Publications

Abstract

Human ethologists have shown that humans are both attracted to others and at the same time fear them. They refer to this kind of fear with the technical term ‘social fear’ and claim that “it is alleviated with personal acquaintance but remains a principle characteristic of interpersonal behaviour. As a result, we maintain various degrees of greater distance between ourselves and others depending on the amount of confidence we have in the other” (Eibl-Eibesfeldt 1989: 335). The goal of this task is to conduct exploratory, heuristic research to establish a new subproject that – based on a corpus of video data – will investigate various forms of human spatial behaviour cross-culturally.

Abstract

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

Abstract

Contrary to received opinion, the Aristotelian Square of Opposition (square) is logically sound, differing from standard modern predicate logic (SMPL) only in that it restricts the universe U of cognitively constructible situations by banning null predicates, making it less unnatural than SMPL. U-restriction strengthens the logic without making it unsound. It also invites a cognitive approach to logic. Humans are endowed with a cognitive predicate logic (CPL), which checks the process of cognitive modelling (world construal) for consistency. The square is considered a first approximation to CPL, with a cognitive set-theoretic semantics. Not being cognitively real, the null set Ø is eliminated from the semantics of CPL. Still rudimentary in Aristotle’s On Interpretation (Int), the square was implicitly completed in his Prior Analytics (PrAn), thereby introducing U-restriction. Abelard’s reconstruction of the logic of Int is logically and historically correct; the loca (Leaking O-Corner Analysis) interpretation of the square, defended by some modern logicians, is logically faulty and historically untenable. Generally, U-restriction, not redefining the universal quantifier, as in Abelard and loca, is the correct path to a reconstruction of CPL. Valuation Space modelling is used to compute the effects of U-restriction.

Abstract

Semantic Syntax (SeSyn), originally called Generative Semantics, is an offshoot of Chomskyan generative grammar (ChoGG), rejected by Chomsky and his school in the late 1960s. SeSyn is the theory of algorithmical grammars producing the well-formed sentences of a language L from the corresponding semantic input, the Semantic Analysis (SA), represented as a traditional tree structure diagram in a specific formal language of incremental predicate logic with quantifying and qualifying operators (including the truth functions), and with all lexical items filled in. A SeSyn-type grammar is thus by definition transformational, but not generative. The SA originates in cognition in a manner that is still largely mysterious, but its actual form can be distilled from the Surface Structure (SS) of the sentences of L following the principles set out in SeSyn. In this presentation we provide a more or less technical résumé of the SeSyn theory. A comparison is made with ChoGG-type grammars, which are rejected on account of their intrinsic unsuitability as a cognitive-realist grammar model. The ChoGG model follows the pattern of a 1930s neopositivist Carnap-type grammar for formal logical languages. Such grammars are random sentence generators, whereas, obviously, (nonpathological) humans are not. A ChoGG-type grammar is fundamentally irreconcilable with a mentalist-realist theory of grammar. The body of the paper consists in a demonstration of the production of an English and a French sentence, the latter containing a classic instance of the cyclic rule of Predicate Raising (PR), essential in the general theory of clausal complementation yet steadfastly repudiated in ChoGG for reasons that have never been clarified. The processes and categories defined in SeSyn are effortlessly recognised in languages all over the world, whether indigenous or languages of a dominant culture—taking into account language-specific values for the general theoretical parameters involved. This property makes SeSyn particularly relevant for linguistic typology, which now ranks as the most promising branch of linguistics but has so far conspicuously lacked an adequate theoretical basis.

Abstract

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

Abstract

No idea is older in the history of linguistics than the thought that there is, somehow hidden underneath the surface of sentences, a form or a structure which provides a semantic analysis and lays bare their logical structure. In Plato’s Cratylus the theory was proposed, deriving from Heraclitus’ theory of explanatory underlying structure in physical nature, that words contain within themselves bits of syntactic structure giving their meanings. The Stoics held the same view and maintained moreover that every sentence has an underlying logical structure, which for them was the Aristotelian subject- predicate form. They even proposed transformational processes to derive the surface from the deep structure. The idea of a semantically analytic logical form underlying the sentences of every language kept reappearing in various guises at various times. Quite recently it re-emerged under the name of generative semantics.

Abstract

One of the challenges in speech perception is that listeners must deal with considerable
segmental and suprasegmental variability in the acoustic signal due to differences between talkers. Most previous studies have focused on how listeners deal with segmental variability.
In this EEG experiment, we investigated whether listeners track talker-specific usage of suprasegmental cues to lexical stress to recognize spoken words correctly. In a three-day training phase, Dutch participants learned to map non-word minimal stress pairs onto different object referents (e.g., USklot meant “lamp”; usKLOT meant “train”). These non-words were
produced by two male talkers. Critically, each talker used only one suprasegmental cue to signal stress (e.g., Talker A used only F0 and Talker B only intensity). We expected participants to learn which talker used which cue to signal stress. In the test phase, participants indicated whether spoken sentences including these non-words were correct (“The word for lamp is…”).
We found that participants were slower to indicate that a stimulus was correct if the non-word was produced with the unexpected cue (e.g., Talker A using intensity). That is, if in training Talker A used F0 to signal stress, participants experienced a mismatch between predicted and perceived phonological word-forms if, at test, Talker A unexpectedly used intensity to cue
stress. In contrast, the N200 amplitude, an event-related potential related to phonological
prediction, was not modulated by the cue mismatch. Theoretical implications of these
contrasting results are discussed. The behavioral findings illustrate talker-specific prediction of prosodic cues, picked up through perceptual learning during training.

Abstract

Autism spectrum disorder (ASD) and schizophrenia have been conceived as partly opposing disorders in terms of systemizing versus empathizing cognitive styles, with resemblances to male versus female average sex differences. Left-right asymmetry of the brain is an important aspect of its organization that shows average differences between the sexes, and can be altered in both ASD and schizophrenia. Here we mapped multivariate associations of polygenic risk scores for ASD and schizophrenia with asymmetries of regional cerebral cortical surface area, thickness and subcortical volume measures in 32,256 participants from the UK Biobank. Polygenic risks for the two disorders were positively correlated (r=0.08, p=7.13×10-50), and both were higher in females compared to males, consistent with biased participation against higher-risk males. Each polygenic risk score was associated with multivariate brain asymmetry after adjusting for sex, ASD r=0.03, p=2.17×10-9, schizophrenia r=0.04, p=2.61×10-11, but the multivariate patterns were mostly distinct for the two polygenic risks, and neither resembled average sex differences. Annotation based on meta-analyzed functional imaging data showed that both polygenic risks were associated with asymmetries of regions important for language and executive functions, consistent with behavioural associations that arose in phenome-wide association analysis. Overall, the results indicate that distinct patterns of subtly altered brain asymmetry may be functionally relevant manifestations of polygenic risks for ASD and schizophrenia, but do not support brain masculinization or feminization in their etiologies.

Abstract

Roughly 10% of the human population is left-handed, and this rate is increased in some brain-related disorders. The neuroanatomical correlates of hand preference have remained equivocal. We resampled structural brain image data from 28,802 right-handers and 3,062 left-handers (UK Biobank population dataset) to a symmetrical surface template, and mapped asymmetries for each of 8,681 vertices across the cerebral cortex in each individual. Left-handers compared to right-handers showed average differences of surface area asymmetry within the fusiform cortex, the anterior insula, the anterior middle cingulate cortex, and the precentral cortex. Meta-analyzed functional imaging data implicated these regions in executive functions and language. Polygenic disposition to left-handedness was associated with two of these regional asymmetries, and 18 loci previously linked with left-handedness by genome-wide screening showed associations with one or more of these asymmetries. Implicated genes included six encoding microtubule-related proteins: TUBB, TUBA1B, TUBB3, TUBB4A, MAP2, and NME7—mutations in the latter can cause left to right reversal of the visceral organs. There were also two cortical regions where average thickness asymmetry was altered in left-handedness: on the postcentral gyrus and the inferior occipital cortex, functionally annotated with hand sensorimotor and visual roles. These cortical thickness asymmetries were not heritable. Heritable surface area asymmetries of language-related regions may link the etiologies of hand preference and language, whereas nonheritable asymmetries of sensorimotor cortex may manifest as consequences of hand preference.

Abstract

Left–right hemispheric asymmetry is an important aspect of healthy brain organization for many functions including language, and it can be altered in cognitive and psychiatric disorders. No mechanism has yet been identified for establishing the human brain’s left–right axis. We performed multivariate genome-wide association scanning of cortical regional surface area and thickness asymmetries, and subcortical volume asymmetries, using data from 32,256 participants from the UK Biobank. There were 21 significant loci associated with different aspects of brain asymmetry, with functional enrichment involving microtubule-related genes and embryonic brain expression. These findings are consistent with a known role of the cytoskeleton in left–right axis determination in other organs of invertebrates and frogs. Genetic variants associated with brain asymmetry overlapped with those associated with autism, educational attainment and schizophrenia. Comparably large datasets will likely be required in future studies, to replicate and further clarify the associations of microtubule-related genes with variation in brain asymmetry, behavioural and psychiatric traits.

Abstract

Several abilities outside literacy proper are associated with reading and spelling, both phenotypically and genetically, though our knowledge of multivariate genomic covariance structures is incomplete. Here, we introduce structural models describing genetic and residual influences between traits to study multivariate links across measures of literacy, phonological awareness, oral language, and phonological working memory (PWM) in unrelated UK youth (8-13 years, N=6,453). We find that all phenotypes share a large proportion of underlying genetic variation, although especially oral language and PWM reveal substantial differences in their genetic variance composition with substantial trait-specific genetic influences. Multivariate genetic and residual trait covariance showed concordant patterns, except for marked differences between oral language and literacy/phonological awareness, where strong genetic links contrasted near-zero residual overlap. These findings suggest differences in etiological mechanisms, acting beyond a pleiotropic set of genetic variants, and implicate variation in trait modifiability even among phenotypes that have high genetic correlations.

Abstract

A corpus of digitized speech errors is used to compare the prosody of correction patterns for word-level vs. sound-level errors. Results for both peak F0 and perceived prosodic markedness confirm that speakers are more likely to mark corrections of word-level errors than corrections of sound-level errors, and that errors ambiguous between word-level and soundlevel (such as boat for moat) show correction patterns like those for sound level errors. This finding increases the plausibility of the claim that word-sound-ambiguous errors arise at the same level of processing as sound errors that do not form words.

Abstract

The results of an eye-tracking experiment are presented in which Dutch listeners' eye movements were monitored as they heard sentences and saw four pictured objects. Participants were instructed to click on the object mentioned in the sentence. In the critical sentences, a stop-initial target (e.g., "pot") was preceded by an [s], thus causing ambiguity regarding whether the sentence refers to a stop-initial or a cluster-initial word (e.g., "spot"). Participants made fewer fixations to the target pictures when the stop and the preceding [s] were cross-spliced from the cluster-initial word than when they were spliced from a different token of the sentence containing the stop-initial word. Acoustic analyses showed that the two versions differed in various measures, but only one of these - the duration of the [s] - correlated with the perceptual effect. Thus, in this context, the [s] duration information is an important factor guiding word recognition.

Abstract

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

Abstract

Previous fNIRS studies have suggested that adult-child cooperation is accompanied by increased inter-brain synchrony. However, its reflection in the electrophysiological synchrony remains unclear. In this study, we designed a naturalistic and well-controlled adult-child interaction paradigm using a tangram solving video game, and recorded dual-EEG from child and adult dyads during cooperative and individual conditions. By calculating the directed inter-brain connectivity in the theta and alpha bands, we found that the inter-brain frontal network was more densely connected and stronger in strength during the cooperative than the individual condition when the adult was watching the child playing. Moreover, the inter-brain network across different dyads shared more common information flows from the player to the observer during cooperation, but was more individually different in solo play. The results suggest an enhancement in inter-brain EEG interactions during adult-child cooperation. However, the enhancement was evident in all cooperative cases but partly depended on the role of participants.

Abstract

This article addresses the problem of computing an upper bound of
the degree d of a polynomial solution P(x) of an algebraic differ-
ence equation of the form Gx)(P(x −τ1), . . . , P(x −τs) + G0(x) =

0 when such P(x) with the coefficients in a field K of character-
istic zero exists and where G is a non-linear s-variable polynomial
with coefficients in K[x] and G0 is a polynomial with coefficients
in K.
It will be shown that if G is a quadratic polynomial with constant
coefficients then one can construct a countable family of polynomi-
als fl(u0) such that if there exists a (minimal) index l0 with fl0(u0)
being a non-zero polynomial, then the degree d is one of its roots
or d ≤ l0, or d < deg(G0). Moreover, the existence of such l0 will
be proven for K being the field of real numbers. These results are
based on the properties of the modules generated by special fami-
lies of homogeneous symmetric polynomials.
A sufficient condition for the existence of a similar bound of the
degree of a polynomial solution for an algebraic difference equation
with G of arbitrary total degree and with variable coefficients will
be proven as well.

Abstract

A doubly quantified sentence, such as All hikers climbed a hill, allows two interpretations: Did all hikers climb different hills, or did they climb the same hill? Previous work has shown that comprehenders construct disambiguated logical representations of these interpretations (Raffray & Pickering, 2010). We extended this line of research by investigating whether bilingual logical representations are shared between languages or separate per language. We conducted four sentence-picture matching experiments in which we primed interpretations of doubly quantified sentences in Dutch and French monolingual and bilingual language comprehension. These experiments showed that bilinguals have fully shared logical representations and that logical representations constructed in the L1 and the L2 are comparable. Moreover, a control experiment ruled out that the priming effects were driven by visual overlap between prime and target pictures. We discuss these findings in terms of a language-dependent account of logical representations, although these findings can also be reconciled with the idea that logical representations involve conceptual mental models of sentence meaning.

Abstract

Linguistic labels exert a particularly strong top-down influence on perception. The potency of this influence has been ascribed to their ability to evoke category-diagnostic features of concepts. In doing this, they facilitate the formation of a perceptual template concordant with those features, effectively biasing perceptual activation towards the labelled category. In this study, we employ a cueing paradigm with moving, point-light stimuli across three experiments, in order to examine how the number of biological motion features (form and kinematics) encoded in lexical cues modulates the efficacy of lexical top-down influence on perception. We find that the magnitude of lexical influence on biological motion perception rises as a function of the number of biological motion-relevant features carried by both cue and target. When lexical cues encode multiple biological motion features, this influence is robust enough to mislead participants into reporting erroneous percepts, even when a masking level yielding high performance is used.

Abstract

Meanings communicated with depictions constitute an integral part of how speakers and signers actually use language (Clark, 2016). Recent studies have argued that, in sign languages, depicting strategy like constructed action (CA), in which a signer enacts the referent, is used for referential purposes in narratives. Here, we tested the referential function of CA in a more controlled experimental setting and outside narrative context. Given the iconic properties of CA we hypothesized that this strategy could be used for efficient information transmission. Thus, we asked if use of CA increased with the increase in the information required to be communicated. Twenty-three deaf signers of LIS described unconnected images, which varied in the amount of information represented, to another player in a director–matcher game. Results revealed that participants used CA to communicate core information about the images and also increased the use of CA as images became informatively denser. The findings show that iconic features of CA can be used for referential function in addition to its depictive function outside narrative context and to achieve communicative efficiency.

Abstract

Incremental sentence generation imposes special constraints on the representation of the grammar and the design of the formulator (the module which is responsible for constructing the syntactic and morphological structure). In the model of natural speech production presented here, a formalism called Segment Grammar is used for the representation of linguistic knowledge. We give a definition of this formalism and present a formulator design which relies on it. Next, we present an object- oriented implementation of Segment Grammar. Finally, we compare Segment Grammar with other formalisms.

Abstract

Spinocerebellar ataxia type 23 (SCA23) is a late‐onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, for which there is no therapy available. It is caused by pathogenic variants in PDYN, which encodes prodynorphin (PDYN). PDYN is processed into the opioid peptides α‐neoendorphin and dynorphins (Dyn) A and B; inhibitory neurotransmitters that function in pain signaling, stress‐induced responses and addiction. Variants causing SCA23 mostly affect Dyn A, leading to loss of secondary structure and increased peptide stability. PDYNR212W mice express human PDYN containing the SCA23 variant p.R212W. These mice show progressive motor deficits from 3 months of age, climbing fiber (CF) deficits from 3 months of age, and Purkinje cell (PC) loss from 12 months of age. A mouse model for SCA1 showed similar CF deficits, and a recent study found additional developmental abnormalities, namely increased GABAergic interneuron connectivity and non‐cell autonomous disruption of PC function. As SCA23 mice show a similar pathology to SCA1 mice in adulthood, we hypothesized that SCA23 may also follow SCA1 pathology during development. Examining PDYNR212W cerebella during development, we uncovered developmental deficits from 2 weeks of age, namely a reduced number of GABAergic synapses on PC soma, possibly leading to the observed delay in early phase CF elimination between 2 and 3 weeks of age. Furthermore, CFs did not reach terminal height, leaving proximal PC dendrites open to be occupied by parallel fibers (PFs). The observed increase in vGlut1 protein—a marker for PF‐PC synapses—indicates that PFs indeed take over CF territory and have increased connectivity with PCs. Additionally, we detected altered expression of several critical Ca2+ channel subunits, potentially contributing to altered Ca2+ transients in PDYNR212W cerebella. These findings indicate that developmental abnormalities contribute to the SCA23 pathology and uncover a developmental role for PDYN in the cerebellum.

Abstract

Orthographic systems vary dramatically in the extent to which they encode a language’s phonological and lexico-semantic structure. Studies of the effects of orthographic transparency suggest that such variation is likely to have major implications for how the reading system operates. However, such studies have been unable to examine in isolation the contributory effect of transparency on reading due to co-varying linguistic or socio-cultural factors. We first investigated the phonological properties of languages using the range of the world’s orthographic systems (alphabetic; alphasyllabic; consonantal; syllabic; logographic), and found that, once geographical proximity is taken into account, phonological properties do not relate to orthographic system. We then explored the processing implications of orthographic variation by training a connectionist implementation of the triangle model of reading on the range of orthographic systems whilst controlling for phonological and semantic structure. We show that the triangle model is effective as a universal model of reading, able to replicate key behavioural and neuroscientific results. Importantly, the model also generates new predictions deriving from an explicit description of the effects of orthographic transparency on how reading is realised and defines the consequences of orthographic systems on reading processes.

Abstract

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

Abstract

SATB2-associated syndrome (SAS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the SATB2 gene, and is typically characterized by intellectual disability and severely impaired communication skills. The goal of this study was to contribute to the understanding of speech and language impairments in SAS, in the context of general developmental skills and cognitive and adaptive functioning. We performed detailed oral motor, speech and language profiling in combination with neuropsychological assessments in 23 individuals with a molecularly confirmed SAS diagnosis: 11 primarily verbal individuals and 12 primarily nonverbal individuals, independent of their ages. All individuals had severe receptive language delays. For all verbal individuals, we were able to define underlying speech conditions. While childhood apraxia of speech was most prevalent, oral motor problems appeared frequent as well and were more present in the nonverbal group than in the verbal group. For seven individuals, age-appropriate Wechsler indices could be derived, showing that the level of intellectual functioning of these individuals varied from moderate–mild ID to mild ID-borderline intellectual functioning. Assessments of adaptive functioning with the Vineland Screener showed relatively high scores on the domain “daily functioning” and relatively low scores on the domain “communication” in most individuals. Altogether, this study provides a detailed delineation of oral motor, speech and language skills and neuropsychological functioning in individuals with SAS, and can provide families and caregivers with information to guide diagnosis, management and treatment approaches.

Abstract

Heterozygous pathogenic variants in various FOXP genes cause specific developmental disorders. The phenotype associated with heterozygous variants in FOXP4 has not been previously described.
We assembled a cohort of eight individuals with heterozygous and mostly de novo variants in FOXP4: seven individuals with six different missense variants and one individual with a frameshift variant. We collected clinical data to delineate the phenotypic spectrum, and used in silico analyses and functional cell-based assays to assess pathogenicity of the variants.
We collected clinical data for six individuals: five individuals with a missense variant in the forkhead box DNA-binding domain of FOXP4, and one individual with a truncating variant. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia, cervical spine abnormalities, and ptosis. Luciferase assays showed loss-of-function effects for all these variants, and aberrant subcellular localization patterns were seen in a subset. The remaining two missense variants were located outside the functional domains of FOXP4, and showed transcriptional repressor capacities and localization patterns similar to the wild-type protein.
Collectively, our findings show that heterozygous loss-of-function variants in FOXP4 are associated with an autosomal dominant neurodevelopmental disorder with speech/language delays, growth defects, and variable congenital abnormalities.

Abstract

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

Abstract

We present results from cross-modal priming experiments on German participles and noun plurals. The experiments produced parallel results for both inflectional systems. Regular inflection exhibits full priming whereas irregularly inflected word forms show only partial priming: after hearing regularly inflected words (-t participles and -s plurals), lexical decision times on morphologically related word forms (presented visually) were similar to reaction times for a base-line condition in which prime and target were identical, but significantly shorter than in a control condition where prime and target were unrelated. In contrast, prior presentation of irregular words (-n participles and -er plurals) led to significantly longer response times on morphologically related word forms than the prior presentation of the target itself. Hence, there are clear priming differences between regularly and irregularly inflected German words. We compare the findings on German with experimental results on regular and irregular inflection in English and Italian, and discuss theoretical implications for single versus dual-mechanism models of inflection.

Abstract

Do we structure object-related conceptual information according to real-world sensorimotor experience, or can it also be shaped by linguistic information? This study investigates whether a feature of language coded in grammar—numeral classifiers—affects the conceptual representation of objects. We compared speakers of Mandarin (a classifier language) with speakers of Dutch (a language without classifiers) on how they judged object similarity in four studies. In the first three studies, participants had to rate how similar a target object was to four comparison objects, one of which shared a classifier with the target. Objects were presented as either words or pictures. Overall, the target object was always rated as most similar to the object with the shared classifier, but this was the case regardless of the language of the participant. In a final study employing a successive pile-sorting task, we also found that the underlying object concepts were similar for speakers of Mandarin and Dutch. Speakers of a non-classifier language are therefore sensitive to the same conceptual similarities that underlie classifier systems in a classifier language. Classifier systems may therefore reflect conceptual structure, rather than shape it.

Abstract

We present the first ERP experiments that test the online processing of the scalar implicature some ⇝ not all in contexts where the speaker competence assumption is violated. Participants observe game scenarios with four open cards on the table and two closed cards outside of the table, while listening to statements made by a virtual player. In the full access context, the player makes a fully informed statement by referring only to the open cards, as cards on the table; in the partial access context, she makes a partially informed statement by referring to the whole set of cards, as cards in the game. If all of the open cards contain a given object X (Fullset condition), then some cards on the table contain Xs is inconsistent with the not all reading, whereas it is unknown whether some cards in the game contain X is consistent with this reading. If only a subset of the open cards contains X (Subset condition), then both utterances are known to be consistent with the not all implicature. Differential effects are observed depending on the quantifier reading adopted by the participant: For those participants who adopt the not all reading in the full access context, but not in the partial access context (weak pragmatic reading), a late posterior negativity effect is observed in the partial access context for the Fullset relative to the Subset condition. This effect is argued to reflect inference-driven context retrieval and monitoring processes related to epistemic reasoning involved in evaluating the competence assumption. By contrast, for participants who adopt the logical interpretation of some (some and possibly all), an N400 effect is observed in the partial access context, when comparing the Subset against the Fullset condition, which is argued to result from the competition between the two quantifying expressions some cards on the table and some cards in the game functioning in the experiment as scalar alternatives.

Abstract

Purpose: When we speak, we gesture, and indeed, persons with aphasia gesture more frequently. The reason(s) for this is still being investigated, spurring an increase in the number of studies of gesture in persons with aphasia. As the number of studies increases, so too does the need for a shared set of best practices for gesture research in aphasia. After briefly reviewing the importance and use of gesture in persons with aphasia, this viewpoint puts forth methodological and design considerations when evaluating gesture in persons with aphasia.
Method & Results: We explore several different design and methodological considerations for gesture research specific to persons with aphasia, such as video angle specifications, data collection techniques, and analysis considerations. The goal of these suggestions is to develop transparent and reproducible methods for evaluating gesture in aphasia to build a solid foundation for continued work in this area.
Conclusions: We have proposed that it is critical to evaluate multimodal communication in a methodologically robust way to facilitate increased knowledge about the relationship of gesture to spoken language, cognition, and to other aspects of living with aphasia and recovery from aphasia. We conclude by postulating future directions for gesture research in aphasia.

Abstract

Abstract Objective Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations. Methods Confounding factors, including the heterogeneous etiology of epilepsies and medication effects, hamper studies on background brain activity in people with epilepsy. To overcome this limitation, we compared genetic data from a genome-wide association study (GWAS) on epilepsy (n = 12 803 people with epilepsy and 24 218 controls) with that from a GWAS on background EEG (n = 8425 subjects without epilepsy), in which background EEG oscillation power was quantified in four different frequency bands: alpha, beta, delta, and theta. We replicated our findings in an independent epilepsy replication dataset (n = 4851 people with epilepsy and 20 428 controls). To assess the genetic overlap between these phenotypes, we performed genetic correlation analyses using linkage disequilibrium score regression, polygenic risk scores, and Mendelian randomization analyses. Results Our analyses show strong genetic correlations of genetic generalized epilepsy (GGE) with background EEG oscillations, primarily in the beta frequency band. Furthermore, we show that subjects with higher beta and theta polygenic risk scores have a significantly higher risk of having generalized epilepsy. Mendelian randomization analyses suggest a causal effect of GGE genetic liability on beta oscillations. Significance Our results point to shared biological mechanisms underlying background EEG oscillations and the susceptibility for GGE, opening avenues to investigate the clinical utility of background EEG oscillations in the diagnostic workup of epilepsy.

Abstract

Relying on the methodology of conversation analysis, this article examines a practice in ordinary conversation characterized by the resaying of a word, phrase, or sentence. The article shows that multiple sayings such as "No no no" or "Alright alright alright" are systematic in both their positioning relative to the interlocutor's talk and in their function. Specifically, the findings are that multiple sayings are a resource speakers have to display that their turn is addressing an in progress course of action rather than only the just prior utterance. Speakers of multiple sayings communicate their stance that the prior speaker has persisted unnecessarily in the prior course of action and should properly halt course of action.

Abstract

When people request information, they have a variety of means for eliciting the information. In English two of the primary resources for eliciting information include asking questions, making statements about their interlocutor (thereby generating confirmation or revision). But within these types there are a variety of ways that these information elicitors can be designed. The goal of this task is to examine how different languages seek and provide information, the extent to which syntax vs prosodic resources are used (e.g., in questions), and the extent to which the design of information seeking actions and their responses display a structural preference to promote social solidarity.

Abstract

Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem cell (iPSC) lines from 3 individuals with LND, along with 6 control lines from 3 normal individuals. All 12 lines had the characteristics of pluripotent stem cells, as assessed by immunostaining for pluripotency markers, expression of pluripotency genes, and differentiation into the 3 primary germ cell layers. Gene expression profiling with RNAseq demonstrated significant heterogeneity among the lines. Despite this heterogeneity, several anticipated abnormalities were readily detectable across all LND lines, including reduced HPRT1 mRNA. Several unexpected abnormalities were also consistently detectable across the LND lines, including decreases in FAR2P1 and increases in RNF39. Shotgun proteomics also demonstrated several expected abnormalities in the LND lines, such as absence of HGprt protein. The proteomics study also revealed several unexpected abnormalities across the LND lines, including increases in GNAO1 decreases in NSE4A. There was a good but partial correlation between abnormalities revealed by the RNAseq and proteomics methods. Finally, functional studies demonstrated LND lines had no HGprt enzyme activity and resistance to the toxic pro-drug 6-thioguanine. Intracellular purines in the LND lines were normal, but they did not recycle hypoxanthine. These cells provide a novel resource to reveal insights into the relevance of heterogeneity among iPSC lines and applications for modeling LND.

Abstract

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

Abstract

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

Abstract

The murine homologue of the human chloride channel gene, CLCN5, defects in which are responsible for Dent disease, has been cloned and characterized. We isolated the entire coding region of mouse Clcn5 cDNA and approximately 45 kb of genomic sequence embracing the gene. To study its transcriptional control, the 5' upstream sequences of the mouse Clcn5 gene were cloned into a luciferase reporter vector. Deletion analysis of 1.5 kb of the 5' flanking sequence defined an active promoter region within 128 bp of the putative transcription start site, which is associated with a TATA motif but lacks a CAAT consensus. Within this sequence, there is a motif with homology to a purine-rich sequence responsible for the kidney-specific promoter activity of the rat CLC-K1 gene, another member of the chloride-channel gene family expressed in kidney. An enhancer element that confers a 10- to 20-fold increase in the promoter activity of the mouse Clcn5 gene was found within the first intron. The organization of the human CLCN5 and mouse Clcn5 gene structures is highly conserved, and the sequence of the murine protein is 98% similar to that of human, with its highest expression seen in the kidney. This study thus provides the first identification of the transcriptional control region of, and the basis for an understanding of the regulatory mechanism that controls, this kidney-specific, chloride-channel gene.