further research for obtaining detailed insight into how speakers produce and listeners comprehend reduced speech.

Abstract

This paper discusses four experiments on Dutch which show that distinctive phonological features differ in their relevance for word recognition. The relevance of a feature for word recognition depends on its phonological stability, that is, the extent to which that feature is generally realized in accordance with its lexical specification in the relevant word position. If one feature value is uninformative, all values of that feature are less relevant for word recognition, with the least informative feature being the least relevant. Features differ in their relevance both in spoken and written word recognition, though the differences are more pronounced in auditory lexical decision than in self-paced reading.

Abstract

This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.

Abstract

Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.

Abstract

FOXP transcription factors play important roles in neurodevelopment, but little is known about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate gene expression by forming homo- and hetero-dimers with each other. Physical associations with other transcription factors might also modulate the functions of FOXP proteins. However, few FOXP-interacting transcription factors have been identified so far. Therefore, we sought to discover additional transcription factors that interact with the brain-expressed FOXP proteins, FOXP1, FOXP2 and FOXP4, through affinity-purifications of protein complexes followed by mass spectrometry. We identified seven novel FOXP-interacting transcription factors (NR2F1, NR2F2, SATB1, SATB2, SOX5, YY1 and ZMYM2), five of which have well-established roles in cortical development. Accordingly, we found that these transcription factors are co-expressed with FoxP2 in the deep layers of the cerebral cortex and also in the Purkinje cells of the cerebellum, suggesting that they may cooperate with the FoxPs to regulate neural gene expression in vivo. Moreover, we demonstrated that etiological mutations of FOXP1 and FOXP2, known to cause neurodevelopmental disorders, severely disrupted the interactions with FOXP-interacting transcription factors. Additionally, we pinpointed specific regions within FOXP2 sequence involved in mediating these interactions. Thus, by expanding the FOXP interactome we have uncovered part of a broader neural transcription factor network involved in cortical development, providing novel molecular insights into the transcriptional architecture underlying brain development and neurodevelopmental disorders.

Abstract

Mutations affecting the transcription factor FOXP2 cause a rare form of severe speech and language disorder. Although it is clear that sufficient FOXP2 expression is crucial for normal brain development, little is known about how this transcription factor is regulated. To investigate post-translational mechanisms for FOXP2 regulation, we searched for protein interaction partners of FOXP2, and identified members of the PIAS family as novel FOXP2 interactors. PIAS proteins mediate post-translational modification of a range of target proteins with small ubiquitin-like modifiers (SUMOs). We found that FOXP2 can be modified with all three human SUMO proteins and that PIAS1 promotes this process. An aetiological FOXP2 mutation found in a family with speech and language disorder markedly reduced FOXP2 SUMOylation. We demonstrate that FOXP2 is SUMOylated at a single major site, which is conserved in all FOXP2 vertebrate orthologues and in the paralogues FOXP1 and FOXP4. Abolishing this site did not lead to detectable changes in FOXP2 subcellular localization, stability, dimerization or transcriptional repression in cellular assays, but the conservation of this site suggests a potential role for SUMOylation in regulating FOXP2 activity in vivo.

Abstract

Human language offers rich ways to track, compare, and engage the attentional and epistemic states of interlocutors. While this task is central to everyday communication, our knowledge of the cross-linguistic grammatical means that target such intersubjective coordination has remained basic. In two serialised papers, we introduce the term ‘engagement’ to refer to grammaticalised means for encoding the relative mental directedness of speaker and addressee towards an entity or state of affairs, and describe examples of engagement systems from around the world. Engagement systems express the speaker’s assumptions about the degree to which their attention or knowledge is shared (or not shared) by the addressee. Engagement categories can operate at the level of entities in the here-and-now (deixis), in the unfolding discourse (definiteness vs indefiniteness), entire event-depicting propositions (through markers with clausal scope), and even metapropositions (potentially scoping over evidential values). In this first paper, we introduce engagement and situate it with respect to existing work on intersubjectivity in language. We then explore the key role of deixis in coordinating attention and expressing engagement, moving through increasingly intercognitive deictic systems from those that focus on the the location of the speaker, to those that encode the attentional state of the addressee.

Abstract

Engagement systems encode the relative accessibility of an entity or state of affairs to the speaker and addressee, and are thus underpinned by our social cognitive capacities. In our first foray into engagement (Part 1), we focused on specialised semantic contrasts as found in entity-level deictic systems, tailored to the primal scenario for establishing joint attention. This second paper broadens out to an exploration of engagement at the level of events and even metapropositions, and comments on how such systems may evolve. The languages Andoke and Kogi demonstrate what a canonical system of engagement with clausal scope looks like, symmetrically assigning ‘knowing’ and ‘unknowing’ values to speaker and addressee. Engagement is also found cross-cutting other epistemic categories such as evidentiality, for example where a complex assessment of relative speaker and addressee awareness concerns the source of information rather than the proposition itself. Data from the language Abui reveal that one way in which engagement systems can develop is by upscoping demonstratives, which normally denote entities, to apply at the level of events. We conclude by stressing the need for studies that focus on what difference it makes, in terms of communicative behaviour, for intersubjective coordination to be managed by engagement systems as opposed to other, non-grammaticalised means.

Abstract

When we have spoken conversations, it is usually in the context of competing sounds within our environment. Speech can be masked by many different kinds of sounds, for example, machinery noise and the speech of others, and these different sounds place differing demands on cognitive resources. In this talk, I will present data from a series of functional magnetic resonance imaging (fMRI) studies in which the informational properties of background sounds have been manipulated to make them more or less similar to speech. I will demonstrate the neural effects associated with speaking over and listening to these sounds, and demonstrate how in perception these effects are modulated by the age of the listener. The results will be interpreted within a framework of auditory processing developed from primate neurophysiology and human functional imaging work (Rauschecker and Scott 2009).

Abstract

Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA

Abstract

We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology

Abstract

We begin by thanking the respondents for their thoughtful comments and insightful leads. The overall impression we are left with by this exchange is one of progress, even if no consensus remains about the particular hypothesis we raise. To date, there has been a failure to seriously engage with the possibility that humans might adapt their communication to ecological factors. In these exchanges, we see signs of serious engagement with that possibility. Most respondents expressed agreement with the notion that our central premise—that language is ecologically adaptive—requires further exploration and may in fact be operative. We are pleased to see this shift in discourse, and to witness a heightening appreciation of possible ecological constraints on language evolution. It is that shift in discourse that represents progress in our view. Our hope is that future work will continue to explore these issues, paying careful attention to the fact that the human larynx is clearly sensitive to characteristics of ambient air. More generally, we think this exchange is indicative of the growing realization that inquiries into language development must consider potential external factors (see Dediu 2015)...

Abstract

In contrast to the large amount of dual-task research investigating the coordination of a linguistic and a nonlinguistic
task, little research has investigated how two linguistic tasks are coordinated. However, such research
would greatly contribute to our understanding of how interlocutors combine speech planning and listening in
conversation. In three dual-task experiments we studied how participants coordinated the processing of an
auditory stimulus (S1), which was either a syllable or a tone, with selecting a name for a picture (S2). Two SOAs,
of 0 ms and 1000 ms, were used. To vary the time required for lexical selection and to determine when lexical
selection took place, the pictures were presented with categorically related or unrelated distractor words. In
Experiment 1 participants responded overtly to both stimuli. In Experiments 2 and 3, S1 was not responded to
overtly, but determined how to respond to S2, by naming the picture or reading the distractor aloud. Experiment
1 yielded additive effects of SOA and distractor type on the picture naming latencies. The presence of semantic
interference at both SOAs indicated that lexical selection occurred after response selection for S1. With respect to
the coordination of S1 and S2 processing, Experiments 2 and 3 yielded inconclusive results. In all experiments,
syllables interfered more with picture naming than tones. This is likely because the syllables activated phonological
representations also implicated in picture naming. The theoretical and methodological implications of the
findings are discussed.

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Abstract

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia

Abstract

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Abstract

Objectives: Our goal was to assess MR image uniformity by investigating aspects influencing said uniformity via a method laid out by the National Electrical Manufacturers Association (NEMA).
Methods: Six metallic materials embedded in a glass phantom were scanned (i.e. Au, Ag, Al, Au-Ag-Pd alloy, Ti and Co-Cr alloy) as well as a reference image. Sequences included spin echo (SE) and gradient echo (GRE) scanned in three planes (i.e. axial, coronal, and sagittal). Moreover, three surface coil types (i.e. head and neck, Brain, and temporomandibular joint coils) and two image correction methods (i.e. surface coil intensity correction or SCIC, phased array uniformity enhancement or PURE) were employed to evaluate their effectiveness on image uniformity. Image uniformity was assessed using the National Electrical Manufacturers Association peak-deviation non-uniformity method.
Results: Results showed that temporomandibular joint coils elicited the least uniform image and brain coils outperformed head and neck coils when metallic materials were present. Additionally, when metallic materials were present, spin echo outperformed gradient echo especially for Co-Cr (particularly in the axial plane). Furthermore, both SCIC and PURE improved image uniformity compared to uncorrected images, and SCIC slightly surpassed PURE when metallic metals were present. Lastly, Co-Cr elicited the least uniform image while other metallic materials generally showed similar patterns (i.e. no significant deviation from images without metallic metals).
Conclusions: Overall, a quantitative understanding of the factors influencing MR image uniformity (e.g. coil type, imaging method, metal susceptibility, and post-hoc correction method) is advantageous to optimize image quality, assists clinical interpretation, and may result in improved medical and dental care.

Abstract

This article presents the ventriloquist paradigm, an innovative method for studying speech processing in dialogue whereby participants interact face-to-face with a confederate who, unbeknownst to them, communicates by playing pre-recorded speech. Results show that the paradigm convinces more participants that the speech is live than a setup without the face-to-face element, and it elicits more interactive conversation than a setup in which participants believe their partner is a computer. By reconciling the ecological validity of a conversational context with full experimental control over phonetic exposure, the paradigm offers a wealth of new possibilities for studying speech processing in interaction.

Abstract

A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.

Abstract

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

Abstract

Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.

Abstract

This study investigates word-learning using a new experimental paradigm that integrates three processes: (a) extracting a word out of a continuous sound sequence, (b) inferring its referential meanings in context, (c) mapping the segmented word onto its broader intended referent, such as other objects of the same semantic category, and to novel utterances. Previous work has examined the role of statistical learning and/or of prosody in each of these processes separately. Here, we combine these strands of investigation into a single experimental approach, in which participants viewed a photograph belonging to one of three semantic categories while hearing a complex, five-word utterance containing a target word. Six between-subjects conditions were tested with 20 adult participants each. In condition 1, the only cue to word-meaning mapping was the co-occurrence of word and referents. This statistical cue was present in all conditions. In condition 2, the target word was sounded at a higher pitch. In condition 3, random words were sounded at a higher pitch, creating an inconsistent cue. In condition 4, the duration of the target word was lengthened. In conditions 5 and 6, an extraneous acoustic cue and a visual cue were associated with the target word, respectively. Performance in this word-learning task was significantly higher than that observed with simple co-occurrence only when pitch prominence consistently marked the target word. We discuss implications for the pragmatic value of pitch marking as well as the relevance of our findings to language acquisition and language evolution.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.

Abstract

Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.

Abstract

Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established that dyslexia is a significantly heritable trait with a neurobiological basis. The etiological mechanisms remain elusive, however, despite being the focus of intensive multidisciplinary research. All attempts to map quantitative-trait loci (QTLs) influencing dyslexia susceptibility have targeted specific chromosomal regions, so that inferences regarding genetic etiology have been made on the basis of very limited information. Here we present the first two complete QTL-based genome-wide scans for this trait, in large samples of families from the United Kingdom and United States. Using single-point analysis, linkage to marker D18S53 was independently identified as being one of the most significant results of the genome in each scan (P< or =0.0004 for single word-reading ability in each family sample). Multipoint analysis gave increased evidence of 18p11.2 linkage for single-word reading, yielding top empirical P values of 0.00001 (UK) and 0.0004 (US). Measures related to phonological and orthographic processing also showed linkage at this locus. We replicated linkage to 18p11.2 in a third independent sample of families (from the UK), in which the strongest evidence came from a phoneme-awareness measure (most significant P value=0.00004). A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This is the first report of QTL-based genome-wide scanning for a human cognitive trait.

Abstract

Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.

Abstract

Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.

Abstract

In this study we investigated the availability of non-target language semantic features in bilingual speech processing. We recorded EEG from Dutch-English bilinguals who listened to spoken sentences in their L2 (English) or L1 (Dutch). In Experiments 1 and 3 the sentences contained an interlingual homophone. The sentence context was either biased towards the target language meaning of the homophone (target biased), the non-target language meaning (non-target biased), or neither meaning of the homophone (fully incongruent). These conditions were each compared to a semantically congruent control condition. In L2 sentences we observed an N400 in the non-target biased condition that had an earlier offset than the N400 to fully incongruent homophones. In the target biased condition, a negativity emerged that was later than the N400 to fully incongruent homophones. In L1 contexts, neither target biased nor non-target biased homophones yielded significant N400 effects (compared to the control condition). In Experiments 2 and 4 the sentences contained a language switch to a non-target language word that could be semantically congruent or incongruent. Semantically incongruent words (switched, and non-switched) elicited an N400 effect. The N400 to semantically congruent language-switched words had an earlier offset than the N400 to incongruent words. Both congruent and incongruent language switches elicited a Late Positive Component (LPC). These findings show that bilinguals activate both meanings of interlingual homophones irrespective of their contextual fit. In L2 contexts, the target-language meaning of the homophone has a head start over the non-target language meaning. The target-language head start is also evident for language switches from both L2-to-L1 and L1-to-L2

Abstract

Using eye-tracking as a window on cognitive processing, this study investigates language effects on attention to motion events in a non-verbal task. We compare gaze allocation patterns by native speakers of German and Modern Standard Arabic (MSA), two languages that differ with regard to the grammaticalization of temporal concepts. Findings of the non-verbal task, in which speakers watch dynamic event scenes while performing an auditory distracter task, are compared to gaze allocation patterns which were obtained in an event description task, using the same stimuli. We investigate whether differences in the grammatical aspectual systems of German and MSA affect the extent to which endpoints of motion events are linguistically encoded and visually processed in the two tasks. In the linguistic task, we find clear language differences in endpoint encoding and in the eye-tracking data (attention to event endpoints) as well: German speakers attend to and linguistically encode endpoints more frequently than speakers of MSA. The fixation data in the non-verbal task show similar language effects, providing relevant insights with regard to the language-and-thought debate. The present study is one of the few studies that focus explicitly on language effects related to grammatical concepts, as opposed to lexical concepts.

Abstract

From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.

Abstract

It has long been claimed that there is no lexical field of smell, and that smell is of too little validity to be expressed in grammar. We demonstrate both claims are false. The Cha'palaa language (Ecuador) has at least 15 abstract smell terms, each of which is formed using a type of classifier previously thought not to exist. Moreover, using conversational corpora we show that Cha'palaa speakers also talk about smell more than Imbabura Quechua and English speakers. Together, this shows how language and social interaction may jointly reflect distinct cultural orientations towards sensory experience in general and olfaction in particular.

Abstract

This article expands the study of other-initiated repair in conversation—when one party
signals a problemwith producing or perceiving another’s turn at talk—into the domain
of visual bodily behavior. It presents one primary cross-linguistic finding about the
timing of visual bodily behavior in repair sequences: if the party who initiates repair
accompanies their turn with a “hold”—when relatively dynamic movements are
temporarily andmeaningfully held static—this positionwill not be disengaged until the
problem is resolved and the sequence closed. We base this finding on qualitative and
quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
uncovered by this comparison suggest that visual bodily practices have been
semiotized for similar interactive functions across different languages and modalities
due to common pressures in face-to-face interaction.

Abstract

Gratitude is argued to have evolved to motivate and maintain social reciprocity among people, and to be linked to a wide range of positive effects — social, psychological, and even physical. But is socially reciprocal behaviour dependent on the expression of gratitude, for example by saying "thank you" as in English? Current research has not included cross-cultural elements, and has tended to conflate gratitude as an emotion with gratitude as a linguistic practice, as might appear to be the case in English. Here we ask to what extent people actually express gratitude in different societies by focussing on episodes of everyday life where someone obtains a good, service, or support from another, and comparing these episodes across eight languages from five continents. What we find is that expressions of gratitude in these episodes are remarkably rare, suggesting that social reciprocity in everyday life relies on tacit understandings of people’s rights and duties surrounding mutual assistance and collaboration. At the same time, we also find minor cross-cultural variation, with slightly higher rates in Western European languages English and Italian, showing that universal tendencies of social reciprocity should not be conflated with more culturally variable practices of expressing gratitude. Our study complements previous experimental and culture-specific research on social reciprocity with a systematic comparison of audiovisual corpora of naturally occurring social interaction from different cultures from around the world.

Abstract

In this event-related FMRI study we investigated the effect of five days of implicit acquisition on preference classification by means of an artificial grammar learning (AGL) paradigm based on the structural mere-exposure effect and preference classification using a simple right-linear unification grammar. This allowed us to investigate implicit AGL in a proper learning design by including baseline measurements prior to grammar exposure. After 5 days of implicit acquisition, the FMRI results showed activations in a network of brain regions including the inferior frontal (centered on BA 44/45) and the medial prefrontal regions (centered on BA 8/32). Importantly, and central to this study, the inclusion of a naive preference FMRI baseline measurement allowed us to conclude that these FMRI findings were the intrinsic outcomes of the learning process itself and not a reflection of a preexisting functionality recruited during classification, independent of acquisition. Support for the implicit nature of the knowledge utilized during preference classification on day 5 come from the fact that the basal ganglia, associated with implicit procedural learning, were activated during classification, while the medial temporal lobe system, associated with explicit declarative memory, was consistently deactivated. Thus, preference classification in combination with structural mere-exposure can be used to investigate structural sequence processing (syntax) in unsupervised AGL paradigms with proper learning designs.

Abstract

Stroke-induced aphasia is associated with adverse effects on quality of life and the ability to return to work. For patients and clinicians the possibility of relying on valid predictors of recovery is an important asset in the clinical management of stroke-related impairment. Age, level of education, type and severity of initial symptoms are established predictors of recovery. However, anatomical predictors are still poorly understood. In this prospective longitudinal study, we intended to assess anatomical predictors of recovery derived from diffusion tractography of the perisylvian language networks. Our study focused on the arcuate fasciculus, a language pathway composed of three segments connecting Wernicke’s to Broca’s region (i.e. long segment), Wernicke’s to Geschwind’s region (i.e. posterior segment) and Broca’s to Geschwind’s region (i.e. anterior segment). In our study we were particularly interested in understanding how lateralization of the arcuate fasciculus impacts on severity of symptoms and their recovery. Sixteen patients (10 males; mean age 60 ± 17 years, range 28–87 years) underwent post stroke language assessment with the Revised Western Aphasia Battery and neuroimaging scanning within a fortnight from symptoms onset. Language assessment was repeated at 6 months. Backward elimination analysis identified a subset of predictor variables (age, sex, lesion size) to be introduced to further regression analyses. A hierarchical regression was conducted with the longitudinal aphasia severity as the dependent variable. The first model included the subset of variables as previously defined. The second model additionally introduced the left and right arcuate fasciculus (separate analysis for each segment). Lesion size was identified as the only independent predictor of longitudinal aphasia severity in the left hemisphere [beta = −0.630, t(−3.129), P = 0.011]. For the right hemisphere, age [beta = −0.678, t(–3.087), P = 0.010] and volume of the long segment of the arcuate fasciculus [beta = 0.730, t(2.732), P = 0.020] were predictors of longitudinal aphasia severity. Adding the volume of the right long segment to the first-level model increased the overall predictive power of the model from 28% to 57% [F(1,11) = 7.46, P = 0.02]. These findings suggest that different predictors of recovery are at play in the left and right hemisphere. The right hemisphere language network seems to be important in aphasia recovery after left hemispheric stroke.

Abstract

Patients with stroke offer a unique window into understanding human brain function. Mapping stroke lesions poses several challenges due to the complexity of the lesion anatomy and the mechanisms causing local and remote disruption on brain networks. In this prospective longitudinal study, we compare standard and advanced approaches to white matter lesion mapping applied to acute stroke patients with aphasia. Eighteen patients with acute left hemisphere stroke were recruited and scanned within two weeks from symptom onset. Aphasia assessment was performed at baseline and six-month follow-up. Structural and diffusion MRI contrasts indicated an area of maximum overlap in the anterior external/extreme capsule with diffusion images showing a larger overlap extending into posterior perisylvian regions. Anatomical predictors of recovery included damage to ipsilesional tracts (as shown by both structural and diffusion images) and contralesional tracts (as shown by diffusion images only). These findings indicate converging results from structural and diffusion lesion mapping methods but also clear differences between the two approaches in their ability to identify predictors of recovery outside the lesioned regions.

Abstract

The occipital and frontal lobes are anatomically distant yet functionally highly integrated to generate some of the most complex behaviour. A series of long associative fibres, such as the fronto-occipital networks, mediate this integration via rapid feed-forward propagation of visual input to anterior frontal regions and direct top–down modulation of early visual processing.

Despite the vast number of anatomical investigations a general consensus on the anatomy of fronto-occipital connections is not forthcoming. For example, in the monkey the existence of a human equivalent of the ‘inferior fronto-occipital fasciculus’ (iFOF) has not been demonstrated. Conversely, a ‘superior fronto-occipital fasciculus’ (sFOF), also referred to as ‘subcallosal bundle’ by some authors, is reported in monkey axonal tracing studies but not in human dissections.

In this study our aim is twofold. First, we use diffusion tractography to delineate the in vivo anatomy of the sFOF and the iFOF in 30 healthy subjects and three acallosal brains. Second, we provide a comprehensive review of the post-mortem and neuroimaging studies of the fronto-occipital connections published over the last two centuries, together with the first integral translation of Onufrowicz's original description of a human fronto-occipital fasciculus (1887) and Muratoff's report of the ‘subcallosal bundle’ in animals (1893).

Our tractography dissections suggest that in the human brain (i) the iFOF is a bilateral association pathway connecting ventro-medial occipital cortex to orbital and polar frontal cortex, (ii) the sFOF overlaps with branches of the superior longitudinal fasciculus (SLF) and probably represents an ‘occipital extension’ of the SLF, (iii) the subcallosal bundle of Muratoff is probably a complex tract encompassing ascending thalamo-frontal and descending fronto-caudate connections and is therefore a projection rather than an associative tract.

In conclusion, our experimental findings and review of the literature suggest that a ventral pathway in humans, namely the iFOF, mediates a direct communication between occipital and frontal lobes. Whether the iFOF represents a unique human pathway awaits further ad hoc investigations in animals.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's social categorization (out-group member) affect memory and the credibility of the message (e.g., less trustworthiness). In the present study, we go one step further and ask whether evaluations of messages are also affected by regional accents—accents from a different region than the listener. In the current study, we report results from three experiments on immediate memory recognition and immediate credibility assessments as well as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same region as the participant—and regional accents—from native speakers of a different country than the participants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the
messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's
social categorization (out-group member) affect memory and the credibility of the message (e.g., less trust-
worthiness). In the present study, we go one step further and ask whether evaluations of messages are also
affected by regional accents—accents from a different region than the listener. In the current study, we report
results from three experiments on immediate memory recognition and immediate credibility assessments as well
as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same
region as the participant—and regional accents—from native speakers of a different country than the partici-
pants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by
accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The aim of the present fMRI study was to investigate whether typical and dyslexic adult readers differed in the neural correlates of audiovisual speech processing. We tested for Blood Oxygen-Level Dependent (BOLD) activity differences between these two groups in a 1-back task, as they processed written (word, illegal consonant strings) and spoken (auditory, visual and audiovisual) stimuli. When processing written stimuli, dyslexic readers showed reduced activity in the supramarginal gyrus, a region suggested to play an important role in phonological processing, but only when they processed strings of consonants, not when they read words. During the speech perception tasks, dyslexic readers were only slower than typical readers in their behavioral responses in the visual speech condition. Additionally, dyslexic readers presented reduced neural activation in the auditory, the visual, and the audiovisual speech conditions. The groups also differed in terms of superadditivity, with dyslexic readers showing decreased neural activation in the regions of interest. An additional analysis focusing on vision-related processing during the audiovisual condition showed diminished activation for the dyslexic readers in a fusiform gyrus cluster. Our results thus suggest that there are differences in audiovisual speech processing between dyslexic and normal readers. These differences might be explained by difficulties in processing the unisensory components of audiovisual speech, more specifically, dyslexic readers may benefit less from visual information during audiovisual speech processing than typical readers. Given that visual speech processing supports the development of phonological skills fundamental in reading, differences in processing of visual speech could contribute to differences in reading ability between typical and dyslexic readers.

Abstract

Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.

Abstract

Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319. The region of association is also directly upstream of a third gene, THEM2. We found evidence of these associations in a second sample of siblings from the United Kingdom, as well as in an independent sample of twin-based sibships from Colorado. One main RD risk haplotype that has a frequency of ∼12% was found in both the U.K. and U.S. samples. The haplotype is not distinguished by any protein-coding polymorphisms, and, therefore, the functional variation may relate to gene expression. The QTL influences a broad range of reading-related cognitive abilities but has no significant impact on general cognitive performance in these samples. In addition, the QTL effect may be largely limited to the severe range of reading disability.

Abstract

A locus on chromosome 2p12-16 has been implicated in dyslexia susceptibility by two independent linkage studies, including our own study of 119 nuclear twin-based families, each with at least one reading-disabled child. Nonetheless, no variant of any gene has been reported to show association with dyslexia, and no consistent clinical evidence exists to identify candidate genes with any strong a priori logic. We used 21 microsatellite markers spanning 2p12-16 to refine our 1-LOD unit linkage support interval to 12cM between D2S337 and D2S286. Then, in quantitative association analysis, two microsatellites yielded P values<0.05 across a range of reading-related measures (D2S2378 and D2S2114). The exon/intron borders of two positional candidate genes within the region were characterized, and the exons were screened for polymorphisms. The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development. Two non-synonymous single nucleotide polymorphisms were found in SEMA4F, each with a heterozygosity of 0.03. One intronic single nucleotide polymorphism between exons 12 and 13 of SEMA4F was tested for quantitative association, but no significant association was found. Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent. Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics.

Abstract

Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.

Abstract

Results from a recent neuroimaging study on spoken sentence comprehension have been interpreted as evidence for cortical entrainment to hierarchical syntactic structure. We present a simple computational model that predicts the power spectra from this study, even
though the model's linguistic knowledge is restricted to the lexical level, and word-level representations are not combined into higher-level units (phrases or sentences). Hence, the
cortical entrainment results can also be explained from the lexical properties of the stimuli, without recourse to hierarchical syntax.

Abstract

Prior language input is not lost but integrated with the current input. This principle is demonstrated by “reservoir computing”: Untrained recurrent neural networks project input sequences onto a random point in high-dimensional state space. Earlier inputs can be retrieved from this projection, albeit less reliably so as more input is received. The bottleneck is therefore not “Now-or-Never” but “Sooner-is-Better.

Abstract

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders

Abstract

When talking, speakers continuously monitor and use the auditory feedback of their own voice to control and inform speech production processes. When speakers are provided with auditory feedback that is perturbed in real time, most of them compensate for this by opposing the feedback perturbation. But some speakers follow the perturbation. In the current study, we investigated whether the state of the speech production system at perturbation onset may determine what type of response (opposing or following) is given. The results suggest that whether a perturbation-related response is opposing or following depends on ongoing fluctuations of the production system: It initially responds by doing the opposite of what it was doing. This effect and the non-trivial proportion of following responses suggest that current production models are inadequate: They need to account for why responses to unexpected sensory feedback depend on the production-system’s state at the time of perturbation.