Publications

Abstract

Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies. Non-right-handedness (NRH) frequency was assessed in N = 2503 cases with reading and/or language impairment and N = 4316 sex-matched controls identified from 10 distinct cohorts (age range 6–19 years old; European ethnicity) using a priori set criteria. A meta-analysis (Ncases = 1994) showed elevated NRH % in individuals with language/reading impairment compared with controls (OR = 1.21, CI = 1.06–1.39, p = .01). The association between reading/language impairments and NRH could result from shared pathways underlying brain lateralization, handedness, and cognitive functions.

Abstract

How do bilingual speakers represent the information that guides the assembly of words into sentences for their two languages? The shared-syntax account argues that bilinguals have a single, shared representation of the sentence structures that exist in both languages. Structural priming has been shown to be equal within and across languages, providing support for the shared-syntax account. However, equivalent levels of structural priming within and across languages could be observed even if structural representations are separate and connected, due to frequent switches between languages, which is a property of standard structural priming paradigms. Here, we investigated whether cumulative structural priming (i.e., structural priming across blocks rather than trial-by-trial), which does not involve frequent switches between languages, also shows equivalent levels of structural priming within- and cross-languages. Mixed results point towards a possibility that cumulative structural priming can be more persistent within- compared to cross-languages, suggesting a separate-and-connected account of bilingual structural representations. We discuss these results in terms of the current literature on bilingual structural representations and highlight the value of diversity in paradigms and less-studied languages.

Abstract

Knowing the sentence structures (i.e., information that guides the assembly of words into sentences) is crucial in language knowledge. This knowledge must be stable for successful communication, but when learning another language that uses different structures, speakers must adjust their structural knowledge. Here, we examine how newly acquired second language (L2) knowledge influences first language (L1) structure knowledge. We compared two groups of Korean speakers: Korean-immersed speakers living in Korea (with little English exposure) versus English-immersed speakers who acquired English late and were living in the US (with more English exposure). We used acceptability judgment and sentence production tasks on Korean sentences in English and Korean word orders. Results suggest that acceptability and structural usage in L1 change after exposure to L2, but not in a way that matches L2 structures. Instead, L2 exposure might lead to increased difficulties in the selection and retrieval of word orders while using L1.

Abstract

While there are well-known demonstrations that children can use distributional information to acquire multiple components of language, the underpinnings of these achievements are unclear. In the current paper, we investigate the potential pre-requisites for a distributional learning model that can explain how children learn their first words. We review existing literature and then present the results of a series of computational simulations with Vector Space Models, a type of distributional semantic model used in Computational Linguistics, which we evaluate against vocabulary acquisition data from children. We focus on nouns and verbs, and we find that: (i) a model with flexibility to adjust for the frequency of events provides a better fit to the human data, (ii) the influence of context words is very local, especially for nouns, and (iii) words that share more contexts with other words are harder to learn.

Abstract

Children's gestures can reveal important information about their problem-solving strategies. This study investigated whether the information children express only in gesture is accessible to adults not trained in gesture coding. Twenty teachers and 20 undergraduates viewed videotaped vignettes of 12 children explaining their solutions to equations. Six children expressed the same strategy in speech and gesture, and 6 expressed different strategies. After each vignette, adults described the child's reasoning. For children who expressed different strategies in speech and gesture, both teachers and undergraduates frequently described strategies that children had not expressed in speech. These additional strategies could often be traced
to the children's gestures. Sensitivity to gesture was comparable for teachers and
undergraduates. Thus, even without training, adults glean information, not only from children's words but also from their hands.

Abstract

Rhythmic patterns in interactive contexts characterize human behaviours such as conversational turn-taking. These timed patterns are also present in other animals, and often described as rhythm. Understanding fine-grained temporal adjustments in interaction requires complementary quantitative methodologies. Here, we showcase how vocal interactive rhythmicity in a non-human animal can be quantified using a multi-method approach. We record vocal interactions in harbour seal pups (Phoca vitulina) under controlled conditions. We analyse these data by combining analytical approaches, namely categorical rhythm analysis, circular statistics and time series analyses. We test whether pups' vocal rhythmicity varies across behavioural contexts depending on the absence or presence of a calling partner. Four research questions illustrate which analytical approaches are complementary versus orthogonal. For our data, circular statistics and categorical rhythms suggest that a calling partner affects a pup's call timing. Granger causality suggests that pups predictively adjust their call timing when interacting with a real partner. Lastly, the ADaptation and Anticipation Model estimates statistical parameters for a potential mechanism of temporal adaptation and anticipation. Our analytical complementary approach constitutes a proof of concept; it shows feasibility in applying typically unrelated techniques to seals to quantify vocal rhythmic interactivity across behavioural contexts.

Abstract

Recent artificial neural networks that process natural language achieve unprecedented performance in tasks requiring sentence-level understanding. As such, they could be interesting models of the integration of linguistic information in the human brain. We review works that compare these artificial language models with human brain activity and we assess the extent to which this approach has improved our understanding of the neural processes involved in natural language comprehension. Two main results emerge. First, the neural representation of word meaning aligns with the context-dependent, dense word vectors used by the artificial neural networks. Second, the processing hierarchy that emerges within artificial neural networks broadly matches the brain, but is surprisingly inconsistent across studies. We discuss current challenges in establishing artificial neural networks as process models of natural language comprehension. We suggest exploiting the highly structured representational geometry of artificial neural networks when mapping representations to brain data.

Abstract

When perceiving the world around us, we are constantly integrating pieces of information. The integrated experience consists of more than just the sum of its parts. For example, visual scenes are defined by a collection of objects as well as the spatial relations amongst them and sentence meaning is computed based on individual word semantic but also syntactic configuration. Having quantitative models of such integrated representations can help evaluate cognitive models of both language and scene perception. Here, we focus on language, and use a behavioral measure of perceived similarity as an approximation of integrated meaning representations. We collected similarity judgments of 200 subjects rating nouns or transitive sentences through an online multiple arrangement task. We find that perceived similarity between sentences is most strongly modulated by the semantic action category of the main verb. In addition, we show how non-negative matrix factorization of similarity judgment data can reveal multiple underlying dimensions reflecting both semantic as well as relational role information. Finally, we provide an example of how similarity judgments on sentence stimuli can serve as a point of comparison for artificial neural networks models (ANNs) by comparing our behavioral data against sentence similarity extracted from three state-of-the-art ANNs. Overall, our method combining the multiple arrangement task on sentence stimuli with matrix factorization can capture relational information emerging from integration of multiple words in a sentence even in the presence of strong focus on the verb.

Abstract

There is a robust positive relationship between reading skills and the time to name aloud an array of letters, digits, objects, or colors as quickly as possible. A convincing and complete explanation for the direction and locus of this association remains, however, elusive. In this study we investigated rapid automatized naming (RAN) of every-day objects and basic color patches in neurotypical illiterate and literate adults. Literacy acquisition and education enhanced RAN performance for both conceptual categories but this advantage was much larger for (abstract) colors than every-day objects. This result suggests that (i) literacy/education may be causal for serial rapid naming ability of non-alphanumeric items, (ii) differences in the lexical quality of conceptual representations can underlie the reading-related differential RAN performance.

Abstract

With a long-term aim of empowering researchers everywhere to contribute to work on language development, we organized the First Truly Global /L+/ International Summer/ Winter School on Language Acquisition, a free 5-day virtual school for early career researchers. In this paper, we describe the school, our experience organizing it, and lessons learned. The school had a diverse organizer team, composed of 26 researchers (17 from under represented areas: Subsaharan Africa, South and Southeast Asia, and Central and South America); and a diverse volunteer team, with a total of 95 volunteers from 35 different countries, nearly half from under represented areas. This helped world-wide Page 5 of 5 promotion of the school, leading to 958 registrations from 88 different countries, with 300 registrants (based in 63 countries, 80% from under represented areas) selected to participate in the synchronous aspects of the event. The school employed asynchronous (pre-recorded lectures, which were close-captioned) and synchronous elements (e.g., discussions to place the recorded lectures into participants' context; networking events) across three time zones. A post-school questionnaire revealed that 99% of participants enjoyed taking part in the school. Not with standing these positive quantitative outcomes, qualitative comments suggested we fell short in several areas, including the geographic diversity among lecturers and greater customization of contents to the participants’ contexts. Although much remains to be done to promote inclusivity in linguistic research, we hope our school will contribute to empowering researchers to investigate and publish on language acquisition in their home languages, to eventually result in more representative theories and empirical generalizations

Abstract

Based on six detailed case studies of languages in which focus is marked morphosyntactically, we propose a novel formal theory of focus marking, which can capture these as well as the familiar English-type prosodic focus marking. Special attention is paid to the patterns of focus syncretism, that is, when different size and/or location of focus are indistinguishably realized by the same form.

The key ingredients to our approach are that complex constituents (not just words) may be directly focally marked, and that the choice of focal marking is governed by blocking.

Abstract

Are regular morphologically complex words stored in the mental lexicon? Answers to this question have ranged from full listing to parsing for every regular complex word. We investigated the roles of storage and parsing in the visual domain for the productive Dutch plural suffix -en.Two experiments are reported that show that storage occurs for high-frequency noun plurals. A mathematical formalization of a parallel dual-route race model is presented that accounts for the patterns in the observed reaction time data with essentially one free parameter, the speed of the parsing route. Parsing for noun plurals appears to be a time-costly process, which we attribute to the ambiguity of -en,a suffix that is predominantly used as a verbal ending. A third experiment contrasted nouns and verbs. This experiment revealed no effect of surface frequency for verbs, but again a solid effect for nouns. Together, our results suggest that many noun plurals are stored in order to avoid the time-costly resolution of the subcategorization conflict that arises when the -ensuffix is attached to nouns.

Abstract

In this paper, I present an analysis of the so-called tense forms of Biblical Hebrew. While there is fairly broad consensus on the interpretation of the yiqtol tense form, the interpretation of the qdtal tense form has led to considerable controversy. I will argue that the qātal form has no intrinsic semantic value and that it serves a pragmatic function only, namely, signaling to the hearer that the event or state expressed by the verb cannot be tightly integrated into the discourse representation of the hearer, given the speaker's estimate of their common ground.

Abstract

This paper addresses the relation between meaning, lexical productivity, and frequency of use. Using density estimation as a visualization tool, we show that differences in semantic structure can be reflected in probability density functions estimated for word frequency distributions. We call attention to an example of a bimodal density, and suggest that bimodality arises when distributions of well-entrenched lexical tems, which appear to be lognormal, are mixed with distributions of productively reated nonce formations

Abstract

As children gradually master grammatical rules, they often go through a period of producing form-meaning associations that were not observed in the input. For example, 2- to 3-year-old English-learning children use the bare form of verbs in settings that require obligatory past tense meaning while already starting to produce the grammatical –ed inflection. While many studies have focused on overgeneralization errors, fewer studies have attempted to explain the root of this earlier stage of rule acquisition. In this work, we use computational modeling to replicate children's production behavior prior to the generalization of past tense production in English. We illustrate how seemingly erroneous productions emerge in a model, without being licensed in the grammar and despite the model aiming at conforming to grammatical forms. Our results show that bare form productions stem from a tension between two factors: (1) trying to produce a less frequent meaning (the past tense) and (2) being unable to restrict the production of frequent forms (the bare form) as learning progresses. Like children, our model goes through a stage of bare form production and then converges on adult-like production of the regular past tense, showing that these different stages can be accounted for through a single learning mechanism.

Abstract

Pairwise maximum likelihood (PML) estimation is a promising method for multilevel models with discrete responses. Multilevel models take into account that units within a cluster tend to be more alike than units from different clusters. The pairwise likelihood is then obtained as the product of bivariate likelihoods for all within-cluster pairs of units and items. In this study, we investigate the PML estimation method with computationally intensive multilevel random intercept and random slope structural equation models (SEM) in discrete data. In pursuing this, we first reconsidered the general ‘wide format’ (WF) approach for SEM models and then extend the WF approach with random slopes. In a small simulation study we the determine accuracy and efficiency of the PML estimation method by varying the sample size (250, 500, 1000, 2000), response scales (two-point, four-point), and data-generating model (mediation model with three random slopes, factor model with one and two random slopes). Overall, results show that the PML estimation method is capable of estimating computationally intensive random intercept and random slopes multilevel models in the SEM framework with discrete data and many (six or more) latent variables with satisfactory accuracy and efficiency. However, the condition with 250 clusters combined with a two-point response scale shows more bias.

Abstract

Western Austronesian languages, like Tagalog, have unique, complex voice systems that require the correct combinations of verbal and nominal markers, raising many questions about their learnability. In this article, we review the experimental and observational studies on both the L1 and L2 acquisition of Tagalog. The reviewed studies reveal error patterns that reflect the complex nature of the Tagalog voice system. The main goal of the article is to present a full picture of commission errors in young Filipino children’s expression of causation and agency in Tagalog by describing patterns of nominal marking and voice marking in L1 Tagalog and L2 Tagalog. It also aims to provide an overview of existing research, as well as characterize research on nominal and verbal acquisition, specifically in terms of research problems, data sources, and methodology. Additionally, we discuss the research gaps in at least fifty years’ worth of studies in the area from the 1960’s to the present, as well as ideas for future research to advance the state of the art.

Abstract

Gliomas are brain tumors infiltrating healthy cortical and subcortical areas that may host cognitive functions, such as language. If these areas are damaged during surgery, the patient might develop word retrieval or articulation problems. For this reason, many glioma patients are operated on awake, while their language functions are tested. For this practice, quite simple tests are used, for example, picture naming. This paper describes the process and timeline of picture naming (noun retrieval) and shows the timeline and localization of the distinguished stages. This is relevant information for presurgical language testing with navigated Magnetic Stimulation (nTMS). This novel technique allows us to identify cortical involved in the language production process and, thus, guides the neurosurgeon in how to approach and remove the tumor. We argue that not only nouns, but also verbs should be tested, since sentences are built around verbs, and sentences are what we use in daily life. This approach’s relevance is illustrated by two case studies of glioma patients.

Abstract

While formal variation in Latin’s numerals is generally acknowledged, little is known about (relative) incidence, distribution, context, or linguistic productivity. Addressing this lacuna, this article examines “decads+” in Latin, which convey the numbers between the full decads: the teens (‘eleven’ through ‘nineteen’) as well as the numerals between the higher decads starting at ‘twenty-one’ through ‘ninety-nine’. Latin’s decads+ are compounds and prone to variation. The data, which are drawn from a variety of sources, reveal (a) substantial formal variation in Latin, both internally and typologically; (b) co-existence of several types of formation; (c) productivity of potential borrowings; (d) resilience of early formations; (e) patterns in structure and incidence that anticipate the Romance numerals; and (f) historical trends. From a typological and general linguistic perspective as well, Latin’s decads+ are most relevant because their formal variation involves sequence, connector, and arithmetical operations and because their historical depth shows a gradual shift away from widespread formal variation, eventually resulting in the relatively rigid system found in Romance. Moreover, the combined system attested in decads+ in Latin – based on a combination of inherited, innovative and borrowed patterns and reflecting different stages of development – presents a number of typological inconsistencies that require further assessment

Abstract

Introduction: The processing of a foreign accent is known to increase cognitive load for the native listener, establish psychological distance with the foreign-accented speaker, and even influence decision-making. Similarly, research in the field of emotional processing indicates that a foreign accent may impact the native listener's emotionality. Taking these aspects into consideration, the current study aimed to confirm the hypothesis that a foreign accent, compared to a native accent, significantly affects the processing of affective-laden words.

Methods: In order to test this hypothesis, native Spanish speakers participated in an online experiment in which they rated on a Likert scale the valence and arousal of positive, neutral and negative words presented in native and foreign accents.

Results: Results confirm a foreign accent effect on emotional processing whereby positively valenced words are perceived as less positive and negatively valenced words as less negative when processed in a foreign accent compared to a native accent. Moreover, the arousal provoked by emotion words is lesser when words are processed in a foreign than a native accent.

Discussion: We propose possible, not mutually exclusive, explanations for the effect based on linguistic fluency, language attitudes and the linguistic context of language acquisition. Although further research is needed to confirm them, these explanations may be relevant for models of language comprehension and language learning. The observation of a reduction in emotionality resulting from a foreign accent is important for society as important decisions are made by representatives with diverse language and accent backgrounds. Our findings demonstrate that the choice of the language, which entails speaking in a native or a foreign accent, can be crucial when discussing topics such as the consequences of wars, pandemics, or natural disasters on human beings.

Abstract

In face-to-face communication, humans are faced with multiple layers of discontinuous multimodal signals, such as head, face, hand gestures, speech and non-speech sounds, which need to be interpreted as coherent and unified communicative actions. This implies a fundamental computational challenge: optimally binding only signals belonging to the same communicative action while segregating signals that are not connected by the communicative content. How do we achieve such an extraordinary feat, reliably, and efficiently? To address this question, we need to further move the study of human communication beyond speech-centred perspectives and promote a multimodal approach combined with interdisciplinary cooperation. Accordingly, we seek to reconcile two explanatory frameworks recently proposed in psycholinguistics and sensory neuroscience into a neurocognitive model of multimodal face-to-face communication. First, we introduce a psycholinguistic framework that characterises face-to-face communication at three parallel processing levels: multiplex signals, multimodal gestalts and multilevel predictions. Second, we consider the recent proposal of a lateral neural visual pathway specifically dedicated to the dynamic aspects of social perception and reconceive it from a multimodal perspective (“lateral processing pathway”). Third, we reconcile the two frameworks into a neurocognitive model that proposes how multiplex signals, multimodal gestalts, and multilevel predictions may be implemented along the lateral processing pathway. Finally, we advocate a multimodal and multidisciplinary research approach, combining state-of-the-art imaging techniques, computational modelling and artificial intelligence for future empirical testing of our model.

Abstract

Language is a universal human ability, acquired readily by young children, whootherwise struggle with many basics of survival. And yet, language ability is variableacross individuals. Naturalistic and experimental observations suggest that children’slinguistic skills vary with factors like socioeconomic status and children’s gender.But which factors really influence children’s day-to-day language use? Here, weleverage speech technology in a big-data approach to report on a unique cross-culturaland diverse data set: >2,500 d-long, child-centered audio-recordings of 1,001 2- to48-mo-olds from 12 countries spanning six continents across urban, farmer-forager,and subsistence-farming contexts. As expected, age and language-relevant clinical risksand diagnoses predicted how much speech (and speech-like vocalization) childrenproduced. Critically, so too did adult talk in children’s environments: Children whoheard more talk from adults produced more speech. In contrast to previous conclusionsbased on more limited sampling methods and a different set of language proxies,socioeconomic status (operationalized as maternal education) was not significantlyassociated with children’s productions over the first 4 y of life, and neither weregender or multilingualism. These findings from large-scale naturalistic data advanceour understanding of which factors are robust predictors of variability in the speechbehaviors of young learners in a wide range of everyday contexts

Abstract

The appreciation of music is a universal trait of humankind.1,2,3 Evidence supporting this notion includes the ubiquity of music across cultures4,5,6,7 and the natural predisposition toward music that humans display early in development.8,9,10 Are we musical animals because of species-specific predispositions? This question cannot be answered by relying on cross-cultural or developmental studies alone, as these cannot rule out enculturation.11 Instead, it calls for cross-species experiments testing whether homologous neural mechanisms underlying music perception are present in non-human primates. We present music to two rhesus monkeys, reared without musical exposure, while recording electroencephalography (EEG) and pupillometry. Monkeys exhibit higher engagement and neural encoding of expectations based on the previously seeded musical context when passively listening to real music as opposed to shuffled controls. We then compare human and monkey neural responses to the same stimuli and find a species-dependent contribution of two fundamental musical features—pitch and timing12—in generating expectations: while timing- and pitch-based expectations13 are similarly weighted in humans, monkeys rely on timing rather than pitch. Together, these results shed light on the phylogeny of music perception. They highlight monkeys’ capacity for processing temporal structures beyond plain acoustic processing, and they identify a species-dependent contribution of time- and pitch-related features to the neural encoding of musical expectations.

Abstract

The Basic Variety (BV) as conceived by Klein and Perdue (K&P) is a relatively stable state in the process of spontaneous (adult) second language acquisition, characterized by a small set of phrasal, semantic and pragmatic principles. These principles are derived by inductive generalization from a fairly large body of data. They are considered by K&P as roughly equivalent to those of Universal Grammar (UG) in the sense of Chomsky's Minimalist Program, with the proviso that the BV allows for only weak (or unmarked) formal features. The present article first discusses the viability of the BV principles proposed by K&P, arguing that some of them are in need of clarification with learner varieties, and that they are, in any case, not likely to be part of UG, as they exclude phenomena (e.g., so-called psych verbs) that cannot be ruled out even from the core of natural language. The article also considers the proposal that learner varieties of the BV type are completely unmarked instantiations of UG. Putting aside problems arising from the Minimalist Program, especially the question whether a grammar with only weak features would be a factual possibility and what it would look like, it is argued that the BV as characterized by K&P must be considered as the result of a process that crucially differs from first language acquisition as furnished by UG for a number of reasons, including properties of the BV itself. As a matter of fact, several of the properties claimed for the BV by K&P are more likely the result of general learning strategies than of language-specific principles. If this is correct, the characterization of the BV is a fairly interesting result, albeit of a rather different type than K&P suggest.

Abstract

The aesthetic values that individuals place on visual images are formed and shaped over a lifetime. However, whether the formation of visual aesthetic value is solely influenced by environmental exposure is still a matter of debate. Here, we considered differences in aesthetic value emerging across three visual domains: abstract images, scenes, and faces. We examined variability in two major dimensions of ordinary aesthetic experiences: taste-typicality and evaluation-bias. We build on two samples from the Australian Twin Registry where 1547 and 1231 monozygotic and dizygotic twins originally rated visual images belonging to the three domains. Genetic influences explained 26% to 41% of the variance in taste-typicality and evaluation-bias. Multivariate analyses showed that genetic effects were partially shared across visual domains. Results indicate that the heritability of major dimensions of aesthetic evaluations is comparable to that of other complex social traits, albeit lower than for other complex cognitive traits. The exception was taste-typicality for abstract images, for which we found only shared and unique environmental influences. Our study reveals that diverse sources of genetic and environmental variation influence the formation of aesthetic value across distinct visual domains and provides improved metrics to assess inter-individual differences in aesthetic value.

Abstract

Background

The 1q21.1 distal and 15q11.2 BP1-BP2 CNVs exhibit regional and global brain differences compared to non-carriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intra-individual variability measures can be used to test for regional differences beyond global differences in brain structure.

Methods

Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n=30) and duplication (n=27), and 15q11.2 BP1-BP2 deletion (n=170) and duplication (n=243) carriers and matched non-carriers (n=2,350). Regional intra-deviation (RID) scores i.e., the standardized difference between an individual’s regional difference and global difference, were used to test for regional differences that diverge from the global difference.

Results

For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate and temporal pole differed less, and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex and temporal pole differed less, and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness.

Conclusion

We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 CNVs. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 CNVs, with the potential to increase our understanding of mechanisms involved in altered neurodevelopment.

Abstract

We know that speech planning in conversational turn-taking can happen in overlap with the previous turn and research suggests that it starts as early as possible, that is, as soon as the gist of the previous turn becomes clear. The present study aimed to investigate whether planning proceeds all the way up to the last stage of articulatory preparation (i.e., putting the articulators in place for the first phoneme of the response) and what the timing of this process is. Participants answered pre-recorded quiz questions (being under the illusion that they were asked live), while their tongue movements were measured using ultrasound. Planning could start early for some quiz questions (i.e., midway during the question), but late for others (i.e., only at the end of the question). The results showed no evidence for a difference between tongue movements in these two types of questions for at least two seconds after planning could start in early-planning questions, suggesting that speech planning in overlap with the current turn proceeds more slowly than in the clear. On the other hand, when time-locking to speech onset, tongue movements differed between the two conditions from up to two seconds before this point. This suggests that articulatory preparation can occur in advance and is not fully tied to the overt response itself.

Abstract

While listening to meaningful speech, auditory input is processed more rapidly near the end (vs. beginning) of sentences. Although several studies have shown such word-to-word changes in auditory input processing, it is still unclear from which processing level these word-to-word dynamics originate. We investigated whether predictions derived from sentential context can result in auditory word-processing dynamics during sentence tracking. We presented healthy human participants with auditory stimuli consisting of word sequences, arranged into either predictable (coherent sentences) or less predictable (unstructured, random word sequences) 42-Hz amplitude-modulated speech, and a continuous 25-Hz amplitude-modulated distractor tone. We recorded RTs and frequency-tagged neuroelectric responses 1(auditory steady-state responses) to individual words at multiple temporal positions within the sentences, and quantified sentential context effects at each position while controlling for individual word characteristics (i.e., phonetics, frequency, and familiarity). We found that sentential context increasingly facilitates auditory word processing as evidenced by accelerated RTs and increased auditory steady-state responses to later-occurring words within sentences. These purely top–down contextually driven auditory word-processing dynamics occurred only when listeners focused their attention on the speech and did not transfer to the auditory processing of the concurrent distractor tone. These findings indicate that auditory word-processing dynamics during sentence tracking can originate from sentential predictions. The predictions depend on the listeners' attention to the speech, and affect only the processing of the parsed speech, not that of concurrently presented auditory streams.

Abstract

Two languages, historically related, both have lexical stress, with word stress distinctions signalled in each by the same suprasegmental cues. In each language, words can overlap segmentally but differ in placement of primary versus secondary stress (OCtopus, ocTOber). However, secondary stress occurs more often in the words of one language, Dutch, than in the other, English, and largely because of this, Dutch listeners find it helpful to use suprasegmental stress cues when recognising spoken words. English listeners, in contrast, do not; indeed, Dutch listeners can outdo English listeners in correctly identifying the source words of English word fragments (oc-). Here we show that Dutch-native listeners who reside in an English-speaking environment and have become dominant in English, though still maintaining their use of these stress cues in their L1, ignore the same cues in their L2 English, performing as poorly in the fragment identification task as the L1 English do.

Abstract

Introduction
Despite abundant research on the role of Broca's area in language processing, there is still no consensus on language specificity of this region and its connectivity network.

Methods
The present study employed the meta-analytic connectivity modeling procedure to identify and compare domain-specific (language-specific) and domain-general (shared between language and other domains) functional connectivity patterns of three subdivisions within the broadly defined Broca's area: pars opercularis (IFGop), pars triangularis (IFGtri), and pars orbitalis (IFGorb) of the left inferior frontal gyrus.

Results
The findings revealed a left-lateralized frontotemporal network for all regions of interest underlying domain-specific linguistic functions. The domain-general network, however, spanned frontoparietal regions that overlap with the multiple-demand network and subcortical regions spanning the thalamus and the basal ganglia.

Conclusions
The findings suggest that language specificity of Broca's area emerges within a left-lateralized frontotemporal network, and that domain-general resources are garnered from frontoparietal and subcortical networks when required by task demands.

Abstract

Background: Despite a pervasive cortico-centric view in cognitive neuroscience, subcortical structures including the thalamus have been shown to be increasingly involved in higher cognitive functions. Previous structural and functional imaging studies demonstrated cortico-thalamo-cortical loops which may support various cognitive functions including language. However, large-scale functional connectivity of the thalamus during language tasks has not been examined before. Methods: The present study employed meta-analytic connectivity modeling to identify language-related coactivation patterns of the left and right thalami. The left and right thalami were used as regions of interest to search the BrainMap functional database for neuroimaging experiments with healthy participants reporting language-related activations in each region of interest. Activation likelihood estimation analyses were then carried out on the foci extracted from the identified studies to estimate functional convergence for each thalamus. A functional decoding analysis based on the same database was conducted to characterize thalamic contributions to different language functions. Results: The results revealed bilateral frontotemporal and bilateral subcortical (basal ganglia) coactivation patterns for both the left and right thalami, and also right cerebellar coactivations for the left thalamus, during language processing. In light of previous empirical studies and theoretical frameworks, the present connectivity and functional decoding findings suggest that cortico-subcortical-cerebellar-cortical loops modulate and fine-tune information transfer within the bilateral frontotemporal cortices during language processing, especially during production and semantic operations, but also other language (e.g., syntax, phonology) and cognitive operations (e.g., attention, cognitive control). Conclusion: The current findings show that the language-relevant network extends beyond the classical left perisylvian cortices and spans bilateral cortical, bilateral subcortical (bilateral thalamus, bilateral basal ganglia) and right cerebellar regions.

Abstract

Neuronal populations code similar concepts by similar activity patterns across the human brain's semantic networks. However, it is unclear to what extent such meaning-to-symbol mapping reflects distributional statistics, or experiential information grounded in sensorimotor and emotional knowledge. We asked whether integrating distributional and experiential data better distinguished conceptual categories than each method taken separately. We examined the similarity structure of fMRI patterns elicited by visually presented action- and object-related words using representational similarity analysis (RSA). We found that the distributional and experiential/integrative models respectively mapped the high-dimensional semantic space in left inferior frontal, anterior temporal, and in left precentral, posterior inferior/middle temporal cortex. Furthermore, results from model comparisons uncovered category-specific similarity patterns, as both distributional and experiential models matched the similarity patterns for action concepts in left fronto-temporal cortex, whilst the experiential/integrative (but not distributional) models matched the similarity patterns for object concepts in left fusiform and angular gyrus.

Abstract

Speaking requires the temporally coordinated planning of core linguistic information, from conceptual meaning to articulation. Recent neurophysiological results suggested that these operations involve a cascade of neural events with subsequent onset times, whilst competing evidence suggests early parallel neural activation. To test these hypotheses, we examined the sources of neuromagnetic activity recorded from 34 participants overtly naming 134 images from 4 object categories (animals, tools, foods and clothes). Within each category, word length and phonological neighbourhood density were co-varied to target phonological/phonetic processes. Multivariate pattern analyses (MVPA) searchlights in source space decoded object categories in occipitotemporal and middle temporal cortex, and phonological/phonetic variables in left inferior frontal (BA 44) and motor cortex early on. The findings suggest early activation of multiple variables due to intercorrelated properties and interactivity of processing, thus raising important questions about the representational properties of target words during the preparatory time enabling overt speaking.

Abstract

This study examines whether children acquiring Tseltal (Mayan) demonstrate a noun bias – an overrepresentation of nouns in their early vocabularies. Nouns, specifically concrete and animate nouns, are argued to universally predominate in children’s early vocabularies because their referents are naturally available as bounded concepts to which linguistic labels can be mapped. This early advantage for noun learning has been documented using multiple methods and across a diverse collection of language populations. However, past evidence bearing on a noun bias in Tseltal learners has been mixed. Tseltal grammatical features and child–caregiver interactional patterns dampen the salience of nouns and heighten the salience of verbs, leading to the prediction of a diminished noun bias and perhaps even an early predominance of verbs. We here analyze the use of noun and verb stems in children’s spontaneous speech from egocentric daylong recordings of 29 Tseltal learners between 0;9 and 4;4. We find weak to no evidence for a noun bias using two separate analytical approaches on the same data; one analysis yields a preliminary suggestion of a flipped outcome (i.e. a verb bias). We discuss the implications of these findings for broader theories of learning bias in early lexical development.

Abstract

Eye gaze is a powerful ostensive cue in infant-caregiver interactions, with demonstrable effects on language acquisition. While the link between gaze following and later vocabulary is well-established, the effects of eye gaze on other aspects of language, such as speech processing, are less clear. In this EEG study, we examined the effects of the speaker’s eye gaze on ten-month-old infants’ neural tracking of naturalistic audiovisual speech, a marker for successful speech processing. Infants watched videos of a speaker telling stories, addressing the infant with direct or averted eye gaze. We assessed infants’ speech-brain coherence at stress (1–1.75 Hz) and syllable (2.5–3.5 Hz) rates, tested for differences in attention by comparing looking times and EEG theta power in the two conditions, and investigated whether neural tracking predicts later vocabulary. Our results showed that infants’ brains tracked the speech rhythm both at the stress and syllable rates, and that infants’ neural tracking at the syllable rate predicted later vocabulary. However, speech-brain coherence did not significantly differ between direct and averted gaze conditions and infants did not show greater attention to direct gaze. Overall, our results suggest significant neural tracking at ten months, related to vocabulary development, but not modulated by speaker’s gaze.

Abstract

The environment in which infants learn language is multimodal and rich with social cues. Yet, the effects of such cues, such as eye contact, on early speech perception have not been closely examined. This study assessed the role of ostensive speech, signalled through the speaker's eye gaze direction, on infants’ word segmentation abilities. A familiarisation-then-test paradigm was used while electroencephalography (EEG) was recorded. Ten-month-old Dutch-learning infants were familiarised with audio-visual stories in which a speaker recited four sentences with one repeated target word. The speaker addressed them either with direct or with averted gaze while speaking. In the test phase following each story, infants heard familiar and novel words presented via audio-only. Infants’ familiarity with the words was assessed using event-related potentials (ERPs). As predicted, infants showed a negative-going ERP familiarity effect to the isolated familiarised words relative to the novel words over the left-frontal region of interest during the test phase. While the word familiarity effect did not differ as a function of the speaker's gaze over the left-frontal region of interest, there was also a (not predicted) positive-going early ERP familiarity effect over right fronto-central and central electrodes in the direct gaze condition only. This study provides electrophysiological evidence that infants can segment words from audio-visual speech, regardless of the ostensiveness of the speaker's communication. However, the speaker's gaze direction seems to influence the processing of familiar words.

Abstract

Expressions of politeness such as 'please' are prominent elements of interactional conduct that are explicitly targeted in early socialization and are subject to cultural expectations around socially desirable behavior. Yet their specific interactional functions remain poorly understood. Using conversation analysis supplemented with systematic coding, this study investigates when and where interactants use 'please' in everyday requests. We find that 'please' is rare, occurring in only 7 percent of request attempts. Interactants use 'please' to manage face-threats when a request is ill fitted to its immediate interactional context. Within this, we identify two environments in which 'please' prototypically occurs. First, 'please' is used when the requestee has demonstrated unwillingness to comply. Second, 'please' is used when the request is intrusive due to its incompatibility with the requestee’s engagement in a competing action trajectory. Our findings advance research on politeness and extend Goffman’s theory of face-work, with particular salience for scholarship on request behavior.

Abstract

Tense/aspect morphology on verbs is often thought to depend on event features like telicity, but it is not known how speakers identify these features in visual scenes. To examine this question, we asked Japanese speakers to describe computer-generated animations of simple actions with variation in visual features related to telicity. Experiments with adults and children found that they could use goal information in the animations to select appropriate past and progressive verb forms. They also produced a large number of different verb forms. To explain these findings, a deep-learning model of verb production from visual input was created that could produce a human-like distribution of verb forms. It was able to use visual cues to select appropriate tense/aspect morphology. The model predicted that video duration would be related to verb complexity, and past tense production would increase when it received the endpoint as input. These predictions were confirmed in a third study with Japanese adults. This work suggests that verb production could be tightly linked to visual heuristics that support the understanding of events.

Abstract

The current study investigated how the role of pitch in one’s native language and L2 experience influenced musical melodic processing by testing Turkish and Mandarin Chinese advanced and beginning learners of English as an L2. Pitch has a lower functional load and shows a simpler pattern in Turkish than in Chinese as the former only contrasts between presence and the absence of pitch elevation, while the latter makes use of four different pitch contours lexically. Using the Musical Ear Test as the tool, we found that the Chinese listeners outperformed the Turkish listeners, and the advanced L2 learners outperformed the beginning learners. The Turkish listeners were further tested on their discrimination of bisyllabic Chinese lexical tones, and again an L2 advantage was observed. No significant difference was found for working memory between the beginning and advanced L2 learners. These results suggest that richness of tonal inventory of the native language is essential for triggering a music processing advantage, and on top of the tone language advantage, the L2 experience yields a further enhancement. Yet, unlike the tone language advantage that seems to relate to pitch expertise, learning an L2 seems to improve sound discrimination in general, and such improvement exhibits in non-native lexical tone discrimination.

Abstract

Background. Facial emotion recognition deficits are common after moderate-severe traumatic brain injury (TBI) and linked to poor social outcomes. We examine whether emotion recognition deficits extend to facial expressions depicted by emoji.
Methods. Fifty-one individuals with moderate-severe TBI (25 female) and fifty-one neurotypical peers (26 female) viewed photos of human faces and emoji. Participants selected the best-fitting label from a set of basic emotions (anger, disgust, fear, sadness, neutral, surprise, happy) or social emotions (embarrassed, remorseful, anxious, neutral, flirting, confident, proud).
Results. We analyzed the likelihood of correctly labeling an emotion by group (neurotypical, TBI), stimulus condition (basic faces, basic emoji, social emoji), sex (female, male), and their interactions. Participants with TBI did not significantly differ from neurotypical peers in overall emotion labeling accuracy. Both groups had poorer labeling accuracy for emoji compared to faces. Participants with TBI (but not neurotypical peers) had poorer accuracy for labeling social emotions depicted by emoji compared to basic emotions depicted by emoji. There were no effects of participant sex.
Discussion. Because emotion representation is more ambiguous in emoji than human faces, studying emoji use and perception in TBI is an important consideration for understanding functional communication and social participation after brain injury.

Abstract

Purpose

Real-world communication is situated in rich multimodal contexts, containing speech and gesture. Speakers often convey unique information in gesture that is not present in the speech signal (e.g., saying “He searched for a new recipe” while making a typing gesture). We examine the narrative retellings of participants with and without moderate-severe traumatic brain injury across three timepoints over two online Zoom sessions to investigate whether people with TBI can integrate information from co-occurring speech and gesture and if information from gesture persists across delays.

Methods

60 participants with TBI and 60 non-injured peers watched videos of a narrator telling four short stories. On key details, the narrator produced complementary gestures that conveyed unique information. Participants retold the stories at three timepoints: immediately after, 20-min later, and one-week later. We examined the words participants used when retelling these key details, coding them as a Speech Match (e.g., “He searched for a new recipe”), a Gesture Match (e.g., “He searched for a new recipe online), or Other (“He looked for a new recipe”). We also examined whether participants produced representative gestures themselves when retelling these details.

Results

Despite recalling fewer story details, participants with TBI were as likely as non-injured peers to report information from gesture in their narrative retellings. All participants were more likely to report information from gesture and produce representative gestures themselves one-week later compared to immediately after hearing the story.

Conclusion

We demonstrated that speech-gesture integration is intact after TBI in narrative retellings. This finding has exciting implications for the utility of gesture to support comprehension and memory after TBI and expands our understanding of naturalistic multimodal language processing in this population.

Abstract

Impaired facial affect recognition is common after traumatic brain injury (TBI) and linked to poor social outcomes. We explored whether perception of emotions depicted by emoji is also impaired after TBI. Fifty participants with TBI and 50 non-injured peers generated free-text labels to describe emotions depicted by emoji and rated their levels of valence and arousal on nine-point rating scales. We compared how the two groups’ valence and arousal ratings were clustered and examined agreement in the words participants used to describe emoji. Hierarchical clustering of affect ratings produced four emoji clusters in the non-injured group and three emoji clusters in the TBI group. Whereas the non-injured group had a strongly positive and a moderately positive cluster, the TBI group had a single positive valence cluster, undifferentiated by arousal. Despite differences in cluster numbers, hierarchical structures of the two groups’ emoji ratings were significantly correlated. Most emoji had high agreement in the words participants with and without TBI used to describe them. Participants with TBI perceived emoji similarly to non-injured peers, used similar words to describe emoji, and rated emoji similarly on the valence dimension. Individuals with TBI showed small differences in perceived arousal for a minority of emoji. Overall, results suggest that basic recognition processes do not explain challenges in computer-mediated communication reported by adults with TBI. Examining perception of emoji in context by people with TBI is an essential next step for advancing our understanding of functional communication in computer-mediated contexts after brain injury.

Abstract

Previous electroencephalography studies have yielded evidence for automatic processing of syntax and lexical stress. However, these studies looked at both effects in isolation, limiting their generalizability to everyday language comprehension. In the current study, we investigated automatic processing of grammatical agreement in the face of variation in lexical stress. Using an oddball paradigm, we measured the Mismatch Negativity (MMN) in Dutch-speaking participants while they listened to Dutch subject–verb sequences (linguistic context) or acoustically similar sequences in which the subject was replaced by filtered noise (nonlinguistic context). The verb forms differed in the inflectional suffix, rendering the subject–verb sequences grammatically correct or incorrect, and leading to a difference in the stress pattern of the verb forms. We found that the MMNs were modulated in both the linguistic and nonlinguistic condition, suggesting that the processing load induced by variation in lexical stress can hinder early automatic processing of grammatical agreement. However, as the morphological differences between the verb forms correlated with differences in number of syllables, an interpretation in terms of the prosodic structure of the sequences cannot be ruled out. Future research is needed to determine which of these factors (i.e., lexical stress, syllabic structure) most strongly modulate early syntactic processing.

Abstract

Since the cognitive revolution, language and action have been compared as cognitive systems, with cross-domain convergent views recently gaining renewed interest in biology, neuroscience, and cognitive science. Language and action are both combinatorial systems whose mode of combination has been argued to be hierarchical, combining elements into constituents of increasingly larger size. This structural similarity has led to the suggestion that they rely on shared cognitive and neural resources. In this article, we compare the conceptual and formal properties of hierarchy in language and action using set theory. We show that the strong compositionality of language requires a particular formalism, a magma, to describe the algebraic structure corresponding to the set of hierarchical structures underlying sentences. When this formalism is applied to actions, it appears to be both too strong and too weak. To overcome these limitations, which are related to the weak compositionality and sequential nature of action structures, we formalize the algebraic structure corresponding to the set of actions as a trace monoid. We aim to capture the different system properties of language and action in terms of the distinction between hierarchical sets and hierarchical sequences and discuss the implications for the way both systems could be represented in the brain.

Abstract

Importance
Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective
To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources
Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing.

Study Selection
Studies investigating the sex ratio in individuals with ABCA4-AR and data from centers that collected ABCA4 variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023.

Data Extraction and Synthesis
Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with ABCA4-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ2 Tests were conducted to compare the proportions of women in adult-onset autosomal non–ABCA4-associated retinopathy and adult-onset ABCA4-associated retinopathy and to investigate if women with suspected ABCA4-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023.

Main Outcomes and Measures
Proportion of women per ABCA4-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with ABCA4-associated retinopathy vs those with other autosomal retinopathies and for individuals with ABCA4-associated retinopathy who underwent genetic testing vs those who did not.

Results
Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; P < .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; P = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with ABCA4-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47).

Conclusions and Relevance
This meta-analysis supports the likelihood that sex is a modifier in developing ABCA4-associated retinopathy for individuals with a mild ABCA4 allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with ABCA4-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care–seeking behavior, or by health care discrimination between women and men with ABCA4-AR.

Abstract

Comprehenders predict what a speaker is likely to say when listening to non-native (L2) and native (L1) utterances. But what are the characteristics of L2 prediction, and how does it relate to L1 prediction? We addressed this question in a visual-world eye-tracking experiment, which tested when L2 English comprehenders integrated perspective into their predictions. Male and female participants listened to male and female speakers producing sentences (e.g., I would like to wear the nice…) about stereotypically masculine (target: tie; distractor: drill) and feminine (target: dress; distractor: hairdryer) objects. Participants predicted associatively, fixating objects semantically associated with critical verbs (here, the tie and the dress). They also predicted stereotypically consistent objects (e.g., the tie rather than the dress, given the male speaker). Consistent predictions were made later than associative predictions, and were delayed for L2 speakers relative to L1 speakers. These findings suggest prediction involves both automatic and non-automatic stages.

Abstract

To answer a question, speakers must determine their response and formulate it in words. But do they decide on a response before formulation, or do they formulate different potential answers before selecting one? We addressed this issue in a verbal question-answering experiment. Participants answered questions more quickly when they had one potential answer (e.g., Which tourist attraction in Paris is very tall?) than when they had multiple potential answers (e.g., What is the name of a Shakespeare play?). Participants also answered more quickly when the set of potential answers were on average short rather than long, regardless of whether there was only one or multiple potential answers. Thus, participants were not affected by the linguistic complexity of unselected but plausible answers. These findings suggest that participants select a single answer before formulation.

Abstract

Word frequency plays a key role in theories of lexical access, which assume that the word frequency effect (WFE, faster access to high-frequency than low-frequency words) occurs as a result of differences in the representation and processing of the words. In a seminal paper, Jescheniak and Levelt (1994) proposed that the WFE arises during the retrieval of word forms, rather than the retrieval of their syntactic representations (their lemmas) or articulatory commands. An important part of Jescheniak and Levelt's argument was that they found a stable WFE in a picture naming task, which requires complete lexical access, but not in a gender decision task, which only requires access to the words' lemmas and not their word forms. We report two attempts to replicate this pattern, one with new materials, and one with Jescheniak and Levelt's orginal pictures. In both studies we found a strong WFE when the pictures were shown for the first time, but much weaker effects on their second and third presentation. Importantly these patterns were seen in both the picture naming and the gender decision tasks, suggesting that either word frequency does not exclusively affect word form retrieval, or that the gender decision task does not exclusively tap lemma access.

Abstract

Although previous research has demonstrated that language comprehension can be egocentric, there is little evidence for egocentricity during prediction. In particular, comprehenders do not appear to predict egocentrically when the context makes it clear what the speaker is likely to refer to. But do comprehenders predict egocentrically when the context does not make it clear? We tested this hypothesis using a visual-world eye-tracking paradigm, in which participants heard sentences containing the gender-neutral pronoun They (e.g. They would like to wear…) while viewing four objects (e.g. tie, dress, drill, hairdryer). Two of these objects were plausible targets of the verb (tie and dress), and one was stereotypically compatible with the participant's gender (tie if the participant was male; dress if the participant was female). Participants rapidly fixated targets more than distractors, but there was no evidence that participants ever predicted egocentrically, fixating objects stereotypically compatible with their own gender. These findings suggest that participants do not fall back on their own egocentric perspective when predicting, even when they know that context does not make it clear what the speaker is likely to refer to.

Abstract

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands. A total of 858 probands were collected from 26 centers, of whom 722 carried no or one pathogenic ABCA4 variant while 136 cases carried two ABCA4 alleles, one of which was a frequent mild variant, suggesting that deep-intronic variants (DIVs) or other cis-modifiers might have been missed. After single molecule molecular inversion probes (smMIPs)-based sequencing of the complete 128-kb ABCA4 locus, the effect of putative splice variants was assessed in vitro by midigene splice assays in HEK293T cells. The breakpoints of copy number variants (CNVs) were determined by junction PCR and Sanger sequencing. ABCA4 sequence analysis solved 207/520 (39.8%) naïve or unsolved cases and 70/202 (34.7%) monoallelic cases, while additional causal variants were identified in 54/136 (39.7%) of probands carrying two variants. Seven novel DIVs and six novel non-canonical splice site variants were detected in a total of 35 alleles and characterized, including the c.6283-321C>G variant leading to a complex splicing defect. Additionally, four novel CNVs were identified and characterized in five alleles. These results confirm that smMIPs-based sequencing of the complete ABCA4 gene provides a cost-effective method to genetically solve retinopathy cases and that several rare structural and splice altering defects remain undiscovered in STGD1 cases.

Abstract

The extent to which languages share properties reflecting the non-linguistic constraints of the speakers who speak them is key to the debate regarding the relationship between language and cognition. A critical case is spatial communication, where it has been argued that semantic universals should exist, if anywhere. Here, using an experimental paradigm able to separate variation within a language from variation between languages, we tested the use of spatial demonstratives—the most fundamental and frequent spatial terms across languages. In n = 874 speakers across 29 languages, we show that speakers of all tested languages use spatial demonstratives as a function of being able to reach or act on an object being referred to. In some languages, the position of the addressee is also relevant in selecting between demonstrative forms. Commonalities and differences across languages in spatial communication can be understood in terms of universal constraints on action shaping spatial language and cognition.

Abstract

When speaking to infants, adults often produce speech that differs systematically from that directed to other adults. In order to quantify the acoustic properties of this speech style across a wide variety of languages and cultures, we extracted results from empirical studies on the acoustic features of infant-directed speech (IDS). We analyzed data from 88 unique studies (734 effect sizes) on the following five acoustic parameters that have been systematically examined in the literature: i) fundamental frequency (fo), ii) fo variability, iii) vowel space area, iv) articulation rate, and v) vowel duration. Moderator analyses were conducted in hierarchical Bayesian robust regression models in order to examine how these features change with infant age and differ across languages, experimental tasks and recording environments. The moderator analyses indicated that fo, articulation rate, and vowel duration became more similar to adult-directed speech (ADS) over time, whereas fo variability and vowel space area exhibited stability throughout development. These results point the way for future research to disentangle different accounts of the functions and learnability of IDS by conducting theory-driven comparisons among different languages and using computational models to formulate testable predictions.

Abstract

Because stress can occur in any position within an Eglish word, lexical prosody could serve as a minimal distinguishing feature between pairs of words. However, most pairs of English words with stress pattern opposition also differ vocalically: OBject an obJECT, CONtent and content have different vowels in their first syllables an well as different stress patters. To test whether prosodic information is made use in auditory word recognition independently of segmental phonetic information, it is necessary to examine pairs like FORbear – forBEAR of TRUSty – trusTEE, semantically unrelated words which echbit stress pattern opposition but no segmental difference. In a cross-modal priming task, such words produce the priming effects characteristic of homophones, indicating that lexical prosody is not used in the same was as segmental structure to constrain lexical access.

Abstract

The recent claim by Black and Byng (1986) that lexical access in reading is subject to prosodic constraints is examined and found to be unsupported. The evidence from impaired reading which Black and Byng report is based on poorly controlled stimulus materials and is inadequately analysed and reported. An alternative explanation of their findings is proposed, and new data are reported for which this alternative explanation can account but their model cannot. Finally, their proposal is shown to be theoretically unmotivated and in conflict with evidence from normal reading.

Abstract

In three experiments, the processing of lexical tone in Cantonese was examined. Cantonese listeners more often accepted a nonword as a word when the only difference between the nonword and the word was in tone, especially when the F0 onset difference between correct and erroneous tone was small. Same–different judgments by these listeners were also slower and less accurate when the only difference between two syllables was in tone, and this was true whether the F0 onset difference between the two tones was large or small. Listeners with no knowledge of Cantonese produced essentially the same same-different judgment pattern as that produced by the native listeners, suggesting that the results display the effects of simple perceptual processing rather than of linguistic knowledge. It is argued that the processing of lexical tone distinctions may be slowed, relative to the processing of segmental distinctions, and that, in speeded-response tasks, tone is thus more likely to be misprocessed than is segmental structure.

Abstract

An acoustically invariant one-word segment occurred in two versions of one syntactic context. In one version, the preceding intonation contour indicated that a stress would fall at the point where this word occurred. In the other version, the preceding contour predicted reduced stress at that point. Reaction time to the initial phoneme of the word was faster in the former case, despite the fact that no acoustic correlates of stress were present. It is concluded that a part of the sentence comprehension process is the prediction of upcoming sentence accents.

Abstract

Two bodies of recent research from experimental psycholinguistics are summarised, each of which is centred upon a concept from phonology: LEXICAL STRESS and the SYLLABLE. The evidence indicates that neither construct plays a role in prelexical representations during speech recog- nition. Both constructs, however, are well supported by other performance evidence. Testing phonological claims against performance evidence from psycholinguistics can be difficult, since the results of studies designed to test processing models are often of limited relevance to phonological theory.

Abstract

Four studies are reported in which young children’s response time to detect word targets was measured. Children under about six years of age did not show response time advantage for accented target words which adult listeners show. When semantic focus of the target word was manipulated independently of accent, children of about five years of age showed an adult-like response time advantage for focussed targets, but children younger than five did not. Id is argued that the processing advantage for accented words reflect the semantic role of accent as an expression of sentence focus. Processing advantages for accented words depend on the prior development of representations of sentence semantic structure, including the concept of focus. The previous literature on the development of prosodic competence shows an apparent anomaly in that young children’s productive skills appear to outstrip their receptive skills; however, this anomaly disappears if very young children’s prosody is assumed to be produced without an underlying representation of the relationship between prosody and semantics.

Abstract

Research on the exploitation of prosodic information in the recognition of spoken language is reviewed. The research falls into three main areas: the use of prosody in the recognition of spoken words, in which most attention has been paid to the question of whether the prosodic structure of a word plays a role in initial contact with stored lexical representations; the use of prosody in the computation of syntactic structure, in which the resolution of global and local ambiguities has formed the central focus; and the role of prosody in the processing of discourse structure, in which there has been a preponderance of work on the contribution of accentuation and deaccentuation to integration of concepts with an existing discourse model. The review reveals that in each area progress has been made towards new conceptions of prosody's role in processing, and in particular this has involved abandonment of previously held deterministic views of the relationship between prosodic structure and other aspects of linguistic structure

Abstract

Psycholinguists strive to construct a model of human language processing in general. But this does not imply that they should confine their research to universal aspects of linguistic structure, and avoid research on language-specific phenomena. First, even universal characteristics of language structure can only be accurately observed cross-linguistically. This point is illustrated here by research on the role of the syllable in spoken-word recognition, on the perceptual processing of vowels versus consonants, and on the contribution of phonetic assimilation phonemena to phoneme identification. In each case, it is only by looking at the pattern of effects across languages that it is possible to understand the general principle. Second, language-specific processing can certainly shed light on the universal model of language comprehension. This second point is illustrated by studies of the exploitation of vowel harmony in the lexical segmentation of Finnish, of the recognition of Dutch words with and without vowel epenthesis, and of the contribution of different kinds of lexical prosodic structure (tone, pitch accent, stress) to the initial activation of candidate words in lexical access. In each case, aspects of the universal processing model are revealed by analysis of these language-specific effects. In short, the study of spoken-language processing by human listeners requires cross-linguistic comparison.

Abstract

Speech segmentation procedures may differ in speakers of different languages. Earlier work based on French speakers listening to French words suggested that the syllable functions as a segmentation unit in speech processing. However, while French has relatively regular and clearly bounded syllables, other languages, such as English, do not. No trace of syllabifying segmentation was found in English listeners listening to English words, French words, or nonsense words. French listeners, however, showed evidence of syllabification even when they were listening to English words. We conclude that alternative segmentation routines are available to the human language processor. In some cases speech segmentation may involve the operation of more than one procedure

Abstract

Humans can easily extract the rhythm of a complex sound, like music, and move to its regular beat, like in dance. These abilities are modulated by musical training and vary significantly in untrained individuals. The causes of this variability are multidimensional and typically hard to grasp in single tasks. To date we lack a comprehensive model capturing the rhythmic fingerprints of both musicians and non-musicians. Here we harnessed machine learning to extract a parsimonious model of rhythmic abilities, based on behavioral testing (with perceptual and motor tasks) of individuals with and without formal musical training (n = 79). We demonstrate that variability in rhythmic abilities and their link with formal and informal music experience can be successfully captured by profiles including a minimal set of behavioral measures. These findings highlight that machine learning techniques can be employed successfully to distill profiles of rhythmic abilities, and ultimately shed light on individual variability and its relationship with both formal musical training and informal musical experiences.

Abstract

This paper presents the first part of a guide for documenting and describing child language, child-directed language and socialization patterns in diverse languages and cultures. The guide is intended for anyone interested in working across child language and language documentation,
including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students. We assume some basic familiarity with language documentation principles and methods, and, based on this, provide step-by-step suggestions for
collecting, analyzing and presenting child data. This first part of the guide focuses on constructing a sketch corpus that consists of minimally five hours of annotated and archived data and which documents communicative practices of children between the ages of 2 and 4.

Abstract

This paper presents the second part of a guide for documenting and describing child language, child-directed language and socialization patterns in diverse languages and cultures. The guide is intended for anyone interested in working across child language and language documentation,
including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students. We assume some basic familiarity with language documentation principles and methods, and, based on this, provide step-by-step suggestions for
collecting, analyzing and presenting child data. This second part of the guide focuses on developing a child language acquisition sketch. It takes the sketch corpus as its basis (which was introduced in the first part of this guide), and presents a model for analyzing and describing the corpus data.

Abstract

Humans readily engage in idle chat and heated discussions and negotiate tough joint decisions without ever having to think twice about how to keep the conversation grounded in mutual understanding. However, current attempts at identifying and assessing the conversational devices that make this possible are fragmented across disciplines and investigate single devices within single contexts. We present a comprehensive conceptual framework to investigate conversational devices, their relations, and how they adjust to contextual demands. In two corpus studies, we systematically test the role of three conversational devices: backchannels, repair, and linguistic entrainment. Contrasting affiliative and task-oriented conversations within participants, we find that conversational devices adaptively adjust to the increased need for precision in the latter: We show that low-precision devices such as backchannels are more frequent in affiliative conversations, whereas more costly but higher-precision mechanisms, such as specific repairs, are more frequent in task-oriented conversations. Further, task-oriented conversations involve higher complementarity of contributions in terms of the content and perspective: lower semantic entrainment and less frequent (but richer) lexical and syntactic entrainment. Finally, we show that the observed variations in the use of conversational devices are potentially adaptive: pairs of interlocutors that show stronger linguistic complementarity perform better across the two tasks. By combining motivated comparisons of several conversational contexts and theoretically informed computational analyses of empirical data the present work lays the foundations for a comprehensive conceptual framework for understanding the use of conversational devices in dialogue.

Abstract

Establishing and maintaining mutual understanding in everyday conversations is crucial. To do so, people employ a variety of conversational devices, such as backchannels, repair, and linguistic entrainment. Here, we explore whether the use of conversational devices might be influenced by cross-linguistic differences in the speakers’ native language, comparing two matched languages—Danish and Norwegian—differing primarily in their sound structure, with Danish being more opaque, that is, less acoustically distinguished. Across systematically manipulated conversational contexts, we find that processes supporting mutual understanding in conversations vary with external constraints: across different contexts and, crucially, across languages. In accord with our predictions, linguistic entrainment was overall higher in Danish than in Norwegian, while backchannels and repairs presented a more nuanced pattern. These findings are compatible with the hypothesis that native speakers of Danish may compensate for its opaque sound structure by adopting a top-down strategy of building more conversational redundancy through entrainment, which also might reduce the need for repairs. These results suggest that linguistic differences might be met by systematic changes in language processing and use. This paves the way for further cross-linguistic investigations and critical assessment of the interplay between cultural and linguistic factors on the one hand and conversational dynamics on the other.

Abstract

This paper investigates the fractional order behavior of ZnO ceramics at different frequencies. ZnO ceramic was prepared by high energy ball milling technique (HEBM) sintered at 1300℃ to study the frequency response properties. The frequency response properties (impedance and phase
angles) were examined by analyzing through impedance analyzer (100 Hz - 1 MHz). Constant phase angles (84°-88°) were obtained at low temperature ranges (25 ℃-125 ℃). The structural and
morphological composition of the ZnO ceramic was investigated using X-ray diffraction techniques and FESEM. Raman spectrum was studied to understand the different modes of ZnO ceramics. Machine learning (polynomial regression) models were trained on a dataset of 1280
experimental values to accurately predict the relationship between frequency and temperature with respect to impedance and phase values of the ZnO ceramic FOC. The predicted impedance values were found to be in good agreement (R2 ~ 0.98, MSE ~ 0.0711) with the experimental results.
Impedance values were also predicted beyond the experimental frequency range (at 50 Hz and 2 MHz) for different temperatures (25℃ - 500℃) and for low temperatures (10°, 15° and 20℃)
within the frequency range (100Hz - 1MHz).

Abstract

Developing efficient electromagnetic interference shielding materials has become significantly important in present times. This paper reports a series of (Ba1-xCax)(Ti0.9Sn0.1)O3 (BCTS) ((x =0, 0.01, 0.05, & 0.1)ceramics synthesized by conventional method which were studied for electromagnetic interference shielding (EMI) applications in X-band (8-12.4 GHz). EMI shielding properties and all S parameters (S11 & S12) of BCTS ceramic pellets were measured in the frequency range (8-12.4 GHz) using a Vector Network Analyser (VNA). The BCTS ceramic pellets for x = 0.05 showed maximum total effective shielding of 46 dB indicating good shielding behaviour for high-frequency applications. However, the development of lead-free ceramics with different concentrations usually requires iterative experiments resulting in, longer development cycles and higher costs. To address this, we used a machine learning (ML) strategy to predict the EMI shielding for different concentrations and experimentally verify the concentration predicted to give the best EMI shielding. The ML model predicted BCTS ceramics with concentration (x = 0.06, 0.07, 0.08, and 0.09) to have higher shielding values. On experimental verification, a shielding value of 58 dB was obtained for x = 0.08, which was significantly higher than what was obtained experimentally before applying the ML approach. Our results show the potential of using ML in accelerating the process of optimal material development, reducing the need for repeated experimental measures significantly.

Abstract

Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore’s ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype–phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.

Abstract

A fundamental fact about human minds is that they are never truly alone: all minds are steeped in situated interaction. That social interaction matters is recognised by any experimentalist who seeks to exclude its influence by studying individuals in isolation. On this view, interaction complicates cognition. Here we explore the more radical stance that interaction co-constitutes cognition: that we benefit from looking beyond single minds towards cognition as a process involving interacting minds. All around the cognitive sciences, there are approaches that put interaction centre stage. Their diverse and pluralistic origins may obscure the fact that collectively, they harbour insights and methods that can respecify foundational assumptions and fuel novel interdisciplinary work. What might the cognitive sciences gain from stronger interactional foundations? This represents, we believe, one of the key questions for the future. Writing as a multidisciplinary collective assembled from across the classic cognitive science hexagon and beyond, we highlight the opportunity for a figure-ground reversal that puts interaction at the heart of cognition. The interactive stance is a way of seeing that deserves to be a key part of the conceptual toolkit of cognitive scientists.

Abstract

The robustness and flexibility of human language is underpinned by a machinery of interactive repair. Repair is deeply intertwined with two core properties of human language: reflexivity (it can communicate about itself) and accountability (it is used to publicly enforce social norms). We review empirical and theoretical advances from across the cognitive sciences that mark interactive repair as a domain of pragmatic universals, a key place to study metacognition in interaction, and a system that enables collective computation. This provides novel insights on the role of repair in comparative cognition, language development and human-computer interaction. As an always-available fallback option and an infrastructure for negotiating social commitments, interactive repair is foundational to the resilience, complexity, and flexibility of human language.

Abstract

Artificial neural networks (ANNs) inspired by biology are beginning to be widely used to model behavioural and neural data, an approach we call ‘neuroconnectionism’. ANNs have been not only lauded as the current best models of information processing in the brain but also criticized for failing to account for basic cognitive functions. In this Perspective article, we propose that arguing about the successes and failures of a restricted set of current ANNs is the wrong approach to assess the promise of neuroconnectionism for brain science. Instead, we take inspiration from the philosophy of science, and in particular from Lakatos, who showed that the core of a scientific research programme is often not directly falsifiable but should be assessed by its capacity to generate novel insights. Following this view, we present neuroconnectionism as a general research programme centred around ANNs as a computational language for expressing falsifiable theories about brain computation. We describe the core of the programme, the underlying computational framework and its tools for testing specific neuroscientific hypotheses and deriving novel understanding. Taking a longitudinal view, we review past and present neuroconnectionist projects and their responses to challenges and argue that the research programme is highly progressive, generating new and otherwise unreachable insights into the workings of the brain.

Abstract

Prediction-based accounts of language acquisition have the potential to explain several different effects in child language acquisition and adult language processing. However, evidence regarding the developmental predictions of such accounts is mixed. Here, we consider several predictions of these accounts in two large-scale developmental studies of syntactic priming of the English dative alternation. Study 1 was a cross-sectional study (N = 140) of children aged 3−9 years, in which we found strong evidence of abstract priming and the lexical boost, but little evidence that either effect was moderated by age. We found weak evidence for a prime surprisal effect; however, exploratory analyses revealed a protracted developmental trajectory for verb-structure biases, providing an explanation as for why prime surprisal effects are more elusive in developmental populations. In a longitudinal study (N = 102) of children in tightly controlled age bands at 42, 48, and 54 months, we found priming effects emerged on trials with verb overlap early but did not observe clear evidence of priming on trials without verb overlap until 54 months. There was no evidence of a prime surprisal effect at any time point and none of the effects were moderated by age. The results relating to the emergence of the abstract priming and lexical boost effects are consistent with prediction-based models, while the absence of age-related effects appears to reflect the structure-specific challenges the dative presents to English-acquiring children. Overall, our complex pattern of findings demonstrates the value of developmental data sets in testing psycholinguistic theory.

Abstract

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype–phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype–phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.

Abstract

During face-to-face communication, recipients need to rapidly integrate a plethora of auditory and visual signals. This integration of signals from many different bodily articulators, all offset in time, with the information in the speech stream may either tax the cognitive system, thus slowing down language processing, or may result in multimodal facilitation. Using the classical shadowing paradigm, participants shadowed speech from face-to-face, naturalistic dyadic conversations in an audiovisual context, an audiovisual context without visual speech (e.g., lips), and an audio-only context. Our results provide evidence of a multimodal facilitation effect in human communication: participants were faster in shadowing words when seeing multimodal messages compared with when hearing only audio. Also, the more visual context was present, the fewer shadowing errors were made, and the earlier in time participants shadowed predicted lexical items. We propose that the multimodal facilitation effect may contribute to the ease of fast face-to-face conversational interaction.

Abstract

Learning can occur via trial and error; however, learning from conspecifics is faster and more efficient. Social animals can easily learn from conspecifics, but how do less social species learn? In particular, birds provide astonishing examples of social learning of vocalizations, while vocal learning from conspecifics is much less understood in mammals. We present a hypothesis aimed at solving an apparent paradox: how can harbor seals (Phoca vitulina) learn their song when their whole lives are marked by loose conspecific social contact? Harbor seal pups are raised individually by their mostly silent mothers. Pups' first few weeks of life show developed vocal plasticity; these weeks are followed by relatively silent years until sexually mature individuals start singing. How can this rather solitary life lead to a learned song? Why do pups display vocal plasticity at a few weeks of age, when this is apparently not needed? Our hypothesis addresses these questions and tries to explain how vocal learning fits into the natural history of harbor seals, and potentially other less social mammals. We suggest that harbor seals learn during a sensitive period within puppyhood, where they are exposed to adult males singing. In particular, we hypothesize that, to make this learning possible, the following happens concurrently: (1) mothers give birth right before male singing starts, (2) pups enter a sensitive learning phase around weaning time, which (3) coincides with their foraging expeditions at sea which, (4) in turn, coincide with the peak singing activity of adult males. In other words, harbor seals show vocal learning as pups so they can acquire elements of their future song from adults, and solitary adults can sing because they have acquired these elements as pups. We review the available evidence and suggest that pups learn adult vocalizations because they are born exactly at the right time to eavesdrop on singing adults. We conclude by advancing empirical predictions and testable hypotheses for future work.

Abstract

This article explores the role of text and reader characteristics in character engagement experiences. In an online study, participants completed several self-report and behavioral measures of social-cognitive abilities and read two literary narratives in which the presence of linguistic viewpoint markers was varied using a highly controlled manipulation strategy. Afterward, participants reported on their character engagement experiences. A principal component analysis on participants’ responses revealed the multidimensional nature of character engagement, which included both self- and other-oriented emotional responses (e.g., empathy, personal distress) as well as more cognitive responses (e.g., identification, perspective taking). Furthermore, character engagement was found to rely on a wide range of social-cognitive abilities but not on the presence of viewpoint markers. Finally, and most importantly, we did not find convincing evidence for an interplay between social-cognitive abilities and the presence of viewpoint markers. These findings suggest that readers rely on their social-cognitive abilities to engage with the inner worlds of fictional others, more so than on the lexical cues of those inner worlds provided by the text.

Abstract

Although there is a large body of research assessing whether exposure to narratives boosts social cognition immediately afterward, not much research has investigated the underlying mechanism of this putative effect. This experiment investigates the possibility that reading a narrative increases social curiosity directly afterward, which might explain the short-term boosts in social cognition reported by some others. We developed a novel measure of state social curiosity and collected data from participants (N = 222) who were randomly assigned to read an excerpt of narrative fiction or expository nonfiction. Contrary to our expectations, we found that those who read a narrative exhibited less social curiosity afterward than those who read an expository text. This result was not moderated by trait social curiosity. An exploratory analysis uncovered that the degree to which texts present readers with social targets predicted less social curiosity. Our experiment demonstrates that reading narratives, or possibly texts with social content in general, may engage and fatigue social-cognitive abilities, causing a temporary decrease in social curiosity. Such texts might also temporarily satisfy the need for social connection, temporarily reducing social curiosity. Both accounts are in line with theories describing how narratives result in better social cognition over the long term.

Abstract

Genetic investigations of people with speech and language disorders can provide windows into key aspects of human biology. Most genomic research into impaired speech development has so far focused on childhood apraxia of speech (CAS), a rare neurodevelopmental disorder characterized by difficulties with coordinating rapid fine motor sequences that underlie proficient speech. In 2001, pathogenic variants of FOXP2 provided the first molecular genetic accounts of CAS aetiology. Since then, disruptions in several other genes have been implicated in CAS, with a substantial proportion of cases being explained by high-penetrance variants. However, the genetic architecture underlying other speech-related disorders remains less well understood. Thus, in the present study, we used systematic DNA sequencing methods to investigate idiopathic speech delay, as characterized by delayed speech development in the absence of a motor speech diagnosis (such as CAS), a language/reading disorder, or intellectual disability. We performed genome sequencing in a cohort of 23 children with a rigorous diagnosis of idiopathic speech delay. For roughly half of the sample (ten probands), sufficient DNA was also available for genome sequencing in both parents, allowing discovery of de novo variants. In the thirteen singleton probands, we focused on identifying loss-of-function and likely damaging missense variants in genes intolerant to such mutations. We found that one speech delay proband carried a pathogenic frameshift deletion in SETD1A, a gene previously implicated in a broader variable monogenic syndrome characterized by global developmental problems including delayed speech and/or language development, mild intellectual disability, facial dysmorphisms, and behavioural and psychiatric symptoms. Of note, pathogenic SETD1A variants have been independently reported in children with CAS in two separate studies. In other probands in our speech delay cohort, likely pathogenic missense variants were identified affecting highly conserved amino acids in key functional domains of SPTBN1 and ARF3. Overall, this study expands the phenotype spectrum associated with pathogenic SETD1A variants, to also include idiopathic speech delay without CAS or intellectual disability, and suggests additional novel potential candidate genes that may harbour high-penetrance variants that can disrupt speech development.

Abstract

Several theories of predictive processing propose reduced sensory and neural responses to anticipated events. Support comes from magnetoencephalography/electroencephalography (M/EEG) studies, showing reduced auditory N1 and P2 responses to self-generated compared to externally generated events, or when the timing and form of stimuli are more predictable. The current study examined the sensitivity of N1 and P2 responses to statistical speech regularities. We employed a motor-to-auditory paradigm comparing event-related potential (ERP) responses to externally and self-triggered pseudowords. Participants were presented with a cue indicating which button to press (motor-auditory condition) or which pseudoword would be presented (auditory-only condition). Stimuli consisted of the participant's own voice uttering pseudowords that varied in phonotactic probability and syllable stress. We expected to see N1 and P2 suppression for self-triggered stimuli, with greater suppression effects for more predictable features such as high phonotactic probability and first-syllable stress in pseudowords. In a temporal principal component analysis (PCA), we observed an interaction between syllable stress and condition for the N1, where second-syllable stress items elicited a larger N1 than first-syllable stress items, but only for externally generated stimuli. We further observed an effect of syllable stress on the P2, where first-syllable stress items elicited a larger P2. Strikingly, we did not observe motor-induced suppression for self-triggered stimuli for either the N1 or P2 component, likely due to the temporal predictability of the stimulus onset in both conditions. Taking into account previous findings, the current results suggest that sensitivity to syllable stress regularities depends on task demands.