Publications

Abstract

Verbal working memory (VWM), the ability to maintain and manipulate representations of speech sounds over short periods, is held by some influential models to be independent from the systems responsible for language production and comprehension [e.g., Baddeley, A. D. Working memory, thought, and action. New York, NY: Oxford University Press, 2007]. We explore the alternative hypothesis that maintenance in VWM is subserved by temporary activation of the language production system [Acheson, D. J., & MacDonald, M. C. Verbal working memory and language production: Common approaches to the serial ordering of verbal information. Psychological Bulletin, 135, 50–68, 2009b]. Specifically, we hypothesized that for stimuli lacking a semantic representation (e.g., nonwords such as mun), maintenance in VWM can be achieved by cycling information back and forth between the stages of phonological encoding and articulatory planning. First, fMRI was used to identify regions associated with two different stages of language production planning: the posterior superior temporal gyrus (pSTG) for phonological encoding (critical for VWM of nonwords) and the middle temporal gyrus (MTG) for lexical–semantic retrieval (not critical for VWM of nonwords). Next, in the same subjects, these regions were targeted with repetitive transcranial magnetic stimulation (rTMS) during language production and VWM task performance. Results showed that rTMS to the pSTG, but not the MTG, increased error rates on paced reading (a language production task) and on delayed serial recall of nonwords (a test of VWM). Performance on a lexical–semantic retrieval task (picture naming), in contrast, was significantly sensitive to rTMS of the MTG. Because rTMS was guided by language production-related activity, these results provide the first causal evidence that maintenance in VWM directly depends on the long-term representations and processes used in speech production.

Abstract

The relationship between print exposure and measures of reading skill was examined in college students (N=99, 58 female; mean age=20.3 years). Print exposure was measured with several new self-reports of reading and writing habits, as well as updated versions of the Author Recognition Test and the Magazine Recognition Test (Stanovich & West, 1989). Participants completed a sentence comprehension task with syntactically complex sentences, and reading times and comprehension accuracy were measured. An additional measure of reading skill was provided by participants’ scores on the verbal portions of the ACT, a standardized achievement test. Higher levels of print exposure were associated with higher sentence processing abilities and superior verbal ACT performance. The relative merits of different print exposure assessments are discussed.

Abstract

The influence of semantic processing on the serial ordering of items in short-term memory was explored using a novel dual-task paradigm. Participants engaged in 2 picture-judgment tasks while simultaneously performing delayed serial recall. List material varied in the presence of phonological overlap (Experiments 1 and 2) and in semantic content (concrete words in Experiment 1 and 3; nonwords in Experiments 2 and 3). Picture judgments varied in the extent to which they required accessing visual semantic information (i.e., semantic categorization and line orientation judgments). Results showed that, relative to line-orientation judgments, engaging in semantic categorization judgments increased the proportion of item-ordering errors for concrete lists but did not affect error proportions for nonword lists. Furthermore, although more ordering errors were observed for phonologically similar relative to dissimilar lists, no interactions were observed between the phonological overlap and picture-judgment task manipulations. These results demonstrate that lexical-semantic representations can affect the serial ordering of items in short-term memory. Furthermore, the dual-task paradigm provides a new method for examining when and how semantic representations affect memory performance.

Abstract

Research on written language comprehension has generally assumed that the phonological properties of a word have little effect on sentence comprehension beyond the processes of word recognition. Two experiments investigated this assumption. Participants silently read relative clauses in which two pairs of words either did or did not have a high degree of phonological overlap. Participants were slower reading and less accurate comprehending the overlap sentences compared to the non-overlapping controls, even though sentences were matched for plausibility and differed by only two words across overlap conditions. A comparison across experiments showed that the overlap effects were larger in the more difficult object relative than in subject relative sentences. The reading patterns showed that phonological representations affect not only memory for recently encountered sentences but also the developing sentence interpretation during on-line processing. Implications for theories of sentence processing and memory are discussed. Highlights The work investigates the role of phonological information in sentence comprehension, which is poorly understood. ► Subjects read object and subject relative clauses +/- phonological overlap in two pairs of words. ► Unique features of the study were online reading measures and pinpointed overlap locations. ► Phonological overlap slowed reading speed and impaired sentence comprehension, especially for object relatives. ► The results show a key role for phonological information during online comprehension, not just later sentence memory.

Abstract

Many accounts of working memory posit specialized storage mechanisms for the maintenance of serial order. We explore an alternative, that maintenance is achieved through temporary activation in the language production architecture. Four experiments examined the extent to which the phonological similarity effect can be explained as a sublexical speech error. Phonologically similar nonword stimuli were ordered to create tongue twister or control materials used in four tasks: reading aloud, immediate spoken recall, immediate typed recall, and serial recognition. Dependent measures from working memory (recall accuracy) and language production (speech errors) fields were used. Even though lists were identical except for item order, robust effects of tongue twisters were observed. Speech error analyses showed that errors were better described as phoneme rather than item ordering errors. The distribution of speech errors was comparable across all experiments and exhibited syllable-position effects, suggesting an important role for production processes. Implications for working memory and language production are discussed.

Abstract

Verbal working memory (WM) tasks typically involve the language production architecture for recall; however, language production processes have had a minimal role in theorizing about WM. A framework for understanding verbal WM results is presented here. In this framework, domain-specific mechanisms for serial ordering in verbal WM are provided by the language production architecture, in which positional, lexical, and phonological similarity constraints are highly similar to those identified in the WM literature. These behavioral similarities are paralleled in computational modeling of serial ordering in both fields. The role of long-term learning in serial ordering performance is emphasized, in contrast to some models of verbal WM. Classic WM findings are discussed in terms of the language production architecture. The integration of principles from both fields illuminates the maintenance and ordering mechanisms for verbal information.

Abstract

Speakers vary their speech rate considerably during a conversation, and listeners are able to quickly adapt to these variations in speech rate. Adaptation to fast speech rates is usually measured using artificially time-compressed speech. This study examined adaptation to two types of fast speech: artificially time-compressed speech and natural fast speech. Listeners performed a speeded sentence verification task on three series of sentences: normal-speed sentences, time-compressed sentences, and natural fast sentences. Listeners were divided into two groups to evaluate the possibility of transfer of learning between the time-compressed and natural fast conditions. The first group verified the natural fast before the time-compressed sentences, while the second verified the time-compressed before the natural fast sentences. The results showed transfer of learning when the time-compressed sentences preceded the natural fast sentences, but not when natural fast sentences preceded the time-compressed sentences. The results are discussed in the framework of theories on perceptual learning. Second, listeners show adaptation to the natural fast sentences, but performance for this type of fast speech does not improve to the level of time-compressed sentences.

Abstract

The development of emotions in the offspring of any species, especially humans, is one of the most important and complex processes necessary to ensure their survival. Although other nonverbal expressions of emotion such as body movements provide valuable clues, facial expressions in human infants are arguably the most crucial component in tracking emotional responses. Tracing the developmental path of facial expressions is thus the aim of this longitudinal research study which explores mother-child interactions from infancy to pre-school in Indian culture via video-taped datasets recorded as part of multiple projects spanning Indian universities (IITD, JNU, DU), Osnabruck University and MPI-Netherlands.

Abstract

Ambiguity surrounds the existence and morphology of the human forniceal commissure. We combine advanced in-vivo tractography, multidirectional ex-vivo fiber dissection, and multiplanar histological analysis to characterize this structure’s anatomy. Across all 178 subjects, in-vivo fiber dissection based on the Human Connectome Project 7 T MRI data identifies no interhemispheric connections between the crura fornicis. Multidirectional ex-vivo fiber dissection under the operating microscope demonstrates the psalterium as a thin soft-tissue membrane spanning between the right and left crus fornicis, but exposes no commissural fibers. Multiplanar histological analysis with myelin and Bielchowsky silver staining, however, visualizes delicate cruciform fibers extending between the crura fornicis, enclosed by connective tissue, the psalterium. The human forniceal commissure is therefore much more delicate than previously described and presented in anatomical textbooks. This finding is consistent with the observed phylogenetic trend of a reduction of the forniceal commissure in non-human primates compared to non-primate eutherian mammals.

Abstract

Alterations in brain size and organization represent some of the most distinctive changes in the emergence of our species. Yet, there is limited understanding of how genetic factors contributed to altered neuroanatomy during human evolution. Here, we analyze neuroimaging and genetic data from up to 30,000 people in the UK Biobank and integrate with genomic annotations for different aspects of human evolution, including those based on ancient DNA and comparative genomics. We show that previously reported signals of recent polygenic selection for cortical anatomy are not replicable in a more ancestrally homogeneous sample. We then investigate relationships between evolutionary annotations and common genetic variants shaping cortical surface area and white-matter connectivity for each hemisphere. Our analyses identify single-nucleotide polymorphism heritability enrichment in human-gained regulatory elements that are active in early brain development, affecting surface areas of several parts of the cortex, including left-hemispheric speech-associated regions. We also detect heritability depletion in genomic regions with Neanderthal ancestry for connectivity of the uncinate fasciculus; this is a white-matter tract involved in memory, language, and socioemotional processing with relevance to neuropsychiatric disorders. Finally, we show that common genetic loci associated with left-hemispheric pars triangularis surface area overlap with a human-gained enhancer and affect regulation of ZIC4, a gene implicated in neurogenesis. This work demonstrates how genomic investigations of present-day neuroanatomical variation can help shed light on the complexities of our evolutionary past.

Abstract

This study sought to identify tumor characteristics that associate with regional lymph node metastases in squamous cell carcinomas originating in the upper gingiva.

Abstract

The automatic retuning of phoneme categories to better adapt to the speech of a novel talker has been extensively documented across various (neurotypical) populations, including both adults and children. However, no studies have examined auditory perceptual learning effects in populations atypical in perceptual, social, and language processing for communication, such as populations with autism. Employing a classic lexically-guided perceptual learning paradigm, the present study investigated perceptual learning effects in Australian English autistic and non-autistic adults. The findings revealed that automatic attunement to existing phoneme categories was not activated in the autistic group in the same manner as for non-autistic control subjects. Specifically, autistic adults were able to both successfully discern lexical items and to categorize speech sounds; however, they did not show effects of perceptual retuning to talkers. These findings may have implications for the application of current sensory theories (e.g., Bayesian decision theory) to speech and language processing by autistic individuals.
Lay Summary

Lexically guided perceptual learning assists in the disambiguation of speech from a novel talker. The present study established that while Australian English autistic adult listeners were able to successfully discern lexical items and categorize speech sounds in their native language, perceptual flexibility in updating speaker-specific phonemic knowledge when exposed to a novel talker was not available. Implications for speech and language processing by autistic individuals as well as current sensory theories are discussed.

Abstract

The present paper assesses discourse-pragmatic factors as a potential explanation for the subject-object assymetry in early child language. It identifies a set of factors which characterize typical situations of informativeness (Greenfield & Smith, 1976), and uses these factors to identify informative arguments in data from four children aged 2;0 through 3;6 learning Inuktitut as a first language. In addition, it assesses the extent of the links between features of informativeness on one hand and lexical vs. null and subject vs. object arguments on the other. Results suggest that a pragmatics account of the subject-object asymmetry can be upheld to a greater extent than previous research indicates, and that several of the factors characterizing informativeness are good indicators of those arguments which tend to be omitted in early child language.

Abstract

Attention is a core cognitive function that filters and selects behaviourally relevant information in the environment. The cortical mapping of attentional systems identified two segregated networks that mediate stimulus-driven and goal-driven processes, the Ventral and the Dorsal Attention Networks (VAN, DAN). Deep brain electrophysiological recordings, behavioral data from phylogenetic distant species, and observations from human brain pathologies challenge purely corticocentric models. Here, we used advanced methods of functional alignment applied to resting-state functional connectivity analyses to map the subcortical architecture of the Ventral and Dorsal Attention Networks. Our investigations revealed the involvement of the pulvinar, the superior colliculi, the head of caudate nuclei, and a cluster of brainstem nuclei relevant to both networks. These nuclei are densely connected structural network hubs, as revealed by diffusion-weighted imaging tractography. Their projections establish interrelations with the acetylcholine nicotinic receptor as well as dopamine and serotonin transporters, as demonstrated in a spatial correlation analysis with a normative atlas of neurotransmitter systems. This convergence of functional, structural, and neurochemical evidence provides a comprehensive framework to understand the neural basis of attention across different species and brain diseases.

Abstract

Whilst certain verbs may appear in both the intransitive inchoative and the transitive causative constructions (The ball rolled/The man rolled the ball), others may appear in only the former (The man laughed/*The joke laughed the man). Some accounts argue that children acquire these restrictions using only (or mainly) statistical learning mechanisms such as entrenchment and pre-emption. Others have argued that verb semantics are also important. To test these competing accounts, adults (Experiment 1) and children aged 5–6 and 9–10 (Experiment 2) were taught novel verbs designed to be construed — on the basis of their semantics — as either intransitive-only or alternating. In support of the latter claim, participants' grammaticality judgments revealed that even the youngest group respected these semantic constraints. Frequency (entrenchment) effects were observed for familiar, but not novel, verbs (Experiment 1). We interpret these findings in the light of a new theoretical account designed to yield effects of both verb semantics and entrenchment/pre-emption.

Abstract

Previous studies have shown that children retreat from argument-structure overgeneralization errors (e.g., *Don’t giggle me) by inferring that frequently encountered verbs are unlikely to be grammatical in unattested constructions, and by making use of syntax-semantics correspondences (e.g., verbs denoting internally caused actions such as giggling cannot normally be used causatively). The present study tested a new account based on a unitary learning mechanism that combines both of these processes. Seventy-two participants (ages 5–6, 9–10, and adults) rated overgeneralization errors with higher (*The funny man’s joke giggled Bart) and lower (*The funny man giggled Bart) degrees of direct external causation. The errors with more-direct causation were rated as less unacceptable than those with less-direct causation. This finding is consistent with the new account, under which children acquire—in an incremental and probabilistic fashion—the meaning of particular constructions (e.g., transitive causative = direct external causation) and particular verbs, rejecting generalizations where the incompatibility between the two is too great.

Abstract

According to Crain and Nakayama (1987), when forming complex yes/no questions, children do not make errors such as Is the boy who smoking is crazy? because they have innate knowledge of structure dependence and so will not move the auxiliary from the relative clause. However, simple recurrent networks are also able to avoid such errors, on the basis of surface distributional properties of the input (Lewis & Elman, 2001; Reali & Christiansen, 2005). Two new elicited production studies revealed that (a) children occasionally produce structure-dependence errors and (b) the pattern of children's auxiliary-doubling errors (Is the boy who is smoking is crazy?) suggests a sensitivity to surface co-occurrence patterns in the input. This article concludes that current data do not provide any support for the claim that structure dependence is an innate constraint, and that it is possible that children form a structure-dependent grammar on the basis of exposure to input that exhibits this property.

Abstract

Participants (aged 5–6 yrs, 9–10 yrs and adults) rated (using a five-point scale) grammatical (intransitive) and overgeneralized (transitive causative)1 uses of a high frequency, low frequency and novel intransitive verb from each of three semantic classes [Pinker, S. (1989a). Learnability and cognition: the acquisition of argument structure. Cambridge, MA: MIT Press]: “directed motion” (fall, tumble), “going out of existence” (disappear, vanish) and “semivoluntary expression of emotion” (laugh, giggle). In support of Pinker’s semantic verb class hypothesis, participants’ preference for grammatical over overgeneralized uses of novel (and English) verbs increased between 5–6 yrs and 9–10 yrs, and was greatest for the latter class, which is associated with the lowest degree of direct external causation (the prototypical meaning of the transitive causative construction). In support of Braine and Brooks’s [Braine, M.D.S., & Brooks, P.J. (1995). Verb argument strucure and the problem of avoiding an overgeneral grammar. In M. Tomasello & W. E. Merriman (Eds.), Beyond names for things: Young children’s acquisition of verbs (pp. 352–376). Hillsdale, NJ: Erlbaum] entrenchment hypothesis, all participants showed the greatest preference for grammatical over ungrammatical uses of high frequency verbs, with this preference smaller for low frequency verbs, and smaller again for novel verbs. We conclude that both the formation of semantic verb classes and entrenchment play a role in children’s retreat from argument-structure overgeneralization errors.

Abstract

Positive and negative what, why and yes/no questions with the 3sg auxiliaries can and does were elicited from 50 children aged 3;3–4;3. In support of the constructivist “schema-combination” account, only children who produced a particular positive question type correctly (e.g., What does she want?) produced a characteristic “auxiliary-doubling” error (e.g., *What does she doesn't want?) for the corresponding negative question type. This suggests that these errors are formed by superimposing a positive question frame (e.g., What does THING PROCESS?) and an inappropriate negative frame (e.g., She doesn't PROCESS) learned from declarative utterances. In addition, a significant correlation between input frequency and correct production was observed for 11 of the 12 lexical frames (e.g., What does THING PROCESS?), although some negative question types showed higher rates of error than one might expect based on input frequency alone. Implications for constructivist and generativist theories of question-acquisition are discussed.

Abstract

It is very widely acknowledged that linguistic routines are not only embodiments of the sociocultural values of speech communities that use them, but their knowledge and appropriate use also form an essential part of a speaker's communicative/pragmatic competence. Despite this, many studies concentrate more on describing the use of routines rather than explaining the socio-cultural aspects of their meaning and the way they affect their use. It is the contention of this paper that there is the need to go beyond descriptions to explanations and explications of the use and meaning of routines that are culturally and socially revealing. This view is illustrated by a comparative analysis of functionally equivalent formulaic expressions in English and Ewe. The similarities are noted and the differences explained in terms of the socio-cultural traditions associated with the respective languages. It is argued that insights gained from such studies are valuable for crosscultural understanding and communication as well as for second language pedagogy.

Abstract

This book explores the thesis that in the Kwa languages of West Africa, aspect and modality are more central to the grammar of the verb than tense. Where tense marking has emerged it is invariably in the expression of the future, and therefore concerned with the impending actualization or potentiality of an event, hence with modality, rather than the purely temporal sequencing associated with tense. The primary grammatical contrasts are perfective versus imperfective. The main languages discussed are Akan, Dangme, Ewe, Ga and Tuwuli while Nzema-Ahanta, Likpe and Eastern Gbe are also mentioned. Knowledge about these languages has deepened considerably during the past decade or so and ideas about their structure have changed. The volume therefore presents novel analyses of grammatical forms like the so-called S-Aux-O-V-Other or “future” constructions, and provides empirical data for theorizing about aspect and modality. It should be of considerable interest to Africanist linguists, typologists, and creolists interested in substrate issues.

Abstract

This paper examines some of the claims of the Unaccusativity hypothesis.It shows that the supposedly unaccusative ‘die’ verb in Ewe (Kwa), kú can appear as both a one-place and a two-place predicate and has three senses which do not correlate with the number of surface arguments of the verb. For instance, the same sense is involved in both a one-place construction (e.g. she died) and a two-place cognate object construction (she died a wicked death). By contrast, different senses are expressed by formally identical two-place constructions, e.g. ‘the garment die dirt’ (= the garment is dead dirty; intensity) vs., ‘he died ear (to the matter)’ (=he does not want to hear; negative desiderative). The paper explores the learnability problems posed by the non-predictability of the different senses of Ewe ‘die’ from its syntactic frame and suggests that since the meanings are indirectly related to the properties of the event participants, such as animacy, a learner must pay close attention to the properties of the verb’s participants. The paper concludes by demonstrating that the meaning shifts observed in Ewe are also attested in other typologically and genetically unrelated languages such as Japanese, Arrernte (Australian), Oluta (Mixean), Dutch and English.

Abstract

Particles are little words that speakers use to signal the illocutionary force of utterances and/or express their attitude towards elements of the communicative situation, e.g. the addresses. This paper presents an overview of the classification, meaning and use of utterance particles in Ewe. It argues that they constitute a grammatical word class on functional and distributional grounds. The paper calls for a cross-cultural investigation of particles, especially in Africa, where they have been neglected for far too long.

Abstract

Previous research suggests an association of loneliness and social isolation (LNL-ISO) with schizophrenia. Here, we demonstrate a LNL-ISO polygenic score contribution to schizophrenia risk in an independent case-control sample (N = 3,488). We then subset schizophrenia predisposing variation based on its effect on LNL-ISO. We find that genetic variation with concordant effects in both phenotypes shows significant SNP-based heritability enrichment, higher polygenic contribution in females, and positive covariance with mental disorders such as depression, anxiety, attention-deficit hyperactivity disorder, alcohol dependence, and autism. Conversely, genetic variation with discordant effects only contributes to schizophrenia risk in males and is negatively correlated with those disorders. Mendelian randomization analyses demonstrate a plausible bi-directional causal relationship between LNL-ISO and schizophrenia, with a greater effect of LNL-ISO liability on schizophrenia than vice versa. These results illustrate the genetic footprint of LNL-ISO on schizophrenia.

Abstract

ARHGEF39 was previously implicated in developmental language disorder (DLD) via a functional polymorphism that can disrupt post-transcriptional regulation by microRNAs. ARHGEF39 is part of the family of Rho guanine nucleotide exchange factors (RhoGEFs) that activate small Rho GTPases to regulate a wide variety of cellular processes. However, little is known about the function of ARHGEF39, or how its function might contribute to neurodevelopment or related disorders. Here, we explore the molecular function of ARHGEF39 and show that it activates the Rho GTPase RHOA and that high ARHGEF39 expression in cell cultures leads to an increase of detached cells. To explore its role in neurodevelopment, we analyse published single cell RNA-sequencing data and demonstrate that ARHGEF39 is a marker gene for proliferating neural progenitor cells and that it is co-expressed with genes involved in cell division. This suggests a role for ARHGEF39 in neurogenesis in the developing brain. The co-expression of ARHGEF39 with other RHOA-regulating genes supports RHOA as substrate of ARHGEF39 in neural cells, and the involvement of RHOA in neuropsychiatric disorders highlights a potential link between ARHGEF39 and neurodevelopment and disorder. Understanding the GTPase substrate, co-expression network, and processes downstream of ARHGEF39 provide new avenues for exploring the mechanisms by which altered expression levels of ARHGEF39 may contribute to neurodevelopment and associated disorders.

Abstract

The current study investigated which time components of rapid automatized naming (RAN) predict group differences between dyslexic and non-dyslexic readers (matched for age and reading level), and how these components relate to different reading measures. Subjects performed two RAN tasks (letters and objects), and data were analyzed through a response time analysis. Our results demonstrated that impaired RAN performance in dyslexic readers mainly stem from enhanced inter-item pause times and not from difficulties at the level of post-access motor production (expressed as articulation rates). Moreover, inter-item pause times account for a significant proportion of variance in reading ability in addition to the effect of phonological awareness in the dyslexic group. This suggests that non-phonological factors may lie at the root of the association between RAN inter-item pauses and reading ability. In normal readers, RAN performance was associated with reading ability only at early ages (i.e. in the reading-matched controls), and again it was the RAN inter-item pause times that explain the association.

Abstract

In the present study, the authors investigate how some visual factors related to early stages of visual-object naming modulate naming performance in dyslexia. The performance of dyslexic children was compared with 2 control groups—normal readers matched for age and normal readers matched for reading level—while performing a discrete naming task in which color and dimensionality of the visually presented objects were manipulated. The results showed that 2-dimensional naming performance improved for color representations in control readers but not in dyslexics. In contrast to control readers, dyslexics were also insensitive to the stimulus's dimensionality. These findings are unlikely to be explained by a phonological processing problem related to phonological access or retrieval but suggest that dyslexics have a lower capacity for coding and decoding visual surface features of 2-dimensional representations or problems with the integration of visual information stored in long-term memory.

Abstract

This article summarizes some of the important findings from research evaluating the relationship between poor rapid naming and impaired reading performance. Substantial evidence shows that dyslexic readers have problems with rapid naming of visual items. Early research assumed that this was a consequence of phonological processing deficits, but recent findings suggest that non-phonological processes may lie at the root of the association between slow naming speed and poor reading. The hypothesis that rapid naming reflects an independent core deficit in dyslexia is supported by the main findings: (1) some dyslexics are characterized by rapid naming difficulties but intact phonological skills; (2) evidence for an independent association between rapid naming and reading competence in the dyslexic readers, when the effect of phonological skills was controlled; (3) rapid naming and phonological processing measures are not reliably correlated. Recent research also reveals greater predictive power of rapid naming, in particular the inter-item pause time, for high-frequency word reading compared to pseudoword reading in developmental dyslexia. Altogether, the results are more consistent with the view that a phonological component alone cannot account for the rapid naming performance in dyslexia. Rather, rapid naming problems may emerge from the inefficiencies in visual-orthographic processing as well as in phonological processing.

Abstract

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.

Abstract

Two experiments examined the nature of the phonological representations used during visual word recognition. We tested whether a minimality constraint (R. Frost, 1998) limits the complexity of early representations to a simple string of phonemes. Alternatively, readers might activate elaborated representations that include prosodic syllable information before lexical access. In a modified lexical decision task (Experiment 1), words were preceded by parafoveal previews that were congruent with a target's initial syllable as well as previews that contained 1 letter more or less than the initial syllable. Lexical decision times were faster in the syllable congruent conditions than in the incongruent conditions. In Experiment 2, we recorded brain electrical potentials (electroencephalograms) during single word reading in a masked priming paradigm. The event-related potential waveform elicited in the syllable congruent condition was more positive 250-350 ms posttarget compared with the waveform elicited in the syllable incongruent condition. In combination, these experiments demonstrate that readers process prosodic syllable information early in visual word recognition in English. They offer further evidence that skilled readers routinely activate elaborated, speechlike phonological representations during silent reading. (PsycINFO Database Record (c) 2016 APA, all rights reserved)

Abstract

The efficacy of cardiac repair by stem cell administration relies on a successful functional integration of injected cells into the host myocardium. Safety concerns have been raised about the possibility that stem cells may induce foci of arrhythmia in the ischemic myocardium. In a previous work (36), we showed that human cord blood CD34+ cells, when cocultured on neonatal mouse cardiomyocytes, exhibit excitation-contraction coupling features similar to those of cardiomyocytes, even though no human genes were upregulated. The aims of the present work are to investigate whether human CD34+ cells, isolated after 1 wk of coculture with neonatal ventricular myocytes, possess molecular and functional properties of cardiomyocytes and to discriminate, using a reporter gene system, whether cardiac differentiation derives from a (trans)differentiation or a cell fusion process. Umbilical cord blood CD34+ cells were isolated by a magnetic cell sorting method, transduced with a lentiviral vector carrying the enhanced green fluorescent protein (EGFP) gene, and seeded onto primary cultures of spontaneously beating rat neonatal cardiomyocytes. Cocultured EGFP+/CD34+-derived cells were analyzed for their electrophysiological features at different time points. After 1 wk in coculture, EGFP+ cells, in contact with cardiomyocytes, were spontaneously contracting and had a maximum diastolic potential (MDP) of −53.1 mV, while those that remained isolated from the surrounding myocytes did not contract and had a depolarized resting potential of −11.4 mV. Cells were then resuspended and cultured at low density to identify EGFP+ progenitor cell derivatives. Under these conditions, we observed single EGFP+ beating cells that had acquired an hyperpolarization-activated current typical of neonatal cardiomyocytes (EGFP+ cells, −2.24 ± 0.89 pA/pF; myocytes, −1.99 ± 0.63 pA/pF, at −125 mV). To discriminate between cell autonomous differentiation and fusion, EGFP+/CD34+ cells were cocultured with cardiac myocytes infected with a red fluorescence protein-lentiviral vector; under these conditions we found that 100% of EGFP+ cells were also red fluorescent protein positive, suggesting cell fusion as the mechanism by which cardiac functional features are acquired.

Abstract

This paper provides an introduction to mixed-effects models for the analysis of repeated measurement data with subjects and items as crossed random effects. A worked-out example of how to use recent software for mixed-effects modeling is provided. Simulation studies illustrate the advantages offered by mixed-effects analyses compared to traditional analyses based on quasi-F tests, by-subjects analyses, combined by-subjects and by-items analyses, and random regression. Applications and possibilities across a range of domains of inquiry are discussed.

Abstract

While syntactic reanalysis has been extensively investigated in psycholinguistics, comparatively little is known about reanalysis in the semantic domain. We used event-related brain potentials (ERPs) to keep track of semantic processes involved in understanding short narratives such as ‘The girl was writing a letter when her friend spilled coffee on the paper’. We hypothesize that these sentences are interpreted in two steps: (1) when the progressive clause is processed, a discourse model is computed in which the goal state (a complete letter) is predicted to hold; (2) when the subordinate clause is processed, the initial representation is recomputed to the effect that, in the final discourse structure, the goal state is not satisfied. Critical sentences evoked larger sustained anterior negativities (SANs) compared to controls, starting around 400 ms following the onset of the sentence-final word, and lasting for about 400 ms. The amplitude of the SAN was correlated with the frequency with which participants, in an offline probe-selection task, responded that the goal state was not attained. Our results raise the possibility that the brain supports some form of non-monotonic recomputation to integrate information which invalidates previously held assumptions.

Abstract

At least three cognitive brain components are necessary in order for us to be able to produce and comprehend language: a Memory repository for the lexicon, a Unification buffer where lexical information is combined into novel structures, and a Control apparatus presiding over executive function in language. Here we describe the brain networks that support Memory and Unification in semantics. A dynamic account of their interactions is presented, in which a balance between the two components is sought at each word-processing step. We use the theory to provide an explanation of the N400 effect.

Abstract

This study provides evidence for the role of semantic composition in compound word processing. We examined the online processing of isolated two meaning unit compounds in Chinese, a language that uses compounding to ‘disambiguate’ meaning. Using auditory presentation, we manipulated the semantic meaning and syntactic category of the two meaning units forming a compound. Event-related brain potential-recordings revealed a significant influence of semantic information, which was reflected in an N400 signature for compounds whose meaning differed from the constituent meanings. This finding suggests that the combination of distinct constituent meanings to form an overall compound meaning consumes processing resources. By contrast, no comparable difference was observed based on syntactic category information. Our findings indicate that combinatory semantic processing at the word level correlates with N400 effects.

Abstract

Human language stands out in the natural world as a biological signal that uses a structured system to combine the meanings of small linguistic units (e.g., words) into larger constituents (e.g., phrases and sentences). However, the physical dynamics of speech (or sign) do not stand in a one-to-one relationship with the meanings listeners perceive. Instead, listeners infer meaning based on their knowledge of the language. The neural readouts of the perceptual and cognitive processes underlying these inferences are still poorly understood. In the present study, we used scalp electroencephalography (EEG) to compare the neural response to phrases (e.g., the red vase) and sentences (e.g., the vase is red), which were close in semantic meaning and had been synthesized to be physically indistinguishable. Differences in structure were well captured in the reorganization of neural phase responses in delta (approximately <2 Hz) and theta bands (approximately 2 to 7 Hz),and in power and power connectivity changes in the alpha band (approximately 7.5 to 13.5 Hz). Consistent with predictions from a computational model, sentences showed more power, more power connectivity, and more phase synchronization than phrases did. Theta–gamma phase–amplitude coupling occurred, but did not differ between the syntactic structures. Spectral–temporal response function (STRF) modeling revealed different encoding states for phrases and sentences, over and above the acoustically driven neural response. Our findings provide a comprehensive description of how the brain encodes and separates linguistic structures in the dynamics of neural responses. They imply that phase synchronization and strength of connectivity are readouts for the constituent structure of language. The results provide a novel basis for future neurophysiological research on linguistic structure representation in the brain, and, together with our simulations, support time-based binding as a mechanism of structure encoding in neural dynamics.

Abstract

Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and sterotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum lod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.

Abstract

Mouthings and mouth gestures are omnipresent in Sign Language of the Netherlands (NGT). Mouthings in NGT commonly have their origin in spoken Dutch. We conducted a corpus study to explore how frequent mouthings in fact are in NGT, whether there is variation within and between signs in mouthings, and how frequent temporal reduction occurs in mouthings. Answers to these questions can help us classify mouthings as being specified in the sign lexicon or as being instances of code-blending. We investigated a sample of 20 frequently occurring signs. We found that each sign in the sample co-occurs frequently with a mouthing, usually that of a specific Dutch lexical item. On the other hand, signs show variation in the way they co-occur with mouthings and mouth gestures. By using a relatively large amount of natural data, we succeeded in gaining more insight into the way mouth actions are utilized in sign languages.

Abstract

In conversation, listeners frequently encounter speakers with foreign accents. Previous research on foreign-accented speech has primarily examined the short-term effects of exposure and the relative ease that listeners have with adapting to an accent. The present study examines the stability of this adaptation, with seven full days between testing sessions. On both days, subjects performed a cross-modal priming task in which they heard several minutes of an unfamiliar accent of their native language: a form of Hebrewaccented Dutch in which long /i:/ was shortened to /I/. During this task on Day 1, recognition of accented forms was not facilitated, compared to that of canonical forms. A week later, when tested on new words, facilitatory priming occurred, comparable to that seen for canonically produced items tested in both sessions. These results suggest that accented forms can be learned from brief exposure and the stable effects of this can be seen a week later.

Abstract

Dit artikel is de inleiding op het direct hierna volgende (Oonk e.a. 2022) waar een nieuw praktijkmodel over het ontstaan en ontwikkeling van stotteren wordt voorgesteld.

In de dagelijkse praktijk van vooral Nederlandstalige logopedisten (-stottertherapeuten) is tot nu toe veel gebruik gemaakt van het klinische werkmodel van Bertens (1994; 2017). Dit model gaat uit van een primaire neuromusculaire timingsstoornis, welke zich niet alleen uit in het spreken, maar ook in algemene zin aanwezig is. Dit model echter, is aan revisie toe. Volgens de recente literatuur is de algemene aard van die timingstoornis niet bewezen, en zijn er veel vroegere (meer primaire) factoren aantoonbaar van belang bij het ontstaan van stotteren, met name in de genetica en in de neurologie. In dit artikel wordt deze literatuur kort samengevat, alsmede worden enkele recente modellen omschreven. Met name regulatie en terugkoppeling krijgen in recente modellen meer aandacht. Er is geen volledigheid nagestreefd, maar dit artikel is meer een tutoriale opmaat voor het hierna te presenteren model.
(This article serves as an introduction to the accompanying paper, in which a new clinical
model of the origin and development of stuttering is presented (Oonk e.a., 2022).
In their clinical practice, Dutch speech language pathologists still tend to use the
clinical model proposed by Bertens (1994; 2017). This model explains stuttering as de-
veloping from a primary neuromuscular timing deficit, which manifests itself not only
in speech, but in more general behaviour as well. In our opinion, this model needs to be
updated and revised based on current scientific and clinical knowledge. There is littleevidence for the general timing deficit in Bertens’ model and, moreover, several more
fundamental factors, especially those related to genetics and neural processes, that have
an important role in the onset of stuttering have been reported. This paper provides a
review and summary of these recent data, and several newer models are described. An
important aspect of these models is the importance given to processes of regulation
and feedback. An exhaustive overview of the existing literature has not been strived for
but it is hoped that this paper will serve as a useful introduction to the clinical model
presented in the accompanying paper.)

Abstract

Objectives: Our neurophysiological model of anticipatory behaviour (e.g. Acta Psychol 101 (1999) 213; Bastiaansen et al., 1999a) predicts an activation of (primary) sensory cortex during anticipatory attention for an upcoming stimulus. In this paper we attempt to demonstrate this by means of event-related desynchronization (ERD). Methods: Five subjects performed a time estimation task, and were informed about the quality of their time estimation by either visual or auditory stimuli providing Knowledge of Results (KR). EEG and MEG were recorded in separate sessions, and ERD was computed in the 8± 10 and 10±12 Hz frequency bands for both datasets. Results: Both in the EEG and the MEG we found an occipitally maximal ERD preceding the visual KR for all subjects. Preceding the auditory KR, no ERD was present in the EEG, whereas in the MEG we found an ERD over the temporal cortex in two of the 5 subjects. These subjects were also found to have higher levels of absolute power over temporal recording sites in the MEG than the other subjects, which we consider to be an indication of the presence of a `tau' rhythm (e.g. Neurosci Lett 222 (1997) 111). Conclusions: It is concluded that the results are in line with the predictions of our neurophysiological model.

Abstract

This paper addresses the question of whether anticipatory attention - i.e. attention directed towards an upcoming stimulus in order to facilitate its processing - is realized at the neurophysiological level by a pre-stimulus desynchronization of the sensory cortex corresponding to the modality of the anticipated stimulus, reflecting then opening of a thalamocortical gate in the relevant sensory modality. It is argued that a technique called Event-Related Desynchronization (ERD) of rhythmic 10-Hz activity is well suited to study the thalamocortical processes that are thought to mediate anticipatory attention. In a series of experiments, ERD was computed on EEG and MEG data, recorded while subjects performed a time estimation task and were informed about the quality of their time estimation by stimuli providing Knowledge of Results (KR). The modality of the KR stimuli (auditory, visual, or somatosensory) was manipulated both within and between experiments. The results indicate to varying degrees that preceding the presentation of the KR stimuli, ERD is present over the sensory cortex, which corresponds to the modality of the KR stimulus. The general pattern of results supports the notion that a thalamocortical gating mechanism forms the neurophysiological basis of anticipatory attention. Furthermore, the results support the notion that Event-Related Potential(ERP) and ERD measures reflect fundamentally different neurophysiological processes.

Abstract

An influential hypothesis regarding the neural basis of the mental lexicon is that semantic representations are neurally implemented as distributed networks carrying sensory, motor and/or more abstract functional information. This work investigates whether the semantic properties of words partly determine the topography of such networks. Subjects performed a visual lexical decision task while their EEG was recorded. We compared the EEG responses to nouns with either visual semantic properties (VIS, referring to colors and shapes) or with auditory semantic properties (AUD, referring to sounds). A time–frequency analysis of the EEG revealed power increases in the theta (4–7 Hz) and lower-beta (13–18 Hz) frequency bands, and an early power increase and subsequent decrease for the alpha (8–12 Hz) band. In the theta band we observed a double dissociation: temporal electrodes showed larger theta power increases in the AUD condition, while occipital leads showed larger theta responses in the VIS condition. The results support the notion that semantic representations are stored in functional networks with a topography that reflects the semantic properties of the stored items, and provide further evidence that oscillatory brain dynamics in the theta frequency range are functionally related to the retrieval of lexical semantic information.

Abstract

The Romance counting system is numerical – with residues of earlier systems whereby each commodity had its own unit of quantification – and decimal. Numeral formations beyond ‘10’ are compounds, combining two or more numerals that are in an arithmetical relation, typically that of addition and multiplication. Formal variation across the (standard) Romance languages and dialects and across historical stages involves the relative sequence of the composing elements, absence or presence of connectors, their synthetic vs. analytic nature, and the degree of grammatical marking. A number of ‘deviant’ numeral formations raise the question of borrowing vs independent development, such as vigesimals (featuring a base ‘20’ instead ‘10’) in certain Romance varieties and the teen and decad formations in Romanian. The other types of numeral in Romance, which derive from the unmarked and consistent cardinals, feature a significantly higher degree of formal complexity and variation involving Latin formants and tend toward analyticity. While Latin features prominently in the Romance counting system as a source of numeral formations and suffixes, it is only in Romance that the inherited decimal system reached its full potential, illustrating its increasing prominence, reflected not only in numerals, but also in language acquisition, sign language, and post-Revolution measuring systems.

Abstract

Moores, Laiti, and Chelazzi (2003) found semantic interference from associate competitors during visual object search, demonstrating the existence of top-down semantic influences on the deployment of attention to objects. We examined whether effects of semantically related competitors (same-category members or associates) interacted with the effects of perceptual or cognitive load. We failed to find any interaction between competitor effects and perceptual load. However, the competitor effects increased significantly when participants were asked to retain one or five digits in memory throughout the search task. Analyses of eye movements and viewing times showed that a cognitive load did not affect the initial allocation of attention but rather the time it took participants to accept or reject an object as the target. We discuss the implications of our findings for theories of conceptual short-term memory and visual attention.

Abstract

We utilized the N400 effect to investigate the influence of speech register on predictive language processing. Participants listened to long stretches (4 – 15 min) of naturalistic speech from different registers (dialogues, news broadcasts, and read-aloud books), totalling approximately 50,000 words, while the EEG signal was recorded. We estimated the surprisal of words in the speech materials with the aid of a statistical language model in such a manner that it reflected different predictive processing strategies; generic, register-specific, or recency-based. The N400 amplitude was best predicted with register-specific word surprisal, indicating that the statistics of the wider context (i.e., register) influences predictive language processing. Furthermore, adaptation to speech register cannot merely be explained by recency effects; instead, listeners adapt their word anticipations to the presented speech register.

Abstract

This paper deals with clients' personal narratives in psychotherapy. Using the method of conversation analysis, we focus on actions and tasks accomplished through clients' narratives. We identify, within the overall structural organization of therapeutic talk in our corpus, two different sequential placements of clients' narratives and describe some of their distinctive features. When they are placed within an inquiry phase of the session and are solicited by therapists' questions, the clients' narratives mainly provide information for therapists in the service of their inquiring agenda. When placed within an elaboration phase of the session, personal narratives are regularly volunteered by clients and produced as responses to therapists' reinterpretations, i.e., statements working up clients' circumstances as previously described by clients. In this latter placement, they mainly offer further evidence relevant to the therapists' reinterpretations, and thus show how clients understand therapists' reinterpretations and what they make of them. The import of these findings, for both an explication of therapeutic techniques and a better understanding of the therapeutic process, is also discussed.

Abstract

Older children with online schooling requirements, unsurprisingly, were reported to have increased screen time during the first COVID-19 lockdown in many countries. Here, we ask whether younger children with no similar online schooling requirements also had increased screen time during lockdown. We examined children’s screen time during the first COVID-19 lockdown in a large cohort (n = 2209) of 8-to-36-month-olds sampled from 15 labs across 12 countries. Caregivers reported that toddlers with no online schooling requirements were exposed to more screen time during lockdown than before lockdown. While this was exacerbated for countries with longer lockdowns, there was no evidence that the increase in screen time during lockdown was associated with socio-demographic variables, such as child age and socio-economic status (SES). However, screen time during lockdown was negatively associated with SES and positively associated with child age, caregiver screen time, and attitudes towards children’s screen time. The results highlight the impact of the COVID-19 lockdown on young children’s screen time.

Abstract

In the present paper we investigate the effect of categorising raw behavioural data or computational model responses. In addition, the effect of averaging over stimuli from potentially different populations is assessed. To this end, we replicate studies on word learning and generalisation abilities using the ACORNS models. Our results show that discrete categories may obscure interesting phenomena in the continuous responses. For example, the finding that learning in the model saturates very early at a uniform high recognition accuracy only holds for categorical representations. Additionally, a large difference in the accuracy for individual words is obscured by averaging over all stimuli. Because different words behaved differently for different speakers, we could not identify a phonetic basis for the differences. Implications and new predictions for infant behaviour are discussed.

Abstract

In the present paper we investigate the effect of categorising raw behavioural data or computational model responses. In addition, the effect of averaging over stimuli from potentially different populations is assessed. To this end, we replicate studies on word learning and generalisation abilities using the ACORNS models. Our results show that discrete
categories may obscure interesting phenomena in the continuous
responses. For example, the finding that learning in the model saturates very early at a uniform high recognition accuracy only holds for categorical representations. Additionally, a large difference in the accuracy for individual words is obscured
by averaging over all stimuli. Because different words behaved
differently for different speakers, we could not identify a phonetic
basis for the differences. Implications and new predictions for
infant behaviour are discussed.

Abstract

Twin studies indicate that additive genetic effects explain most of the variance in nicotine dependence (ND), a construct emphasizing habitual heavy smoking despite adverse consequences, tolerance and withdrawal. To detect ND alleles, we assessed cigarettes per day (CPD) regularly smoked, in two European populations via whole genome association techniques. In these approximately 7500 persons, a common haplotype in the CHRNA3-CHRNA5 nicotinic receptor subunit gene cluster was associated with CPD (nominal P=6.9 x 10(-5)). In a third set of European populations (n= approximately 7500) which had been genotyped for approximately 6000 SNPs in approximately 2000 genes, an allele in the same haplotype was associated with CPD (nominal P=2.6 x 10(-6)). These results (in three independent populations of European origin, totaling approximately 15 000 individuals) suggest that a common haplotype in the CHRNA5/CHRNA3 gene cluster on chromosome 15 contains alleles, which predispose to ND.

Abstract

Psycholinguistic studies of metaphor processing must control their stimuli not just for word frequency but also for the frequency with which a term is used metaphorically. Thus, we consider the task of metaphor frequency estimation, which predicts how often target words will be used metaphorically. We develop metaphor classifiers which represent metaphorical domains through Latent Dirichlet Allocation, and apply these classifiers to the target words, aggregating their decisions to estimate the metaphorical frequencies. Training on only 400 sentences, our models are able to achieve 61.3 % accuracy on metaphor classification and 77.8 % accuracy on HIGH vs. LOW metaphorical frequency estimation.

Abstract

In two experiments, we studied the role of frequency information in the production of deverbal adjectives and inflected verbs in Dutch. Naming latencies were triggered in a position-response association task and analysed using stepwise mixed-effects modelling, with subject and word as crossed random effects. The production latency of deverbal adjectives was affected by the cumulative frequencies of their verbal stems, arguing for decomposition and against full listing. However, for the inflected verbs, there was an inhibitory effect of Inflectional Entropy, and a nonlinear effect of Lemma Frequency. Additional effects of Position-specific Neighbourhood Density and Cohort Entropy in both types of words underline the importance of paradigmatic relations in the mental lexicon. Taken together, the data suggest that the word-form level does neither contain full forms nor strictly separated morphemes, but rather morphemes with links to phonologically andin case of inflected verbsmorphologically related word forms.

Abstract

Aesthetic chills, broadly defined as a somatic marker of peak emotional-hedonic responses, are experienced by individuals across a variety of human cultures. Yet individuals vary widely in the propensity of feeling them. These individual differences have been studied in relation to demographics, personality, and neurobiological and physiological factors, but no study to date has explored the genetic etiological sources of variation. To partition genetic and environmental sources of variation in the propensity of feeling aesthetic chills, we fitted a biometrical genetic model to data from 14127 twins (from 8995 pairs), collected by the Netherlands Twin Register. Both genetic and unique environmental factors accounted for variance in aesthetic chills, with heritability estimated at .36 ([.33, .39] 95% CI). We found females more prone than males to report feeling aesthetic chills. However, a test for genotype x sex interaction did not show evidence that heritability differs between sexes. We thus show that the propensity of feeling aesthetic chills is not shaped by nurture alone, but it also reflects underlying genetic propensities.Competing Interest StatementThe authors have declared no competing interest.

Abstract

Human voices play a fundamental role in social communication, and areas of the adult ‘social brain’ show specialization for processing voices and its emotional content (superior temporal sulcus - STS, inferior prefrontal cortex, premotor cortical regions, amygdala and insula [1-8]. However, it is unclear when this specialization develops. Functional magnetic resonance (fMRI) studies suggest the infant temporal cortex does not differentiate speech from music or backward speech [10, 11], but a prior study with functional near infrared spectroscopy revealed preferential activation for human voices in 7-month-olds, in a more posterior location of the temporal cortex than in adults [12]. Yet, the brain networks involved in processing non-speech human vocalizations in early development are still unknown. For this purpose, in the present fMRI study, 3 to 7 month olds were presented with adult non-speech vocalizations (emotionally neutral, emotionally positive and emotionally negative), and non-vocal environmental sounds. Infants displayed significant activation in the anterior portion of the temporal cortex, similarly to adults [1]. Moreover, sad vocalizations modulated the activity of brain regions known to be involved in processing affective stimuli such as the orbitofrontal cortex [13] and insula [7, 8]. These results suggest remarkably early functional specialization for processing human voice and negative emotions.

Abstract

Although many studies have investigated the activation of perceptual representations during language comprehension, to our knowledge only one previous study has directly tested how perceptual features are combined into representations during comprehension. In their classic study, Potter and Faulconer [(1979). Understanding noun phrases. Journal of Verbal Learning and Verbal Behavior, 18, 509–521.] investigated the perceptual representation of adjective-noun combinations. However, their non-orthogonal design did not allow the differentiation between conjunctive vs. disjunctive representations. Using randomized orthogonal designs, we observe evidence for disjunctive perceptual representations when participants represent feature combinations simultaneously (in several experiments; N = 469), and we observe evidence for conjunctive perceptual representations when participants represent feature combinations sequentially (In several experiments; N = 628). Our findings show that the generation of conjunctive representations during comprehension depends on the concatenation of linguistic cues, and thus suggest the construction of elaborate perceptual representations may critically depend on language.

Abstract

In English, words like scissors are grammatically plural but conceptually singular, while words like suds are both grammatically and conceptually plural. Words like army can be construed plurally, despite being grammatically singular. To explore whether and how congruence between grammatical and conceptual number affected the production of subject-verb number agreement in English, we elicited sentence completions for complex subject noun phrases like The advertisement for the scissors. In these phrases, singular subject nouns were followed by distractor words whose grammatical and conceptual numbers varied. The incidence of plural attraction (the use of plural verbs after plural distractors) increased only when distractors were grammatically plural, and revealed no influence from the distractors' number meanings. Companion experiments in Dutch offered converging support for this account and suggested that similar agreement processes operate in that language. The findings argue for a component of agreement that is sensitive primarily to the grammatical reflections of number. Together with other results, the evidence indicates that the implementation of agreement in languages like English and Dutch involves separable processes of number marking and number morphing, in which number meaning plays different parts.

Abstract

Purpose

Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants.
Methods

We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments.
Results

We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity.
Conclusion

Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.