Publications

Displaying 1 - 100 of 1538
  • Aarts, E. (2009). Resisting temptation: The role of the anterior cingulate cortex in adjusting cognitive control. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Abdel Rahman, R., Van Turennout, M., & Levelt, W. J. M. (2003). Phonological encoding is not contingent on semantic feature retrieval: An electrophysiological study on object naming. Journal of Experimental Psychology: Learning, Memory, and Cognition, 29(5), 850-860. doi:10.1037/0278-7393.29.5.850.

    Abstract

    In the present study, the authors examined with event-related brain potentials whether phonological encoding in picture naming is mediated by basic semantic feature retrieval or proceeds independently. In a manual 2-choice go/no-go task the choice response depended on a semantic classification (animal vs. object) and the execution decision was contingent on a classification of name phonology (vowel vs. consonant). The introduction of a semantic task mixing procedure allowed for selectively manipulating the speed of semantic feature retrieval. Serial and parallel models were tested on the basis of their differential predictions for the effect of this manipulation on the lateralized readiness potential and N200 component. The findings indicate that phonological code retrieval is not strictly contingent on prior basic semantic feature processing.
  • Abdel Rahman, R., & Sommer, W. (2003). Does phonological encoding in speech production always follow the retrieval of semantic knowledge?: Electrophysiological evidence for parallel processing. Cognitive Brain Research, 16(3), 372-382. doi:10.1016/S0926-6410(02)00305-1.

    Abstract

    In this article a new approach to the distinction between serial/contingent and parallel/independent processing in the human cognitive system is applied to semantic knowledge retrieval and phonological encoding of the word form in picture naming. In two-choice go/nogo tasks pictures of objects were manually classified on the basis of semantic and phonological information. An additional manipulation of the duration of the faster and presumably mediating process (semantic retrieval) allowed to derive differential predictions from the two alternative models. These predictions were tested with two event-related brain potentials (ERPs), the lateralized readiness potential (LRP) and the N200. The findings indicate that phonological encoding can proceed in parallel to the retrieval of semantic features. A suggestion is made how to accommodate these findings with models of speech production.
  • Acheson, D. J., & MacDonald, M. C. (2009). Twisting tongues and memories: Explorations of the relationship between language production and verbal working memory. Journal of Memory and Language, 60(3), 329-350. doi:10.1016/j.jml.2008.12.002.

    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.
  • Acheson, D. J., & MacDonald, M. C. (2009). Verbal working memory and language production: Common approaches to the serial ordering of verbal information. Psychological Bulletin, 135(1), 50-68. doi:10.1037/a0014411.

    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.
  • Adank, P., Smits, R., & Van Hout, R. (2003). Modeling perceived vowel height, advancement, and rounding. In Proceedings of the 15th International Congress of Phonetic Sciences (ICPhS 2003) (pp. 647-650). Adelaide: Causal Productions.
  • Adank, P., & Janse, E. (2009). Perceptual learning of time-compressed and natural fast speech. Journal of the Acoustical Society of America, 126(5), 2649-2659. doi:10.1121/1.3216914.

    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.
  • Ahn, D., Abbott, M. J., Rayner, K., Ferreira, V. S., & Gollan, T. H. (2020). Minimal overlap in language control across production and comprehension: Evidence from read-aloud versus eye-tracking tasks. Journal of Neurolinguistics, 54: 100885. doi:10.1016/j.jneuroling.2019.100885.

    Abstract

    Bilinguals are remarkable at language control—switching between languages only when they want. However, language control in production can involve switch costs. That is, switching to another language takes longer than staying in the same language. Moreover, bilinguals sometimes produce language intrusion errors, mistakenly producing words in an unintended language (e.g., Spanish–English bilinguals saying “pero” instead of “but”). Switch costs are also found in comprehension. For example, reading times are longer when bilinguals read sentences with language switches compared to sentences with no language switches. Given that both production and comprehension involve switch costs, some language–control mechanisms might be shared across modalities. To test this, we compared language switch costs found in eye–movement measures during silent sentence reading (comprehension) and intrusion errors produced when reading aloud switched words in mixed–language paragraphs (production). Bilinguals who made more intrusion errors during the read–aloud task did not show different switch cost patterns in most measures in the silent–reading task, except on skipping rates. We suggest that language switching is mostly controlled by separate, modality–specific processes in production and comprehension, although some points of overlap might indicate the role of domain general control and how it can influence individual differences in bilingual language control.
  • Akamine, S., Kohatsu, T., Niikuni, K., Schafer, A. J., & Sato, M. (2022). Emotions in language processing: Affective priming in embodied cognition. In Proceedings of the 39th Annual Meeting of Japanese Cognitive Science Society (pp. 326-332). Tokyo: Japanese Cognitive Science Society.
  • Akeret, K., Forkel, S. J., Buzzi, R. M., Vasella, F., Amrein, I., Colacicco, G., Regli, L., Serra, C., & Krayenbühl, N. (2022). Multimodal anatomy of the human forniceal commissure. Communications Biology, 5: 742. doi:10.1038/s42003-022-03692-3.

    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.

    Additional information

    supplementary material
  • Akker, E., & Cutler, A. (2003). Prosodic cues to semantic structure in native and nonnative listening. Bilingualism: Language and Cognition, 6(2), 81-96. doi:10.1017/S1366728903001056.

    Abstract

    Listeners efficiently exploit sentence prosody to direct attention to words bearing sentence accent. This effect has been explained as a search for focus, furthering rapid apprehension of semantic structure. A first experiment supported this explanation: English listeners detected phoneme targets in sentences more rapidly when the target-bearing words were in accented position or in focussed position, but the two effects interacted, consistent with the claim that the effects serve a common cause. In a second experiment a similar asymmetry was observed with Dutch listeners and Dutch sentences. In a third and a fourth experiment, proficient Dutch users of English heard English sentences; here, however, the two effects did not interact. The results suggest that less efficient mapping of prosody to semantics may be one way in which nonnative listening fails to equal native listening.
  • Alagöz, G., Molz, B., Eising, E., Schijven, D., Francks, C., Jason L., S., & Fisher, S. E. (2022). Using neuroimaging genomics to investigate the evolution of human brain structure. Proceedings of the National Academy of Sciences of the United States of America, 119(40): e2200638119. doi:10.1073/pnas.2200638119.

    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.

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    supplementary information
  • Alario, F.-X., Schiller, N. O., Domoto-Reilly, K., & Caramazza, A. (2003). The role of phonological and orthographic information in lexical selection. Brain and Language, 84(3), 372-398. doi:10.1016/S0093-934X(02)00556-4.

    Abstract

    We report the performance of two patients with lexico-semantic deficits following left MCA CVA. Both patients produce similar numbers of semantic paraphasias in naming tasks, but presented one crucial difference: grapheme-to-phoneme and phoneme-to-grapheme conversion procedures were available only to one of them. We investigated the impact of this availability on the process of lexical selection during word production. The patient for whom conversion procedures were not operational produced semantic errors in transcoding tasks such as reading and writing to dictation; furthermore, when asked to name a given picture in multiple output modalities—e.g., to say the name of a picture and immediately after to write it down—he produced lexically inconsistent responses. By contrast, the patient for whom conversion procedures were available did not produce semantic errors in transcoding tasks and did not produce lexically inconsistent responses in multiple picture-naming tasks. These observations are interpreted in the context of the summation hypothesis (Hillis & Caramazza, 1991), according to which the activation of lexical entries for production would be made on the basis of semantic information and, when available, on the basis of form-specific information. The implementation of this hypothesis in models of lexical access is discussed in detail.
  • Alcock, K., Meints, K., & Rowland, C. F. (2020). The UK communicative development inventories: Words and gestures. Guilford, UK: J&R Press Ltd.
  • Aldosimani, M., Verdonschot, R. G., Iwamoto, Y., Nakazawa, M., Mallya, S. M., Kakimoto, N., Toyosawa, S., Kreiborg, S., & Murakami, S. (2022). Prognostic factors for lymph node metastasis from upper gingival carcinomas. Oral Radiology, 38(3), 389-396. doi:10.1007/s11282-021-00568-w.

    Abstract

    This study sought to identify tumor characteristics that associate with regional lymph node metastases in squamous cell carcinomas originating in the upper gingiva.
  • Alhama, R. G., Rowland, C. F., & Kidd, E. (2020). Evaluating word embeddings for language acquisition. In E. Chersoni, C. Jacobs, Y. Oseki, L. Prévot, & E. Santus (Eds.), Proceedings of the Workshop on Cognitive Modeling and Computational Linguistics (pp. 38-42). Stroudsburg, PA, USA: Association for Computational Linguistics (ACL). doi:10.18653/v1/2020.cmcl-1.4.

    Abstract

    Continuous vector word representations (or
    word embeddings) have shown success in cap-turing semantic relations between words, as evidenced by evaluation against behavioral data of adult performance on semantic tasks (Pereira et al., 2016). Adult semantic knowl-edge is the endpoint of a language acquisition process; thus, a relevant question is whether these models can also capture emerging word
    representations of young language learners. However, the data for children’s semantic knowledge across development is scarce. In this paper, we propose to bridge this gap by using Age of Acquisition norms to evaluate word embeddings learnt from child-directed input. We present two methods that evaluate word embeddings in terms of (a) the semantic neighbourhood density of learnt words, and (b) con-
    vergence to adult word associations. We apply our methods to bag-of-words models, and find that (1) children acquire words with fewer semantic neighbours earlier, and (2) young learners only attend to very local context. These findings provide converging evidence for validity of our methods in understanding the prerequisite features for a distributional model of word learning.
  • Alispahic, S., Pellicano, E., Cutler, A., & Antoniou, M. (2022). Auditory perceptual learning in autistic adults. Autism Research, 15(8), 1495-1507. doi:10.1002/aur.2778.

    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.

    Additional information

    data
  • Allen, S., Ozyurek, A., Kita, S., Brown, A., Turanli, R., & Ishizuka, T. (2003). Early speech about manner and path in Turkish and English: Universal or language-specific? In B. Beachley, A. Brown, & F. Conlin (Eds.), Proceedings of the 27th annual Boston University Conference on Language Development (pp. 63-72). Somerville (MA): Cascadilla Press.
  • Allerhand, M., Butterfield, S., Cutler, A., & Patterson, R. (1992). Assessing syllable strength via an auditory model. In Proceedings of the Institute of Acoustics: Vol. 14 Part 6 (pp. 297-304). St. Albans, Herts: Institute of Acoustics.
  • Alves, P. N., Forkel, S. J., Corbetta, M., & Thiebaut de Schotten, M. (2022). The subcortical and neurochemical organization of the ventral and dorsal attention networks. Communications Biology, 5: 1343. doi:10.1038/s42003-022-04281-0.

    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.
  • Ambridge, B., Pine, J. M., Rowland, C. F., Jones, R. L., & Clark, V. (2009). A Semantics-Based Approach to the “no negative evidence” problem. Cognitive Science, 33(7), 1301-1316. doi:10.1111/j.1551-6709.2009.01055.x.

    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.
  • Ambridge, B., Rowland, C. F., Theakston, A. L., & Twomey, K. E. (2020). Introduction. In C. F. Rowland, A. L. Theakston, B. Ambridge, & K. E. Twomey (Eds.), Current Perspectives on Child Language Acquisition: How children use their environment to learn (pp. 1-7). Amsterdam: John Benjamins. doi:10.1075/tilar.27.int.
  • Ambridge, B., Rowland, C. F., & Gummery, A. (2020). Teaching the unlearnable: A training study of complex yes/no questions. Language and Cognition, 12(2), 385-410. doi:10.1017/langcog.2020.5.

    Abstract

    A central question in language acquisition is how children master sentence types that they have seldom, if ever, heard. Here we report the findings of a pre-registered, randomised, single-blind intervention study designed to test the prediction that, for one such sentence type, complex questions (e.g., Is the crocodile who’s hot eating?), children could combine schemas learned, on the basis of the input, for complex noun phrases (the [THING] who’s [PROPERTY]) and simple questions (Is [THING] [ACTION]ing?) to yield a complex-question schema (Is [the [THING] who’s [PROPERTY]] ACTIONing?). Children aged 4;2 to 6;8 (M = 5;6, SD = 7.7 months) were trained on simple questions (e.g., Is the bird cleaning?) and either (Experimental group, N = 61) complex noun phrases (e.g., the bird who’s sad) or (Control group, N = 61) matched simple noun phrases (e.g., the sad bird). In general, the two groups did not differ on their ability to produce novel complex questions at test. However, the Experimental group did show (a) some evidence of generalising a particular complex NP schema (the [THING] who’s [PROPERTY] as opposed to the [THING] that’s [PROPERTY]) from training to test, (b) a lower rate of auxiliary-doubling errors (e.g., *Is the crocodile who’s hot is eating?), and (c) a greater ability to produce complex questions on the first test trial. We end by suggesting some different methods – specifically artificial language learning and syntactic priming – that could potentially be used to better test the present account.
  • Ambridge, B., & Rowland, C. F. (2009). Predicting children's errors with negative questions: Testing a schema-combination account. Cognitive Linguistics, 20(2), 225-266. doi:10.1515/COGL.2009.014.

    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.
  • Ameka, F. K. (2003). Prepositions and postpositions in Ewe: Empirical and theoretical considerations. In A. Zibri-Hetz, & P. Sauzet (Eds.), Typologie des langues d'Afrique et universaux de la grammaire (pp. 43-66). Paris: L'Harmattan.
  • Ameka, F. K. (2009). Access rituals in West Africa: An ethnopragmatic perspective. In G. Senft, & E. B. Basso (Eds.), Ritual communication (pp. 127-151). Oxford: Berg.
  • Ameka, F. K. (1999). [Review of M. E. Kropp Dakubu: Korle meets the sea: a sociolinguistic history of Accra]. Bulletin of the School of Oriental and African Studies, 62, 198-199. doi:10.1017/S0041977X0001836X.
  • Ameka, F. K. (1989). [Review of The case for lexicase: An outline of lexicase grammatical theory by Stanley Starosta]. Studies in Language, 13(2), 506-518.
  • Ameka, F. K. (2003). 'Today is far: Situational anaphors in overlapping clause constructions in Ewe. In M. E. K. Dakubu, & E. K. Osam (Eds.), In Studies in the Languages of the Volta Baisin 1. Proceedings of the Legon-Trondheim Linguistics Project, December 4-6, 2002 (pp. 9-22). Legon: Department of Linguistics University of Ghana.
  • Ameka, F. K. (2009). Likpe. In G. J. Dimmendaal (Ed.), Coding participant marking: Construction types in twelve African languages (pp. 239-280). Amsterdam: Benjamins.
  • Ameka, F. K. (1999). Interjections. In K. Brown, & J. Miller (Eds.), Concise encyclopedia of grammatical categories (pp. 213-216). Oxford: Elsevier.
  • Ameka, F. K. (1992). Interjections: The universal yet neglected part of speech. Journal of Pragmatics, 18(2/3), 101-118. doi:10.1016/0378-2166(92)90048-G.
  • Ameka, F. K. (1999). Partir c'est mourir un peu: Universal and culture specific features of leave taking. RASK International Journal of Language and Communication, 9/10, 257-283.
  • Ameka, F. K. (1999). Spatial information packaging in Ewe and Likpe: A comparative perspective. Frankfurter Afrikanistische Blätter, 11, 7-34.
  • Ameka, F. K., De Witte, C., & Wilkins, D. (1999). Picture series for positional verbs: Eliciting the verbal component in locative descriptions. In D. Wilkins (Ed.), Manual for the 1999 Field Season (pp. 48-54). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.2573831.

    Abstract

    How do different languages encode location and position meanings? In conjunction with the BowPed picture series and Caused Positions task, this elicitation tool is designed to help researchers (i) identify a language’s resources for encoding topological relations; (ii) delimit the pragmatics of use of such resources; and (iii) determine the semantics of select spatial terms. The task focuses on the exploration of the predicative component of topological expressions (e.g., ‘the cassavas are lying in the basket’), especially the contrastive elicitation of positional verbs. The materials consist of a set of photographs of objects (e.g., bottles, cloths, sticks) in specific configurations with various ground items (e.g., basket, table, tree).

    Additional information

    1999_Positional_verbs_stimuli.zip
  • Ameka, F. K. (1992). The meaning of phatic and conative interjections. Journal of Pragmatics, 18(2/3), 245-271. doi:10.1016/0378-2166(92)90054-F.

    Abstract

    The purpose of this paper is to investigate the meanings of the members of two subclasses of interjections in Ewe: the conative/volitive which are directed at an auditor, and the phatic which are used in the maintenance of social and communicative contact. It is demonstrated that interjections like other linguistic signs have meanings which can be rigorously stated. In addition, the paper explores the differences and similarities between the semantic structures of interjections on one hand and formulaic words on the other. This is done through a comparison of the semantics and pragmatics of an interjection and a formulaic word which are used for welcoming people in Ewe. It is contended that formulaic words are speech acts qua speech acts while interjections are not fully fledged speech acts because they lack illocutionary dictum in their semantic structure.
  • Ameka, F. K. (1999). The typology and semantics of complex nominal duplication in Ewe. Anthropological Linguistics, 41, 75-106.
  • Ameka, F. K. (2009). Verb extensions in Likpe (Sɛkpɛlé). Journal of West African Languages, 36(1/2), 139-157.
  • Amora, K. K., Garcia, R., & Gagarina, N. (2020). Tagalog adaptation of the Multilingual Assessment Instrument for Narratives: History, process and preliminary results. In N. Gagarina, & J. Lindgren (Eds.), New language versions of MAIN: Multilingual Assessment Instrument for Narratives – Revised (pp. 221-233).

    Abstract

    This paper briefly presents the current situation of bilingualism in the Philippines,
    specifically that of Tagalog-English bilingualism. More importantly, it describes the process of adapting the Multilingual Assessment Instrument for Narratives (LITMUS-MAIN) to Tagalog, the basis of Filipino, which is the country’s national language.
    Finally, the results of a pilot study conducted on Tagalog-English bilingual children and
    adults (N=27) are presented. The results showed that Story Structure is similar across the
    two languages and that it develops significantly with age.
  • Andreu-Bernabeu, A., Diaz-Caneja, C. M., Costas, J., De Hoyos, L., Stella, C., Gurriaran, X., Alloza, C., Fañanás, L., Bobes, J., Gonzalez-Pinto, A., Crespo-Facorro, B., Martorell, L., Vilella, E., Muntane, G., Nacher, J., Molto, M. D., Aguilar, E. J., Parellada, M., Arango, C., & González-Peñas, J. (2022). Polygenic contribution to the relationship of loneliness and social isolation with schizophrenia. Nature Communications, 13: 51. doi:10.1038/s41467-021-27598-6.

    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.

    Additional information

    supplementary information
  • Anichini, M., De Heer Kloots, M., & Ravignani, A. (2020). Interactive rhythms in the wild, in the brain, and in silico. Canadian Journal of Experimental Psychology, 74(3), 170-175. doi:10.1037/cep0000224.

    Abstract

    There are some historical divisions in methods, rationales, and purposes between
    studies on comparative cognition and behavioural ecology. In turn, the interaction between
    these two branches and studies from mathematics, computation and neuroscience is not
    usual. In this short piece, we attempt to build bridges among these disciplines. We present a
    series of interconnected vignettes meant to illustrate how a more interdisciplinary approach
    looks like when successful, and its advantages. Concretely, we focus on a recent topic,
    namely animal rhythms in interaction, studied under different approaches. We showcase 5
    research efforts, which we believe successfully link 5 particular Scientific areas of rhythm
    research conceptualized as: Social neuroscience, Detailed rhythmic quantification,
    Ontogeny, Computational approaches and Spontaneous interactions. Our suggestions will
    hopefully spur a ‘Comparative rhythms in interaction’ field, which can integrate and
    capitalize on knowledge from zoology, comparative psychology, neuroscience, and
    computation.
  • Anijs, M., Devanna, P., & Vernes, S. C. (2022). ARHGEF39, a gene implicated in developmental language disorder, activates RHOA and is involved in cell de-adhesion and neural progenitor cell proliferation. Frontiers in Molecular Neuroscience, 15: 941494. doi:10.3389/fnmol.2022.941494.

    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.

    Additional information

    tables figures
  • Arana, S. (2022). Abstract neural representations of language during sentence comprehension: Evidence from MEG and Behaviour. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Arana, S., Marquand, A., Hulten, A., Hagoort, P., & Schoffelen, J.-M. (2020). Sensory modality-independent activation of the brain network for language. The Journal of Neuroscience, 40(14), 2914-2924. doi:10.1523/JNEUROSCI.2271-19.2020.

    Abstract

    The meaning of a sentence can be understood, whether presented in written or spoken form. Therefore it is highly probable that brain processes supporting language comprehension are at least partly independent of sensory modality. To identify where and when in the brain language processing is independent of sensory modality, we directly compared neuromagnetic brain signals of 200 human subjects (102 males) either reading or listening to sentences. We used multiset canonical correlation analysis to align individual subject data in a way that boosts those aspects of the signal that are common to all, allowing us to capture word-by-word signal variations, consistent across subjects and at a fine temporal scale. Quantifying this consistency in activation across both reading and listening tasks revealed a mostly left hemispheric cortical network. Areas showing consistent activity patterns include not only areas previously implicated in higher-level language processing, such as left prefrontal, superior & middle temporal areas and anterior temporal lobe, but also parts of the control-network as well as subcentral and more posterior temporal-parietal areas. Activity in this supramodal sentence processing network starts in temporal areas and rapidly spreads to the other regions involved. The findings do not only indicate the involvement of a large network of brain areas in supramodal language processing, but also indicate that the linguistic information contained in the unfolding sentences modulates brain activity in a word-specific manner across subjects.
  • Araújo, S., Faísca, L., Petersson, K. M., & Reis, A. (2009). Cognitive profiles in Portuguese children with dyslexia. In Abstracts presented at the International Neuropsychological Society, Finnish Neuropsychological Society, Joint Mid-Year Meeting July 29-August 1, 2009. Helsinki, Finland & Tallinn, Estonia (pp. 23). Retrieved from http://www.neuropsykologia.fi/ins2009/INS_MY09_Abstract.pdf.
  • Araújo, S., Faísca, L., Petersson, K. M., & Reis, A. (2009). Visual processing factors contribute to object naming difficulties in dyslexic readers. In Abstracts presented at the International Neuropsychological Society, Finnish Neuropsychological Society, Joint Mid-Year Meeting July 29-August 1, 2009. Helsinki, Finland & Tallinn, Estonia (pp. 39). Retrieved from http://www.neuropsykologia.fi/ins2009/INS_MY09_Abstract.pdf.
  • Arnhold, A., Porretta, V., Chen, A., Verstegen, S. A., Mok, I., & Järvikivi, J. (2020). (Mis) understanding your native language: Regional accent impedes processing of information status. Psychonomic Bulletin & Review, 27, 801-808. doi:10.3758/s13423-020-01731-w.

    Abstract

    Native-speaker listeners constantly predict upcoming units of speech as part of language processing, using various cues.
    However, this process is impeded in second-language listeners, as well as when the speaker has an unfamiliar accent.
    Whereas previous research has largely concentrated on the pronunciation of individual segments in foreign-accented speech,
    we show that regional accent impedes higher levels of language processing, making native listeners’ processing resemble that of
    second-language listeners.
    In Experiment 1, 42 native speakers of Canadian English followed instructions spoken in British English to move objects on a
    screen while their eye movements were tracked. Native listeners use prosodic cues to information status to disambiguate between
    two possible referents, a new and a previously mentioned one, before they have heard the complete word. By contrast, the
    Canadian participants, similarly to second-language speakers, were not able to make full use of prosodic cues in the way native
    British listeners do.
    In Experiment 2, 19 native speakers of Canadian English rated the British English instructions used in Experiment 1, as well as
    the same instructions spoken by a Canadian imitating the British English prosody. While information status had no effect for the
    Canadian imitations, the original stimuli received higher ratings when prosodic realization and information status of the referent
    matched than for mismatches, suggesting a native-like competence in these offline ratings.
    These findings underline the importance of expanding psycholinguistic models of second language/dialect processing and
    representation to include both prosody and regional variation.
  • Arshamian, A., Manko, P., & Majid, A. (2020). Limitations in odour simulation may originate from differential sensory embodiment. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 375: 20190273. doi:10.1098/rstb.2019.0273.

    Abstract

    Across diverse lineages, animals communicate using chemosignals, but only humans communicate about chemical signals. Many studies have observed that compared with other sensory modalities, communication about smells is relatively rare and not always reliable. Recent cross-cultural studies, on the other hand, suggest some communities are more olfactorily oriented than previously supposed. Nevertheless, across the globe a general trend emerges where olfactory communication is relatively hard. We suggest here that this is in part because olfactory representations are different in kind: they have a low degree of embodiment, and are not easily expressed as primitives, thereby limiting the mental manipulations that can be performed with them. New exploratory data from Dutch children (9–12 year-olds) and adults support that mental imagery from olfaction is weak in comparison with vision and audition, and critically this is not affected by language development. Specifically, while visual and auditory imagery becomes more vivid with age, olfactory imagery shows no such development. This is consistent with the idea that olfactory representations are different in kind from representations from the other senses.

    Additional information

    Supplementary material
  • Asano, Y., Yuan, C., Grohe, A.-K., Weber, A., Antoniou, M., & Cutler, A. (2020). Uptalk interpretation as a function of listening experience. In N. Minematsu, M. Kondo, T. Arai, & R. Hayashi (Eds.), Proceedings of Speech Prosody 2020 (pp. 735-739). Tokyo: ISCA. doi:10.21437/SpeechProsody.2020-150.

    Abstract

    The term “uptalk” describes utterance-final pitch rises that carry no sentence-structural information. Uptalk is usually dialectal or sociolectal, and Australian English (AusEng) is particularly known for this attribute. We ask here whether experience with an uptalk variety affects listeners’ ability to categorise rising pitch contours on the basis of the timing and height of their onset and offset. Listeners were two groups of English-speakers (AusEng, and American English), and three groups of listeners with L2 English: one group with Mandarin as L1 and experience of listening to AusEng, one with German as L1 and experience of listening to AusEng, and one with German as L1 but no AusEng experience. They heard nouns (e.g. flower, piano) in the framework “Got a NOUN”, each ending with a pitch rise artificially manipulated on three contrasts: low vs. high rise onset, low vs. high rise offset and early vs. late rise onset. Their task was to categorise the tokens as “question” or “statement”, and we analysed the effect of the pitch contrasts on their judgements. Only the native AusEng listeners were able to use the pitch contrasts systematically in making these categorisations.
  • Avelino, H., Coon, J., & Norcliffe, E. (Eds.). (2009). New perspectives in Mayan linguistics. Cambridge, MA: MIT Working Papers in Linguistics.
  • Azar, Z. (2020). Effect of language contact on speech and gesture: The case of Turkish-Dutch bilinguals in the Netherlands. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Azar, Z., Backus, A., & Ozyurek, A. (2020). Language contact does not drive gesture transfer: Heritage speakers maintain language specific gesture patterns in each language. Bilingualism: Language and Cognition, 23(2), 414-428. doi:10.1017/S136672891900018X.

    Abstract

    This paper investigates whether there are changes in gesture rate when speakers of two languages with different gesture rates (Turkish-high gesture; Dutch-low gesture) come into daily contact. We analyzed gestures produced by second-generation heritage speakers of Turkish in the Netherlands in each language, comparing them to monolingual baselines. We did not find differences between bilingual and monolingual speakers, possibly because bilinguals were proficient in both languages and used them frequently – in line with a usage-based approach to language. However, bilinguals produced more deictic gestures than monolinguals in both Turkish and Dutch, which we interpret as a bilingual strategy. Deictic gestures may help organize discourse by placing entities in gesture space and help reduce the cognitive load associated with being bilingual, e.g., inhibition cost. Therefore, gesture rate does not necessarily change in contact situations but might be modulated by frequency of language use, proficiency, and cognitive factors related to being bilingual.
  • Azar, Z., Ozyurek, A., & Backus, A. (2020). Turkish-Dutch bilinguals maintain language-specific reference tracking strategies in elicited narratives. International Journal of Bilingualism, 24(2), 376-409. doi:10.1177/1367006919838375.

    Abstract

    Aim:

    This paper examines whether second-generation Turkish heritage speakers in the Netherlands follow language-specific patterns of reference tracking in Turkish and Dutch, focusing on discourse status and pragmatic contexts as factors that may modulate the choice of referring expressions (REs), that is, the noun phrase (NP), overt pronoun and null pronoun.
    Methodology:

    Two short silent videos were used to elicit narratives from 20 heritage speakers of Turkish, both in Turkish and in Dutch. Monolingual baseline data were collected from 20 monolingually raised speakers of Turkish in Turkey and 20 monolingually raised speakers of Dutch in the Netherlands. We also collected language background data from bilinguals with an extensive survey.
    Data and analysis:

    Using generalised logistic mixed-effect regression, we analysed the influence of discourse status and pragmatic context on the choice of subject REs in Turkish and Dutch, comparing bilingual data to the monolingual baseline in each language.
    Findings:

    Heritage speakers used overt versus null pronouns in Turkish and stressed versus reduced pronouns in Dutch in pragmatically appropriate contexts. There was, however, a slight increase in the proportions of overt pronouns as opposed to NPs in Turkish and as opposed to null pronouns in Dutch. We suggest an explanation based on the degree of entrenchment of differential RE types in relation to discourse status as the possible source of the increase.
    Originality:

    This paper provides data from an understudied language pair in the domain of reference tracking in language contact situations. Unlike several studies of pronouns in language contact, we do not find differences across monolingual and bilingual speakers with regard to pragmatic constraints on overt pronouns in the minority pro-drop language.
    Significance:

    Our findings highlight the importance of taking language proficiency and use into account while studying bilingualism and combining formal approaches to language use with usage-based approaches for a more complete understanding of bilingual language production.
  • Baayen, R. H. (2003). Probabilistic approaches to morphology. In R. Bod, J. Hay, & S. Jannedy (Eds.), Probabilistic linguistics (pp. 229-287). Cambridge: MIT Press.
  • Baayen, R. H., Moscoso del Prado Martín, F., Wurm, L., & Schreuder, R. (2003). When word frequencies do not regress towards the mean. In R. Baayen, & R. Schreuder (Eds.), Morphological structure in language processing (pp. 463-484). Berlin: Mouton de Gruyter.
  • Baayen, R. H., McQueen, J. M., Dijkstra, T., & Schreuder, R. (2003). Frequency effects in regular inflectional morphology: Revisiting Dutch plurals. In R. H. Baayen, & R. Schreuder (Eds.), Morphological structure in language processing (pp. 355-390). Berlin: Mouton de Gruyter.
  • Baayen, R. H., & Schreuder, R. (2003). Morphological structure in language processing. Berlin: Mouton de Gruyter.
  • Baayen, R. H., McQueen, J. M., Dijkstra, T., & Schreuder, R. (2003). Frequency effects in regular inflectional morphology: Revisiting Dutch plurals. In R. H. Baayen, & R. Schreuder (Eds.), Morphological Structure in Language Processing (pp. 355-390). Berlin, Germany: Mouton De Gruyter.
  • Baggio, G. (2009). Semantics and the electrophysiology of meaning: Tense, aspect, event structure. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Bai, F., Meyer, A. S., & Martin, A. E. (2022). Neural dynamics differentially encode phrases and sentences during spoken language comprehension. PLoS Biology, 20(7): e3001713. doi:10.1371/journal.pbio.3001713.

    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.
  • Bai, F. (2022). Neural representation of speech segmentation and syntactic structure discrimination. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Baranova, J. (2020). Reasons for every-day activities. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Barendse, M. T., & Rosseel, Y. (2020). Multilevel modeling in the ‘wide format’ approach with discrete data: A solution for small cluster sizes. Structural Equation Modeling: A Multidisciplinary Journal, 27(5), 696-721. doi:10.1080/10705511.2019.1689366.

    Abstract

    In multilevel data, units at level 1 are nested in clusters at level 2, which in turn may be nested in even larger clusters at level 3, and so on. For continuous data, several authors have shown how to model multilevel data in a ‘wide’ or ‘multivariate’ format approach. We provide a general framework to analyze random intercept multilevel SEM in the ‘wide format’ (WF) and extend this approach for discrete data. In a simulation study, we vary response scale (binary, four response options), covariate presence (no, between-level, within-level), design (balanced, unbalanced), model misspecification (present, not present), and the number of clusters (small, large) to determine accuracy and efficiency of the estimated model parameters. With a small number of observations in a cluster, results indicate that the WF approach is a preferable approach to estimate multilevel data with discrete response options.
  • Barrett, R. L. C., Dawson, M., Dyrby, T. B., Krug, K., Ptito, M., D'Arceuil, H., Croxson, P. L., Johnson, P. J., Howells, H., Forkel, S. J., Dell'Acqua, F., & Catani, M. (2020). Differences in Frontal Network Anatomy Across Primate Species. The Journal of Neuroscience, 40(10), 2094-2107. doi:10.1523/JNEUROSCI.1650-18.2019.

    Abstract

    The frontal lobe is central to distinctive aspects of human cognition and behavior. Some comparative studies link this to a larger frontal cortex and even larger frontal white matter in humans compared with other primates, yet others dispute these findings. The discrepancies between studies could be explained by limitations of the methods used to quantify volume differences across species, especially when applied to white matter connections. In this study, we used a novel tractography approach to demonstrate that frontal lobe networks, extending within and beyond the frontal lobes, occupy 66% of total brain white matter in humans and 48% in three monkey species: vervets (Chlorocebus aethiops), rhesus macaque (Macaca mulatta) and cynomolgus macaque (Macaca fascicularis), all male. The simian–human differences in proportional frontal tract volume were significant for projection, commissural, and both intralobar and interlobar association tracts. Among the long association tracts, the greatest difference was found for tracts involved in motor planning, auditory memory, top-down control of sensory information, and visuospatial attention, with no significant differences in frontal limbic tracts important for emotional processing and social behaviour. In addition, we found that a nonfrontal tract, the anterior commissure, had a smaller volume fraction in humans, suggesting that the disproportionally large volume of human frontal lobe connections is accompanied by a reduction in the proportion of some nonfrontal connections. These findings support a hypothesis of an overall rearrangement of brain connections during human evolution.
  • Barthel, M. (2020). Speech planning in dialogue: Psycholinguistic studies of the timing of turn taking. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Barthel, M., & Levinson, S. C. (2020). Next speakers plan word forms in overlap with the incoming turn: Evidence from gaze-contingent switch task performance. Language, Cognition and Neuroscience, 35(9), 1183-1202. doi:10.1080/23273798.2020.1716030.

    Abstract

    To ensure short gaps between turns in conversation, next speakers regularly start planning their utterance in overlap with the incoming turn. Three experiments investigate which stages of utterance planning are executed in overlap. E1 establishes effects of associative and phonological relatedness of pictures and words in a switch-task from picture naming to lexical decision. E2 focuses on effects of phonological relatedness and investigates potential shifts in the time-course of production planning during background speech. E3 required participants to verbally answer questions as a base task. In critical trials, however, participants switched to visual lexical decision just after they began planning their answer. The task-switch was time-locked to participants' gaze for response planning. Results show that word form encoding is done as early as possible and not postponed until the end of the incoming turn. Hence, planning a response during the incoming turn is executed at least until word form activation.

    Additional information

    Supplemental material
  • Basso, E. B., & Senft, G. (2009). Introduction. In G. Senft, & E. B. Basso (Eds.), Ritual communication (pp. 1-19). Oxford: Berg.
  • Bast, B. J., Oonk, L. C., De Nil, L., Eising, E., Koenraads, S. P., Bouwen, J., & Franken, M.-C. (2022). Ontwikkeling van stotteren: Inleiding tot een praktijkmodel. Stem- Spraak- en Taalpathologie, 27, 1-7. doi:10.21827/32.8310/2022-1.

    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.)
  • Bastiaanse, R., De Goede, D., & Love, T. (2009). Auditory sentence processing: An introduction. Journal of Psycholinguistic Research, 38(3), 177-179. doi:10.1007/s10936-009-9109-3.
  • Bastiaansen, M. C. M., & Hagoort, P. (2003). Event-induced theta responses as a window on the dynamics of memory. Cortex, 39(4-5), 967-972. doi:10.1016/S0010-9452(08)70873-6.

    Abstract

    An important, but often ignored distinction in the analysis of EEG signals is that between evoked activity and induced activity. Whereas evoked activity reflects the summation of transient post-synaptic potentials triggered by an event, induced activity, which is mainly oscillatory in nature, is thought to reflect changes in parameters controlling dynamic interactions within and between brain structures. We hypothesize that induced activity may yield information about the dynamics of cell assembly formation, activation and subsequent uncoupling, which may play a prominent role in different types of memory operations. We then describe a number of analysis tools that can be used to study the reactivity of induced rhythmic activity, both in terms of amplitude changes and of phase variability.

    We briefly discuss how alpha, gamma and theta rhythms are thought to be generated, paying special attention to the hypothesis that the theta rhythm reflects dynamic interactions between the hippocampal system and the neocortex. This hypothesis would imply that studying the reactivity of scalp-recorded theta may provide a window on the contribution of the hippocampus to memory functions.

    We review studies investigating the reactivity of scalp-recorded theta in paradigms engaging episodic memory, spatial memory and working memory. In addition, we review studies that relate theta reactivity to processes at the interface of memory and language. Despite many unknowns, the experimental evidence largely supports the hypothesis that theta activity plays a functional role in cell assembly formation, a process which may constitute the neural basis of memory formation and retrieval. The available data provide only highly indirect support for the hypothesis that scalp-recorded theta yields information about hippocampal functioning. It is concluded that studying induced rhythmic activity holds promise as an additional important way to study brain function.
  • Bastiaansen, M. C. M., Böcker, K. B. E., Cluitmans, P. J. M., & Brunia, C. H. M. (1999). Event-related desynchronization related to the anticipation of a stimulus providing knowledge of results. Clinical Neurophysiology, 110, 250-260.

    Abstract

    In the present paper, event-related desynchronization (ERD) in the alpha and beta frequency bands is quantified in order to investigate the processes related to the anticipation of a knowledge of results (KR) stimulus. In a time estimation task, 10 subjects were instructed to press a button 4 s after the presentation of an auditory stimulus. Two seconds after the response they received auditory or visual feedback on the timing of their response. Preceding the button press, a centrally maximal ERD is found. Preceding the visual KR stimulus, an ERD is present that has an occipital maximum. Contrary to expectation, preceding the auditory KR stimulus there are no signs of a modalityspecific ERD. Results are related to a thalamo-cortical gating model which predicts a correspondence between negative slow potentials and ERD during motor preparation and stimulus anticipation.
  • Bauer, B. L. M. (2020). Language sources and the reconstruction of early languages: Sociolinguistic discrepancies and evolution in Old French grammar. Diachronica, 37(3), 273-317. doi:10.1075/dia.18026.bau.

    Abstract

    This article argues that with the original emphasis on dialectal variation, using primarily literary texts from various regions, analysis of Old French has routinely neglected social variation, providing an incomplete picture of its grammar. Accordingly, Old French has been identified as typically featuring e.g. “pro-drop”, brace constructions, and single negation. Yet examination of these features in informal texts, as opposed to the formal texts typically dealt with, demonstrates that these documents do not corroborate the picture of Old French that is commonly presented in the linguistic literature. Our reconstruction of Old French grammar therefore needs adjustment and further refinement, in particular by implementing sociolinguistic data. With a broader scope, the call for inclusion of sociolinguistic variation may resonate in the investigation of other early languages, resulting in the reassessment of the sources used, and reopening the debate about social variation in dead languages and its role in language evolution.

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  • Bauer, B. L. M. (2020). Appositive compounds in dialectal and sociolinguistic varieties of French. In M. Maiden, & S. Wolfe (Eds.), Variation and change in Gallo-Romance (pp. 326-346). Oxford: Oxford University Press.
  • Bauer, B. L. M. (1992). Du latin au français: Le passage d'une langue SOV à une langue SVO. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Bauer, B. L. M. (1999). Aspects of impersonal constructions in Late Latin. In H. Petersmann, & R. Kettelmann (Eds.), Latin vulgaire – latin tardif V (pp. 209-211). Heidelberg: Winter.
  • Bauer, B. L. M. (2022). Counting systems. In A. Ledgeway, & M. Maiden (Eds.), The Cambridge Handbook of Romance Linguistics (pp. 459-488). Cambridge: Cambridge University Press.

    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.
  • Bauer, B. L. M. (2022). Finite verb + infinite + object in later Latin: Early brace constructions? In G. V. M. Haverling (Ed.), Studies on Late and Vulgar Latin in the Early 21st Century: Acts of the 12th International Colloquium "Latin vulgaire – Latin tardif (pp. 166-181). Uppsala: Acta Universitatis Upsaliensis.
  • Bauer, B. L. M. (1999). Impersonal HABET constructions: At the cross-roads of Indo-European innovation. In E. Polomé, & C. Justus (Eds.), Language change and typological variation. Vol II. Grammatical universals and typology (pp. 590-612). Washington: Institute for the study of man.
  • Bauer, B. L. M., & Pinault, G.-J. (Eds.). (2003). Language in time and space: A festschrift for Werner Winter on the occasion of his 80th birthday. Berlin: Mouton de Gruyter.
  • Bauer, B. L. M., & Pinault, G.-J. (2003). Introduction: Werner Winter, ad multos annos. In B. L. M. Bauer, & G.-J. Pinault (Eds.), Language in time and space: A festschrift for Werner Winter on the occasion of his 80th birthday (pp. xxiii-xxv). Berlin: Mouton de Gruyter.
  • Bauer, B. L. M. (1992). Evolution in language: Evidence from the Romance auxiliary. In B. Chiarelli, J. Wind, A. Nocentini, & B. Bichakjian (Eds.), Language origin: A multidisciplinary approach (pp. 517-528). Dordrecht: Kluwer.
  • Bauer, B. L. M. (2009). Residues as an aid in internal reconstruction. In J. E. Rasmussen, & T. Olander (Eds.), Internal reconstruction in Indo-European: Methods, results, and problems (pp. 17-31). Copenhagen: Museum Tusculanum Press.
  • Bauer, B. L. M. (2003). The adverbial formation in mente in Vulgar and Late Latin: A problem in grammaticalization. In H. Solin, M. Leiwo, & H. Hallo-aho (Eds.), Latin vulgaire, latin tardif VI (pp. 439-457). Hildesheim: Olms.
  • Bauer, B. L. M. (2009). Strategies of definiteness in Latin: Implications for early Indo-European. In V. Bubenik, J. Hewson, & S. Rose (Eds.), Grammatical change in Indo-European languages: Papers presented at the workshop on Indo-European Linguistics at the XVIIIth International Conference on Historical Linguistics, Montreal, 2007 (pp. 71-87). Amsterdam: Benjamins.
  • Bauer, B. L. M. (2009). Word order. In P. Baldi, & P. Cuzzolin (Eds.), New Perspectives on Historical Latin Syntax: Vol 1: Syntax of the Sentence (pp. 241-316). Berlin: Mouton de Gruyter.
  • Beattie, G. W., Cutler, A., & Pearson, M. (1982). Why is Mrs Thatcher interrupted so often? [Letters to Nature]. Nature, 300, 744-747. doi:10.1038/300744a0.

    Abstract

    If a conversation is to proceed smoothly, the participants have to take turns to speak. Studies of conversation have shown that there are signals which speakers give to inform listeners that they are willing to hand over the conversational turn1−4. Some of these signals are part of the text (for example, completion of syntactic segments), some are non-verbal (such as completion of a gesture), but most are carried by the pitch, timing and intensity pattern of the speech; for example, both pitch and loudness tend to drop particularly low at the end of a speaker's turn. When one speaker interrupts another, the two can be said to be disputing who has the turn. Interruptions can occur because one participant tries to dominate or disrupt the conversation. But it could also be the case that mistakes occur in the way these subtle turn-yielding signals are transmitted and received. We demonstrate here that many interruptions in an interview with Mrs Margaret Thatcher, the British Prime Minister, occur at points where independent judges agree that her turn appears to have finished. It is suggested that she is unconsciously displaying turn-yielding cues at certain inappropriate points. The turn-yielding cues responsible are identified.
  • Beierholm, U., Rohe, T., Ferrari, A., Stegle, O., & Noppeney, U. (2020). Using the past to estimate sensory uncertainty. eLife, 9: e54172. doi:10.7554/eLife.54172.

    Abstract

    To form a more reliable percept of the environment, the brain needs to estimate its own sensory uncertainty. Current theories of perceptual inference assume that the brain computes sensory uncertainty instantaneously and independently for each stimulus. We evaluated this assumption in four psychophysical experiments, in which human observers localized auditory signals that were presented synchronously with spatially disparate visual signals. Critically, the visual noise changed dynamically over time continuously or with intermittent jumps. Our results show that observers integrate audiovisual inputs weighted by sensory uncertainty estimates that combine information from past and current signals consistent with an optimal Bayesian learner that can be approximated by exponential discounting. Our results challenge leading models of perceptual inference where sensory uncertainty estimates depend only on the current stimulus. They demonstrate that the brain capitalizes on the temporal dynamics of the external world and estimates sensory uncertainty by combining past experiences with new incoming sensory signals.
  • Bentum, M., Ten Bosch, L., Van den Bosch, A., & Ernestus, M. (2022). Speech register influences listeners’ word expectations. Brain and Language, 235: 105197. doi:10.1016/j.bandl.2022.105197.

    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.
  • Bergmann, C., Dimitrova, N., Alaslani, K., Almohammadi, A., Alroqi, H., Aussems, S., Barokova, M., Davies, C., Gonzalez-Gomez, N., Gibson, S. P., Havron, N., Horowitz-Kraus, T., Kanero, J., Kartushina, N., Keller, C., Mayor, J., Mundry, R., Shinskey, J., & Mani, N. (2022). Young children’s screen time during the first COVID-19 lockdown in 12 countries. Scientific Reports, 12: 2015. doi:10.1038/s41598-022-05840-5.

    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.

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  • Bethard, S., Lai, V. T., & Martin, J. (2009). Topic model analysis of metaphor frequency for psycholinguistic stimuli. In Proceedings of the NAACL HLT Workshop on Computational Approaches to Linguistic Creativity, Boulder, Colorado, June 4, 2009 (pp. 9-16). Stroudsburg, PA: Association for Computational Linguistics.

    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.
  • Bidgood, A., Pine, J. M., Rowland, C. F., & Ambridge, B. (2020). Syntactic representations are both abstract and semantically constrained: Evidence from children’s and adults’ comprehension and production/priming of the English passive. Cognitive Science, 44(9): e12892. doi:10.1111/cogs.12892.

    Abstract

    All accounts of language acquisition agree that, by around age 4, children’s knowledge of grammatical constructions is abstract, rather than tied solely to individual lexical items. The aim of the present research was to investigate, focusing on the passive, whether children’s and adults’ performance is additionally semantically constrained, varying according to the distance between the semantics of the verb and those of the construction. In a forced‐choice pointing study (Experiment 1), both 4‐ to 6‐year olds (N = 60) and adults (N = 60) showed support for the prediction of this semantic construction prototype account of an interaction such that the observed disadvantage for passives as compared to actives (i.e., fewer correct points/longer reaction time) was greater for experiencer‐theme verbs than for agent‐patient and theme‐experiencer verbs (e.g., Bob was seen/hit/frightened by Wendy). Similarly, in a production/priming study (Experiment 2), both 4‐ to 6‐year olds (N = 60) and adults (N = 60) produced fewer passives for experiencer‐theme verbs than for agent‐patient/theme‐experiencer verbs. We conclude that these findings are difficult to explain under accounts based on the notion of A(rgument) movement or of a monostratal, semantics‐free, level of syntax, and instead necessitate some form of semantic construction prototype account.

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  • Bignardi, G., Chamberlain, R., Kevenaar, S. T., Tamimy, Z., & Boomsma, D. I. (2022). On the etiology of aesthetic chills: A behavioral genetic study. Scientific Reports, 12: 3247. doi:10.1038/s41598-022-07161-z.

    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.

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    Link to Preprint on BioRxiv
  • Blumstein, S., & Cutler, A. (2003). Speech perception: Phonetic aspects. In W. Frawley (Ed.), International encyclopaedia of linguistics (pp. 151-154). Oxford: Oxford University Press.
  • Bobadilla-Suarez, S., Guest, O., & Love, B. C. (2020). Subjective value and decision entropy are jointly encoded by aligned gradients across the human brain. Communications Biology, 3: 597. doi:10.1038/s42003-020-01315-3.

    Abstract

    Recent work has considered the relationship between value and confidence in both behavioural and neural representation. Here we evaluated whether the brain organises value and confidence signals in a systematic fashion that reflects the overall desirability of options. If so, regions that respond to either increases or decreases in both value and confidence should be widespread. We strongly confirmed these predictions through a model-based fMRI analysis of a mixed gambles task that assessed subjective value (SV) and inverse decision entropy (iDE), which is related to confidence. Purported value areas more strongly signalled iDE than SV, underscoring how intertwined value and confidence are. A gradient tied to the desirability of actions transitioned from positive SV and iDE in ventromedial prefrontal cortex to negative SV and iDE in dorsal medial prefrontal cortex. This alignment of SV and iDE signals could support retrospective evaluation to guide learning and subsequent decisions.

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  • Bocanegra, B. R., Poletiek, F. H., & Zwaan, R. A. (2022). Language concatenates perceptual features into representations during comprehension. Journal of Memory and Language, 127: 104355. doi:10.1016/j.jml.2022.104355.

    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.
  • Bock, K., Irwin, D. E., Davidson, D. J., & Levelt, W. J. M. (2003). Minding the clock. Journal of Memory and Language, 48, 653-685. doi:10.1016/S0749-596X(03)00007-X.

    Abstract

    Telling time is an exercise in coordinating language production with visual perception. By coupling different ways of saying times with different ways of seeing them, the performance of time-telling can be used to track cognitive transformations from visual to verbal information in connected speech. To accomplish this, we used eyetracking measures along with measures of speech timing during the production of time expressions. Our findings suggest that an effective interface between what has been seen and what is to be said can be constructed within 300 ms. This interface underpins a preverbal plan or message that appears to guide a comparatively slow, strongly incremental formulation of phrases. The results begin to trace the divide between seeing and saying -or thinking and speaking- that must be bridged during the creation of even the most prosaic utterances of a language.
  • Böcker, K. B. E., Bastiaansen, M. C. M., Vroomen, J., Brunia, C. H. M., & de Gelder, B. (1999). An ERP correlate of metrical stress in spoken word recognition. Psychophysiology, 36, 706-720. doi:10.1111/1469-8986.3660706.

    Abstract

    Rhythmic properties of spoken language such as metrical stress, that is, the alternation of strong and weak syllables, are important in speech recognition of stress-timed languages such as Dutch and English. Nineteen subjects listened passively to or discriminated actively between sequences of bisyllabic Dutch words, which started with either a weak or a strong syllable. Weak-initial words, which constitute 12% of the Dutch lexicon, evoked more negativity than strong-initial words in the interval between P2 and N400 components of the auditory event-related potential. This negativity was denoted as N325. The N325 was larger during stress discrimination than during passive listening. N325 was also larger when a weak-initial word followed sequence of strong-initial words than when it followed words with the same stress pattern. The latter difference was larger for listeners who performed well on stress discrimination. It was concluded that the N325 is probably a manifestation of the extraction of metrical stress from the acoustic signal and its transformation into task requirements.
  • De Boer, B., Thompson, B., Ravignani, A., & Boeckx, C. (2020). Analysis of mutation and fixation for language. In A. Ravignani, C. Barbieri, M. Flaherty, Y. Jadoul, E. Lattenkamp, H. Little, M. Martins, K. Mudd, & T. Verhoef (Eds.), The Evolution of Language: Proceedings of the 13th International Conference (Evolang13) (pp. 56-58). Nijmegen: The Evolution of Language Conferences.
  • De Boer, B., Thompson, B., Ravignani, A., & Boeckx, C. (2020). Evolutionary dynamics do not motivate a single-mutant theory of human language. Scientific Reports, 10: 451. doi:10.1038/s41598-019-57235-8.

    Abstract

    One of the most controversial hypotheses in cognitive science is the Chomskyan evolutionary conjecture that language arose instantaneously in humans through a single mutation. Here we analyze the evolutionary dynamics implied by this hypothesis, which has never been formalized before. The hypothesis supposes the emergence and fixation of a single mutant (capable of the syntactic operation Merge) during a narrow historical window as a result of frequency-independent selection under a huge fitness advantage in a population of an effective size no larger than ~15 000 individuals. We examine this proposal by combining diffusion analysis and extreme value theory to derive a probabilistic formulation of its dynamics. We find that although a macro-mutation is much more likely to go to fixation if it occurs, it is much more unlikely a priori than multiple mutations with smaller fitness effects. The most likely scenario is therefore one where a medium number of mutations with medium fitness effects accumulate. This precise analysis of the probability of mutations occurring and going to fixation has not been done previously in the context of the evolution of language. Our results cast doubt on any suggestion that evolutionary reasoning provides an independent rationale for a single-mutant theory of language.

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  • De Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A.-S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H. Z., Faivre, L., Fitzgerald-Butt, S., Geneviève, D. and 30 moreDe Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A.-S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H. Z., Faivre, L., Fitzgerald-Butt, S., Geneviève, D., Goos, J. A. C., Helm, B. M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S. A., Mathijssen, I. M. J., McGowan, R., Monaghan, K. G., Odent, S., Pfundt, R., Putoux, A., Van Reeuwijk, J., Santen, G. W. E., Sasaki, E., Sorlin, A., Van der Spek, P. J., Stegmann, A. P. A., Swagemakers, S. M. A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S. M., Wéber, M., Gilissen, C., Low, K. J., Fisher, S. E., Vissers, L. E. L. M., Wong, M. M. K., & Kleefstra, T. (2022). Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genetics in Medicine, 24(10), 2051-2064. doi:10.1016/j.gim.2022.06.007.

    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.

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