Publications

Displaying 201 - 300 of 1446
  • Corps, R. E., & Meyer, A. S. (2023). Word frequency has similar effects in picture naming and gender decision: A failure to replicate Jescheniak and Levelt (1994). Acta Psychologica, 241: 104073. doi:10.1016/j.actpsy.2023.104073.

    Abstract

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

    Additional information

    raw data and analysis scripts
  • Corps, R. E., Yang, F., & Pickering, M. (2023). Evidence against egocentric prediction during language comprehension. Royal Society Open Science, 10(12): 231252. doi:10.1098/rsos.231252.

    Abstract

    Although previous research has demonstrated that language comprehension can be egocentric, there is little evidence for egocentricity during prediction. In particular, comprehenders do not appear to predict egocentrically when the context makes it clear what the speaker is likely to refer to. But do comprehenders predict egocentrically when the context does not make it clear? We tested this hypothesis using a visual-world eye-tracking paradigm, in which participants heard sentences containing the gender-neutral pronoun They (e.g. They would like to wear…) while viewing four objects (e.g. tie, dress, drill, hairdryer). Two of these objects were plausible targets of the verb (tie and dress), and one was stereotypically compatible with the participant's gender (tie if the participant was male; dress if the participant was female). Participants rapidly fixated targets more than distractors, but there was no evidence that participants ever predicted egocentrically, fixating objects stereotypically compatible with their own gender. These findings suggest that participants do not fall back on their own egocentric perspective when predicting, even when they know that context does not make it clear what the speaker is likely to refer to.
  • Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K., Whelan, L., Cornelis, S. S., ABCA4-Study Group, Hoyng, C. B., Kämpjärvi, K., Klaver, C. C. W., Liskova, P., Stohr, H., Weber, B. H. F., Banfi, S., Farrar, G. J., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability. Human Genetics and Genomics Advances, 4(4): 100237. doi:10.1016/j.xhgg.2023.100237.

    Abstract

    The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands. A total of 858 probands were collected from 26 centers, of whom 722 carried no or one pathogenic ABCA4 variant while 136 cases carried two ABCA4 alleles, one of which was a frequent mild variant, suggesting that deep-intronic variants (DIVs) or other cis-modifiers might have been missed. After single molecule molecular inversion probes (smMIPs)-based sequencing of the complete 128-kb ABCA4 locus, the effect of putative splice variants was assessed in vitro by midigene splice assays in HEK293T cells. The breakpoints of copy number variants (CNVs) were determined by junction PCR and Sanger sequencing. ABCA4 sequence analysis solved 207/520 (39.8%) naïve or unsolved cases and 70/202 (34.7%) monoallelic cases, while additional causal variants were identified in 54/136 (39.7%) of probands carrying two variants. Seven novel DIVs and six novel non-canonical splice site variants were detected in a total of 35 alleles and characterized, including the c.6283-321C>G variant leading to a complex splicing defect. Additionally, four novel CNVs were identified and characterized in five alleles. These results confirm that smMIPs-based sequencing of the complete ABCA4 gene provides a cost-effective method to genetically solve retinopathy cases and that several rare structural and splice altering defects remain undiscovered in STGD1 cases.
  • Coventry, K. R., Gudde, H. B., Diessel, H., Collier, J., Guijarro-Fuentes, P., Vulchanova, M., Vulchanov, V., Todisco, E., Reile, M., Breunesse, M., Plado, H., Bohnemeyer, J., Bsili, R., Caldano, M., Dekova, R., Donelson, K., Forker, D., Park, Y., Pathak, L. S., Peeters, D. and 25 moreCoventry, K. R., Gudde, H. B., Diessel, H., Collier, J., Guijarro-Fuentes, P., Vulchanova, M., Vulchanov, V., Todisco, E., Reile, M., Breunesse, M., Plado, H., Bohnemeyer, J., Bsili, R., Caldano, M., Dekova, R., Donelson, K., Forker, D., Park, Y., Pathak, L. S., Peeters, D., Pizzuto, G., Serhan, B., Apse, L., Hesse, F., Hoang, L., Hoang, P., Igari, Y., Kapiley, K., Haupt-Khutsishvili, T., Kolding, S., Priiki, K., Mačiukaitytė, I., Mohite, V., Nahkola, T., Tsoi, S. Y., Williams, S., Yasuda, S., Cangelosi, A., Duñabeitia, J. A., Mishra, R. K., Rocca, R., Šķilters, J., Wallentin, M., Žilinskaitė-Šinkūnienė, E., & Incel, O. D. (2023). Spatial communication systems across languages reflect universal action constraints. Nature Human Behaviour, 77, 2099-2110. doi:10.1038/s41562-023-01697-4.

    Abstract

    The extent to which languages share properties reflecting the non-linguistic constraints of the speakers who speak them is key to the debate regarding the relationship between language and cognition. A critical case is spatial communication, where it has been argued that semantic universals should exist, if anywhere. Here, using an experimental paradigm able to separate variation within a language from variation between languages, we tested the use of spatial demonstratives—the most fundamental and frequent spatial terms across languages. In n = 874 speakers across 29 languages, we show that speakers of all tested languages use spatial demonstratives as a function of being able to reach or act on an object being referred to. In some languages, the position of the addressee is also relevant in selecting between demonstrative forms. Commonalities and differences across languages in spatial communication can be understood in terms of universal constraints on action shaping spatial language and cognition.
  • Cox, C., Bergmann, C., Fowler, E., Keren-Portnoy, T., Roepstorff, A., Bryant, G., & Fusaroli, R. (2023). A systematic review and Bayesian meta-analysis of the acoustic features of infant-directed speech. Nature Human Behaviour, 7, 114-133. doi:10.1038/s41562-022-01452-1.

    Abstract

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

    Additional information

    supplementary information
  • Cozijn, R., Vonk, W., & Noordman, L. G. M. (2003). Afleidingen uit oogbewegingen: De invloed van het connectief 'omdat' op het maken van causale inferenties. Gramma/TTT, 9, 141-156.
  • Crasborn, O. A., Hanke, T., Efthimiou, E., Zwitserlood, I., & Thoutenhooft, E. (Eds.). (2008). Construction and Exploitation of Sign Language Corpora. 3rd Workshop on the Representation and Processing of Sign Languages. Paris: ELDA.
  • Crasborn, O., & Sloetjes, H. (2008). Enhanced ELAN functionality for sign language corpora. In Proceedings of the 3rd Workshop on the Representation and Processing of Sign Languages: Construction and Exploitation of Sign Language Corpora (pp. 39-43).

    Abstract

    The multimedia annotation tool ELAN was enhanced within the Corpus NGT project by a number of new and improved functions. Most of these functions were not specific to working with sign language video data, and can readily be used for other annotation purposes as well. Their direct utility for working with large amounts of annotation files during the development and use of the Corpus NGT project is what unites the various functions, which are described in this paper. In addition, we aim to characterise future developments that will be needed in order to work efficiently with larger amounts of annotation files, for which a closer integration with the use and display of metadata is foreseen.
  • Crasborn, O. A., & Zwitserlood, I. (2008). The Corpus NGT: An online corpus for professionals and laymen. In O. A. Crasborn, T. Hanke, E. Efthimiou, I. Zwitserlood, & E. Thoutenhooft (Eds.), Construction and Exploitation of Sign Language Corpora. (pp. 44-49). Paris: ELDA.

    Abstract

    The Corpus NGT is an ambitious effort to record and archive video data from Sign Language of the Netherlands (Nederlandse Gebarentaal: NGT), guaranteeing online access to all interested parties and long-term availability. Data are collected from 100 native signers of NGT of different ages and from various regions in the country. Parts of these data are annotated and/or translated; the annotations and translations are part of the corpus. The Corpus NGT is accommodated in the Browsable Corpus based at the Max Planck Institute for Psycholinguistics. In this paper we share our experiences in data collection, video processing, annotation/translation and licensing involved in building the corpus.
  • Creemers, A. (2023). Morphological processing in spoken-word recognition. In D. Crepaldi (Ed.), Linguistic morphology in the mind and brain (pp. 50-64). New York: Routledge.

    Abstract

    Most psycholinguistic studies on morphological processing have examined the role of morphological structure in the visual modality. This chapter discusses morphological processing in the auditory modality, which is an area of research that has only recently received more attention. It first discusses why results in the visual modality cannot straightforwardly be applied to the processing of spoken words, stressing the importance of acknowledging potential modality effects. It then gives a brief overview of the existing research on the role of morphology in the auditory modality, for which an increasing number of studies report that listeners show sensitivity to morphological structure. Finally, the chapter highlights insights gained by looking at morphological processing not only in reading, but also in listening, and it discusses directions for future research
  • Creemers, A., Don, J., & Fenger, P. (2018). Some affixes are roots, others are heads. Natural Language & Linguistic Theory, 36(1), 45-84. doi:10.1007/s11049-017-9372-1.

    Abstract

    A recent debate in the morphological literature concerns the status of derivational affixes. While some linguists (Marantz 1997, 2001; Marvin 2003) consider derivational affixes a type of functional morpheme that realizes a categorial head, others (Lowenstamm 2015; De Belder 2011) argue that derivational affixes are roots. Our proposal, which finds its empirical basis in a study of Dutch derivational affixes, takes a middle position. We argue that there are two types of derivational affixes: some that are roots (i.e. lexical morphemes) and others that are categorial heads (i.e. functional morphemes). Affixes that are roots show ‘flexible’ categorial behavior, are subject to ‘lexical’ phonological rules, and may trigger idiosyncratic meanings. Affixes that realize categorial heads, on the other hand, are categorially rigid, do not trigger ‘lexical’ phonological rules nor allow for idiosyncrasies in their interpretation.
  • Cristia, A. (2008). Cue weighting at different ages. Purdue Linguistics Association Working Papers, 1, 87-105.
  • Cristia, A., & Seidl, A. (2008). Is infants' learning of sound patterns constrained by phonological features? Language Learning and Development, 4, 203-227. doi:10.1080/15475440802143109.

    Abstract

    Phonological patterns in languages often involve groups of sounds rather than individual sounds, which may be explained if phonology operates on the abstract features shared by those groups (Troubetzkoy, 193957. Troubetzkoy , N. 1939/1969 . Principles of phonology , Berkeley : University of California Press . View all references/1969; Chomsky & Halle, 19688. Chomsky , N. and Halle , M. 1968 . The sound pattern of English , New York : Harper and Row . View all references). Such abstract features may be present in the developing grammar either because they are part of a Universal Grammar included in the genetic endowment of humans (e.g., Hale, Kissock and Reiss, 200618. Hale , M. , Kissock , M. and Reiss , C. 2006 . Microvariation, variation, and the features of universal grammar . Lingua , 32 : 402 – 420 . View all references), or plausibly because infants induce features from their linguistic experience (e.g., Mielke, 200438. Mielke , J. 2004 . The emergence of distinctive features , Ohio State University : Unpublished doctoral dissertation . View all references). A first experiment tested 7-month-old infants' learning of an artificial grammar pattern involving either a set of sounds defined by a phonological feature, or a set of sounds that cannot be described with a single feature—an “arbitrary” set. Infants were able to induce the constraint and generalize it to a novel sound only for the set that shared the phonological feature. A second study showed that infants' inability to learn the arbitrary grouping was not due to their inability to encode a constraint on some of the sounds involved.
  • Cristia, A., Ganesh, S., Casillas, M., & Ganapathy, S. (2018). Talker diarization in the wild: The case of child-centered daylong audio-recordings. In Proceedings of Interspeech 2018 (pp. 2583-2587). doi:10.21437/Interspeech.2018-2078.

    Abstract

    Speaker diarization (answering 'who spoke when') is a widely researched subject within speech technology. Numerous experiments have been run on datasets built from broadcast news, meeting data, and call centers—the task sometimes appears close to being solved. Much less work has begun to tackle the hardest diarization task of all: spontaneous conversations in real-world settings. Such diarization would be particularly useful for studies of language acquisition, where researchers investigate the speech children produce and hear in their daily lives. In this paper, we study audio gathered with a recorder worn by small children as they went about their normal days. As a result, each child was exposed to different acoustic environments with a multitude of background noises and a varying number of adults and peers. The inconsistency of speech and noise within and across samples poses a challenging task for speaker diarization systems, which we tackled via retraining and data augmentation techniques. We further studied sources of structured variation across raw audio files, including the impact of speaker type distribution, proportion of speech from children, and child age on diarization performance. We discuss the extent to which these findings might generalize to other samples of speech in the wild.
  • Cristia, A., & Seidl, A. (2008). Why cross-linguistic frequency cannot be equated with ease of acquisition. University of Pennsylvania Working Papers in Linguistics, 14(1), 71-82. Retrieved from http://repository.upenn.edu/pwpl/vol14/iss1/6.
  • Croijmans, I. (2018). Wine expertise shapes olfactory language and cognition. PhD Thesis, Radboud University, Nijmegen.
  • Cronin, K. A., & Snowdon, C. T. (2008). The effects of unequal reward distributions on cooperative problem solving by cottontop tamarins, Saguinus oedipus. Animal Behaviour, 75, 245-257. doi:10.1016/j.anbehav.2007.04.032.

    Abstract

    Cooperation among nonhuman animals has been the topic of much theoretical and empirical research, but few studies have examined systematically the effects of various reward payoffs on cooperative behaviour. Here, we presented heterosexual pairs of cooperatively breeding cottontop tamarins with a cooperative problem-solving task. In a series of four experiments, we examined how the tamarins’ cooperative performance changed under conditions in which (1) both actors were mutually rewarded, (2) both actors were rewarded reciprocally across days, (3) both actors competed for a monopolizable reward and (4) one actor repeatedly delivered a single reward to the other actor. The tamarins showed sensitivity to the reward structure, showing the greatest percentage of trials solved and shortest latency to solve the task in the mutual reward experiment and the lowest percentage of trials solved and longest latency to solve the task in the experiment in which one actor was repeatedly rewarded. However, even in the experiment in which the fewest trials were solved, the tamarins still solved 46 _ 12% of trials and little to no aggression was observed among partners following inequitable reward distributions. The tamarins did, however, show selfish motivation in each of the experiments. Nevertheless, in all experiments, unrewarded individuals continued to cooperate and procure rewards for their social partners.
  • Croxson, P., Forkel, S. J., Cerliani, L., & Thiebaut De Schotten, M. (2018). Structural Variability Across the Primate Brain: A Cross-Species Comparison. Cerebral Cortex, 28(11), 3829-3841. doi:10.1093/cercor/bhx244.

    Abstract

    A large amount of variability exists across human brains; revealed initially on a small scale by postmortem studies and,
    more recently, on a larger scale with the advent of neuroimaging. Here we compared structural variability between human
    and macaque monkey brains using grey and white matter magnetic resonance imaging measures. The monkey brain was
    overall structurally as variable as the human brain, but variability had a distinct distribution pattern, with some key areas
    showing high variability. We also report the first evidence of a relationship between anatomical variability and evolutionary
    expansion in the primate brain. This suggests a relationship between variability and stability, where areas of low variability
    may have evolved less recently and have more stability, while areas of high variability may have evolved more recently and
    be less similar across individuals. We showed specific differences between the species in key areas, including the amount of
    hemispheric asymmetry in variability, which was left-lateralized in the human brain across several phylogenetically recent
    regions. This suggests that cerebral variability may be another useful measure for comparison between species and may add
    another dimension to our understanding of evolutionary mechanisms.
  • Cutler, A. (2008). The abstract representations in speech processing. Quarterly Journal of Experimental Psychology, 61(11), 1601-1619. doi:10.1080/13803390802218542.

    Abstract

    Speech processing by human listeners derives meaning from acoustic input via intermediate steps involving abstract representations of what has been heard. Recent results from several lines of research are here brought together to shed light on the nature and role of these representations. In spoken-word recognition, representations of phonological form and of conceptual content are dissociable. This follows from the independence of patterns of priming for a word's form and its meaning. The nature of the phonological-form representations is determined not only by acoustic-phonetic input but also by other sources of information, including metalinguistic knowledge. This follows from evidence that listeners can store two forms as different without showing any evidence of being able to detect the difference in question when they listen to speech. The lexical representations are in turn separate from prelexical representations, which are also abstract in nature. This follows from evidence that perceptual learning about speaker-specific phoneme realization, induced on the basis of a few words, generalizes across the whole lexicon to inform the recognition of all words containing the same phoneme. The efficiency of human speech processing has its basis in the rapid execution of operations over abstract representations.
  • Cutler, A., & Butterfield, S. (2003). Rhythmic cues to speech segmentation: Evidence from juncture misperception. In J. Field (Ed.), Psycholinguistics: A resource book for students. (pp. 185-189). London: Routledge.
  • Cutler, A., Murty, L., & Otake, T. (2003). Rhythmic similarity effects in non-native listening? In Proceedings of the 15th International Congress of Phonetic Sciences (PCPhS 2003) (pp. 329-332). Adelaide: Causal Productions.

    Abstract

    Listeners rely on native-language rhythm in segmenting speech; in different languages, stress-, syllable- or mora-based rhythm is exploited. This language-specificity affects listening to non- native speech, if native procedures are applied even though inefficient for the non-native language. However, speakers of two languages with similar rhythmic interpretation should segment their own and the other language similarly. This was observed to date only for related languages (English-Dutch; French-Spanish). We now report experiments in which Japanese listeners heard Telugu, a Dravidian language unrelated to Japanese, and Telugu listeners heard Japanese. In both cases detection of target sequences in speech was harder when target boundaries mismatched mora boundaries, exactly the pattern that Japanese listeners earlier exhibited with Japanese and other languages. These results suggest that Telugu and Japanese listeners use similar procedures in segmenting speech, and support the idea that languages fall into rhythmic classes, with aspects of phonological structure affecting listeners' speech segmentation.
  • Cutler, A., McQueen, J. M., Butterfield, S., & Norris, D. (2008). Prelexically-driven perceptual retuning of phoneme boundaries. In Proceedings of Interspeech 2008 (pp. 2056-2056).

    Abstract

    Listeners heard an ambiguous /f-s/ in nonword contexts where only one of /f/ or /s/ was legal (e.g., frul/*srul or *fnud/snud). In later categorisation of a phonetic continuum from /f/ to /s/, their category boundaries had shifted; hearing -rul led to expanded /f/ categories, -nud expanded /s/. Thus phonotactic sequence information alone induces perceptual retuning of phoneme category boundaries; lexical access is not required.
  • Cutler, A. (2003). The perception of speech: Psycholinguistic aspects. In W. Frawley (Ed.), International encyclopaedia of linguistics (pp. 154-157). Oxford: Oxford University Press.
  • Ip, M. H. K., & Cutler, A. (2018). Asymmetric efficiency of juncture perception in L1 and L2. In K. Klessa, J. Bachan, A. Wagner, M. Karpiński, & D. Śledziński (Eds.), Proceedings of Speech Prosody 2018 (pp. 289-296). Baixas, France: ISCA. doi:10.21437/SpeechProsody.2018-59.

    Abstract

    In two experiments, Mandarin listeners resolved potential syntactic ambiguities in spoken utterances in (a) their native language (L1) and (b) English which they had learned as a second language (L2). A new disambiguation task was used, requiring speeded responses to select the correct meaning for structurally ambiguous sentences. Importantly, the ambiguities used in the study are identical in Mandarin and in English, and production data show that prosodic disambiguation of this type of ambiguity is also realised very similarly in the two languages. The perceptual results here showed however that listeners’ response patterns differed for L1 and L2, although there was a significant increase in similarity between the two response patterns with increasing exposure to the L2. Thus identical ambiguity and comparable disambiguation patterns in L1 and L2 do not lead to immediate application of the appropriate L1 listening strategy to L2; instead, it appears that such a strategy may have to be learned anew for the L2.
  • Cutler, A. (1979). Beyond parsing and lexical look-up. In R. J. Wales, & E. C. T. Walker (Eds.), New approaches to language mechanisms: a collection of psycholinguistic studies (pp. 133-149). Amsterdam: North-Holland.
  • Cutler, A., & Fear, B. D. (1991). Categoricality in acceptability judgements for strong versus weak vowels. In J. Llisterri (Ed.), Proceedings of the ESCA Workshop on Phonetics and Phonology of Speaking Styles (pp. 18.1-18.5). Barcelona, Catalonia: Universitat Autonoma de Barcelona.

    Abstract

    A distinction between strong and weak vowels can be drawn on the basis of vowel quality, of stress, or of both factors. An experiment was conducted in which sets of contextually matched word-intial vowels ranging from clearly strong to clearly weak were cross-spliced, and the naturalness of the resulting words was rated by listeners. The ratings showed that in general cross-spliced words were only significantly less acceptable than unspliced words when schwa was not involved; this supports a categorical distinction based on vowel quality.
  • Cutler, A. (1979). Contemporary reaction to Rudolf Meringer’s speech error research. Historiograpia Linguistica, 6, 57-76.
  • Cutler, A. (1985). Cross-language psycholinguistics. Linguistics, 23, 659-667.
  • Ip, M. H. K., & Cutler, A. (2018). Cue equivalence in prosodic entrainment for focus detection. In J. Epps, J. Wolfe, J. Smith, & C. Jones (Eds.), Proceedings of the 17th Australasian International Conference on Speech Science and Technology (pp. 153-156).

    Abstract

    Using a phoneme detection task, the present series of
    experiments examines whether listeners can entrain to
    different combinations of prosodic cues to predict where focus
    will fall in an utterance. The stimuli were recorded by four
    female native speakers of Australian English who happened to
    have used different prosodic cues to produce sentences with
    prosodic focus: a combination of duration cues, mean and
    maximum F0, F0 range, and longer pre-target interval before
    the focused word onset, only mean F0 cues, only pre-target
    interval, and only duration cues. Results revealed that listeners
    can entrain in almost every condition except for where
    duration was the only reliable cue. Our findings suggest that
    listeners are flexible in the cues they use for focus processing.
  • Cutler, A., Garcia Lecumberri, M. L., & Cooke, M. (2008). Consonant identification in noise by native and non-native listeners: Effects of local context. Journal of the Acoustical Society of America, 124(2), 1264-1268. doi:10.1121/1.2946707.

    Abstract

    Speech recognition in noise is harder in second (L2) than first languages (L1). This could be because noise disrupts speech processing more in L2 than L1, or because L1 listeners recover better though disruption is equivalent. Two similar prior studies produced discrepant results: Equivalent noise effects for L1 and L2 (Dutch) listeners, versus larger effects for L2 (Spanish) than L1. To explain this, the latter experiment was presented to listeners from the former population. Larger noise effects on consonant identification emerged for L2 (Dutch) than L1 listeners, suggesting that task factors rather than L2 population differences underlie the results discrepancy.
  • Cutler, A., Burchfield, L. A., & Antoniou, M. (2018). Factors affecting talker adaptation in a second language. In J. Epps, J. Wolfe, J. Smith, & C. Jones (Eds.), Proceedings of the 17th Australasian International Conference on Speech Science and Technology (pp. 33-36).

    Abstract

    Listeners adapt rapidly to previously unheard talkers by
    adjusting phoneme categories using lexical knowledge, in a
    process termed lexically-guided perceptual learning. Although
    this is firmly established for listening in the native language
    (L1), perceptual flexibility in second languages (L2) is as yet
    less well understood. We report two experiments examining L1
    and L2 perceptual learning, the first in Mandarin-English late
    bilinguals, the second in Australian learners of Mandarin. Both
    studies showed stronger learning in L1; in L2, however,
    learning appeared for the English-L1 group but not for the
    Mandarin-L1 group. Phonological mapping differences from
    the L1 to the L2 are suggested as the reason for this result.
  • Cutler, A. (1982). Idioms: the older the colder. Linguistic Inquiry, 13(2), 317-320. Retrieved from http://www.jstor.org/stable/4178278?origin=JSTOR-pdf.
  • Cutler, A., & Norris, D. (1979). Monitoring sentence comprehension. In W. E. Cooper, & E. C. T. Walker (Eds.), Sentence processing: Psycholinguistic studies presented to Merrill Garrett (pp. 113-134). Hillsdale: Erlbaum.
  • Cutler, A., Norris, D., & McQueen, J. M. (1996). Lexical access in continuous speech: Language-specific realisations of a universal model. In T. Otake, & A. Cutler (Eds.), Phonological structure and language processing: Cross-linguistic studies (pp. 227-242). Berlin: Mouton de Gruyter.
  • Cutler, A. (1991). Linguistic rhythm and speech segmentation. In J. Sundberg, L. Nord, & R. Carlson (Eds.), Music, language, speech and brain (pp. 157-166). London: Macmillan.
  • Cutler, A., & Farrell, J. (2018). Listening in first and second language. In J. I. Liontas (Ed.), The TESOL encyclopedia of language teaching. New York: Wiley. doi:10.1002/9781118784235.eelt0583.

    Abstract

    Listeners' recognition of spoken language involves complex decoding processes: The continuous speech stream must be segmented into its component words, and words must be recognized despite great variability in their pronunciation (due to talker differences, or to influence of phonetic context, or to speech register) and despite competition from many spuriously present forms supported by the speech signal. L1 listeners deal more readily with all levels of this complexity than L2 listeners. Fortunately, the decoding processes necessary for competent L2 listening can be taught in the classroom. Evidence-based methodologies targeted at the development of efficient speech decoding include teaching of minimal pairs, of phonotactic constraints, and of reduction processes, as well as the use of dictation and L2 video captions.
  • Cutler, A., & Pearson, M. (1985). On the analysis of prosodic turn-taking cues. In C. Johns-Lewis (Ed.), Intonation in discourse (pp. 139-155). London: Croom Helm.
  • Cutler, A., & Fay, D. A. (1982). One mental lexicon, phonologically arranged: Comments on Hurford’s comments. Linguistic Inquiry, 13, 107-113. Retrieved from http://www.jstor.org/stable/4178262.
  • Cutler, A. (1985). Performance measures of lexical complexity. In G. Hoppenbrouwers, P. A. Seuren, & A. Weijters (Eds.), Meaning and the lexicon (pp. 75). Dordrecht: Foris.
  • Cutler, A., & Otake, T. (1996). Phonological structure and its role in language processing. In T. Otake, & A. Cutler (Eds.), Phonological structure and language processing: Cross-linguistic studies (pp. 1-12). Berlin: Mouton de Gruyter.
  • Cutler, A. (1991). Proceed with caution. New Scientist, (1799), 53-54.
  • Cutler, A. (1982). Prosody and sentence perception in English. In J. Mehler, E. C. Walker, & M. Garrett (Eds.), Perspectives on mental representation: Experimental and theoretical studies of cognitive processes and capacities (pp. 201-216). Hillsdale, N.J: Erlbaum.
  • Cutler, A. (1996). Prosody and the word boundary problem. In J. L. Morgan, & K. Demuth (Eds.), Signal to syntax: Bootstrapping from speech to grammar in early acquisition (pp. 87-99). Mahwah, NJ: Erlbaum.
  • Cutler, A. (1991). Prosody in situations of communication: Salience and segmentation. In Proceedings of the Twelfth International Congress of Phonetic Sciences: Vol. 1 (pp. 264-270). Aix-en-Provence: Université de Provence, Service des publications.

    Abstract

    Speakers and listeners have a shared goal: to communicate. The processes of speech perception and of speech production interact in many ways under the constraints of this communicative goal; such interaction is as characteristic of prosodic processing as of the processing of other aspects of linguistic structure. Two of the major uses of prosodic information in situations of communication are to encode salience and segmentation, and these themes unite the contributions to the symposium introduced by the present review.
  • Cutler, A. (1996). The comparative study of spoken-language processing. In H. T. Bunnell (Ed.), Proceedings of the Fourth International Conference on Spoken Language Processing: Vol. 1 (pp. 1). New York: Institute of Electrical and Electronics Engineers.

    Abstract

    Psycholinguists are saddled with a paradox. Their aim is to construct a model of human language processing, which will hold equally well for the processing of any language, but this aim cannot be achieved just by doing experiments in any language. They have to compare processing of many languages, and actively search for effects which are specific to a single language, even though a model which is itself specific to a single language is really the last thing they want.
  • Cutler, A. (1975). Sentence stress and sentence comprehension. PhD Thesis, University of Texas, Austin.
  • Cutler, A. (Ed.). (1982). Slips of the tongue and language production. The Hague: Mouton.
  • Cutler, A. (1982). Speech errors: A classified bibliography. Bloomington: Indiana University Linguistics Club.
  • Cutler, A., Van Ooijen, B., Norris, D., & Sanchez-Casas, R. (1996). Speeded detection of vowels: A cross-linguistic study. Perception and Psychophysics, 58, 807-822. Retrieved from http://www.psychonomic.org/search/view.cgi?id=430.

    Abstract

    In four experiments, listeners’ response times to detect vowel targets in spoken input were measured. The first three experiments were conducted in English. In two, one using real words and the other, nonwords, detection accuracy was low, targets in initial syllables were detected more slowly than targets in final syllables, and both response time and missed-response rate were inversely correlated with vowel duration. In a third experiment, the speech context for some subjects included all English vowels, while for others, only five relatively distinct vowels occurred. This manipulation had essentially no effect, and the same response pattern was again observed. A fourth experiment, conducted in Spanish, replicated the results in the first three experiments, except that miss rate was here unrelated to vowel duration. We propose that listeners’ responses to vowel targets in naturally spoken input are effectively cautious, reflecting realistic appreciation of vowel variability in natural context.
  • Cutler, A., & Otake, T. (1996). The processing of word prosody in Japanese. In P. McCormack, & A. Russell (Eds.), Proceedings of the 6th Australian International Conference on Speech Science and Technology (pp. 599-604). Canberra: Australian Speech Science and Technology Association.
  • Cutler, A., Hawkins, J. A., & Gilligan, G. (1985). The suffixing preference: A processing explanation. Linguistics, 23, 723-758.
  • Cutler, A., & Butterfield, S. (1991). Word boundary cues in clear speech: A supplementary report. Speech Communication, 10, 335-353. doi:10.1016/0167-6393(91)90002-B.

    Abstract

    One of a listener's major tasks in understanding continuous speech is segmenting the speech signal into separate words. When listening conditions are difficult, speakers can help listeners by deliberately speaking more clearly. In four experiments, we examined how word boundaries are produced in deliberately clear speech. In an earlier report we showed that speakers do indeed mark word boundaries in clear speech, by pausing at the boundary and lengthening pre-boundary syllables; moreover, these effects are applied particularly to boundaries preceding weak syllables. In English, listeners use segmentation procedures which make word boundaries before strong syllables easier to perceive; thus marking word boundaries before weak syllables in clear speech will make clear precisely those boundaries which are otherwise hard to perceive. The present report presents supplementary data, namely prosodic analyses of the syllable following a critical word boundary. More lengthening and greater increases in intensity were applied in clear speech to weak syllables than to strong. Mean F0 was also increased to a greater extent on weak syllables than on strong. Pitch movement, however, increased to a greater extent on strong syllables than on weak. The effects were, however, very small in comparison to the durational effects we observed earlier for syllables preceding the boundary and for pauses at the boundary.
  • Cutler, A., & Fay, D. (1975). You have a Dictionary in your Head, not a Thesaurus. Texas Linguistic Forum, 1, 27-40.
  • Dai, B., Chen, C., Long, Y., Zheng, L., Zhao, H., Bai, X., Liu, W., Zhang, Y., Liu, L., Guo, T., Ding, G., & Lu, C. (2018). Neural mechanisms for selectively tuning into the target speaker in a naturalistic noisy situation. Nature Communications, 9: 2405. doi:10.1038/s41467-018-04819-z.

    Abstract

    The neural mechanism for selectively tuning in to a target speaker while tuning out the others in a multi-speaker situation (i.e., the cocktail-party effect) remains elusive. Here we addressed this issue by measuring brain activity simultaneously from a listener and from multiple speakers while they were involved in naturalistic conversations. Results consistently show selectively enhanced interpersonal neural synchronization (INS) between the listener and the attended speaker at left temporal–parietal junction, compared with that between the listener and the unattended speaker across different multi-speaker situations. Moreover, INS increases significantly prior to the occurrence of verbal responses, and even when the listener’s brain activity precedes that of the speaker. The INS increase is independent of brain-to-speech synchronization in both the anatomical location and frequency range. These findings suggest that INS underlies the selective process in a multi-speaker situation through neural predictions at the content level but not the sensory level of speech.

    Additional information

    Dai_etal_2018_sup.pdf
  • Damian, M. F., & Abdel Rahman, R. (2003). Semantic priming in the naming of objects and famous faces. British Journal of Psychology, 94(4), 517-527.

    Abstract

    Researchers interested in face processing have recently debated whether access to the name of a known person occurs in parallel with retrieval of semantic-biographical codes, rather than in a sequential fashion. Recently, Schweinberger, Burton, and Kelly (2001) took a failure to obtain a semantic context effect in a manual syllable judgment task on names of famous faces as support for this position. In two experiments, we compared the effects of visually presented categorically related prime words with either objects (e.g. prime: animal; target: dog) or faces of celebrities (e.g. prime: actor; target: Bruce Willis) as targets. Targets were either manually categorized with regard to the number of syllables (as in Schweinberger et al.), or they were overtly named. For neither objects nor faces was semantic priming obtained in syllable decisions; crucially, however, priming was obtained when objects and faces were overtly named. These results suggest that both face and object naming are susceptible to semantic context effects
  • Davidson, D. J., Indefrey, P., & Gullberg, M. (2008). Words that second language learners are likely to hear, read, and use. Bilingualism: Language and Cognition, 11(1), 133-146. doi:10.1017/S1366728907003264.

    Abstract

    In the present study, we explore whether multiple data sources may be more effective than single sources at predicting the words that language learners are likely to know. Second language researchers have hypothesized that there is a relationship between word frequency and the likelihood that words will be encountered or used by second language learners, but it is not yet clear how this relationship should be effectively measured. An analysis of word frequency measures showed that spoken language frequency alone may predict the occurrence of words in learner textbooks, but that multiple corpora as well as textbook status can improve predictions of learner usage.
  • Declerck, T., Cunningham, H., Saggion, H., Kuper, J., Reidsma, D., & Wittenburg, P. (2003). MUMIS - Advanced information extraction for multimedia indexing and searching digital media - Processing for multimedia interactive services. 4th European Workshop on Image Analysis for Multimedia Interactive Services (WIAMIS), 553-556.
  • Dediu, D. (2008). Causal correlations between genes and linguistic features: The mechanism of gradual language evolution. In A. D. M. Smith, K. Smith, & R. Ferrer i Cancho (Eds.), The evolution of language: Proceedings of the 7th International Conference (EVOLANG7) (pp. 83-90). Singapore: World Scientific Press.

    Abstract

    The causal correlations between human genetic variants and linguistic (typological) features could represent the mechanism required for gradual, accretionary models of language evolution. The causal link is mediated by the process of cultural transmission of language across generations in a population of genetically biased individuals. The particular case of Tone, ASPM and Microcephalin is discussed as an illustration. It is proposed that this type of genetically-influenced linguistic bias, coupled with a fundamental role for genetic and linguistic diversities, provides a better explanation for the evolution of language and linguistic universals.
  • Dediu, D. (2018). Making genealogical language classifications available for phylogenetic analysis: Newick trees, unified identifiers, and branch length. Language Dynamics and Change, 8(1), 1-21. doi:10.1163/22105832-00801001.

    Abstract

    One of the best-known types of non-independence between languages is caused by genealogical relationships due to descent from a common ancestor. These can be represented by (more or less resolved and controversial) language family trees. In theory, one can argue that language families should be built through the strict application of the comparative method of historical linguistics, but in practice this is not always the case, and there are several proposed classifications of languages into language families, each with its own advantages and disadvantages. A major stumbling block shared by most of them is that they are relatively difficult to use with computational methods, and in particular with phylogenetics. This is due to their lack of standardization, coupled with the general non-availability of branch length information, which encapsulates the amount of evolution taking place on the family tree. In this paper I introduce a method (and its implementation in R) that converts the language classifications provided by four widely-used databases (Ethnologue, WALS, AUTOTYP and Glottolog) intothe de facto Newick standard generally used in phylogenetics, aligns the four most used conventions for unique identifiers of linguistic entities (ISO 639-3, WALS, AUTOTYP and Glottocode), and adds branch length information from a variety of sources (the tree's own topology, an externally given numeric constant, or a distance matrix). The R scripts, input data and resulting Newick trees are available under liberal open-source licenses in a GitHub repository (https://github.com/ddediu/lgfam-newick), to encourage and promote the use of phylogenetic methods to investigate linguistic diversity and its temporal dynamics.
  • Dediu, D., & Levinson, S. C. (2018). Neanderthal language revisited: Not only us. Current Opinion in Behavioral Sciences, 21, 49-55. doi:10.1016/j.cobeha.2018.01.001.

    Abstract

    Here we re-evaluate our 2013 paper on the antiquity of language (Dediu and Levinson, 2013) in the light of a surge of new information on human evolution in the last half million years. Although new genetic data suggest the existence of some cognitive differences between Neanderthals and modern humans — fully expected after hundreds of thousands of years of partially separate evolution, overall our claims that Neanderthals were fully articulate beings and that language evolution was gradual are further substantiated by the wealth of new genetic, paleontological and archeological evidence briefly reviewed here.
  • Dediu, D. (2008). The role of genetic biases in shaping the correlations between languages and genes. Journal of Theoretical Biology, 254, 400-407. doi:10.1016/j.jtbi.2008.05.028.

    Abstract

    It has recently been proposed (Dediu, D., Ladd, D.R., 2007. Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin. Proc Natl Acad Sci USA 104, 10944-10949) that genetically coded linguistic biases can influence the trajectory of language change. However, the nature of such biases and the conditions under which they can become manifest have remained vague. The present paper explores computationally two plausible types of linguistic acquisition biases in a population of agents implementing realistic genetic, linguistic and demographic processes. One type of bias represents an innate asymmetric initial state (Initial Expectation bias) while the other an innate asymmetric facility of acquisition (Rate of Learning bias). It was found that only the second type of bias produces detectable effects on language through cultural transmission across generations and that such effects are produced even by weak biases present at low frequencies in the population. This suggests that learning preference asymmetries, very small at the individual level and not very frequent at the population level, can bias the trajectory of language change through the process of cultural transmission.
  • Defina, R., Allen, S. E. M., Davidson, L., Hellwig, B., Kelly, B. F., & Kidd, E. (2023). Sketch Acquisition Manual (SAM), Part I: The sketch corpus. Language Documentation and Conservation Special Publication, 28, 5-38. Retrieved from https://hdl.handle.net/10125/74719.

    Abstract

    This paper presents the first part of a guide for documenting and describing child language, child-directed language and socialization patterns in diverse languages and cultures. The guide is intended for anyone interested in working across child language and language documentation,
    including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students. We assume some basic familiarity with language documentation principles and methods, and, based on this, provide step-by-step suggestions for
    collecting, analyzing and presenting child data. This first part of the guide focuses on constructing a sketch corpus that consists of minimally five hours of annotated and archived data and which documents communicative practices of children between the ages of 2 and 4.
  • Defina, R., Allen, S. E. M., Davidson, L., Hellwig, B., Kelly, B. F., & Kidd, E. (2023). Sketch Acquisition Manual (SAM), Part II: The acquisition sketch. Language Documentation and Conservation Special Publication, 28, 39-86. Retrieved from https://hdl.handle.net/10125/74720.

    Abstract

    This paper presents the second part of a guide for documenting and describing child language, child-directed language and socialization patterns in diverse languages and cultures. The guide is intended for anyone interested in working across child language and language documentation,
    including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students. We assume some basic familiarity with language documentation principles and methods, and, based on this, provide step-by-step suggestions for
    collecting, analyzing and presenting child data. This second part of the guide focuses on developing a child language acquisition sketch. It takes the sketch corpus as its basis (which was introduced in the first part of this guide), and presents a model for analyzing and describing the corpus data.
  • Degand, L., & Van Bergen, G. (2018). Discourse markers as turn-transition devices: Evidence from speech and instant messaging. Discourse Processes, 55, 47-71. doi:10.1080/0163853X.2016.1198136.

    Abstract

    In this article we investigate the relation between discourse markers and turn-transition strategies in face-to-face conversations and Instant Messaging (IM), that is, unplanned, real-time, text-based, computer-mediated communication. By means of a quantitative corpus study of utterances containing a discourse marker, we show that utterance-final discourse markers are used more often in IM than in face-to-face conversations. Moreover, utterance-final discourse markers are shown to occur more often at points of turn-transition compared with points of turn-maintenance in both types of conversation. From our results we conclude that the discourse markers in utterance-final position can function as a turn-transition mechanism, signaling that the turn is over and the floor is open to the hearer. We argue that this linguistic turn-taking strategy is essentially similar in face-to-face and IM communication. Our results add to the evidence that communication in IM is more like speech than like writing.
  • Delgado, T., Ravignani, A., Verhoef, T., Thompson, B., Grossi, T., & Kirby, S. (2018). Cultural transmission of melodic and rhythmic universals: Four experiments and a model. In C. Cuskley, M. Flaherty, H. Little, L. McCrohon, A. Ravignani, & T. Verhoef (Eds.), Proceedings of the 12th International Conference on the Evolution of Language (EVOLANG XII) (pp. 89-91). Toruń, Poland: NCU Press. doi:10.12775/3991-1.019.
  • Den Hoed, J., Sollis, E., Venselaar, H., Estruch, S. B., Derizioti, P., & Fisher, S. E. (2018). Functional characterization of TBR1 variants in neurodevelopmental disorder. Scientific Reports, 8: 14279. doi:10.1038/s41598-018-32053-6.

    Abstract

    Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.

    Additional information

    Electronic supplementary material
  • Deriziotis, P., & Tabrizi, S. J. (2008). Prions and the proteasome. Biochimica et Biophysica Acta-Molecular Basis of Disease, 1782(12), 713-722. doi:10.1016/j.bbadis.2008.06.011.

    Abstract

    Prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease in humans and bovine spongiform encephalopathy in animals. They are unique in terms of their biology because they are caused by the conformational re-arrangement of a normal host-encoded prion protein, PrPC, to an abnormal infectious isoform, PrPSc. Currently the precise mechanism behind prion-mediated neurodegeneration remains unclear. It is hypothesised than an unknown toxic gain of function of PrPSc, or an intermediate oligomeric form, underlies neuronal death. Increasing evidence suggests a role for the ubiquitin proteasome system (UPS) in prion disease. Both wild-type PrPC and disease-associated PrP isoforms accumulate in cells after proteasome inhibition leading to increased cell death, and abnormal beta-sheet-rich PrP isoforms have been shown to inhibit the catalytic activity of the proteasome. Here we review potential interactions between prions and the proteasome outlining how the UPS may be implicated in prion-mediated neurodegeneration.
  • Deutsch, W., & Frauenfelder, U. (1985). Max-Planck-Institute for Psycholinguistics: Annual Report Nr.6 1985. Nijmegen: MPI for Psycholinguistics.
  • Devanna, P., Van de Vorst, M., Pfundt, R., Gilissen, C., & Vernes, S. C. (2018). Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression. Human Genetics, 137(9), 717-721. doi:10.1007/s00439-018-1925-9.

    Abstract

    Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

    Additional information

    439_2018_1925_MOESM1_ESM.docx
  • Devanna, P., Chen, X. S., Ho, J., Gajewski, D., Smith, S. D., Gialluisi, A., Francks, C., Fisher, S. E., Newbury, D. F., & Vernes, S. C. (2018). Next-gen sequencing identifies non-coding variation disrupting miRNA binding sites in neurological disorders. Molecular Psychiatry, 23(5), 1375-1384. doi:10.1038/mp.2017.30.

    Abstract

    Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

    Additional information

    mp201730x1.docx
  • Dideriksen, C., Christiansen, M. H., Tylén, K., Dingemanse, M., & Fusaroli, R. (2023). Quantifying the interplay of conversational devices in building mutual understanding. Journal of Experimental Psychology: General, 152(3), 864-889. doi:10.1037/xge0001301.

    Abstract

    Humans readily engage in idle chat and heated discussions and negotiate tough joint decisions without ever having to think twice about how to keep the conversation grounded in mutual understanding. However, current attempts at identifying and assessing the conversational devices that make this possible are fragmented across disciplines and investigate single devices within single contexts. We present a comprehensive conceptual framework to investigate conversational devices, their relations, and how they adjust to contextual demands. In two corpus studies, we systematically test the role of three conversational devices: backchannels, repair, and linguistic entrainment. Contrasting affiliative and task-oriented conversations within participants, we find that conversational devices adaptively adjust to the increased need for precision in the latter: We show that low-precision devices such as backchannels are more frequent in affiliative conversations, whereas more costly but higher-precision mechanisms, such as specific repairs, are more frequent in task-oriented conversations. Further, task-oriented conversations involve higher complementarity of contributions in terms of the content and perspective: lower semantic entrainment and less frequent (but richer) lexical and syntactic entrainment. Finally, we show that the observed variations in the use of conversational devices are potentially adaptive: pairs of interlocutors that show stronger linguistic complementarity perform better across the two tasks. By combining motivated comparisons of several conversational contexts and theoretically informed computational analyses of empirical data the present work lays the foundations for a comprehensive conceptual framework for understanding the use of conversational devices in dialogue.
  • Dideriksen, C., Christiansen, M. H., Dingemanse, M., Højmark‐Bertelsen, M., Johansson, C., Tylén, K., & Fusaroli, R. (2023). Language‐specific constraints on conversation: Evidence from Danish and Norwegian. Cognitive Science, 47(11): e13387. doi:10.1111/cogs.13387.

    Abstract

    Establishing and maintaining mutual understanding in everyday conversations is crucial. To do so, people employ a variety of conversational devices, such as backchannels, repair, and linguistic entrainment. Here, we explore whether the use of conversational devices might be influenced by cross-linguistic differences in the speakers’ native language, comparing two matched languages—Danish and Norwegian—differing primarily in their sound structure, with Danish being more opaque, that is, less acoustically distinguished. Across systematically manipulated conversational contexts, we find that processes supporting mutual understanding in conversations vary with external constraints: across different contexts and, crucially, across languages. In accord with our predictions, linguistic entrainment was overall higher in Danish than in Norwegian, while backchannels and repairs presented a more nuanced pattern. These findings are compatible with the hypothesis that native speakers of Danish may compensate for its opaque sound structure by adopting a top-down strategy of building more conversational redundancy through entrainment, which also might reduce the need for repairs. These results suggest that linguistic differences might be met by systematic changes in language processing and use. This paves the way for further cross-linguistic investigations and critical assessment of the interplay between cultural and linguistic factors on the one hand and conversational dynamics on the other.
  • Dijkstra, K., & Casasanto, D. (2008). Autobiographical memory and motor action [Abstract]. In B. C. Love, K. McRae, & V. M. Sloutsky (Eds.), Proceedings of the 30th Annual Conference of the Cognitive Science Society (pp. 1549). Austin, TX: Cognitive Science Society.

    Abstract

    Retrieval of autobiographical memories is facilitated by activation of perceptuo-motor aspects of the experience, for example a congruent body position at the time of the experiencing and the time of retelling (Dijkstra, Kaschak, & Zwaan, 2007). The present study examined whether similar retrieval facilitation occurs when the direction of motor action is congruent with the valence of emotional memories. Consistent with evidence that people mentally represent emotions spatially (Casasanto, in press), participants moved marbles between vertically stacked boxes at a higher rate when the direction of movement was congruent with the valence of the memory they retrieved (e.g., upward for positive memories, downward for negative memories) than when direction and valence were incongruent (t(22)=4.24, p<.001). In addition, valence-congruent movements facilitated access to these memories, resulting in shorter retrieval times (t(22)=2.43, p<.05). Results demonstrate bidirectional influences between the emotional content of autobiographical memories and irrelevant motor actions.
  • Dikshit, A. P., Mishra, C., Das, D., & Parashar, S. (2023). Frequency and temperature-dependence ZnO based fractional order capacitor using machine learning. Materials Chemistry and Physics, 307: 128097. doi:10.1016/j.matchemphys.2023.128097.

    Abstract

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

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  • Dimitrova, D. V., Redeker, G., Egg, K. M. M., & Hoeks, J. C. J. (2008). Linguistic and extra-linguistic determinants of accentuation in Dutch. In P. Barbosa, & S. Madureira (Eds.), Proceedings of the 4th International Conference on Speech Prosody (pp. 409-412). ISCA Archive.

    Abstract

    In this paper we discuss the influence of semantically unexpected information on the prosodic realization of contrast.
    For this purpose, we examine the interplay between unexpectedness and various discourse factors that have been claimed to enhance the accentuation of contrastive
    information: contrast direction, syntactic status, and discourse distance. We conducted a production experiment in Dutch in which speakers described scenes consisting of moving fruits with unnatural colors. We found that a general cognitive factor such as the unexpectedness of a property has a strong impact on the intonational marking of contrast, over and above the influence of the immediate discourse context.
  • Dimitrova, D. V., Redeker, G., Egg, M., & Hoeks, J. C. (2008). Prosodic correlates of linguistic and extra-linguistic information in Dutch. In B. Love, K. McRae, & V. Sloutsky (Eds.), Proceedings of the 30th Annual Conference on the Cognitive Science Society (pp. 2191-2196). Washington: Cognitive Science Society.

    Abstract

    In this paper, we discuss the interplay of factors that influence the intonational marking of contrast in Dutch. In particular, we examine how prominence is expressed at the prosodic level when semantically abnormal information conflicts with contrastive information. For this purpose, we conducted a production experiment in Dutch in which speakers described scenes containing fruits with unnatural colors. We found that semantically abnormal information invokes cognitive prominence which corresponds to intonational prominence. Moreover, the results show that abnormality may overrule the accentual marking of information structural categories such as contrastive focus. If semantically abnormal information becomes integrated into the larger discourse context, its prosodic prominence decreases in favor of the signaling of information structural categories such as contrastive focus.
  • Dimroth, C. (2008). Perspectives on second language acquisition at different ages. In J. Philp, R. Oliver, & A. Mackey (Eds.), Second language acquisition and the younger learner: Child's play? (pp. 53-79). Amsterdam: Benjamins.

    Abstract

    Empirical studies addressing the age factor in second language acquisition have mainly been concerned with a comparison of end state data (from learners before and after the closure of a putative Critical Period for language acquisition) to the native speaker norm. Based on longitudinal corpus data, this paper investigates the affect of age on end state, rate and the process of acquisition and addresses the question of whether different grammatical domains are equally affected. To this end, the paper presents summarized findings from the acquisition of word order and inflectional morphology in L2 German by Russian learners of different ages and discusses theoretical implications that can be drawn from this evidence.
  • Dimroth, C. (2008). Age effects on the process of L2 acquisition? Evidence from the acquisition of negation and finiteness in L2 German. Language Learning, 58(1), 117-150. doi:10.1111/j.1467-9922.2007.00436.x.

    Abstract

    It is widely assumed that ultimate attainment in adult second language (L2) learners often differs quite radically from ultimate attainment in child L2 learners. This article addresses the question of whether learners at different ages also show qualitative differences in the process of L2 acquisition. Longitudinal production data from two untutored Russian beginners (ages 8 and 14) acquiring German under roughly similar conditions are compared to published results on the acquisition of German by adult immigrants. The study focuses on the acquisition of negation and finiteness as core domains of German sentence grammar. Adult learners have been shown to produce an early nonfinite learner variety in which utterance organization relies on principles of information structure rather than on target language grammar. They then go through a couple of intermediate steps in which, first, semantically empty verbs (auxiliaries) serve as isolated carriers of finiteness before lexical verbs become finite. Whereas the 14-year-old learner of this case study basically shows a developmental pattern similar to that of adults, the 8-year-old child produces a different order of acquisition: Not only is the development of finite morphology faster, but finite lexical verbs are acquired before auxiliary constructions (Perfekt). Results suggest a stronger tendency for young learners to incrementally assimilate input patterns without relying on analytic steps guided by principles of information organization to the same extent as older learners.
  • Dimroth, C., & Starren, M. (Eds.). (2003). Information structure and the dynamics of language acquisition. Amsterdam: John Benjamins.

    Abstract

    The papers in this volume focus on the impact of information structure on language acquisition, thereby taking different linguistic approaches into account. They start from an empirical point of view, and examine data from natural first and second language acquisition, which cover a wide range of varieties, from early learner language to native speaker production and from gesture to Creole prototypes. The central theme is the interplay between principles of information structure and linguistic structure and its impact on the functioning and development of the learner's system. The papers examine language-internal explanatory factors and in particular the communicative and structural forces that push and shape the acquisition process, and its outcome. On the theoretical level, the approach adopted appeals both to formal and communicative constraints on a learner’s language in use. Two empirical domains provide a 'testing ground' for the respective weight of grammatical versus functional determinants in the acquisition process: (1) the expression of finiteness and scope relations at the utterance level and (2) the expression of anaphoric relations at the discourse level.
  • Dimroth, C., Gretsch, P., Jordens, P., Perdue, C., & Starren, M. (2003). Finiteness in Germanic languages: A stage-model for first and second language development. In C. Dimroth, & M. Starren (Eds.), Information structure and the dynamics of language acquisition (pp. 65-94). Amsterdam: Benjamins.
  • Dimroth, C., & Starren, M. (2003). Introduction. In C. Dimroth, & M. Starren (Eds.), Information structure and the dynamics of language acquisition (pp. 1-14). Amsterdam: John Benjamins.
  • Dimroth, C., & Haberzettl, S. (2008). Je älter desto besser: Der Erwerb der Verbflexion in Kindesalter. In B. Ahrenholz, U. Bredel, W. Klein, M. Rost-Roth, & R. Skiba (Eds.), Empirische Forschung und Theoriebildung: Beiträge aus Soziolinguistik, Gesprochene-Sprache- und Zweitspracherwerbsforschung: Festschrift für Norbert Dittmar (pp. 227-238). Frankfurt am Main: Lang.
  • Dimroth, C. (2008). Kleine Unterschiede in den Lernvoraussetzungen beim ungesteuerten Zweitspracherwerb: Welche Bereiche der Zielsprache Deutsch sind besonders betroffen? In B. Ahrenholz (Ed.), Kinder und Migrationshintergrund: Spracherwerb und Fördermöglichkeiten (pp. 117-133). Freiburg: Fillibach.
  • Dimroth, C., & Lambert, M. (Eds.). (2008). La structure informationelle chez les apprenants L2 [Special Issue]. Acquisition et Interaction en Language Etrangère, 26.
  • Dimroth, C., & Klein, W. (1996). Fokuspartikeln in Lernervarietäten: Ein Analyserahmen und einige Beispiele. Zeitschrift für Literaturwissenschaft und Linguistik, 104, 73-114.
  • Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L., Van Reeuwijk, J., De Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I. J., Den Hoed, J., De Boer, E., Coenen-Van der Spek, J., Jansen, S., Van Bon, B. W., Jonis, N., Ockeloen, C. W., Vulto-van Silfhout, A. T., Kleefstra, T., Koolen, D. A., Campeau, P. M. and 13 moreDingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L., Van Reeuwijk, J., De Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I. J., Den Hoed, J., De Boer, E., Coenen-Van der Spek, J., Jansen, S., Van Bon, B. W., Jonis, N., Ockeloen, C. W., Vulto-van Silfhout, A. T., Kleefstra, T., Koolen, D. A., Campeau, P. M., Palmer, E. E., Van Esch, H., Lyon, G. J., Alkuraya, F. S., Rauch, A., Marom, R., Baralle, D., Van der Sluijs, P. J., Santen, G. W. E., Kooy, R. F., Van Gerven, M. A. J., Vissers, L. E. L. M., & De Vries, B. B. A. (2023). PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics, 55, 1598-1607. doi:10.1038/s41588-023-01469-w.

    Abstract

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

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  • Dingemanse, M. (2008). WALS online [review]. Elanguage. Retrieved from http://elanguage.net/blogs/booknotices/?p=69.
  • Dingemanse, M., Liesenfeld, A., Rasenberg, M., Albert, S., Ameka, F. K., Birhane, A., Bolis, D., Cassell, J., Clift, R., Cuffari, E., De Jaegher, H., Dutilh Novaes, C., Enfield, N. J., Fusaroli, R., Gregoromichelaki, E., Hutchins, E., Konvalinka, I., Milton, D., Rączaszek-Leonardi, J., Reddy, V. and 8 moreDingemanse, M., Liesenfeld, A., Rasenberg, M., Albert, S., Ameka, F. K., Birhane, A., Bolis, D., Cassell, J., Clift, R., Cuffari, E., De Jaegher, H., Dutilh Novaes, C., Enfield, N. J., Fusaroli, R., Gregoromichelaki, E., Hutchins, E., Konvalinka, I., Milton, D., Rączaszek-Leonardi, J., Reddy, V., Rossano, F., Schlangen, D., Seibt, J., Stokoe, E., Suchman, L. A., Vesper, C., Wheatley, T., & Wiltschko, M. (2023). Beyond single-mindedness: A figure-ground reversal for the cognitive sciences. Cognitive Science, 47(1): e13230. doi:10.1111/cogs.13230.

    Abstract

    A fundamental fact about human minds is that they are never truly alone: all minds are steeped in situated interaction. That social interaction matters is recognised by any experimentalist who seeks to exclude its influence by studying individuals in isolation. On this view, interaction complicates cognition. Here we explore the more radical stance that interaction co-constitutes cognition: that we benefit from looking beyond single minds towards cognition as a process involving interacting minds. All around the cognitive sciences, there are approaches that put interaction centre stage. Their diverse and pluralistic origins may obscure the fact that collectively, they harbour insights and methods that can respecify foundational assumptions and fuel novel interdisciplinary work. What might the cognitive sciences gain from stronger interactional foundations? This represents, we believe, one of the key questions for the future. Writing as a multidisciplinary collective assembled from across the classic cognitive science hexagon and beyond, we highlight the opportunity for a figure-ground reversal that puts interaction at the heart of cognition. The interactive stance is a way of seeing that deserves to be a key part of the conceptual toolkit of cognitive scientists.
  • Dingemanse, M., Hill, C., Majid, A., & Levinson, S. C. (2008). Ethnography of the senses. In A. Majid (Ed.), Field manual volume 11 (pp. 18-28). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.492935.

    Abstract

    This entry provides some orientation and task suggestions on how to explore the perceptual world of your field site and the interaction between the cultural world and the sensory lexicon in your community. The material consists of procedural texts; soundscapes; other documentary and observational tasks. The goal of this task is to explore the perceptual world of your field site and the interaction between the cultural world and the sensory lexicon in your community.
  • Dingemanse, M. (2008). [Review of Phonology Assistant 3.0.1: From Sil International]. Language Documentation & Conversation, 2(2), 325-331. Retrieved from http://hdl.handle.net/10125/4350.
  • Dingemanse, M. (2008). [Review of the book Semantic assignment rules in Bantu classes: A reanalysis based on Kiswahili by Assibi A. Amidu]. Afrikanistik Online.
  • Dingemanse, M., Blythe, J., & Dirksmeyer, T. (2018). Formats for other-initiation of repair across languages: An exercise in pragmatic typology. In I. Nikolaeva (Ed.), Linguistic Typology: Critical Concepts in Linguistics. Vol. 4 (pp. 322-357). London: Routledge.

    Abstract

    In conversation, people regularly deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them.
  • Dingemanse, M. (2018). Redrawing the margins of language: Lessons from research on ideophones. Glossa: a journal of general linguistics, 3(1): 4. doi:10.5334/gjgl.444.

    Abstract

    Ideophones (also known as expressives or mimetics, and including onomatopoeia) have been systematically studied in linguistics since the 1850s, when they were first described as a lexical class of vivid sensory words in West-African languages. This paper surveys the research history of ideophones, from its roots in African linguistics to its fruits in general linguistics and typology around the globe. It shows that despite a recurrent narrative of marginalisation, work on ideophones has made an impact in many areas of linguistics, from theories of phonological features to typologies of manner and motion, and from sound symbolism to sensory language. Due to their hybrid nature as gradient vocal gestures that grow roots in discrete linguistic systems, ideophones provide opportunities to reframe typological questions, reconsider the role of language ideology in linguistic scholarship, and rethink the margins of language. With ideophones increasingly being brought into the fold of the language sciences, this review synthesises past theoretical insights and empirical findings in order to enable future work to build on them.
  • Dingemanse, M. (2023). Ideophones. In E. Van Lier (Ed.), The Oxford handbook of word classes (pp. 466-476). Oxford: Oxford University Press.

    Abstract

    Many of the world’s languages feature an open lexical class of ideophones, words whose marked forms and sensory meanings invite iconic associations. Ideophones (also known as mimetics or expressives) are well-known from languages in Asia, Africa and the Americas, where they often form a class on the same order of magnitude as other major word classes and take up a considerable functional load as modifying expressions or predicates. Across languages, commonalities in the morphosyntactic behaviour of ideophones can be related to their nature and origin as vocal depictions. At the same time there is ample room for linguistic diversity, raising the need for fine-grained grammatical description of ideophone systems. As vocal depictions, ideophones often form a distinct lexical stratum seemingly conjured out of thin air; but as conventionalized words, they inevitably grow roots in local linguistic systems, showing relations to adverbs, adjectives, verbs and other linguistic resources devoted to modification and predication
  • Dingemanse, M. (2023). Interjections. In E. Van Lier (Ed.), The Oxford handbook of word classes (pp. 477-491). Oxford: Oxford University Press.

    Abstract

    No class of words has better claims to universality than interjections. At the same time, no category has more variable content than this one, traditionally the catch-all basket for linguistic items that bear a complicated relation to sentential syntax. Interjections are a mirror reflecting methodological and theoretical assumptions more than a coherent linguistic category that affords unitary treatment. This chapter focuses on linguistic items that typically function as free-standing utterances, and on some of the conceptual, methodological, and theoretical questions generated by such items. A key move is to study these items in the setting of conversational sequences, rather than from the “flatland” of sequential syntax. This makes visible how some of the most frequent interjections streamline everyday language use and scaffold complex language. Approaching interjections in terms of their sequential positions and interactional functions has the potential to reveal and explain patterns of universality and diversity in interjections.
  • Dirksmeyer, T. (2008). Spatial deixis in Chintang: Aspects of a grammar of space. Master Thesis, Universität Leipzig, Leipzig.

    Abstract

    This thesis examines the semantic structures underlying the encoding of space in Chintang, a Kiranti (Sino-Tibetan) language of Nepal. It provides a short general introduction to the history of thinking and speaking about space as well as to the notions of deixis and transposition, and sketches a state-of-the-art theory for categorizing spatial semantics (Levinson 2003). Drawing on targeted elicitation with native speakers, the empirical part then relates linguistic items of Chintang to the theoretical framework, with a focus on the nominal domain. After an analysis of deictic, topological, intrinsic and absolute spatial relations and their reflections in the language, the investigation concludes by comparing sets of Chintang deictics to those found in neighbouring Belhare (Bickel 2001). Despite striking formal resemblances, the semantic differences found indicate that even across closely related languages, meaning does not generalize easily.
  • Dittmar, N., & Klein, W. (1975). Untersuchungen zum Pidgin-Deutsch spanischer und italienischer Arbeiter in der Bundesrepublik: Ein Arbeitsbericht. In A. Wierlacher (Ed.), Jahrbuch Deutsch als Fremdsprache (pp. 170-194). Heidelberg: Groos.
  • Doerig, A., Sommers, R. P., Seeliger, K., Richards, B., Ismael, J., Lindsay, G. W., Kording, K. P., Konkle, T., Van Gerven, M. A. J., Kriegeskorte, N., & Kietzmann, T. C. (2023). The neuroconnectionist research programme. Nature Reviews Neuroscience, 24, 431-450. doi:10.1038/s41583-023-00705-w.

    Abstract

    Artificial neural networks (ANNs) inspired by biology are beginning to be widely used to model behavioural and neural data, an approach we call ‘neuroconnectionism’. ANNs have been not only lauded as the current best models of information processing in the brain but also criticized for failing to account for basic cognitive functions. In this Perspective article, we propose that arguing about the successes and failures of a restricted set of current ANNs is the wrong approach to assess the promise of neuroconnectionism for brain science. Instead, we take inspiration from the philosophy of science, and in particular from Lakatos, who showed that the core of a scientific research programme is often not directly falsifiable but should be assessed by its capacity to generate novel insights. Following this view, we present neuroconnectionism as a general research programme centred around ANNs as a computational language for expressing falsifiable theories about brain computation. We describe the core of the programme, the underlying computational framework and its tools for testing specific neuroscientific hypotheses and deriving novel understanding. Taking a longitudinal view, we review past and present neuroconnectionist projects and their responses to challenges and argue that the research programme is highly progressive, generating new and otherwise unreachable insights into the workings of the brain.
  • Doherty, M., & Klein, W. (Eds.). (1991). Übersetzung [Special Issue]. Zeitschrift für Literaturwissenschaft und Linguistik, (84).
  • D’Onofrio, G., Accogli, A., Severino, M., Caliskan, H., Kokotović, T., Blazekovic, A., Jercic, K. G., Markovic, S., Zigman, T., Goran, K., Barišić, N., Duranovic, V., Ban, A., Borovecki, F., Ramadža, D. P., Barić, I., Fazeli, W., Herkenrath, P., Marini, C., Vittorini, R. and 30 moreD’Onofrio, G., Accogli, A., Severino, M., Caliskan, H., Kokotović, T., Blazekovic, A., Jercic, K. G., Markovic, S., Zigman, T., Goran, K., Barišić, N., Duranovic, V., Ban, A., Borovecki, F., Ramadža, D. P., Barić, I., Fazeli, W., Herkenrath, P., Marini, C., Vittorini, R., Gowda, V., Bouman, A., Rocca, C., Alkhawaja, I. A., Murtaza, B. N., Rehman, M. M. U., Al Alam, C., Nader, G., Mancardi, M. M., Giacomini, T., Srivastava, S., Alvi, J. R., Tomoum, H., Matricardi, S., Iacomino, M., Riva, A., Scala, M., Madia, F., Pistorio, A., Salpietro, V., Minetti, C., Rivière, J.-B., Srour, M., Efthymiou, S., Maroofian, R., Houlden, H., Vernes, S. C., Zara, F., Striano, P., & Nagy, V. (2023). Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Human Genetics, 142, 909-925. doi:10.1007/s00439-023-02552-2.

    Abstract

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

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