Publications

Abstract

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

Abstract

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

Abstract

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

Abstract

This paper describes hardware and software that can be used for the phonetic study of sign languages. The field of sign language phonetics is characterised, and the hardware that is currently in use is described. The paper focuses on the software that was developed to enable the recording of finger and hand movement data, and the additions to the ELAN annotation software that facilitate the further visualisation and analysis of the data.

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

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.

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.

Abstract

We investigated cooperative problem solving in unrelated pairs of the cooperatively breeding cottontop tamarin, Saguinus oedipus, to assess the cognitive basis of cooperative behaviour in this species and to compare abilities with other apes and monkeys. A transparent apparatus was used that required extension of two handles at opposite ends of the apparatus for access to rewards. Resistance was applied to both handles so that two tamarins had to act simultaneously in order to receive rewards. In contrast to several previous studies of cooperation, both tamarins received rewards as a result of simultaneous pulling. The results from two experiments indicated that the cottontop tamarins (1) had a much higher success rate and efficiency of pulling than many of the other species previously studied, (2) adjusted pulling behaviour to the presence or absence of a partner, and (3) spontaneously developed sustained pulling techniques to solve the task. These findings suggest that cottontop tamarins understand the role of the partner in this cooperative task, a cognitive ability widely ascribed only to great apes. The cooperative social system of tamarins, the intuitive design of the apparatus, and the provision of rewards to both participants may explain the performance of the tamarins.

Abstract

To meet their exhibition, conservation, education, and scientific goals, members of the American Zoo and Aquarium Association (AZA) collaborate to manage their living collections as single species populations. These cooperative population management programs, Species Survival Planss (SSP) and Population Management Plans (PMP), issue specimen-by-specimen recommendations aimed at perpetuating captive populations by maintaining genetic diversity and demographic stability. Species Survival Plans and PMPs differ in that SSP participants agree to complete recommendations, whereas PMP participants need only take recommendations under advisement. We evaluated the effect of program type and the number of participating institutions on the success of actions recommended by the Population Management Center (PMC): transfers of specimens between institutions, breeding, and target number of offspring. We analyzed AZA studbook databases for the occurrence of recommended or unrecommended transfers and births during the 1-year period after the distribution of standard AZA Breeding-and-Transfer Plans. We had three major findings: 1) on average, both SSPs and PMPs fell about 25% short of their target; however, as the number of participating institutions increased so too did the likelihood that programs met or exceeded their target; 2) SSPs exhibited significantly greater transfer success than PMPs, although transfer success for both program types was below 50%; and 3) SSPs exhibited significantly greater breeding success than PMPs, although breeding success for both program types was below 20%. Together, these results indicate that the science and sophistication behind genetic and demographic management of captive populations may be compromised by the challenges of implementation.

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.

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.

Abstract

Rudolf Meringer (1859–1931), Indo-European philologist, published two collections of slips of the tongue, annotated and interpreted. From 1909, he was the founding editor of the cultural morphology movement's journal Wörter und Sachen. Meringer was the first to note the linguistic significance of speech errors, and his interpretations have stood the test of time. This work, rather than his mainstream philological research, has proven his most lasting linguistic contribution

Abstract

Language-specific procedures which are efficient for listening to the L1 may be applied to non-native spoken input, often to the detriment of successful listening. However, such misapplications of L1-based listening do not always happen. We propose, based on the results from two experiments in which Japanese listeners detected target sequences in spoken Korean, that an L1 procedure is only triggered if requisite L1 features are present in the input.

Abstract

Three groups of listeners identified the vowel in CV and VC syllables produced by an American English talker. The listeners were (a) native speakers of American English, (b) native speakers of Australian English (different dialect), and (c) native speakers of Dutch (different language). The syllables were embedded in multispeaker babble at three signal-to-noise ratios (0 dB, 8 dB, and 16 dB). The identification performance of native listeners was significantly better than that of listeners with another language but did not significantly differ from the performance of listeners with another dialect. Dialect differences did however affect the type of perceptual confusions which listeners made; in particular, the Australian listeners’ judgements of vowel tenseness were more variable than the American listeners’ judgements, which may be ascribed to cross-dialectal differences in this vocalic feature. Although listening difficulty can result when speech input mismatches the native dialect in terms of the precise cues for and boundaries of phonetic categories, the difficulty is very much less than that which arises when speech input mismatches the native language in terms of the repertoire of phonemic categories available.

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.

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.

Abstract

Experiments have revealed differences across languages in listeners’ use of stress information in recognising spoken words. Previous comparisons of the vocabulary of Spanish and English had suggested that the explanation of this asymmetry might lie in the extent to which considering stress in spokenword recognition allows rejection of unwanted competition from words embedded in other words. This hypothesis was tested on the vocabularies of Dutch and German, for which word recognition results resemble those from Spanish more than those from English. The vocabulary statistics likewise revealed that in each language, the reduction of embeddings resulting from taking stress into account is more similar to the reduction achieved in Spanish than in English.

Abstract

The mapping of phonetic information to lexical representations in second-language (L2) listening was examined using an eyetracking paradigm. Japanese listeners followed instructions in English to click on pictures in a display. When instructed to click on a picture of a rocket, they experienced interference when a picture of a locker was present, that is, they tended to look at the locker instead. However, when instructed to click on the locker, they were unlikely to look at the rocket. This asymmetry is consistent with a similar asymmetry previously observed in Dutch listeners’ mapping of English vowel contrasts to lexical representations. The results suggest that L2 listeners may maintain a distinction between two phonetic categories of the L2 in their lexical representations, even though their phonetic processing is incapable of delivering the perceptual discrimination required for correct mapping to the lexical distinction. At the phonetic processing level, one of the L2 categories is dominant; the present results suggest that dominance is determined by acoustic–phonetic proximity to the nearest L1 category. At the lexical processing level, representations containing this dominant category are more likely than representations containing the non-dominant category to be correctly contacted by the phonetic input.

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.

Abstract

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

Abstract

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.

Abstract

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

Abstract

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

Abstract

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

Abstract

In languages with variable stress placement, lexical stress patterns can convey information about word identity. The experiments reported here address the question of whether lexical stress information can be used in word recognition. The results allow the following conclusions: 1. Prior information as to the number of syllables and lexical stress patterns of words and nonwords does not facilitate lexical decision responses (Experiment 1). 2. The strong correspondences between grammatical category membership and stress pattern in bisyllabic English words (strong-weak stress being associated primarily with nouns, weak-strong with verbs) are not exploited in the recognition of isolated words (Experiment 2). 3. When a change in lexical stress also involves a change in vowel quality, i.e., a segmental as well as a suprasegmental alteration, effects on word recognition are greater when no segmental correlates of suprasegmental changes are involved (Experiments 2 and 3). 4. Despite the above finding, when all other factors are controlled, lexical stress information per se can indeed be shown to play a part in word-recognition process (Experiment 3).

Abstract

Participants' eye movements to four objects displayed on a computer screen were monitored as the participants clicked on the object named in a spoken instruction. The display contained pictures of the referent (e.g., a snake), a competitor that shared features with the visual representation associated with the referent's concept (e.g., a rope), and two distractor objects (e.g., a couch and an umbrella). As the first sounds of the referent's name were heard, the participants were more likely to fixate the visual competitor than to fixate either of the distractor objects. Moreover, this effect was not modulated by the visual similarity between the referent and competitor pictures, independently estimated in a visual similarity rating task. Because the name of the visual competitor did not overlap with the phonetic input, eye movements reflected word-object matching at the level of lexically activated perceptual features and not merely at the level of preactivated sound forms.

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.

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

Abstract

Speech comprehension is resistant to acoustic distortion in the input, reflecting listeners' ability to adjust perceptual processes to match the speech input. For noise-vocoded sentences, a manipulation that removes spectral detail from speech, listeners' reporting improved from near 0% to 70% correct over 30 sentences (Experiment 1). Learning was enhanced if listeners heard distorted sentences while they knew the identity of the undistorted target (Experiments 2 and 3). Learning was absent when listeners were trained with nonword sentences (Experiments 4 and 5), although the meaning of the training sentences did not affect learning (Experiment 5). Perceptual learning of noise-vocoded speech depends on higher level information, consistent with top-down, lexically driven learning. Similar processes may facilitate comprehension of speech in an unfamiliar accent or following cochlear implantation.

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.

Abstract

The Recent Out-of-Africa human evolutionary model seems to be generally accepted. This impression is very prevalent outside palaeoanthropological circles (including studies of language evolution), but proves to be unwarranted. This paper offers a short review of the main challenges facing ROA and concludes that alternative models based on the concept of metapopulation must be also considered. The implications of such a model for language evolution and diversity are briefly reviewed.

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.

Abstract

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

Abstract

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

Abstract

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.

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.

Abstract

Desmet, Brysbaert, and De Baecke (2002a) showed that the production of relative clauses following two potential attachment hosts (e.g., ‘Someone shot the servant of the actress who was on the balcony’) was influenced by the animacy of the first host. These results were important because they refuted evidence from Dutch against experience-based accounts of syntactic ambiguity resolution, such as the tuning hypothesis. However, Desmet et al. did not provide direct evidence in favour of tuning, because their study focused on production and did not include reading experiments. In the present paper this line of research was extended. A corpus analysis and an eye-tracking experiment revealed that when taking into account lexical properties of the NP host sites (i.e., animacy and concreteness) the frequency pattern and the on-line comprehension of the relative clause attachment ambiguity do correspond. The implications for exposure-based accounts of sentence processing are discussed.

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.

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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.

Abstract

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

Abstract

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

Abstract

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.

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.

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

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.

Abstract

Under what circumstances do languages die? Why has their “mortality rate” increased dramatically in the recent past? What “causes of death” can be identified for historical cases, to what extent are these generalizable, and how can they be captured in an explanatory theory? In pursuing these questions, it becomes apparent that in typical cases of language death various causes tend to interact in multiple ways. Speakers’ attitudes towards their language play a critical role in all of this. Existing categorial taxonomies do not succeed in modeling the complex relationships between these factors. Therefore, an alternative, dimensional approach is called for to more adequately address (and counter) the causes of language death in a given scenario.

Abstract

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

Abstract

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

Abstract

How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require structured representations of stimulus properties and the relations between them. An account of how we might acquire such representations has central importance for theories of human cognition. We describe how a system can learn structured relational representations from initially unstructured inputs using comparison, sensitivity to time, and a modified Hebbian learning algorithm. We summarize how the model DORA (Discovery of Relations by Analogy) instantiates this approach, which we call predicate learning, as well as how the model captures several phenomena from cognitive development, relational reasoning, and language processing in the human brain. Predicate learning offers a link between models based on formal languages and models which learn from experience and provides an existence proof for how structured representations might be learned in the first place.

Abstract

A commentary on
Transcranial Magnetic Stimulation over Left Inferior Frontal and Posterior Temporal Cortex Disrupts Gesture-Speech Integration

by Zhao, W., Riggs, K., Schindler, I., and Holle, H. (2018). J. Neurosci. 10, 1748–1717. doi: 10.1523/JNEUROSCI.1748-17.2017

Abstract

Previous work revealed that visual semantic information conveyed by gestures can enhance degraded speech comprehension, but the mechanisms underlying these integration processes under adverse listening conditions remain poorly understood. We used MEG to investigate how oscillatory dynamics support speech–gesture integration when integration load is manipulated by auditory (e.g., speech degradation) and visual semantic (e.g., gesture congruency) factors. Participants were presented with videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching (mixing gesture + “mixing”) or mismatching (drinking gesture + “walking”) gesture. In clear speech, alpha/beta power was more suppressed in the left inferior frontal gyrus and motor and visual cortices when integration load increased in response to mismatching versus matching gestures. In degraded speech, beta power was less suppressed over posterior STS and medial temporal lobe for mismatching compared with matching gestures, showing that integration load was lowest when speech was degraded and mismatching gestures could not be integrated and disambiguate the degraded signal. Our results thus provide novel insights on how low-frequency oscillatory modulations in different parts of the cortex support the semantic audiovisual integration of gestures in clear and degraded speech: When speech is clear, the left inferior frontal gyrus and motor and visual cortices engage because higher-level semantic information increases semantic integration load. When speech is degraded, posterior STS/middle temporal gyrus and medial temporal lobe are less engaged because integration load is lowest when visual semantic information does not aid lexical retrieval and speech and gestures cannot be integrated.