Publications

Abstract

Background
Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder; childhood apraxia of speech (CAS), yet few cases have been reported, limiting knowledge of the condition.

Methods
Here we phenotyped 29 individuals from 18 families with pathogenic FOXP2-only variants (13 loss-of-function, 5 missense variants; 14 males; aged 2 years to 62 years). Health and development (cognitive, motor, social domains) was examined, including speech and language outcomes with the first cross-linguistic analysis of English and German.

Results
Speech disorders were prevalent (24/26, 92%) and CAS was most common (23/26, 89%), with similar speech presentations across English and German. Speech was still impaired in adulthood and some speech sounds (e.g. ‘th’, ‘r’, ‘ch’, ‘j’) were never acquired. Language impairments (22/26, 85%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/27, 37%), fine (14/27, 52%) and gross (14/27, 52%) motor impairment, anxiety (6/28, 21%), depression (7/28, 25%), and sleep disturbance (11/15, 44%). Physical features were common (23/28, 82%) but with no consistent pattern. Cognition ranged from average to mildly impaired, and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition.

Conclusions
Although we identify increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of FOXP2 dysfunction remain relatively specific to speech disorder, as compared to other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that FOXP2 provides a valuable entrypoint for examining the neurobiological bases of speech disorder.

Abstract

In this study we introduce an information-theoretical formulation of the emergence of type- and token-based effects in morphological processing. We describe a probabilistic measure of the informational complexity of a word, its information residual, which encompasses the combined influences of the amount of information contained by the target word and the amount of information carried by its nested morphological paradigms. By means of re-analyses of previously published data on Dutch words we show that the information residual outperforms the combination of traditional token- and type-based counts in predicting response latencies in visual lexical decision, and at the same time provides a parsimonious account of inflectional, derivational, and compounding processes.

Abstract

In this paper, we show that both token and type-based effects in lexical processing can result from a single, token-based, system, and therefore, do not necessarily reflect different levels of processing. We report three Simple Recurrent Networks modeling Dutch past-tense formation. These networks show token-based frequency effects and type-based analogical effects closely matching the behavior of human participants when producing past-tense forms for both existing verbs and pseudo-verbs. The third network covers the full vocabulary of Dutch, without imposing predefined linguistic structure on the input or output words.

Abstract

Finnish has a very productive morphology in which a stem can give rise to several thousand words. This study presents a visual lexical decision experiment addressing the processing consequences of the huge productivity of Finnish morphology. The authors observed that in Finnish words with larger morphological families elicited shorter response latencies. However, in contrast to Dutch and Hebrew, it is not the complete morphological family of a complex Finnish word that codetermines response latencies but only the subset of words directly derived from the complex word itself. Comparisons with parallel experiments using translation equivalents in Dutch and Hebrew showed substantial cross-language predictivity of family size between Finnish and Dutch but not between Finnish and Hebrew, reflecting the different ways in which the Hebrew and Finnish morphological systems contribute to the semantic organization of concepts in the mental lexicon.

Abstract

Caregiver abstract talk during shared reading predicts preschool-age children’s vocabulary development. However, previous research has focused on level of abstraction with less consideration of the style of extratextual talk. Here, we investigated the relation between these two dimensions of extratextual talk, and their contributions to variance in children’s vocabulary skills. Caregiver level of abstraction was associated with an interactive reading style. Controlling for socioeconomic status and child age, high interactivity predicted children’s concurrent vocabulary skills whereas abstraction did not. Controlling for earlier vocabulary skills, neither dimension of the extratextual talk predicted later vocabulary. Theoretical and practical relevance are discussed.

Abstract

We describe the phenomenon of schwa-deletion in Hindi and how it is handled in the pronunciation component of a multilingual concatenative text-to-speech system. Each of the consonants in written Hindi is associated with an “inherent” schwa vowel which is not represented in the orthography. For instance, the Hindi word pronounced as [namak] (’salt’) is represented in the orthography using the consonantal characters for [n], [m], and [k]. Two main factors complicate the issue of schwa pronunciation in Hindi. First, not every schwa following a consonant is pronounced within the word. Second, in multimorphemic words, the presence of a morpheme boundary can block schwa deletion where it might otherwise occur. We propose a model for schwa-deletion which combines a general purpose schwa-deletion rule proposed in the linguistics literature (Ohala, 1983), with additional morphological analysis necessitated by the high frequency of compounds in our database. The system is implemented in the framework of finite-state transducer technology.

Abstract

Specific language impairment (SLI) is defined as an unexplained failure to acquire normal language skills despite adequate intelligence and opportunity. We have reported elsewhere a full-genome scan in 98 nuclear families affected by this disorder, with the use of three quantitative traits of language ability (the expressive and receptive tests of the Clinical Evaluation of Language Fundamentals and a test of nonsense word repetition). This screen implicated two quantitative trait loci, one on chromosome 16q (SLI1) and a second on chromosome 19q (SLI2). However, a second independent genome screen performed by another group, with the use of parametric linkage analyses in extended pedigrees, found little evidence for the involvement of either of these regions in SLI. To investigate these loci further, we have collected a second sample, consisting of 86 families (367 individuals, 174 independent sib pairs), all with probands whose language skills are ⩾1.5 SD below the mean for their age. Haseman-Elston linkage analysis resulted in a maximum LOD score (MLS) of 2.84 on chromosome 16 and an MLS of 2.31 on chromosome 19, both of which represent significant linkage at the 2% level. Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs). Analysis of linkage within this pooled group strengthened the evidence for linkage at SLI1 and yielded a highly significant LOD score (MLS = 7.46, interval empirical P<.0004). Furthermore, linkage at the same locus was also demonstrated to three reading-related measures (basic reading [MLS = 1.49], spelling [MLS = 2.67], and reading comprehension [MLS = 1.99] subtests of the Wechsler Objectives Reading Dimensions).

Abstract

On simple intelligibility measures, high-quality synthesiser output now scores almost as well as natural speech. Nevertheless, it is widely agreed that perception of synthetic speech is a harder task for listeners than perception of natural speech; in particular, it has been hypothesized that listeners have difficulty identifying phonemes in synthetic speech. If so, a simple measure of the speed with which a phoneme can be identified should prove a useful tool for comparing perception of synthetic and natural speech. The phoneme detection task was here used in three experiments comparing perception of natural and synthetic speech. In the first, response times to synthetic and natural targets were not significantly different, but in the second and third experiments response times to synthetic targets were significantly slower than to natural targets. A speed-accuracy tradeoff in the third experiment suggests that an important factor in this task is the response criterion adopted by subjects. It is concluded that the phoneme detection task is a useful tool for investigating phonetic processing of synthetic speech input, but subjects must be encouraged to adopt a response criterion which emphasizes rapid responding. When this is the case, significantly longer response times for synthetic targets can indicate a processing disadvantage for synthetic speech at an early level of phonetic analysis.

Abstract

The reading process depends both on the text and on the reader. When we read a text, propositions in the current input are matched to propositions in the memory representation of the previous discourse but also to knowledge structures in long‐term memory. Therefore, memory‐based text processing refers both to the bottom‐up processing of the text and to the top‐down activation of the reader's knowledge. In this article, we focus on the role of cognitive structures in the reader's knowledge. We argue that causality is an important category in structuring human knowledge and that this property has consequences for text processing. Some research is discussed that illustrates that the more the information in the text reflects causal categories, the more easily the information is processed.

Abstract

We propose that word recognition in continuous speech is subject to constraints on what may constitute a viable word of the language. This Possible-Word Constraint (PWC) reduces activation of candidate words if their recognition would imply word status for adjacent input which could not be a word - for instance, a single consonant. In two word-spotting experiments, listeners found it much harder to detectapple,for example, infapple(where [f] alone would be an impossible word), than invuffapple(wherevuffcould be a word of English). We demonstrate that the PWC can readily be implemented in a competition-based model of continuous speech recognition, as a constraint on the process of competition between candidate words; where a stretch of speech between a candidate word and a (known or likely) word boundary is not a possible word, activation of the candidate word is reduced. This implementation accurately simulates both the present results and data from a range of earlier studies of speech segmentation.

Abstract

The early recognition of fundamental social actions, like questions, is crucial for understanding the speaker’s intended message and planning a timely response in conversation. Questions themselves may express more than one social action category (e.g., an information request “What time is it?”, an invitation “Will you come to my party?” or a criticism “Are you crazy?”). Although human language use occurs predominantly in a multimodal context, prior research on social actions has mainly focused on the verbal modality. This study breaks new ground by investigating how conversational facial signals may map onto the expression of different types of social actions conveyed through questions. The distribution, timing, and temporal organization of facial signals across social actions was analysed in a rich corpus of naturalistic, dyadic face-to-face Dutch conversations. These social actions were: Information Requests, Understanding Checks, Self-Directed questions, Stance or Sentiment questions, Other-Initiated Repairs, Active Participation questions, questions for Structuring, Initiating or Maintaining Conversation, and Plans and Actions questions. This is the first study to reveal differences in distribution and timing of facial signals across different types of social actions. The findings raise the possibility that facial signals may facilitate social action recognition during language processing in multimodal face-to-face interaction.

Abstract

In conversation, recognizing social actions (similar to ‘speech acts’) early is important to quickly understand the speaker’s intended message and to provide a fast response. Fast turns are typical for fundamental social actions like questions, since a long gap can indicate a dispreferred response. In multimodal face-to-face interaction, visual signals may contribute to this fast dynamic. The face is an important source of visual signalling, and previous research found that prevalent facial signals such as eyebrow movements facilitate the rapid recognition of questions. We aimed to investigate whether early eyebrow movements with natural movement intensities facilitate question identification, and whether specific intensities are more helpful in detecting questions. Participants were instructed to view videos of avatars where the presence of eyebrow movements (eyebrow frown or raise vs. no eyebrow movement) was manipulated, and to indicate whether the utterance in the video was a question or statement. Results showed higher accuracies for questions with eyebrow frowns, and faster response times for questions with eyebrow frowns and eyebrow raises. No additional effect was observed for the specific movement intensity. This suggests that eyebrow movements that are representative of naturalistic multimodal behaviour facilitate question recognition.

Abstract

Conversation is a time-pressured environment. Recognizing a social action (the ‘‘speech act,’’ such as a question requesting information) early is crucial in conversation to quickly understand the intended message and plan a timely response. Fast turns between interlocutors are especially relevant for responses to questions since a long gap may be meaningful by itself. Human language is multimodal, involving speech as well as visual signals from the body, including the face. But little is known about how conversational facial signals contribute to the communication of social actions. Some of the most prominent facial signals in conversation are eyebrow movements. Previous studies found links between eyebrow movements and questions, suggesting that these facial signals could contribute to the rapid recognition of questions. Therefore, we aimed to investigate whether early eyebrow movements (eyebrow frown or raise vs. no eyebrow movement) facilitate question identification. Participants were instructed to view videos of avatars where the presence of eyebrow movements accompanying questions was manipulated. Their task was to indicate whether the utterance was a question or a statement as accurately and quickly as possible. Data were collected using the online testing platform Gorilla. Results showed higher accuracies and faster response times for questions with eyebrow frowns, suggesting a facilitative role of eyebrow frowns for question identification. This means that facial signals can critically contribute to the communication of social actions in conversation by signaling social action-specific visual information and providing visual cues to speakers’ intentions.

Abstract

Over the past two decades, the study of resting-state functional magnetic resonance imaging has revealed that functional connectivity within and between networks is linked to cognitive states and pathologies. However, the white matter connections supporting this connectivity remain only partially described. We developed a method to jointly map the white and grey matter contributing to each resting-state network (RSN). Using the Human Connectome Project, we generated an atlas of 30 RSNs. The method also highlighted the overlap between networks, which revealed that most of the brain’s white matter (89%) is shared between multiple RSNs, with 16% shared by at least 7 RSNs. These overlaps, especially the existence of regions shared by numerous networks, suggest that white matter lesions in these areas might strongly impact the communication within networks. We provide an atlas and an open-source software to explore the joint contribution of white and grey matter to RSNs and facilitate the study of the impact of white matter damage to these networks. In a first application of the software with clinical data, we were able to link stroke patients and impacted RSNs, showing that their symptoms aligned well with the estimated functions of the networks.

Abstract

Non-invasive brain stimulation techniques are popular tools to investigate brain function in health and disease. Although transcranial magnetic stimulation (TMS) is widely used in cognitive neuroscience research to probe causal structure-function relationships, studies often yield inconclusive results. To improve the effectiveness of TMS studies, we argue that the cognitive neuroscience community needs to revise the stimulation focality principle – the spatial resolution with which TMS can differentially stimulate cortical regions. In the motor domain, TMS can differentiate between cortical muscle representations of adjacent fingers. However, this high degree of spatial specificity cannot be obtained in all cortical regions due to the influences of cortical folding patterns on the TMS-induced electric field. The region-dependent focality of TMS should be assessed a priori to estimate the experimental feasibility. Post-hoc simulations allow modeling of the relationship between cortical stimulation exposure and behavioral modulation by integrating data across stimulation sites or subjects.

Abstract

Memorializes Martin D. S. Braine, whose research on child language acquisition and on both child and adult thinking and reasoning had a major influence on modern cognitive psychology. Addressing meaning as well as position, Braine argued that children start acquiring language by learning narrow-scope positional formulas that map components of meaning to positions in the utterance. These proposals were critical in starting discussions of the possible universality of the pivot-grammar stage and of the role of syntax, semantics,and pragmatics in children's early grammar and were pivotal to the rise of approaches in which cognitive development in language acquisition is stressed.

Abstract

We completed fine mapping of nine positional candidate regions for attention-deficit/hyperactivity disorder (ADHD) in an extended population sample of 308 affected sibling pairs (ASPs), constituting the largest linkage sample of families with ADHD published to date. The candidate chromosomal regions were selected from all three published genomewide scans for ADHD, and fine mapping was done to comprehensively validate these positional candidate regions in our sample. Multipoint maximum LOD score (MLS) analysis yielded significant evidence of linkage on 6q12 (MLS 3.30; empiric P=.024) and 17p11 (MLS 3.63; empiric P=.015), as well as suggestive evidence on 5p13 (MLS 2.55; empiric P=.091). In conjunction with the previously reported significant linkage on the basis of fine mapping 16p13 in the same sample as this report, the analyses presented here indicate that four chromosomal regions—5p13, 6q12, 16p13, and 17p11—are likely to harbor susceptibility genes for ADHD. The refinement of linkage within each of these regions lays the foundation for subsequent investigations using association methods to detect risk genes of moderate effect size.

Abstract

Mice display a wide repertoire of vocalizations that varies with sex, strain, and context. Especially during social interaction, including sexually motivated dyadic interaction, mice emit sequences of ultrasonic vocalizations (USVs) of high complexity. As animals of both sexes vocalize, a reliable attribution of USVs to their emitter is essential. The state-of-the-art in sound localization for USVs in 2D allows spatial localization at a resolution of multiple centimeters. However, animals interact at closer ranges, e.g. snout-to-snout. Hence, improved algorithms are required to reliably assign USVs. We present a novel algorithm, SLIM (Sound Localization via Intersecting Manifolds), that achieves a 2–3-fold improvement in accuracy (13.1–14.3 mm) using only 4 microphones and extends to many microphones and localization in 3D. This accuracy allows reliable assignment of 84.3% of all USVs in our dataset. We apply SLIM to courtship interactions between adult C57Bl/6J wildtype mice and those carrying a heterozygous Foxp2 variant (R552H). The improved spatial accuracy reveals that vocalization behavior is dependent on the spatial relation between the interacting mice. Female mice vocalized more in close snout-to-snout interaction while male mice vocalized more when the male snout was in close proximity to the female's ano-genital region. Further, we find that the acoustic properties of the ultrasonic vocalizations (duration, Wiener Entropy, and sound level) are dependent on the spatial relation between the interacting mice as well as on the genotype. In conclusion, the improved attribution of vocalizations to their emitters provides a foundation for better understanding social vocal behaviors.

Abstract

Four experiments examined segmentation of spoken Japanese words by native and non-native listeners. Previous studies suggested that language rhythm determines the segmentation unit most natural to native listeners: French has syllabic rhythm, and French listeners use the syllable in segmentation, while English has stress rhythm, and segmentation by English listeners is based on stress. The rhythm of Japanese is based on a subsyllabic unit, the mora. In the present experiments Japanese listeners′ response patterns were consistent with moraic segmentation; acoustic artifacts could not have determined the results since nonnative (English and French) listeners showed different response patterns with the same materials. Predictions of a syllabic hypothesis were disconfirmed in the Japanese listeners′ results; in contrast, French listeners showed a pattern of responses consistent with the syllabic hypothesis. The results provide further evidence that listeners′ segmentation of spoken words relies on procedures determined by the characteristic phonology of their native language.

Abstract

Gestures help speakers and listeners during communication and thinking, particularly for visual-spatial information. Speakers tend to use gestures to complement the accompanying spoken deictic constructions, such as demonstratives, when communicating spatial information (e.g., saying “The candle is here” and gesturing to the right side to express that the candle is on the speaker's right). Visual information conveyed by gestures enhances listeners’ comprehension. Whether and how listeners allocate overt visual attention to gestures in different speech contexts is mostly unknown. We asked if (a) listeners gazed at gestures more when they complement demonstratives in speech (“here”) compared to when they express redundant information to speech (e.g., “right”) and (b) gazing at gestures related to listeners’ information uptake from those gestures. We demonstrated that listeners fixated gestures more when they expressed complementary than redundant information in the accompanying speech. Moreover, overt visual attention to gestures did not predict listeners’ comprehension. These results suggest that the heightened communicative value of gestures as signaled by external cues, such as demonstratives, guides listeners’ visual attention to gestures. However, overt visual attention does not seem to be necessary to extract the cued information from the multimodal message.

Abstract

Evaluation plays a role in the telling and understanding of narratives, in communicative interaction, emotional understanding, and in psychological well-being. This article reports a study of evaluation by describing how readers monitor the concerns of characters over the course of a narrative. The main hypothesis is that readers tract the well-being via the expression of a character's internal states. Reader evaluations were revealed in think aloud protocols obtained during reading of narrative texts, one sentence at a time. Five kinds of evaluative inferences were found: appraisals (good versus bad), preferences (like versus don't like), emotions (happy versus frustrated), goals (want versus don't want), or purposes (to attain or maintain X versus to prevent or avoid X). Readers evaluated all sentences. The mean rate of evaluation per sentence was 0.55. Positive and negative evaluations over the course of the story indicated that things initially went badly for characters, improved with the formulation and execution of goal plans, declined with goal failure, and improved as characters formulated new goals and succeeded. The kind of evaluation made depended upon the episodic category of the event and the event's temporal location in the story. Evaluations also served to explain or predict events. In making evaluations, readers stayed within the frame of the story and perspectives of the character or narrator. They also moved out of the narrative frame and addressed evaluations towards the experimenter in a communicative context.

Abstract

Aberrant anatomical brain connections in attention-deficit/hyperactivity disorder (ADHD) are reported inconsistently across
diffusion weighted imaging (DWI) studies. Based on a pre-registered protocol (Prospero: CRD42021259192), we searched PubMed,
Ovid, and Web of Knowledge until 26/03/2022 to conduct a systematic review of DWI studies. We performed a quality assessment
based on imaging acquisition, preprocessing, and analysis. Using signed differential mapping, we meta-analyzed a subset of the
retrieved studies amenable to quantitative evidence synthesis, i.e., tract-based spatial statistics (TBSS) studies, in individuals of any
age and, separately, in children, adults, and high-quality datasets. Finally, we conducted meta-regressions to test the effect of age,
sex, and medication-naïvety. We included 129 studies (6739 ADHD participants and 6476 controls), of which 25 TBSS studies
provided peak coordinates for case-control differences in fractional anisotropy (FA)(32 datasets) and 18 in mean diffusivity (MD)(23
datasets). The systematic review highlighted white matter alterations (especially reduced FA) in projection, commissural and
association pathways of individuals with ADHD, which were associated with symptom severity and cognitive deficits. The meta-
analysis showed a consistent reduced FA in the splenium and body of the corpus callosum, extending to the cingulum. Lower FA
was related to older age, and case-control differences did not survive in the pediatric meta-analysis. About 68% of studies were of
low quality, mainly due to acquisitions with non-isotropic voxels or lack of motion correction; and the sensitivity analysis in high-
quality datasets yielded no significant results. Findings suggest prominent alterations in posterior interhemispheric connections
subserving cognitive and motor functions affected in ADHD, although these might be influenced by non-optimal acquisition
parameters/preprocessing. Absence of findings in children may be related to the late development of callosal fibers, which may
enhance case-control differences in adulthood. Clinicodemographic and methodological differences were major barriers to
consistency and comparability among studies, and should be addressed in future investigations.

Abstract

For a single species, human kinship organization is both remarkably diverse and strikingly organized. Kinship terminology is the structured vocabulary used to classify, refer to, and address relatives and family. Diversity in kinship terminology has been analyzed by anthropologists for over 150 years, although recurrent patterning across cultures remains incompletely explained. Despite the wealth of kinship data in the anthropological record, comparative studies of kinship terminology are hindered by data accessibility. Here we present Kinbank, a new database of 210,903 kinterms from a global sample of 1,229 spoken languages. Using open-access and transparent data provenance, Kinbank offers an extensible resource for kinship terminology, enabling researchers to explore the rich diversity of human family organization and to test longstanding hypotheses about the origins and drivers of recurrent patterns. We illustrate our contribution with two examples. We demonstrate strong gender bias in the phonological structure of parent terms across 1,022 languages, and we show that there is no evidence for a coevolutionary relationship between cross-cousin marriage and bifurcate-merging terminology in Bantu languages. Analysing kinship data is notoriously challenging; Kinbank aims to eliminate data accessibility issues from that challenge and provide a platform to build an interdisciplinary understanding of kinship.

Abstract

Horizontal transfer of transposable elements (TEs) is an important mechanism contributing to genetic diversity and innovation. Bats (order Chiroptera) have repeatedly been shown to experience horizontal transfer of TEs at what appears to be a high rate compared with other mammals. We investigated the occurrence of horizontally transferred (HT) DNA transposons involving bats. We found over 200 putative HT elements within bats; 16 transposons were shared across distantly related mammalian clades, and 2 other elements were shared with a fish and two lizard species. Our results indicate that bats are a hotspot for horizontal transfer of DNA transposons. These events broadly coincide with the diversification of several bat clades, supporting the hypothesis that DNA transposon invasions have contributed to genetic diversification of bats.

Abstract

Background

Autistic people show diverse trajectories of autistic traits over time, a phenomenon labelled ‘chronogeneity’. For example, some show a decrease in symptoms, whilst others experience an intensification of difficulties. Autism spectrum disorder (ASD) is a dimensional condition, representing one end of a trait continuum that extends throughout the population. To date, no studies have investigated chronogeneity across the full range of autistic traits. We investigated the nature and clinical significance of autism trait chronogeneity in a large, general population sample.
Methods

Autistic social/communication traits (ASTs) were measured in the Avon Longitudinal Study of Parents and Children using the Social and Communication Disorders Checklist (SCDC) at ages 7, 10, 13 and 16 (N = 9744). We used Growth Mixture Modelling (GMM) to identify groups defined by their AST trajectories. Measures of ASD diagnosis, sex, IQ and mental health (internalising and externalising) were used to investigate external validity of the derived trajectory groups.
Results

The selected GMM model identified four AST trajectory groups: (i) Persistent High (2.3% of sample), (ii) Persistent Low (83.5%), (iii) Increasing (7.3%) and (iv) Decreasing (6.9%) trajectories. The Increasing group, in which females were a slight majority (53.2%), showed dramatic increases in SCDC scores during adolescence, accompanied by escalating internalising and externalising difficulties. Two-thirds (63.6%) of the Decreasing group were male.
Conclusions

Clinicians should note that for some young people autism-trait-like social difficulties first emerge during adolescence accompanied by problems with mood, anxiety, conduct and attention. A converse, majority-male group shows decreasing social difficulties during adolescence.

Abstract

Understanding the role of the medial temporal lobe (MTL) in learning and memory is an important problem in cognitive neuroscience. Memory and learning processes that depend on the function of the MTL and related diencephalic structures (e.g., the anterior and mediodorsal thalamic nuclei) are defined as declarative. We have studied the MTL activity as indicated by regional cerebral blood flow with positron emission tomography and statistical parametric mapping during recall of abstract designs in a less practiced memory state as well as in a well-practiced (well-encoded) memory state. The results showed an increased activity of the MTL bilaterally (including parahippocampal gyrus extending into hippocampus proper, as well as anterior lingual and anterior fusiform gyri) during retrieval in the less practiced memory state compared to the well-practiced memory state, indicating a dynamic role of the MTL in retrieval during the learning processes. The results also showed that the activation of the MTL decreases as the subjects learn to draw abstract designs from memory, indicating a changing role of the MTL during recall in the earlier stages of acquisition compared to the well-encoded declarative memory state.

Abstract

In the present study, using event-related functional magnetic resonance imaging, we investigated a group of participants on a grammaticality classification task after they had been exposed to well-formed consonant strings generated from an artificial regular grammar.We used an implicit acquisition paradigm in which the participants were exposed to positive examples. The objective of this studywas to investigate whether brain regions related to language processing overlap with the brain regions activated by the grammaticality classification task used in the present study. Recent meta-analyses of functional neuroimaging studies indicate that syntactic processing is related to the left inferior frontal gyrus (Brodmann's areas 44 and 45) or Broca's region. In the present study, we observed that artificial grammaticality violations activated Broca's region in all participants. This observation lends some support to the suggestions that artificial grammar learning represents a model for investigating aspects of language learning in infants.

Abstract

The autonomic responses to acute pain exposure usually habituate rapidly while the subjective ratings of pain remain high for more extended periods of time. Thus, systems involved in the autonomic response to painful stimulation, for example the hypothalamus and the brainstem, would be expected to attenuate the response to pain during prolonged stimulation. This suggestion is in line with the hypothesis that the brainstem is specifically involved in the initial response to pain. To probe this hypothesis, we performed a positron emission tomography (PET) study where we scanned subjects during the first and second minute of a prolonged tonic painful cold stimulation (cold pressor test) and nonpainful cold stimulation. Galvanic skin response (GSR) was recorded during the PET scanning as an index of autonomic sympathetic response. In the main effect of pain, we observed increased activity in the thalamus bilaterally, in the contralateral insula and in the contralateral anterior cingulate cortex but no significant increases in activity in the primary or secondary somatosensory cortex. The autonomic response (GSR) decreased with stimulus duration. Concomitant with the autonomic response, increased activity was observed in brainstem and hypothalamus areas during the initial vs. the late stimulation. This effect was significantly stronger for the painful than for the cold stimulation. Activity in the brainstem showed pain-specific covariation with areas involved in pain processing, indicating an interaction between the brainstem and cortical pain networks. The findings indicate that areas in the brainstem are involved in the initial response to noxious stimulation, which is also characterized by an increased sympathetic response.

Abstract

The amygdala has been implicated in fundamental functions for the survival of the organism, such as fear and pain. In accord with this, several studies have shown increased amygdala activity during fear conditioning and the processing of fear-relevant material in human subjects. In contrast, functional neuroimaging studies of pain have shown a decreased amygdala activity. It has previously been proposed that the observed deactivations of the amygdala in these studies indicate a cognitive strategy to adapt to a distressful but in the experimental setting unavoidable painful event. In this positron emission tomography study, we show that a simple contextual manipulation, immediately preceding a painful stimulation, that increases the anticipated duration of the painful event leads to a decrease in amygdala activity and modulates the autonomic response during the noxious stimulation. On a behavioral level, 7 of the 10 subjects reported that they used coping strategies more intensely in this context. We suggest that the altered activity in the amygdala may be part of a mechanism to attenuate pain-related stress responses in a context that is perceived as being more aversive. The study also showed an increased activity in the rostral part of anterior cingulate cortex in the same context in which the amygdala activity decreased, further supporting the idea that this part of the cingulate cortex is involved in the modulation of emotional and pain networks

Abstract

Lesion-symptom mapping (LSM) studies have revealed brain areas critical for naming, typically finding significant associations between damage to left temporal, inferior parietal, and inferior fontal regions and impoverished naming performance. However, specific subregions found in the available literature vary. Hence, the aim of this study was to perform a systematic review and meta-analysis of published lesion-based findings, obtained from studies with unique cohorts investigating brain areas critical for accuracy in naming in stroke patients at least 1 month post-onset. An anatomic likelihood estimation (ALE) meta-analysis of these LSM studies was performed. Ten papers entered the ALE meta-analysis, with similar lesion coverage over left temporal and left inferior frontal areas. This small number is a major limitation of the present study. Clusters were found in left anterior temporal lobe, posterior temporal lobe extending into inferior parietal areas, in line with the arcuate fasciculus, and in pre- and postcentral gyri and middle frontal gyrus. No clusters were found in left inferior frontal gyrus. These results were further substantiated by examining five naming studies that investigated performance beyond global accuracy, corroborating the ALE meta-analysis results. The present review and meta-analysis highlight the involvement of left temporal and inferior parietal cortices in naming, and of mid to posterior portions of the temporal lobe in particular in conceptual-lexical retrieval for speaking.

Abstract

In this study data from the first six months of 12 children s multiword speech were used to test the validity of Valian's (1991) syntactic perfor-mance-limitation account and Tomasello s (1992) verb-island account of early multiword speech with particular reference to the development of the English verb category. The results provide evidence for appropriate use of verb morphology, auxiliary verb structures, pronoun case marking, and SVO word order from quite early in development. However, they also demonstrate a great deal of lexical specificity in the children's use of these systems, evidenced by a lack of overlap in the verbs to which different morphological markers were applied, a lack of overlap in the verbs with which different auxiliary verbs were used, a disproportionate use of the first person singular nominative pronoun I, and a lack of overlap in the lexical items that served as the subjects and direct objects of transitive verbs. These findings raise problems for both a syntactic performance-limitation account and a strong verb-island account of the data and suggest the need to develop a more general lexiealist account of early multiword speech that explains why some words come to function as "islands" of organization in the child's grammar and others do not.

Abstract

In this study we test a number of different claims about the nature of stylistic variation at the “single-word” stage by examining the relation between variation in early vocabulary composition, variation in early language use, and variation in the structural and functional propreties of mothers' child-directed speech. Maternal-report and observational data were collected for 26 children at 10, 50, and 100 words, These were then correlated with a variety of different measures of maternal speech at 10 words, The results show substantial variation in the percentage of common nouns and unanalyzed phrases in children's vocabularies, and singficant relations between this variation and the way in which language is used by the child. They also reveal singficant relations between the way in whch mothers use language at 10 words and the way in chich their children use language at 50 words and between certain formal properties of mothers speech at 10 words and the percentage of common nouns and unanalyzed phrases in children's early vocabularies, However, most of these relations desappear when an attempt is made to control for ossible effects of the child on the mother at Time 1. The exception is a singficant negative correlation between mothers tendency to produce speech that illustrates word boundaries and the percentage of unanalyzed phrases at 50 and 100 words. This suggests that mothers whose sprech provides the child with information about where new words begin and end tend to have children with few unanalyzed. phrases in their early vocabularies.

Abstract

Neuron models with explicit dendritic dynamics have shed light on mechanisms for coincidence detection, pathway selection and temporal filtering. However, it is still unclear which morphological and physiological features are required to capture these phenomena. In this work, we introduce the Tripod neuron model and propose a minimal structural reduction of the dendritic tree that is able to reproduce these computations. The Tripod is a three-compartment model consisting of two segregated passive dendrites and a somatic compartment modelled as an adaptive, exponential integrate-and-fire neuron. It incorporates dendritic geometry, membrane physiology and receptor dynamics as measured in human pyramidal cells. We characterize the response of the Tripod to glutamatergic and GABAergic inputs and identify parameters that support supra-linear integration, coincidence-detection and pathway-specific gating through shunting inhibition. Following NMDA spikes, the Tripod neuron generates plateau potentials whose duration depends on the dendritic length and the strength of synaptic input. When fitted with distal compartments, the Tripod encodes previous activity into a dendritic depolarized state. This dendritic memory allows the neuron to perform temporal binding, and we show that it solves transition and sequence detection tasks on which a single-compartment model fails. Thus, the Tripod can account for dendritic computations previously explained only with more detailed neuron models or neural networks. Due to its simplicity, the Tripod neuron can be used efficiently in simulations of larger cortical circuits.

Abstract

Human communication involves the process of translating intentions into communicative actions. But how exactly do our intentions surface in the visible communicative behavior we display? Here we focus on pointing gestures, a fundamental building block of everyday communication, and investigate whether and how different types of underlying intent modulate the kinematics of the pointing hand and the brain activity preceding the gestural movement. In a dynamic virtual reality environment, participants pointed at a referent to either share attention with their addressee, inform their addressee, or get their addressee to perform an action. Behaviorally, it was observed that these different underlying intentions modulated how long participants kept their arm and finger still, both prior to starting the movement and when keeping their pointing hand in apex position. In early planning stages, a neurophysiological distinction was observed between a gesture that is used to share attitudes and knowledge with another person versus a gesture that mainly uses that person as a means to perform an action. Together, these findings suggest that our intentions influence our actions from the earliest neurophysiological planning stages to the kinematic endpoint of the movement itself.

Abstract

How did rhythm originate in humans, and other species? One cross-cultural universal, frequently found in human music, is isochrony: when note onsets repeat regularly like the ticking of a clock. Another universal consists in synchrony (e.g. when individuals coordinate their notes so that they are sung at the same time). An approach to biomusicology focuses on similarities and differences across species, trying to build phylogenies of musical traits. Here we test for the presence of, and a link between, isochrony and synchrony in a non-human animal. We focus on the songs of one of the few singing primates, the lar gibbon (Hylobates lar), extracting temporal features from their solo songs and duets. We show that another ape exhibits one rhythmic feature at the core of human musicality: isochrony. We show that an enhanced call rate overall boosts isochrony, suggesting that respiratory physiological constraints play a role in determining the song's rhythmic structure. However, call rate alone cannot explain the flexible isochrony we witness. Isochrony is plastic and modulated depending on the context of emission: gibbons are more isochronous when duetting than singing solo. We present evidence for rhythmic interaction: we find statistical causality between one individual's note onsets and the co-singer's onsets, and a higher than chance degree of synchrony in the duets. Finally, we find a sex-specific trade-off between individual isochrony and synchrony. Gibbon's plasticity for isochrony and rhythmic overlap may suggest a potential shared selective pressure for interactive vocal displays in singing primates. This pressure may have convergently shaped human and gibbon musicality while acting on a common neural primate substrate. Beyond humans, singing primates are promising models to understand how music and, specifically, a sense of rhythm originated in the primate phylogeny.

Abstract

What is language and who or what can be said to have it? In this essay we consider this question in the context of interactions with non-humans, specifically: animals and computers. While perhaps an odd pairing at first glance, here we argue that these domains can offer contrasting perspectives through which we can explore and reimagine language. The interactions between humans and animals, as well as between humans and computers, reveal both the essence and the boundaries of language: from examining the role of sequence and contingency in human-animal interaction, to unravelling the challenges of natural interactions with “smart” speakers and language models. By bringing together disparate fields around foundational questions, we push the boundaries of linguistic inquiry and uncover new insights into what language is and how it functions in diverse non-humanexclusive contexts.

Abstract

Purpose

To perform a scoping review to investigate the psychosocial impact of having an altered facial expression in five neurological diseases.
Methods

A systematic literature search was performed. Studies were on Bell’s palsy, facioscapulohumeral muscular dystrophy (FSHD), Moebius syndrome, myotonic dystrophy type 1, or Parkinson’s disease patients; had a focus on altered facial expression; and had any form of psychosocial outcome measure. Data extraction focused on psychosocial outcomes.
Results

Bell’s palsy, myotonic dystrophy type 1, and Parkinson’s disease patients more often experienced some degree of psychosocial distress than healthy controls. In FSHD, facial weakness negatively influenced communication and was experienced as a burden. The psychosocial distress applied especially to women (Bell’s palsy and Parkinson’s disease), and patients with more severely altered facial expression (Bell’s palsy), but not for Moebius syndrome patients. Furthermore, Parkinson’s disease patients with more pronounced hypomimia were perceived more negatively by observers. Various strategies were reported to compensate for altered facial expression.
Conclusions

This review showed that patients with altered facial expression in four of five included neurological diseases had reduced psychosocial functioning. Future research recommendations include studies on observers’ judgements of patients during social interactions and on the effectiveness of compensation strategies in enhancing psychosocial functioning.
Implications for rehabilitation

Negative effects of altered facial expression on psychosocial functioning are common and more abundant in women and in more severely affected patients with various neurological disorders.

Health care professionals should be alert to psychosocial distress in patients with altered facial expression.

Learning of compensatory strategies could be a beneficial therapy for patients with psychosocial distress due to an altered facial expression.

Abstract

Humans are unique in their sophisticated culture and societal structures, their complex languages, and their extensive tool use. According to the human self-domestication hypothesis, this unique set of traits may be the result of an evolutionary process of self-induced domestication, in which humans evolved to be less aggressive and more cooperative. However, the only other species that has been argued to be self-domesticated besides humans so far is bonobos, resulting in a narrow scope for investigating this theory limited to the primate order. Here, we propose an animal model for studying self-domestication: the elephant. First, we support our hypothesis with an extensive cross-species comparison, which suggests that elephants indeed exhibit many of the features associated with self-domestication (e.g., reduced aggression, increased prosociality, extended juvenile period, increased playfulness, socially regulated cortisol levels, and complex vocal behavior). Next, we present genetic evidence to reinforce our proposal, showing that genes positively selected in elephants are enriched in pathways associated with domestication traits and include several candidate genes previously associated with domestication. We also discuss several explanations for what may have triggered a self-domestication process in the elephant lineage. Our findings support the idea that elephants, like humans and bonobos, may be self-domesticated. Since the most recent common ancestor of humans and elephants is likely the most recent common ancestor of all placental mammals, our findings have important implications for convergent evolution beyond the primate taxa, and constitute an important advance toward understanding how and why self-domestication shaped humans’ unique cultural niche.

Abstract

This paper discusses some pitfalls in corpus research and suggests solutions on the basis of examples and computer simulations. We first address reliability problems in language transcriptions, agreement between transcribers, and how disagreements can be dealt with. We then show that the frequencies of occurrence obtained from a corpus cannot always be analyzed with the traditional X2 test, as corpus data are often not sequentially independent and unit independent. Next, we stress the relevance of the power of statistical tests, and the sizes of statistically significant effects. Finally, we point out that a t-test based on log odds often provides a better alternative to a X2 analysis based on frequency counts.

Abstract

Cortical asymmetry is a ubiquitous feature of brain organization that is altered in neurodevelopmental disorders and aging. Achieving consensus on cortical asymmetries in humans is necessary to uncover the genetic-developmental mechanisms that shape them and factors moderating cortical lateralization. Here, we delineate population-level asymmetry in cortical thickness and surface area vertex-wise in 7 datasets and chart asymmetry trajectories across life (4-89 years; observations = 3937; 70% longitudinal). We reveal asymmetry interrelationships, heritability, and test associations in UK Biobank (N=∼37,500). Cortical asymmetry was robust across datasets. Whereas areal asymmetry is predominantly stable across life, thickness asymmetry grows in development and declines in aging. Areal asymmetry correlates in specific regions, whereas thickness asymmetry is globally interrelated across cortex and suggests high directional variability in global thickness lateralization. Areal asymmetry is moderately heritable (max h2SNP ∼19%), and phenotypic correlations are reflected by high genetic correlations, whereas heritability of thickness asymmetry is low. Finally, we detected an asymmetry association with cognition and confirm recently-reported handedness links. Results suggest areal asymmetry is developmentally stable and arises in early life, whereas developmental changes in thickness asymmetry may lead to directional variability of global thickness lateralization. Our results bear enough reproducibility to serve as a standard for future brain asymmetry studies.

Abstract

There is a remarkable lack of research bringing together the literatures on oral reading and speaking.
As concerns phonological encoding, both models of reading and speaking assume a process of segmental
spellout for words, which is followed by serial prosodification in models of speaking (e.g., Levelt,
Roelofs, & Meyer, 1999). Thus, a natural place to merge models of reading and speaking would be
at the level of segmental spellout. This view predicts similar seriality effects in reading and object naming.
Experiment 1 showed that the seriality of encoding inside a syllable revealed in previous studies
of speaking is observed for both naming objects and reading their names. Experiment 2 showed that
both object naming and reading exhibit the seriality of the encoding of successive syllables previously
observed for speaking. Experiment 3 showed that the seriality is also observed when object naming and
reading trials are mixed rather than tested separately, as in the first two experiments. These results suggest
that a serial phonological encoding mechanism is shared between naming objects and reading
their names.

Abstract

In a recent series of papers, Caramazza and Miozzo [Caramazza, A., 1997. How many levels of processing are there in lexical access? Cognitive Neuropsychology 14, 177-208; Caramazza, A., Miozzo, M., 1997. The relation between syntactic and phonological knowledge in lexical access: evidence from the 'tip-of-the-tongue' phenomenon. Cognition 64, 309-343; Miozzo, M., Caramazza, A., 1997. On knowing the auxiliary of a verb that cannot be named: evidence for the independence of grammatical and phonological aspects of lexical knowledge. Journal of Cognitive Neuropsychology 9, 160-166] argued against the lemma/lexeme distinction made in many models of lexical access in speaking, including our network model [Roelofs, A., 1992. A spreading-activation theory of lemma retrieval in speaking. Cognition 42, 107-142; Levelt, W.J.M., Roelofs, A., Meyer, A.S., 1998. A theory of lexical access in speech production. Behavioral and Brain Sciences, (in press)]. Their case was based on the observations that grammatical class deficits of brain-damaged patients and semantic errors may be restricted to either spoken or written forms and that the grammatical gender of a word and information about its form can be independently available in tip-of-the-tongue stales (TOTs). In this paper, we argue that though our model is about speaking, not taking position on writing, extensions to writing are possible that are compatible with the evidence from aphasia and speech errors. Furthermore, our model does not predict a dependency between gender and form retrieval in TOTs. Finally, we argue that Caramazza and Miozzo have not accounted for important parts of the evidence motivating the lemma/lexeme distinction, such as word frequency effects in homophone production, the strict ordering of gender and pho neme access in LRP data, and the chronometric and speech error evidence for the production of complex morphology.

Abstract

B. Rapp and M. Goldrick (2000) claimed that the lexical and mixed error biases in picture naming by
aphasic and nonaphasic speakers argue against models that assume a feedforward-only relationship
between lexical items and their sounds in spoken word production. The author contests this claim by
showing that a feedforward-only model like WEAVER ++ (W. J. M. Levelt, A. Roelofs, & A. S. Meyer,
1999b) exhibits the error biases in word planning and self-monitoring. Furthermore, it is argued that
extant feedback accounts of the error biases and relevant chronometric effects are incompatible.
WEAVER ++ simulations with self-monitoring revealed that this model accounts for the chronometric
data, the error biases, and the influence of the impairment locus in aphasic speakers.

Abstract

WEAVER++ has no backward links in its form-production network and yet is able to explain the lexical
and mixed error biases and the mixed distractor latency effect. This refutes the claim of B. Rapp and M.
Goldrick (2000) that these findings specifically support production-internal feedback. Whether their restricted interaction account model can also provide a unified account of the error biases and latency effect remains to be shown.

Abstract

According to most models of speech production, the planning of spoken words involves the independent retrieval of segments and metrical frames followed by segment-to-frame association. In some models, the metrical frame includes a specification of the number and ordering of consonants and vowels, but in the word-form encoding by activation and verification (WEAVER) model (A. Roelofs, 1997), the frame specifies only the stress pattern across syllables. In 6 implicit priming experiments, on each trial, participants produced 1 word out of a small set as quickly as possible. In homogeneous sets, the response words shared word-initial segments, whereas in heterogeneous sets, they did not. Priming effects from shared segments depended on all response words having the same number of syllables and stress pattern, but not on their having the same number of consonants and vowels. No priming occurred when the response words had only the same metrical frame but shared no segments. Computer simulations demonstrated that WEAVER accounts for the findings.

Abstract

This article reports 7 experiments investigating whether utterances are planned in a parallel or rightward incremental fashion during language production. The experiments examined the role of linear order, length, frequency, and repetition in producing Dutch verb–particle combinations. On each trial, participants produced 1 utterance out of a set of 3 as quickly as possible. The responses shared part of their form or not. For particle-initial infinitives, facilitation was obtained when the responses shared the particle but not when they shared the verb. For verb-initial imperatives, however, facilitation was obtained for the verbs but not for the particles. The facilitation increased with length, decreased with frequency, and was independent of repetition. A simple rightward incremental model accounts quantitatively for the results.

Abstract

Lexical access in speaking consists of two major steps: lemma retrieval and word-form encoding. In Roelofs (Roelofs, A. 1992a. Cognition 42. 107-142; Roelofs. A. 1993. Cognition 47, 59-87.), I described a model of lemma retrieval. The present paper extends this work by presenting a comprehensive model of the second access step, word-form encoding. The model is called WEAVER (Word-form Encoding by Activation and VERification). Unlike other models of word-form generation, WEAVER is able to provide accounts of response time data, particularly from the picture-word interference paradigm and the implicit priming paradigm. Its key features are (1) retrieval by spreading activation, (2) verification of activated information by a production rule, (3) a rightward incremental construction of phonological representations using a principle of active syllabification, syllables are constructed on the fly rather than stored with lexical items, (4) active competitive selection of syllabic motor programs using a mathematical formalism that generates response times and (5) the association of phonological speech errors with the selection of syllabic motor programs due to the failure of verification.

Abstract

The study of the brains’ oscillatory activity has been a standard technique to gain insights into human neurocognition for a relatively long time. However, as a complementary analysis to ERPs, only very recently has it been utilized to study bilingualism and its neural underpinnings. Here, we provide a theoretical and methodological starter for scientists in the (psycho)linguistics and neurocognition of bilingualism field(s) to understand the bases and applications of this analytical tool. Towards this goal, we provide a description of the characteristics of the human neural (and its oscillatory) signal, followed by an in-depth description of various types of EEG oscillatory analyses, supplemented by figures and relevant examples. We then utilize the scant, yet emergent, literature on neural oscillations and bilingualism to highlight the potential of how analyzing neural oscillations can advance our understanding of the (psycho)linguistic and neurocognitive understanding of bilingualism.

Abstract

Prosociality and cooperation are key to what makes us human. But different cultural norms can shape our evolved capacities for interaction, leading to differences in social relations. How people share resources has been found to vary across cultures, particularly when stakes are high and when interactions are anonymous. Here we examine prosocial behavior among familiars (both kin and non-kin) in eight cultures on five continents, using video recordings of spontaneous requests for immediate, low-cost assistance (e.g., to pass a utensil). We find that, at the smallest scale of human interaction, prosocial behavior follows cross-culturally shared principles: requests for assistance are very frequent and mostly successful; and when people decline to give help, they normally give a reason. Although there are differences in the rates at which such requests are ignored, or require verbal acceptance, cultural variation is limited, pointing to a common foundation for everyday cooperation around the world.

Abstract

The past few years have seen a surge of interest in using machine learning (ML) methods for studying the behavior of nonhuman animals (hereafter “animals”) (1). A topic that has attracted particular attention is the decoding of animal communication systems using deep learning and other approaches (2). Now is the time to tackle challenges concerning data availability, model validation, and research ethics, and to embrace opportunities for building collaborations across disciplines and initiatives.

Abstract

Prediction is often regarded as an integral aspect of incremental language comprehension, but little is known about the cognitive architectures and mechanisms that support it. We review studies showing that listeners and readers use all manner of contextual information to generate multifaceted predictions about upcoming input. The nature of these predictions may vary between individuals owing to differences in language experience, among other factors. We then turn to unresolved questions which may guide the search for the underlying mechanisms. (i) Is prediction essential to language processing or an optional strategy? (ii) Are predictions generated from within the language system or by domain-general processes? (iii) What is the relationship between prediction and memory? (iv) Does prediction in comprehension require simulation via the production system? We discuss promising directions for making progress in answering these questions and for developing a mechanistic understanding of prediction in language.

Abstract

Psycholinguistic theories propose different models of inflectional processing of regular and irregular verbs: dual mechanism models assume separate modules with lexical frequency sensitivity for irregular verbs. In contradistinction, connectionist models propose a unified process in a single module.We conducted a PET study using a 2 x 2 design with verb regularity and frequency.We found significantly shorter voice onset times for regular verbs and high frequency verbs irrespective of regularity. The PET data showed activations in inferior frontal gyrus (BA 45), nucleus lentiformis, thalamus, and superior medial cerebellum for both regular and irregular verbs but no dissociation for verb regularity.Our results support common processing components for regular and irregular verb inflection.

Abstract

Purpose: To determine the disease pathogenesis associated with the frequent ABCA4 variant c.5714+5G>A (p.[=,Glu1863Leufs*33]).

Methods: Patient-derived photoreceptor precursor cells were generated to analyze the effect of c.5714+5G>A on splicing and perform a quantitative analysis of c.5714+5G>A products. Patients with c.5714+5G>A in trans with a null allele (i.e., c.5714+5G>A patients; n = 7) were compared with patients with two null alleles (i.e., double null patients; n = 11); with a special attention to the degree of RPE atrophy (area of definitely decreased autofluorescence and the degree of photoreceptor impairment (outer nuclear layer thickness and pattern electroretinography amplitude).

Results: RT-PCR of mRNA from patient-derived photoreceptor precursor cells showed exon 40 and exon 39/40 deletion products, as well as the normal transcript. Quantification of products showed 52.4% normal and 47.6% mutant ABCA4 mRNA. Clinically, c.5714+5G>A patients displayed significantly better structural and functional preservation of photoreceptors (thicker outer nuclear layer, presence of tubulations, higher pattern electroretinography amplitude) than double null patients with similar degrees of RPE loss, whereas double null patients exhibited signs of extensive photoreceptor ,damage even in the areas with preserved RPE.

Conclusions: The prototypical STGD1 sequence of events of primary RPE and secondary photoreceptor damage is congruous with c.5714+5G>A, but not the double null genotype, which implies different and genotype-dependent disease mechanisms. We hypothesize that the relative photoreceptor sparing in c.5714+5G>A patients results from the remaining function of the ABCA4 transporter originating from the normally spliced product, possibly by decreasing the direct bisretinoid toxicity on photoreceptor membranes.

Abstract

Previous studies have demonstrated that context manipulations by semantic blocking and category priming can, under particular design conditions, give rise to semantic facilitation effects. The interpretation of semantic facilitation effects is controversial in the word production literature; perceptual accounts propose that contextually facilitated object recognition may underlie facilitation effects. The present study tested this notion. We investigated the difficulty of object recognition in a semantic blocking and a category priming task. We presented all pictures in gradually de-blurring image sequences and measured the de-blurring level that first allowed for correct object naming as an indicator of the perceptual demands of object recognition. Based on object recognition models assuming a temporal progression from coarse- to fine-grained visual processing, we reasoned that the lower the required level of detail, the more efficient the recognition processes. The results demonstrate that categorically related contexts reduce the level of visual detail required for object naming compared to unrelated contexts, with this effect being most pronounced for shape-distinctive objects and in contexts providing explicit category cues. We propose a top-down explanation based on target predictability of the observed effects. Implications of the recognition effects based on target predictability for the interpretation of context effects observed in latencies are discussed.

Abstract

How environmental factors shape patterns of biotic diversity in tropical ecosystems is an active field of research, but studies examining the possibility of ecological speciation in terrestrial tropical ecosystems are scarce. We use the isolated rainforest herpetofauna on the Montagne d'Ambre (Amber Mountain) massif in northern Madagascar as a model to explore elevational divergence at the level of populations and communities. Based on intensive sampling and DNA barcoding of amphibians and reptiles along a transect ranging from ca. 470–1470 m above sea level (a.s.l.), we assessed a main peak in species richness at an elevation of ca. 1000 m a.s.l. with 41 species. The proportion of local endemics was highest (about 1/3) at elevations >1100 m a.s.l. Two species of chameleons (Brookesia tuberculata, Calumma linotum) and two species of frogs (Mantidactylus bellyi, M. ambony) studied in depth by newly developed microsatellite markers showed genetic divergence up the slope of the mountain, some quite strong, others very weak, but in each case with genetic breaks between 1100 and 1270 m a.s.l. Genetic clusters were found in transect sections significantly differing in bioclimate and herpetological community composition. A decrease in body size was detected in several species with increasing elevation. The studied rainforest amphibians and reptiles show concordant population genetic differentiation across elevation along with morphological and niche differentiation. Whether this parapatric or microallopatric differentiation will suffice for the completion of speciation is, however, unclear, and available phylogeographic evidence rather suggests that a complex interplay between ecological and allopatric divergence processes is involved in generating the extraordinary species diversity of Madagascar's biota. Our study reveals concordant patterns of diversification among main elevational bands, but suggests that these adaptational processes are only part of the complex of processes leading to species formation, among which geographical isolation is probably also important.

Abstract

Left–right asymmetry is an important organizing feature of the healthy brain that may be altered in schizophrenia, but most studies have used relatively small samples and heterogeneous approaches, resulting in equivocal findings. We carried out the largest case–control study of structural brain asymmetries in schizophrenia, with MRI data from 5,080 affected individuals and 6,015 controls across 46 datasets, using a single image analysis protocol. Asymmetry indexes were calculated for global and regional cortical thickness, surface area, and subcortical volume measures. Differences of asymmetry were calculated between affected individuals and controls per dataset, and effect sizes were meta-analyzed across datasets. Small average case–control differences were observed for thickness asymmetries of the rostral anterior cingulate and the middle temporal gyrus, both driven by thinner left-hemispheric cortices in schizophrenia. Analyses of these asymmetries with respect to the use of antipsychotic medication and other clinical variables did not show any significant associations. Assessment of age- and sex-specific effects revealed a stronger average leftward asymmetry of pallidum volume between older cases and controls. Case–control differences in a multivariate context were assessed in a subset of the data (N = 2,029), which revealed that 7% of the variance across all structural asymmetries was explained by case–control status. Subtle case–control differences of brain macrostructural asymmetry may reflect differences at the molecular, cytoarchitectonic, or circuit levels that have functional relevance for the disorder. Reduced left middle temporal cortical thickness is consistent with altered left-hemisphere language network organization in schizophrenia.

Abstract

This study investigates whether or not the representation of lexical stress information can be primed during speech production. In four experiments, we attempted to prime the stress position of bisyllabic target nouns (picture names) having initial and final stress with auditory prime words having either the same or different stress as the target (e.g., WORtel–MOtor vs. koSTUUM–MOtor; capital letters indicate stressed syllables in prime–target pairs). Furthermore, half of the prime words were semantically related, the other half unrelated. Overall, picture names were not produced faster when the prime word had the same stress as the target than when the prime had different stress, i.e., there was no stress-priming effect in any experiment. This result would not be expected if stress were stored in the lexicon. However, targets with initial stress were responded to faster than final-stress targets. The reason for this effect was neither the quality of the pictures nor frequency of occurrence or voice-key characteristics. We hypothesize here that this stress effect is a genuine encoding effect, i.e., words with stress on the second syllable take longer to be encoded because their stress pattern is irregular with respect to the lexical distribution of bisyllabic stress patterns, even though it can be regular with respect to metrical stress rules in Dutch. The results of the experiments are discussed in the framework of models of phonological encoding.

Abstract

Any complete theory of speaking must take the dialogical function of language use into account. Pickering & Garrod (P&G) make some progress on this point. However, we question whether their interactive alignment model is the optimal approach. In this commentary, we specifically criticize (1) their notion of alignment being implemented through priming, and (2) their claim that self-monitoring can occur at all levels of linguistic representation.

Abstract

This study investigates whether or not masked form priming effects in the naming task depend on the number of shared segments between prime and target. Dutch participants named bisyllabic words, which were preceded by visual masked primes. When primes shared the initial segment(s) with the target, naming latencies were shorter than in a control condition (string of percent signs). Onset complexity (singleton vs. complex word onset) did not modulate this priming effect in Dutch. Furthermore, significant priming due to shared final segments was only found when the prime did not contain a mismatching onset, suggesting an interfering role of initial non-target segments. It is concluded that (a) degree of overlap (segmental match vs. mismatch), and (b) position of overlap (initial vs. final) influence the magnitude of the form priming effect in the naming task. A modification of the segmental overlap hypothesis (Schiller, 1998) is proposed to account for the data.

Abstract

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

Abstract

A series of experiments was carried out to investigate the syllable affiliation of intervocalic consonants following short vowels, long vowels, and schwa in Dutch. Special interest was paid to words such as letter ['leter] ''id.,'' where a short vowel is followed by a single consonant. On phonological grounds one may predict that the first syllable should always be closed, but earlier psycholinguistic research had shown that speakers tend to leave these syllables open. In our experiments, bisyllabic word forms were presented aurally, and participants produced their syllables in reversed order (Experiments 1 through 5), or repeated the words inserting a pause between the syllables (Experiment 6). The results showed that participants generally closed syllables with a short vowel. However, in a significant number of the cases they produced open short vowel syllables. Syllables containing schwa, like syllables with a long vowel, were hardly ever closed. Word stress, the phonetic quality of the vowel in the first syllable, and the experimental context influenced syllabification. Taken together, the experiments show that native speakers syllabify bisyllabic Dutch nouns in accordance with a small set of prosodic output constraints. To account for the variability of the results, we propose that these constraints differ in their probabilities of being applied.

Abstract

Gender assignment relates to a native speaker's knowledge of the structure of the gender system of his/her language, allowing the speaker to select the appropriate gender for each noun. Whereas categorical assignment rules and exceptional gender assignment are well investigated, assignment regularities, i.e., tendencies in the gender distribution identified within the vocabulary of a language, are still controversial. The present study is an empirical contribution trying to shed light on the gender assignment system native German speakers have at their disposal. Participants presented with a category (e.g., predator) and a pair of gender-marked pseudowords (e.g., der Trelle vs. die Stisse) preferentially selected the pseudo-word preceded by the gender-marked determiner ‘‘associated’’ with the category (e.g., masculine). This finding suggests that semantic regularities might be part of the gender assignment system of native speakers.

Abstract

Frequency tagging has been successfully used to investigate selective stimulus processing in electroencephalography (EEG) or magnetoencephalography (MEG) studies. Recently, new projectors have been developed that allow for frequency tagging at higher frequencies (>60 Hz). This technique, rapid invisible frequency tagging (RIFT), provides two crucial advantages over low-frequency tagging as (i) it leaves low-frequency oscillations unperturbed, and thus open for investigation, and ii) it can render the tagging invisible, resulting in more naturalistic paradigms and a lack of participant awareness. The development of this technique has far-reaching implications as oscillations involved in cognitive processes can be investigated, and potentially manipulated, in a more naturalistic manner.

Abstract

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

Abstract

A new sign language has been created by deaf Nicaraguans over the past 25 years, providing an opportunity to observe the inception of universal hallmarks of language. We found that in their initial creation of the language, children analyzed complex events into basic elements and sequenced these elements into hierarchically structured expressions according to principles not observed in gestures accompanying speech in the surrounding language. Successive cohorts of learners extended this procedure, transforming Nicaraguan signing from its early gestural form into a linguistic system. We propose that this early segmentation and recombination reflect mechanisms with which children learn, and thereby perpetuate, language. Thus, children naturally possess learning abilities capable of giving language its fundamental structure.

Abstract

When recognizing spoken words, listeners are confronted by variability in the speech signal caused by talker differences. Previous research has focused on segmental talker variability; less is known about how suprasegmental variability is handled. Here we investigated the use of perceptual learning to deal with between-talker differences in lexical stress. Two groups of participants heard Dutch minimal stress pairs (e.g., VOORnaam vs. voorNAAM, “first name” vs. “respectable”) spoken by two male talkers. Group 1 heard Talker 1 use only F0 to signal stress (intensity and duration values were ambiguous), while Talker 2 used only intensity (F0 and duration were ambiguous). Group 2 heard the reverse talker-cue mappings. After training, participants were tested on words from both talkers containing conflicting stress cues (“mixed items”; e.g., one spoken by Talker 1 with F0 signaling initial stress and intensity signaling final stress). We found that listeners used previously learned information about which talker used which cue to interpret the mixed items. For example, the mixed item described above tended to be interpreted as having initial stress by Group 1 but as having final stress by Group 2. This demonstrates that listeners learn how individual talkers signal stress and use that knowledge in spoken-word recognition.

Abstract

Frontal lobe organisation displays a functional gradient, with overarching processing goals located in parts anterior to more subordinate goals, processed more posteriorly. Functional specialisation for syntax and phonology within language relevant areas has been supported by meta-analyses and reviews, but never directly tested experimentally. We tested for organised functional specialisation by manipulating syntactic case and phonotactics, creating violations at the end of otherwise matched and predictable sentences. Both violations led to increased activation in expected language regions. We observe the clearest signs of a functional gradient for language processing in the medial frontal cortex, where syntactic violations activated a more anterior portion compared to the phonotactic violations. A large overlap of syntactic and phonotactic processing in the left inferior frontal gyrus (LIFG) supports the view that general structured sequence processes are located in this area. These findings are relevant for understanding how sentence processing is implemented in hierarchically organised processing steps in the frontal lobe.

Abstract

White matter tracts form the structural basis of large-scale brain networks. We applied brain-wide tractography to diffusion images from 30,810 adults (U.K. Biobank) and found significant heritability for 90 node-level and 851 edge-level network connectivity measures. Multivariate genome-wide association analyses identified 325 genetic loci, of which 80% had not been previously associated with brain metrics. Enrichment analyses implicated neurodevelopmental processes including neurogenesis, neural differentiation, neural migration, neural projection guidance, and axon development, as well as prenatal brain expression especially in stem cells, astrocytes, microglia, and neurons. The multivariate association profiles implicated 31 loci in connectivity between core regions of the left-hemisphere language network. Polygenic scores for psychiatric, neurological, and behavioral traits also showed significant multivariate associations with structural connectivity, each implicating distinct sets of brain regions with trait-relevant functional profiles. This large-scale mapping study revealed common genetic contributions to variation in the structural connectome of the human brain.

Abstract

Models of speech production disagree on whether or not homonyms have a shared word-form representation. To investigate this issue, a picture-naming experiment was carried out using Dutch homonyms of which both meanings could be presented as a picture. Naming latencies for the low-frequency meanings of homonyms were slower than for those of the high-frequency meanings. However, no frequency effect was found for control words, which matched the frequency of the homonyms meanings. Subsequent control experiments indicated that the difference in naming latencies for the homonyms could be attributed to processes earlier than wordform retrieval. Specifically, it appears that low name agreement slowed down the naming of the low-frequency homonym pictures.