Publications

Abstract

Speech comprehension involves extensive use of prediction. Linguistic prediction may be guided by the semantics or syntax, but also by the performance characteristics of the speech signal, such as disfluency. Previous studies have shown that listeners, when presented with the filler uh, exhibit a disfluency bias for discourse-new or unknown referents, drawing inferences about the source of the disfluency. The goal of the present study is to study the contrast between native and non-native disfluencies in speech comprehension. Experiment 1 presented listeners with pictures of high-frequency (e.g., a hand) and low-frequency objects (e.g., a sewing machine) and with fluent and disfluent instructions. Listeners were found to anticipate reference to low-frequency objects when encountering disfluency, thus attributing disfluency to speaker trouble in lexical retrieval. Experiment 2 showed that, when participants listened to disfluent non-native speech, no anticipation of low-frequency referents was observed. We conclude that listeners can adapt their predictive strategies to the (non-native) speaker at hand, extending our understanding of the role of speaker identity in speech comprehension.

Abstract

Where native speakers supposedly are fluent by default, non-native speakers often have to strive hard to achieve a native-like fluency level. However, disfluencies (such as pauses, fillers, repairs, etc.) occur in both native and non-native speech and it is as yet unclear ow luency raters weigh the fluency characteristics of native and non-native speech. Two rating experiments compared the way raters assess the luency of native and non-native speech. The fluency characteristics of native and non- native speech were controlled by using phonetic anipulations in pause (Experiment 1) and speed characteristics (Experiment 2). The results show that the ratings on manipulated native and on-native speech were affected in a similar fashion. This suggests that there is no difference in the way listeners weigh the fluency haracteristics of native and non-native speakers.

Abstract

Relational grammar was proposed in Suppes (1976) as a semantical grammar for natural language. Fragments considered so far are restricted to distributive notions. In this article, relational grammar is extended to collective notions.

Abstract

Reprinted from; Bowerman, M. (1989). Learning a semantic system: What role do cognitive predispositions play? In M.L. Rice & R.L Schiefelbusch (Ed.), The teachability of language (pp. 133-169). Baltimore: Paul H. Brookes.

Abstract

Kids’ Cut & Break is a task inspired by the original Cut & Break task (see MPI L&C Group Field Manual 2001), but designed for use with children as well as adults. There are fewer videoclips to be described (34 as opposed to 61), and they are “friendlier” and more interesting: the actors wear colorful clothes, smile, and act cheerfully. The first 2 items are warm-ups and 4 more items are fillers (interspersed with test items), so only 28 of the items are actually “test items”. In the original Cut & Break, each clip is in a separate file. In Kids’ Cut & Break, all 34 clips are edited into a single file, which plays the clips successively with 5 seconds of black screen between each clip.

Abstract

This study reports three experiments on how children learning Mandarin Chinese comprehend and use aspect markers. These experiments examine the role of lexical aspect in children's acquisition of grammatical aspect. Results provide converging evidence for children's early sensitivity to (1) the association between atelic verbs and the imperfective aspect markers zai, -zhe, and -ne, and (2) the association between telic verbs and the perfective aspect marker -le. Children did not show a sensitivity in their use or understanding of aspect markers to the difference between stative and activity verbs or between semelfactive and activity verbs. These results are consistent with Slobin's (1985) basic child grammar hypothesis that the contrast between process and result is important in children's early acquisition of temporal morphology. In contrast, they are inconsistent with Bickerton's (1981, 1984) language bioprogram hypothesis that the distinctions between state and process and between punctual and nonpunctual are preprogrammed into language learners. We suggest new ways of looking at the results in the light of recent probabilistic hypotheses that emphasize the role of input, prototypes and connectionist representations.

Abstract

In numerous comprehension studies, across different languages, children have performed worse on object relatives (e.g., the dog that the cat chased) than on subject relatives (e.g., the dog that chased the cat). One possible reason for this is that the test sentences did not exactly match the kinds of object relatives that children typically experience. Adults and children usually hear and produce object relatives with inanimate heads and pronominal subjects (e.g., the car that we bought last year) (cf. Kidd et al., Language and Cognitive Processes 22: 860–897, 2007). We tested young 3-year old German- and English-speaking children with a referential selection task. Children from both language groups performed best in the condition where the experimenter described inanimate referents with object relatives that contained pronominal subjects (e.g., Can you give me the sweater that he bought?). Importantly, when the object relatives met the constraints identified in spoken discourse, children understood them as well as subject relatives, or even better. These results speak against a purely structural explanation for children's difficulty with object relatives as observed in previous studies, but rather support the usage-based account, according to which discourse function and experience with language shape the representation of linguistic structures.

Abstract

It has been fifty years since Levelt’s monograph On Binocular Rivalry (1965) was published, but its four propositions that describe the relation between stimulus strength and the phenomenology of binocular rivalry remain a benchmark for theorists and experimentalists even today. In this review, we will revisit the original conception of the four propositions and the scientific landscape in which this happened. We will also provide a brief update concerning distributions of dominance durations, another aspect of Levelt’s monograph that has maintained a prominent presence in the field. In a critical evaluation of Levelt’s propositions against current knowledge of binocular rivalry we will then demonstrate that the original propositions are not completely compatible with what is known today, but that they can, in a straightforward way, be modified to encapsulate the progress that has been made over the past fifty years. The resulting modified, propositions are shown to apply to a broad range of bistable perceptual phenomena, not just binocular rivalry, and they allow important inferences about the underlying neural systems. We argue that these inferences reflect canonical neural properties that play a role in visual perception in general, and we discuss ways in which future research can build on the work reviewed here to attain a better understanding of these properties

Abstract

Automated processing of large amounts of scientific data, especially across domains, requires that the data can be selected and parsed without human intervention. Precise characterization of that data, as in typing, is needed once the processing goes beyond the realm of domain specific or local research group assumptions. The Research Data Alliance (RDA) Data Type Registries Working Group (DTR-WG) was assembled to address this issue through the creation of a Data Type Registry methodology, data model, and prototype. The WG was approved by the RDA Council during March of 2013 and will complete its work in mid-2014, in between the third and fourth RDA Plenaries.

Abstract

This study examined the influence of background language variation on speech recognition. English listeners performed an English sentence recognition task in either “pure” background conditions in which all trials had either English or Dutch background babble or in mixed background conditions in which the background language varied across trials (i.e., a mix of English and Dutch or one of these background languages mixed with quiet trials). This design allowed the authors to compare performance on identical trials across pure and mixed conditions. The data reveal that speech-in-speech recognition is sensitive to contextual variation in terms of the target-background language (mis)match depending on the relative ease/difficulty of the test trials in relation to the surrounding trials.

Abstract

We employed a parametric psychophysical design in combination with functional imaging to examine the influence of metric changes in perceptual incongruence on perceptual alternation rates and cortical responses. Subjects viewed a bistable stimulus defined by incongruent depth cues; bistability resulted from incongruence between binocular disparity and monocular perspective cues that specify different slants (slant rivalry). Psychophysical results revealed that perceptual alternation rates were positively correlated with the degree of perceived incongruence. Functional imaging revealed systematic increases in activity that paralleled the psychophysical results within anterior intraparietal sulcus, prior to the onset of perceptual alternations. We suggest that this cortical activity predicts the frequency of subsequent alternations, implying a putative causal role for these areas in initiating bistable perception. In contrast, areas implicated in form and depth processing (LOC and V3A) were sensitive to the degree of slant, but failed to show increases in activity when these cues were in conflict.

Abstract

This study examined the temporal dynamics of spoken word recognition in noise and background speech. In two visual-world experiments, English participants listened to target words while looking at four pictures on the screen: a target (e.g. candle), an onset competitor (e.g. candy), a rhyme competitor (e.g. sandal), and an unrelated distractor (e.g. lemon). Target words were presented in quiet, mixed with broadband noise, or mixed with background speech. Results showed that lexical competition changes throughout the observation window as a function of what is presented in the background. These findings suggest that, rather than being strictly sequential, stream segregation and lexical competition interact during spoken word recognition

Abstract

A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.

Abstract

When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.

Abstract

The surge of research activity focussing on children's acquisition of verbs (e.g., Tomasello and Merriman 1996) addresses some fundamental questions: Just how variable across languages, and across individual children, is the process of verb learning? How specific are arguments to particular verbs in early child language? How does the grammatical category 'Verb' develop? The position of Universal Grammar, that a verb category is early, contrasts with that of Tomasello (1992), Pine and Lieven and their colleagues (1996, in press), and many others, that children develop a verb category slowly, gradually building up subcategorizations of verbs around pragmatic, syntactic, and semantic properties of the language they are exposed to. On this latter view, one would expect the language which the child is learning, the cultural milieu and the nature of the interactions in which the child is engaged, to influence the process of acquiring verb argument structures. This paper explores these issues by examining the development of argument representation in the Mayan language Tzeltal, in both its lexical and verbal cross-referencing forms, and analyzing the semantic and pragmatic factors influencing the form argument representation takes. Certain facts about Tzeltal (the ergative/ absolutive marking, the semantic specificity of transitive and positional verbs) are proposed to affect the representation of arguments. The first 500 multimorpheme combinations of 3 children (aged between 1;8 and 2;4) are examined. It is argued that there is no evidence of semantically light 'pathbreaking' verbs (Ninio 1996) leading the way into word combinations. There is early productivity of cross-referencing affixes marking A, S, and O arguments (although there are systematic omissions). The paper assesses the respective contributions of three kinds of factors to these results - structural (regular morphology), semantic (verb specificity) and pragmatic (the nature of Tzeltal conversational interaction).

Abstract

The systematic study of kinesics, gaze, and gestural aspects of communication in Central American cultures is a recent phenomenon, most of it focussing on the Mayan cultures of southern Mexico, Guatemala, and Belize. This article surveys ethnographic observations and research reports on bodily aspects of speaking in three domains: gaze and kinesics in social interaction, indexical pointing in adult and caregiver-child interactions, and co-speech gestures associated with “absolute” (geographically-based) systems of spatial reference. In addition, it reports how the indigenous co-speech gesture repertoire has provided the basis for developing village sign languages in the region. It is argued that studies of the embodied aspects of speech in the Mayan areas of Mexico and Central America have contributed to the typology of gestures and of spatial frames of reference. They have refined our understanding of how spatial frames of reference are invoked, communicated, and switched in conversational interaction and of the importance of co-speech gestures in understanding language use, language acquisition, and the transmission of culture-specific cognitive styles.

Abstract

Interaction, for all that it has an ethological base, is culturally constituted, and how new social members are enculturated into the interactional practices of the society is of critical interest to our understanding of interaction – how much is learned, how variable is it across cultures – as well as to our understanding of the role of culture in children’s social-cognitive development. The goal of this task is to document the nature of caregiver infant interaction in different cultures, especially during the critical age of 9-15 months when children come to have an understanding of others’ intentions. This is of interest to all students of interaction; it does not require specialist knowledge of children.

Abstract

This is a Spanish translation of Brown 1997.

Abstract

Speakers of the Mayan language Tzeltal use two frames of reference for spatial reckoning: an absolute system (based on the south/north axis abstracted from the overall slope of the land) and an intrinsic system utilizing spatial axes of the reference object to establish body parts. This paper examines the use of absolute, intrinsic, and landmark cues in descriptions of spatial relations by 22 pairs of Tzeltal children aged between 5 and 17. The data are drawn from interactive space games, where a Director describes a spatial layout in a photo and the Matcher reproduces it with toys. The paper distinguishes use of ad hoc landmarks ('Red Cliffs', 'the electricity post') from genuine absolute reference points ('uphill'/'downhill'/’across’), and shows that adults in this task use absolute ('cow uphill of horse'), intrinsic ('at the tree's side') and landmark ('cow facing Red Cliffs') descriptions to communicate the spatial relations depicted. The youngest children, however, do not use landmark cues at all but rely instead on deictics and on the absolute 'uphill/downhill' terms; landmark terms are still rare at age 8-10. Despite arguments that landmarks are a simpler, more natural, basis for spatial reckoning than absolute terms, there is no evidence for a developmental progression from landmark-based to absolute-based strategies. We relate these observations to Slobin’s ‘thinking for speaking’ argument.

Abstract

This article is a reprint of chapter 1, the introduction to Brown and Levinson, 1987, Politeness: Some universals in language usage (Cambridge University Press).

Abstract

This paper addresses the theories of Eve Clark about how children learn word meanings in western middle-class interactional contexts by examining child language data from a Tzeltal Maya society in southern Mexico where interaction patterns are radically different. Through examples of caregiver interactions with children 12-30 months old, I ask what lessons we can learn from how the details of these interactions unfold in this non-child-centered cultural context, and specifically, what aspects of the Tzeltal linguistic and interactional context might help to focus children’s attention on the meanings and the conventional forms of words being used around them.

Abstract

Speaking begins with the formulation of an intended preverbal message and linguistic encoding of this information. The transition from thought to speech occurs incrementally, with cascading planning at subsequent levels of production. In this article, we aim to specify the mechanisms that support incremental message preparation. We contrast two hypotheses about the mechanisms responsible for incorporating message-level information into a linguistic plan. According to the Initial Preparation view, messages can be encoded as fluent utterances if all information is ready before speaking begins. By contrast, on the Continuous Incrementality view, messages can be continually prepared and updated throughout the production process, allowing for fluent production even if new information is added to the message while speaking is underway. Testing these hypotheses, eye-tracked speakers in two experiments produced unscripted, conjoined noun phrases with modifiers. Both experiments showed that new message elements can be incrementally incorporated into the utterance even after articulation begins, consistent with a Continuous Incrementality view of message planning, in which messages percolate to linguistic encoding immediately as that information becomes available in the mind of the speaker. We conclude by discussing the functional role of incremental message planning in conversational speech and the situations in which this continuous incremental planning would be most likely to be observed

Abstract

Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analyzed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P=0.0000017, corrected P=0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia

Abstract

The Noir Marron are the direct descendants of thousands of African slaves deported to the Guyanas during the Atlantic Slave Trade and later escaped mainly from Dutch colonial plantations. Six ethnic groups are officially recognized, four of which are located in French Guyana: the Aluku, the Ndjuka, the Saramaka, and the Paramaka. The aim of this study was: (1) to determine the Noir Marron settlement through genetic exchanges with other communities such as Amerindians and Europeans; (2) to retrace their origins in Africa. Buffy-coat DNA from 142 Noir Marron, currently living in French Guyana, were analyzed using mtDNA (typing of SNP coding regions and sequencing of HVSI/II) and Y chromosomes (typing STR and SNPs) to define their genetic profile. Results were compared to an African database composed by published data, updated with genotypes of 82 Fon from Benin, and 128 Ahizi and 63 Yacouba from the Ivory-Coast obtained in this study for the same markers. Furthermore, the determination of the genomic subtype of HTLV-1 strains (env gp21 and LTR regions), which can be used as a marker of migration of infected populations, was performed for samples from 23 HTLV-1 infected Noir Marron and compared with the corresponding database. MtDNA profiles showed a high haplotype diversity, in which 99% of samples belonged to the major haplogroup L, frequent in Africa. Each haplotype was largely represented on the West African coast, but notably higher homologies were obtained with the samples present in the Gulf of Guinea. Y Chromosome analysis revealed the same pattern, i.e. a conservation of the African contribution to the Noir Marron genetic profile, with 98% of haplotypes belonging to the major haplogroup E1b1a, frequent in West Africa. The genetic diversity was higher than those observed in African populations, proving the large Noir Marron’s fatherland, but a predominant identity in the Gulf of Guinea can be suggested. Concerning HTLV-1 genotyping, all the Noir Marron strains belonged to the large Cosmopolitan A subtype. However, among them 17/23 (74%) clustered with the West African clade comprizing samples originating from Ivory-Coast, Ghana, Burkina-Fasso and Senegal, while 3 others clustered in the Trans-Sahelian clade and the remaining 3 were similar to strains found in individuals in South America. Through the combined analyses of three approaches, we have provided a conclusive image of the genetic profile of the Noir Marron communities studied. The high degree of preservation of the African gene pool contradicts the expected gene flow that would correspond to the major cultural exchanges observed between Noir Marron, Europeans and Amerindians. Marital practices and historical events could explain these observations. Corresponding to historical and cultural data, the origin of the ethnic groups is widely dispatched throughout West Africa. However, all results converge to suggest an individualization from a major birthplace in the Gulf of Guinea.

Abstract

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.

Abstract

The Noir Marron communities are the direct descendants of African slaves brought to the Guianas during the four centuries (16th to 19th) of the Atlantic slave trade. Among them, three major ethnic groups have been studied: the Aluku, the Ndjuka and the Saramaka. Their history led them to share close relationships with Europeans and Amerindians, as largely documented in their cultural records. The study of Gm polymorphisms of immunoglobulins may help to estimate the amount of gene flow linked to these cultural exchanges. Surprisingly, very low levels of European contribution (2.6%) and Amerindian contribution (1.7%) are detected in the Noir Marron gene pool. On the other hand, an African contribution of 95.7% redraws their origin to West Africa (FSTless-than-or-equals, slant0.15). This highly preserved African gene pool of the Noir Marron is unique in comparison to other African American populations of Latin America, who are notably more admixed

Abstract

Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader–Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

Abstract

Background: Despite a pervasive cortico-centric view in cognitive neuroscience, subcortical structures including the thalamus have been shown to be increasingly involved in higher cognitive functions. Previous structural and functional imaging studies demonstrated cortico-thalamo-cortical loops which may support various cognitive functions including language. However, large-scale functional connectivity of the thalamus during language tasks has not been examined before. Methods: The present study employed meta-analytic connectivity modeling to identify language-related coactivation patterns of the left and right thalami. The left and right thalami were used as regions of interest to search the BrainMap functional database for neuroimaging experiments with healthy participants reporting language-related activations in each region of interest. Activation likelihood estimation analyses were then carried out on the foci extracted from the identified studies to estimate functional convergence for each thalamus. A functional decoding analysis based on the same database was conducted to characterize thalamic contributions to different language functions. Results: The results revealed bilateral frontotemporal and bilateral subcortical (basal ganglia) coactivation patterns for both the left and right thalami, and also right cerebellar coactivations for the left thalamus, during language processing. In light of previous empirical studies and theoretical frameworks, the present connectivity and functional decoding findings suggest that cortico-subcortical-cerebellar-cortical loops modulate and fine-tune information transfer within the bilateral frontotemporal cortices during language processing, especially during production and semantic operations, but also other language (e.g., syntax, phonology) and cognitive operations (e.g., attention, cognitive control). Conclusion: The current findings show that the language-relevant network extends beyond the classical left perisylvian cortices and spans bilateral cortical, bilateral subcortical (bilateral thalamus, bilateral basal ganglia) and right cerebellar regions.

Abstract

Semplates are a new descriptive and theoretical concept in lexical semantics, borne out of recent L&C work in several domains. A semplate can be defined as a configuration consisting of distinct layers of lexemes, each layer drawn from a different form class, mapped onto the same abstract semantic template. Within such a lexical layer, the sense relations between the lexical items are inherited from the underlying template. Thus, the whole set of lexical layers and the underlying template form a cross-categorial configuration in the lexicon. The goal of this task is to find new kinds of macrostructure in the lexicon, with a view to cross-linguistic comparison.

Abstract

This paper reports tentatively some features of Semnam, a Central Aslian language spoken by some 250 people in the Perak valley, Peninsular Malaysia. It outlines the unusually rich phonemic system of this hitherto undescribed language (e.g. a vowel system comprising 36 distinctive nuclei), and proposes a practical orthography for it. It also includes the c. 1,250- item wordlist on which the analysis is based, collected intermittently in the field 2006-2008.

Abstract

Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology

Abstract

This study examined whether musical training, ethnicity, and experience with a natural tone language influenced sensitivity to tone while listening to an artificial tone language. The language was designed with three tones, modeled after level-tone African languages. Participants listened to a 15-min random concatenation of six 3-syllable words. Sensitivity to tone was assessed using minimal pairs differing only in one syllable (nonword task: e.g., to-kà-su compared to ca-fí-to) or only in tone (tone task: e.g., to-kà-su compared to to-ká-su). Proficiency in an East Asian heritage language was the strongest predictor of success on the tone task. Asians without tone language experience were no better than other ethnic groups. We conclude by considering implications for research on second language learning, especially as approached through artificial language learning.

Abstract

Pediatric myelodysplastic syndrome (MDS) is a heterogeneous disease covering a spectrum ranging from aplasia (RCC) to myeloproliferation (RAEB(t)). In adult-type MDS there is increasing evidence for abnormal function of the bone-marrow microenvironment. Here, we extensively studied the mesenchymal stromal cells (MSCs) derived from children with MDS. MSCs were expanded from the bone-marrow of 17 MDS patients (RCC: n = 10 and advanced MDS: n = 7) and pediatric controls (n = 10). No differences were observed with respect to phenotype, differentiation capacity, immunomodulatory capacity or hematopoietic support. mRNA expression analysis by Deep-SAGE revealed increased IL-6 expression in RCC- and RAEB(t)-MDS. RCC-MDS MSC expressed increased levels of DKK3, a protein associated with decreased apoptosis. RAEB(t)-MDS revealed increased CRLF1 and decreased DAPK1 expressions. This pattern has been associated with transformation in hematopoietic malignancies. Genes reported to be differentially expressed in adult MDS-MSC did not differ between MSC of pediatric MDS and controls. An altered mRNA expression profile, associated with cell survival and malignant transformation, of MSC derived from children with MDS strengthens the hypothesis that the micro-environment is of importance in this disease. Our data support the understanding that pediatric and adult MDS are two different diseases. Further evaluation of the pathways involved might reveal additional therapy targets.

Abstract

An aberrant interaction between hematopoietic stem cells and mesenchymal stromal cells has been linked to disease and shown to contribute to the pathophysiology of hematologic malignancies in murine models. Juvenile myelomonocytic leukemia is an aggressive malignant disease affecting young infants. Here we investigated the impact of juvenile myelomonocytic leukemia on mesenchymal stromal cells. Mesenchymal stromal cells were expanded from bone marrow samples of patients at diagnosis (n=9) and after hematopoietic stem cell transplantation (n=7; from 5 patients) and from healthy children (n=10). Cells were characterized by phenotyping, differentiation, gene expression analysis (of controls and samples obtained at diagnosis) and in vitro functional studies assessing immunomodulation and hematopoietic support. Mesenchymal stromal cells from patients did not differ from controls in differentiation capacity nor did they differ in their capacity to support in vitro hematopoiesis. Deep-SAGE sequencing revealed differential mRNA expression in patient-derived samples, including genes encoding proteins involved in immunomodulation and cell-cell interaction. Selected gene expression normalized during remission after successful hematopoietic stem cell transplantation. Whereas natural killer cell activation and peripheral blood mononuclear cell proliferation were not differentially affected, the suppressive effect on monocyte to dendritic cell differentiation was increased by mesenchymal stromal cells obtained at diagnosis, but not at time of remission. This study shows that active juvenile myelomonocytic leukemia affects the immune response-related gene expression and function of mesenchymal stromal cells. In contrast, the differential gene expression of hematopoiesis-related genes could not be supported by functional data. Decreased immune surveillance might contribute to the therapy resistance and progression in juvenile myelomonocytic leukemia.

Abstract

Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

Abstract

Do people with different kinds of bodies think differently? According to the body-specificity hypothesis, people who interact with their physical environments in systematically different ways should form correspondingly different mental representations. In a test of this hypothesis, 5 experiments investigated links between handedness and the mental representation of abstract concepts with positive or negative valence (e.g., honesty, sadness, intelligence). Mappings from spatial location to emotional valence differed between right- and left-handed participants. Right-handers tended to associate rightward space with positive ideas and leftward space with negative ideas, but left-handers showed the opposite pattern, associating rightward space with negative ideas and leftward with positive ideas. These contrasting mental metaphors for valence cannot be attributed to linguistic experience, because idioms in English associate good with right but not with left. Rather, right- and left-handers implicitly associated positive valence more strongly with the side of space on which they could act more fluently with their dominant hands. These results support the body-specificity hypothesis and provide evidence for the perceptuomotor basis of even the most abstract ideas.

Abstract

A key part of learning to speak with others is figuring out when to start talking and how to hold the floor in conversation. For young children, the challenge of planning a linguistic response can slow down their response latencies, making misunderstanding, repair, and loss of the floor more likely. Like adults, children can mitigate their delays by using fillers (e.g., uh and um) at the start of their turns. In this chapter I analyze the onset and development of fillers in five children’s spontaneous speech from ages 1;6–3;6. My findings suggest that children start using fillers by 2;0, and use them to effectively mitigate delay in making a response.

Abstract

Conversation is a structured, joint action for which children need to learn a specialized set skills and conventions. Because conversation is a primary source of linguistic input, we can better grasp how children become active agents in their own linguistic development by studying their acquisition of conversational skills. In this chapter I review research on children’s turn-taking. This fundamental skill of human interaction allows children to gain feedback, make clarifications, and test hypotheses at every stage of development. I broadly review children’s conversational experiences, the types of turn-based contingency they must acquire, how they ask and answer questions, and when they manage to make timely responses

Abstract

This study examines whether children acquiring Tseltal (Mayan) demonstrate a noun bias – an overrepresentation of nouns in their early vocabularies. Nouns, specifically concrete and animate nouns, are argued to universally predominate in children’s early vocabularies because their referents are naturally available as bounded concepts to which linguistic labels can be mapped. This early advantage for noun learning has been documented using multiple methods and across a diverse collection of language populations. However, past evidence bearing on a noun bias in Tseltal learners has been mixed. Tseltal grammatical features and child–caregiver interactional patterns dampen the salience of nouns and heighten the salience of verbs, leading to the prediction of a diminished noun bias and perhaps even an early predominance of verbs. We here analyze the use of noun and verb stems in children’s spontaneous speech from egocentric daylong recordings of 29 Tseltal learners between 0;9 and 4;4. We find weak to no evidence for a noun bias using two separate analytical approaches on the same data; one analysis yields a preliminary suggestion of a flipped outcome (i.e. a verb bias). We discuss the implications of these findings for broader theories of learning bias in early lexical development.

Abstract

Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.

Abstract

Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.

Abstract

The environment in which infants learn language is multimodal and rich with social cues. Yet, the effects of such cues, such as eye contact, on early speech perception have not been closely examined. This study assessed the role of ostensive speech, signalled through the speaker's eye gaze direction, on infants’ word segmentation abilities. A familiarisation-then-test paradigm was used while electroencephalography (EEG) was recorded. Ten-month-old Dutch-learning infants were familiarised with audio-visual stories in which a speaker recited four sentences with one repeated target word. The speaker addressed them either with direct or with averted gaze while speaking. In the test phase following each story, infants heard familiar and novel words presented via audio-only. Infants’ familiarity with the words was assessed using event-related potentials (ERPs). As predicted, infants showed a negative-going ERP familiarity effect to the isolated familiarised words relative to the novel words over the left-frontal region of interest during the test phase. While the word familiarity effect did not differ as a function of the speaker's gaze over the left-frontal region of interest, there was also a (not predicted) positive-going early ERP familiarity effect over right fronto-central and central electrodes in the direct gaze condition only. This study provides electrophysiological evidence that infants can segment words from audio-visual speech, regardless of the ostensiveness of the speaker's communication. However, the speaker's gaze direction seems to influence the processing of familiar words.

Abstract

Expressions of politeness such as 'please' are prominent elements of interactional conduct that are explicitly targeted in early socialization and are subject to cultural expectations around socially desirable behavior. Yet their specific interactional functions remain poorly understood. Using conversation analysis supplemented with systematic coding, this study investigates when and where interactants use 'please' in everyday requests. We find that 'please' is rare, occurring in only 7 percent of request attempts. Interactants use 'please' to manage face-threats when a request is ill fitted to its immediate interactional context. Within this, we identify two environments in which 'please' prototypically occurs. First, 'please' is used when the requestee has demonstrated unwillingness to comply. Second, 'please' is used when the request is intrusive due to its incompatibility with the requestee’s engagement in a competing action trajectory. Our findings advance research on politeness and extend Goffman’s theory of face-work, with particular salience for scholarship on request behavior.

Abstract

Sentence production is the process we use to create language-specific sentences that convey particular meanings. In production, there are complex interactions between meaning, words, and syntax at different points in sentences. Computational models can make these interactions explicit and connectionist learning algorithms have been useful for building such models. Connectionist models use domaingeneral mechanisms to learn internal representations and these mechanisms can also explain evidence of long-term syntactic adaptation in adult speakers. This paper will review work showing that these models can generalize words in novel ways and learn typologically-different languages like English and Japanese. It will also present modeling work which shows that connectionist learning algorithms can account for complex sentence production in children and adult production phenomena like structural priming, heavy NP shift, and conceptual/lexical accessibility.

Abstract

Lexicalized theories of syntax often assume that verb-structure regularities are mediated by lemmas, which abstract over variation in verb tense and aspect. German syntax seems to challenge this assumption, because verb position depends on tense and aspect. To examine how German speakers link these elements, a structural priming study was performed which varied syntactic structure, verb position (encoded by tense and aspect), and verb overlap. Abstract structural priming was found, both within and across verb position, but priming was larger when the verb position was the same between prime and target. Priming was boosted by verb overlap, but there was no interaction with verb position. The results can be explained by a lemma model where tense and aspect are linked to structural choices in German. Since the architecture of this lemma model is not consistent with results from English, a connectionist model was developed which could explain the cross-linguistic variation in the production system. Together, these findings support the view that language learning plays an important role in determining the nature of structural priming in different languages

Abstract

Studies on children’s use of intonation in reference are few in number but are diverse in terms of theoretical frameworks and intonational parameters. In the current review, I present a re-analysis of the referents in each study, using a three-dimension approach (i.e. referential givenness-newness, relational givenness-newness, contrast), discuss the use of intonation at two levels (phonetic, phonological), and compare findings from different studies within a single framework. The patterns stemming from these studies may be limited in generalisability but can serve as initial hypotheses for future work. Furthermore, I examine the role of input as available in infant direct speech in the acquisition of intonational encoding of referents. In addition, I discuss how future research can advance our knowledge.

Abstract

While detecting genetic variations underlying brain structures helps reveal mechanisms of neural disorders, high data dimensionality poses a major challenge for imaging genomic association studies. In this work, we present the application of a recently proposed approach, parallel independent component analysis with reference (pICA-R), to investigate genomic factors potentially regulating gray matter variation in a healthy population. This approach simultaneously assesses many variables for an aggregate effect and helps to elicit particular features in the data. We applied pICA-R to analyze gray matter density (GMD) images (274,131 voxels) in conjunction with single nucleotide polymorphism (SNP) data (666,019 markers) collected from 1,256 healthy individuals of the Brain Imaging Genetics (BIG) study. Guided by a genetic reference derived from the gene GNA14, pICA-R identified a significant SNP-GMD association (r = −0.16, P = 2.34 × 10−8), implying that subjects with specific genotypes have lower localized GMD. The identified components were then projected to an independent dataset from the Mind Clinical Imaging Consortium (MCIC) including 89 healthy individuals, and the obtained loadings again yielded a significant SNP-GMD association (r = −0.25, P = 0.02). The imaging component reflected GMD variations in frontal, precuneus, and cingulate regions. The SNP component was enriched in genes with neuronal functions, including synaptic plasticity, axon guidance, molecular signal transduction via PKA and CREB, highlighting the GRM1, PRKCH, GNA12, and CAMK2B genes. Collectively, our findings suggest that GNA12 and GNA14 play a key role in the genetic architecture underlying normal GMD variation in frontal and parietal regions

Abstract

RNA interference (RNAi) is a set of mechanisms which regulate gene expression in eukaryotes. Key elements of RNAi are small sense and antisense RNAs from 19 to 26 nucleotides generated from double-stranded RNAs. miRNAs are a major type of RNAi-associated small RNAs and are found in most eukaryotes studied to date. To investigate whether small RNAs associated with RNAi appear to be present in all eukaryotic lineages, and therefore present in the ancestral eukaryote, we studied two deep-branching protozoan parasites, Giardia intestinalis and Trichomonas vaginalis. Little is known about endogenous small RNAs involved in RNAi of these organisms. Using Illumina Solexa sequencing and genome-wide analysis of small RNAs from these distantly related deep-branching eukaryotes, we identified 10 strong miRNA candidates from Giardia and 11 from Trichomonas. We also found evidence of Giardia siRNAs potentially involved in the expression of variant-specific-surface proteins. In addition, 8 new snoRNAs from Trichomonas are identified. Our results indicate that miRNAs are likely to be general in ancestral eukaryotes, and therefore are likely to be a universal feature of eukaryotes.

Abstract

This paper investigates L2 learners’ use of intonation in reference maintenance in comparison to native speakers at three longitudinal points. Nominal referring expressions were elicited from two untutored Turkish learners of Dutch and five native speakers of Dutch via a film retelling task, and were analysed in terms of pitch span and word duration. Effects of two types of change in information states were examined, between new and given and between new and accessible. We found native-like use of word duration in both types of change early on but different performances between learners and development over time in one learner in the use of pitch span. Further, the use of morphosyntactic devices had different effects on the two learners. The inter-learner differences and late systematic use of pitch span, in spite of similar use of pitch span in learners’ L1 and L2, suggest that learning may play a role in the acquisition of intonation as a device for reference maintenance.

Abstract

In the current paper, we asked at what level in the speech planning process speakers retrieve stored syllables. There is evidence that syllable structure plays an essential role in the phonological encoding of words (e.g., online syllabification and phonological word formation). There is also evidence that syllables are retrieved as whole units. However, findings that clearly pinpoint these effects to specific levels in speech planning are scarce. We used a naming variant of the implicit priming paradigm to contrast voice onset latencies for frequency-manipulated disyllabic Dutch pseudo-words. While prior implicit priming studies only manipulated the item's form and/or syllable structure overlap we introduced syllable frequency as an additional factor. If the preparation effect for syllables obtained in the implicit priming paradigm proceeds beyond phonological planning, i.e., includes the retrieval of stored syllables, then the preparation effect should differ for high- and low frequency syllables. The findings reported here confirm this prediction: Low-frequency syllables benefit significantly more from the preparation than high-frequency syllables. Our findings support the notion of a mental syllabary at a post-lexical level, between the levels of phonological and phonetic encoding.

Abstract

The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals’ cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency

Abstract

Language and action systems are highly interlinked. A critical piece of evidence is that speech and its accompanying gestures are tightly synchronized. Five experiments were conducted to test 2 hypotheses about the synchronization of speech and gesture. According to the interactive view, there is continuous information exchange between the gesture and speech systems, during both their planning and execution phases. According to the ballistic view, information exchange occurs only during the planning phases of gesture and speech, but the 2 systems become independent once their execution has been initiated. In all experiments, participants were required to point to and/or name a light that had just lit up. Virtual reality and motion tracking technologies were used to disrupt their gesture or speech execution. Participants delayed their speech onset when their gesture was disrupted. They did so even when their gesture was disrupted at its late phase and even when they received only the kinesthetic feedback of their gesture. Also, participants prolonged their gestures when their speech was disrupted. These findings support the interactive view and add new constraints on models of speech and gesture production

Abstract

Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.

Abstract

Our knowledge of RNA biology within eukaryotes has exploded over the last five years. Within new research we see that some features that were once thought to be part of multicellular life have now been identified in several protist lineages. Hence, it is timely to ask which features of eukaryote RNA biology are ancestral to all eukaryotes. We focus on RNA-based regulation and epigenetic mechanisms that use small regulatory ncRNAs and long ncRNAs, to highlight some of the many questions surrounding eukaryotic ncRNA evolution.

Abstract

Contemporary methods of computational cognitive modeling have recently been criticized by Addyman and French (2012) on the grounds that they have not kept up with developments in computer technology and human–computer interaction. They present a manifesto for change according to which, it is argued, modelers should devote more effort to making their models accessible, both to non-modelers (with an appropriate easy-to-use user interface) and modelers alike. We agree that models, like data, should be freely available according to the normal standards of science, but caution against confusing implementations with specifications. Models may embody theories, but they generally also include implementation assumptions. Cognitive modeling methodology needs to be sensitive to this. We argue that specification, replication and experimentation are methodological approaches that can address this issue.

Abstract

Speech processing can often take place in adverse listening conditions that involve the mixing of speech and background noise. In this study, we investigated processing dependencies between background noise and indexical speech features, using a speeded classification paradigm (Garner, 1974; Exp. 1), and whether background noise is encoded and represented in memory for spoken words in a continuous recognition memory paradigm (Exp. 2). Whether or not the noise spectrally overlapped with the speech signal was also manipulated. The results of Experiment 1 indicated that background noise and indexical features of speech (gender, talker identity) cannot be completely segregated during processing, even when the two auditory streams are spectrally nonoverlapping. Perceptual interference was asymmetric, whereby irrelevant indexical feature variation in the speech signal slowed noise classification to a greater extent than irrelevant noise variation slowed speech classification. This asymmetry may stem from the fact that speech features have greater functional relevance to listeners, and are thus more difficult to selectively ignore than background noise. Experiment 2 revealed that a recognition cost for words embedded in different types of background noise on the first and second occurrences only emerged when the noise and the speech signal were spectrally overlapping. Together, these data suggest integral processing of speech and background noise, modulated by the level of processing and the spectral separation of the speech and noise.

Abstract

Importance
Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective
To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources
Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing.

Study Selection
Studies investigating the sex ratio in individuals with ABCA4-AR and data from centers that collected ABCA4 variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023.

Data Extraction and Synthesis
Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with ABCA4-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ2 Tests were conducted to compare the proportions of women in adult-onset autosomal non–ABCA4-associated retinopathy and adult-onset ABCA4-associated retinopathy and to investigate if women with suspected ABCA4-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023.

Main Outcomes and Measures
Proportion of women per ABCA4-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with ABCA4-associated retinopathy vs those with other autosomal retinopathies and for individuals with ABCA4-associated retinopathy who underwent genetic testing vs those who did not.

Results
Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; P < .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; P = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with ABCA4-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47).

Conclusions and Relevance
This meta-analysis supports the likelihood that sex is a modifier in developing ABCA4-associated retinopathy for individuals with a mild ABCA4 allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with ABCA4-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care–seeking behavior, or by health care discrimination between women and men with ABCA4-AR.

Abstract

To answer a question, speakers must determine their response and formulate it in words. But do they decide on a response before formulation, or do they formulate different potential answers before selecting one? We addressed this issue in a verbal question-answering experiment. Participants answered questions more quickly when they had one potential answer (e.g., Which tourist attraction in Paris is very tall?) than when they had multiple potential answers (e.g., What is the name of a Shakespeare play?). Participants also answered more quickly when the set of potential answers were on average short rather than long, regardless of whether there was only one or multiple potential answers. Thus, participants were not affected by the linguistic complexity of unselected but plausible answers. These findings suggest that participants select a single answer before formulation.

Abstract

In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.

Abstract

Single nucleotide polymorphisms (SNPs) within the MIR137, TCF4, and ZNF804A genes show genome-wide association to schizophrenia. However, the biological basis for the associations is unknown. Here, we tested the effects of these genes on brain structure in 1300 healthy adults. Using volumetry and voxel-based morphometry, neither gene-wide effects—including the combined effect of the genes—nor single SNP effects—including specific psychosis risk SNPs—were found on total brain volume, grey matter, white matter, or hippocampal volume. These results suggest that the associations between these risk genes and schizophrenia are unlikely to be mediated via effects on macroscopic brain structure.

Abstract

The present study investigated the neural correlates of infant discrimination of very similar linguistic varieties (Quebecois and Parisian French) using functional Near InfraRed Spectroscopy. In line with previous behavioral and electrophysiological data, there was no evidence that 3-month-olds discriminated the two regional accents, whereas 5-month-olds did, with the locus of discrimination in left anterior perisylvian regions. These neuroimaging results suggest that a developing language network relying crucially on left perisylvian cortices sustains infants' discrimination of similar linguistic varieties within this early period of infancy.

Abstract

There are increasing reports that individual variation in behavioral and neurophysiological measures of infant speech processing predicts later language outcomes, and specifically concurrent or subsequent vocabulary size. If such findings are held up under scrutiny, they could both illuminate theoretical models of language development and contribute to the prediction of communicative disorders. A qualitative, systematic review of this emergent literature illustrated the variety of approaches that have been used and highlighted some conceptual problems regarding the measurements. A quantitative analysis of the same data established that the bivariate relation was significant, with correlations of similar strength to those found for well-established nonlinguistic predictors of language. Further exploration of infant speech perception predictors, particularly from a methodological perspective, is recommended.

Abstract

Typically, the point vowels [i,ɑ,u] are acoustically more peripheral in infant-directed speech (IDS) compared to adult-directed speech (ADS). If caregivers seek to highlight lexically relevant contrasts in IDS, then two sounds that are contrastive should become more distinct, whereas two sounds that are surface realizations of the same underlying sound category should not. To test this prediction, vowels that are phonemically contrastive ([i-ɪ] and [eɪ-ε]), vowels that map onto the same underlying category ([æ- ] and [ε- ]), and the point vowels [i,ɑ,u] were elicited in IDS and ADS by American English mothers of two age groups of infants (four- and eleven-month-olds). As in other work, point vowels were produced in more peripheral positions in IDS compared to ADS. However, there was little evidence of hyperarticulation per se (e.g. [i-ɪ] was hypoarticulated). We suggest that across-the-board lexically based hyperarticulation is not a necessary feature of IDS.

Abstract

Social tolerance is a core aspect of primate social relationships with implications for the evolution of cooperation, prosociality and social learning. We measured the social tolerance of bonobos in an experiment recently validated with chimpanzees to allow for a comparative assessment of group-level tolerance, and found that the bonobo group studied here exhibited lower social tolerance on average than chimpanzees. Furthermore, following the Relational Model [de Waal, 1996], we investigated whether bonobos responded to an increased potential for social conflict with tolerance, conflict avoidance or conflict escalation, and found that only behaviours indicative of conflict escalation differed across conditions. Taken together, these findings contribute to the current debate over the level of social tolerance of bonobos and lend support to the position that the social tolerance of bonobos may not be notably high compared with other primates.

Abstract

This study tested the hypothesis that cooperative breeding facilitates the emergence of prosocial behavior by presenting cottontop tamarins (Saguinus oedipus) with the option to provide food rewards to pair-bonded mates. In Experiment 1, tamarins could provide rewards to mates at no additional cost while obtaining rewards for themselves. Contrary to the hypothesis, tamarins did not demonstrate a preference to donate rewards, behaving similar to chimpanzees in previous studies. In Experiment 2, the authors eliminated rewards for the donor for a stricter test of prosocial behavior, while reducing separation distress and food preoccupation. Again, the authors found no evidence for a donation preference. Furthermore, tamarins were significantly less likely to deliver rewards to mates when the mate displayed interest in the reward. The results of this study contrast with those recently reported for cooperatively breeding common marmosets, and indicate that prosocial preferences in a food donation task do not emerge in all cooperative breeders. In previous studies, cottontop tamarins have cooperated and reciprocated to obtain food rewards; the current findings sharpen understanding of the boundaries of cottontop tamarins’ food-provisioning behavior.

Abstract

Studies of animal behavior consistently demonstrate that the social environment impacts cooperation, yet the effect of social dynamics has been largely excluded from studies of human cooperation. Here, we introduce a novel approach inspired by nonhuman primate research to address how social hierarchies impact human cooperation. Participants competed to earn hierarchy positions and then could cooperate with another individual in the hierarchy by investing in a common effort. Cooperation was achieved if the combined investments exceeded a threshold, and the higher ranked individual distributed the spoils unless control was contested by the partner. Compared to a condition lacking hierarchy, cooperation declined in the presence of a hierarchy due to a decrease in investment by lower ranked individuals. Furthermore, hierarchy was detrimental to cooperation regardless of whether it was earned or arbitrary. These findings mirror results from nonhuman primates and demonstrate that hierarchies are detrimental to cooperation. However, these results deviate from nonhuman primate findings by demonstrating that human behavior is responsive to changing hierarchical structures and suggests partnership dynamics that may improve cooperation. This work introduces a controlled way to investigate the social influences on human behavior, and demonstrates the evolutionary continuity of human behavior with other primate species.