Publications

Abstract

Structural imaging based on computerized tomography (CT) and magnetic resonance imaging (MRI) has progressively replaced traditional post‐mortem studies in the process of identifying the neuroanatomical basis of language. In the clinical setting, the information provided by structural imaging has been used to confirm the exact diagnosis and formulate an individualized treatment plan. In the research arena, neuroimaging has permitted to understand neuroanatomy at the individual and group level. The possibility to obtain quantitative measures of lesions has improved correlation analyses between severity of symptoms, lesion load, and lesion location. More recently, the development of structural imaging based on diffusion MRI has provided valid solutions to two major limitations of more conventional imaging. In stroke patients, diffusion can visualize early changes due to a stroke that are otherwise not detectable with more conventional structural imaging, with important implications for the clinical management of acute stroke patients. Beyond the sensitivity to early changes, diffusion imaging tractography presents the possibility of visualizing the trajectories of individual white matter pathways connecting distant regions. A pathway analysis based on tractography is offering a new perspective in neurolinguistics. First, it permits to formulate new anatomical models of language function in the healthy brain and allows to directly test these models in the human population without any reliance on animal models. Second, by defining the exact location of the damage to specific white matter connections we can understand the contribution of different mechanisms to the emergence of language deficits (e.g., cortical versus disconnection mechanisms). Finally, a better understanding of the anatomical variability of different language networks is helping to identify new anatomical predictors of language recovery. In this chapter we will focus on the principles of structural MRI and, in particular, diffusion imaging and tractography and present examples of how these methods have informed our understanding of variance in language performances in the healthy brain and language deficits in patient populations.

Abstract

Accurate reconstruction of prehistoric social organization is important if we are to put together satisfactory multidisciplinary scenarios about, for example, the dispersal of human groups. Such considerations apply in the case of Indo-European and Austronesian, two large-scale language families that are thought to represent Neolithic expansions. Ancestral kinship patterns have mostly been inferred through reconstruction of kin terminologies in ancestral proto-languages using the linguistic comparative method, and through geographical or distributional arguments based on the comparative patterns of kin terms and ethnographic kinship ‘facts’. While these approaches are detailed and valuable, the processes through which conclusions have been drawn from the data fail to provide explicit criteria for systematic testing of alternative hypotheses. Here, we use language trees derived using phylogenetic tree-building techniques on Indo-European and Austronesian vocabulary data. With these trees, ethnographic data and Bayesian phylogenetic comparative methods, we statistically reconstruct past marital residence and infer rates of cultural change between different residence forms, showing Proto-Indo-European to be virilocal and Proto-Malayo-Polynesian uxorilocal. The instability of uxorilocality and the rare loss of virilocality once gained emerge as common features of both families

Abstract

An MEG experiment was carried out in order to compare the processing of lexical-tonal and intonational contrasts, based on the tonal dialect of Roermond (the Netherlands). A set of words with identical phoneme sequences but distinct pitch contours, which represented different lexical meanings or discourse meanings (statement vs. question), were presented to native speakers as well as to a control group of speakers of Standard Dutch, a non-tone language. The stimuli were arranged in a mismatch paradigm, under three experimental conditions: in the first condition (lexical), the pitch contour differences between standard and deviant stimuli reflected differences between lexical meanings; in the second condition (intonational), the stimuli differed in their discourse meaning; in the third condition (combined), they differed both in their lexical and discourse meaning. In all three conditions, native as well as non-native responses showed a clear MMNm (magnetic mismatch negativity) in a time window from 150 to 250 ms after the divergence point of standard and deviant pitch contours. In the lexical condition, a stronger response was found over the left temporal cortex of native as well as non-native speakers. In the intonational condition, the same activation pattern was observed in the control group, but not in the group of native speakers, who showed a right-hemisphere dominance instead. Finally, in the combined (lexical and intonational) condition, brain reactions appeared to represent the summation of the patterns found in the other two conditions. In sum, the lateralization of pitch processing is condition-dependent in the native group only, which suggests that language experience determines how processes should be distributed over both temporal cortices, according to the functions available in the grammar.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's social categorization (out-group member) affect memory and the credibility of the message (e.g., less trustworthiness). In the present study, we go one step further and ask whether evaluations of messages are also affected by regional accents—accents from a different region than the listener. In the current study, we report results from three experiments on immediate memory recognition and immediate credibility assessments as well as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same region as the participant—and regional accents—from native speakers of a different country than the participants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the
messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's
social categorization (out-group member) affect memory and the credibility of the message (e.g., less trust-
worthiness). In the present study, we go one step further and ask whether evaluations of messages are also
affected by regional accents—accents from a different region than the listener. In the current study, we report
results from three experiments on immediate memory recognition and immediate credibility assessments as well
as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same
region as the participant—and regional accents—from native speakers of a different country than the partici-
pants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by
accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The aim of the present fMRI study was to investigate whether typical and dyslexic adult readers differed in the neural correlates of audiovisual speech processing. We tested for Blood Oxygen-Level Dependent (BOLD) activity differences between these two groups in a 1-back task, as they processed written (word, illegal consonant strings) and spoken (auditory, visual and audiovisual) stimuli. When processing written stimuli, dyslexic readers showed reduced activity in the supramarginal gyrus, a region suggested to play an important role in phonological processing, but only when they processed strings of consonants, not when they read words. During the speech perception tasks, dyslexic readers were only slower than typical readers in their behavioral responses in the visual speech condition. Additionally, dyslexic readers presented reduced neural activation in the auditory, the visual, and the audiovisual speech conditions. The groups also differed in terms of superadditivity, with dyslexic readers showing decreased neural activation in the regions of interest. An additional analysis focusing on vision-related processing during the audiovisual condition showed diminished activation for the dyslexic readers in a fusiform gyrus cluster. Our results thus suggest that there are differences in audiovisual speech processing between dyslexic and normal readers. These differences might be explained by difficulties in processing the unisensory components of audiovisual speech, more specifically, dyslexic readers may benefit less from visual information during audiovisual speech processing than typical readers. Given that visual speech processing supports the development of phonological skills fundamental in reading, differences in processing of visual speech could contribute to differences in reading ability between typical and dyslexic readers.

Abstract

Population-based linkage analysis is a new method for analysing genomewide single nucleotide polymorphism (SNP) genotype data in case-control samples, which does not assume a common disease, common variant model. The genome is scanned for extended segments that show increased identity-by-descent sharing within case-case pairs, relative to case-control or control-control pairs. The method is robust to allelic heterogeneity and is suited to mapping genes which contain multiple, rare susceptibility variants of relatively high penetrance. We analysed genomewide SNP datasets for two schizophrenia case-control cohorts, collected in Aberdeen (461 cases, 459 controls) and Munich (429 cases, 428 controls). Population-based linkage testing must be performed within homogeneous samples and it was therefore necessary to analyse the cohorts separately. Each cohort was first subjected to several procedures to improve genetic homogeneity, including identity-by-state outlier detection and multidimensional scaling analysis. When testing only cases who reported a positive family history of major psychiatric disease, consistent with a model of strongly penetrant susceptibility alleles, we saw a distinct peak on chromosome 19q in both cohorts that appeared in meta-analysis (P=0.000016) to surpass the traditional level for genomewide significance for complex trait linkage. The linkage signal was also present in a third case-control sample for familial bipolar disorder, such that meta-analysing all three datasets together yielded a linkage P=0.0000026. A model of rare but highly penetrant disease alleles may be more applicable to some instances of major psychiatric diseases than the common disease common variant model, and we therefore suggest that other genome scan datasets are analysed with this new, complementary method.

Abstract

Results from a recent neuroimaging study on spoken sentence comprehension have been interpreted as evidence for cortical entrainment to hierarchical syntactic structure. We present a simple computational model that predicts the power spectra from this study, even
though the model's linguistic knowledge is restricted to the lexical level, and word-level representations are not combined into higher-level units (phrases or sentences). Hence, the
cortical entrainment results can also be explained from the lexical properties of the stimuli, without recourse to hierarchical syntax.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders with a worldwide prevalence around 4–5% in children and 1–4% in adults. Although ADHD is highly heritable and familial risk may contribute most strongly to the persistent form of the disorder, there are few studies on the genetics of ADHD in adults. In this paper, we present the first results of the International Multicentre Persistent ADHD Genetics CollaboraTion (IMpACT) that has been set up with the goal of performing research into the genetics of persistent ADHD. In this study, we carried out a combined analysis as well as a meta-analysis of the association of the SLC6A3/DAT1 gene with persistent ADHD in 1440 patients and 1769 controls from IMpACT and an earlier report. DAT1, encoding the dopamine transporter, is one of the most frequently studied genes in ADHD, though results have been inconsistent. A variable number tandem repeat polymorphism (VNTR) in the 3′-untranslated region (UTR) of the gene and, more recently, a haplotype of this VNTR with another VNTR in intron 8 have been the target of most studies. Although the 10/10 genotype of the 3′-UTR VNTR and the 10-6 haplotype of the two VNTRs are thought to be risk factors for ADHD in children, we found the 9/9 genotype and the 9-6 haplotype associated with persistent ADHD. In conclusion, a differential association of DAT1 with ADHD in children and in adults might help explain the inconsistencies observed in earlier association studies. However, the data might also imply that DAT1 has a modulatory rather than causative role in ADHD.

Abstract

A spelling disorder that received much attention recently is the so-called graphemic buffer impairment. Caramazza et al. (1987) presented the first systematic case study of a patient with this disorder. Miceli & Capasso (2006) provide an extensive overview of the relevant literature. This article adds to the literature by describing a Dutch case, i.e. patient BM. We demonstrate how specific features of Dutch and Dutch orthography interact with the graphemic buffer impairment. In addition, we paid special attention to the influence of grapheme position on the patient’s spelling accuracy. For this we used, in contrast with most of the previous literature, the proportional accountability method described in Machtynger & Shallice (2009). We show that by using this method the underlying error distribution can be more optimally captured than with classical methods. The result of this analysis replicates two distributions that have been previously reported in the literature. Finally, attention will be paid to the role of phonology in the described disorder.

Abstract

When talking, speakers continuously monitor and use the auditory feedback of their own voice to control and inform speech production processes. When speakers are provided with auditory feedback that is perturbed in real time, most of them compensate for this by opposing the feedback perturbation. But some speakers follow the perturbation. In the current study, we investigated whether the state of the speech production system at perturbation onset may determine what type of response (opposing or following) is given. The results suggest that whether a perturbation-related response is opposing or following depends on ongoing fluctuations of the production system: It initially responds by doing the opposite of what it was doing. This effect and the non-trivial proportion of following responses suggest that current production models are inadequate: They need to account for why responses to unexpected sensory feedback depend on the production-system’s state at the time of perturbation.

Abstract

Speaking is a complex motor skill which requires near instantaneous integration of sensory and motor-related information. Current theory hypothesizes a complex interplay between motor and auditory processes during speech production, involving the online comparison of the speech output with an internally generated forward model. To examine the neural correlates of this intricate interplay between sensory and motor processes, the current study uses altered auditory feedback (AAF) in combination with magnetoencephalography (MEG). Participants vocalized the vowel/e/and heard auditory feedback that was temporarily pitch-shifted by only 25 cents, while neural activity was recorded with MEG. As a control condition, participants also heard the recordings of the same auditory feedback that they heard in the first half of the experiment, now without vocalizing. The participants were not aware of any perturbation of the auditory feedback. We found auditory cortical areas responded more strongly to the pitch shifts during vocalization. In addition, auditory feedback perturbation resulted in spectral power increases in the θ and lower β bands, predominantly in sensorimotor areas. These results are in line with current models of speech production, suggesting auditory cortical areas are involved in an active comparison between a forward model's prediction and the actual sensory input. Subsequently, these areas interact with motor areas to generate a motor response. Furthermore, the results suggest that θ and β power increases support auditory-motor interaction, motor error detection and/or sensory prediction processing.

Abstract

To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.

Abstract

Mutations in the human FOXP2 gene cause impaired speech development and linguistic deficits, which have been best characterised in a large pedigree called the KE family. The encoded protein is highly conserved in many vertebrates and is expressed in homologous brain regions required for sensorimotor integration and motor-skill learning, in particular corticostriatal circuits. Independent studies in multiple species suggest that the striatum is a key site of FOXP2 action. Here, we used in vivo recordings in awake-behaving mice to investigate the effects of the KE-family mutation on the function of striatal circuits during motor-skill learning. We uncovered abnormally high ongoing striatal activity in mice carrying an identical mutation to that of the KE family. Furthermore, there were dramatic alterations in striatal plasticity during the acquisition of a motor skill, with most neurons in mutants showing negative modulation of firing rate, starkly contrasting with the predominantly positive modulation seen in control animals. We also observed striking changes in the temporal coordination of striatal firing during motor-skill learning in mutants. Our results indicate that FOXP2 is critical for the function of striatal circuits in vivo, which are important not only for speech but also for other striatal-dependent skills.

Abstract

Sleep plays an important role in neural reorganisation which underpins memory consolidation. The gradual replacement of
hippocampal binding of new memories with intracortical connections helps to link new memories to existing knowledge. This process appears to be faster for memories which fit more easily into existing schemas. Here we seek to investigate whether this more rapid consolidation of schema-conformant information is facilitated by
sleep, and the neural basis of this process.

Abstract

This paper investigates the lexical semantics and relative distributions of verbs describing putting and taking events in Kuuk Thaayorre, a Pama-Nyungan language of Cape York (Australia). Thaayorre put/take verbs can be subcategorised according to whether they may combine with an NP encoding a goal, an NP encoding a source, or both. Goal NPs are far more frequent in natural discourse: initial analysis shows 85% of goal-oriented verb tokens to be accompanied by a goal NP, while only 31% of source-oriented verb tokens were accompanied by a source. This finding adds weight to Ikegami’s (1987) assertion of the conceptual primacy of goals over sources, reflected in a cross-linguistic dissymmetry whereby goal-marking is less marked and more widely used than source-marking.

Abstract

As the popularity of sending messages electronically increases, so does the necessity of conveying messages more efficiently. One way of increasing efficiency is to abbreviate words and expressions by combining letters with numbers such as gr8 for “great,” using acronyms, such as lol for “laughing out loud,” or clippings such as msg for “message.” The present study compares the processing of shortcuts to the processing of closely matched pseudo-shortcuts. ERPs were recorded while participants were performing a lexical decision task. Response times showed that shortcuts were categorized more slowly as nonwords than pseudo-shortcuts. The ERP results showed no differences between shortcuts and pseudo-shortcuts at time windows 50–150 ms and 150–270 ms, but there were significant differences between 270 and 500 ms. These results suggest that at early stages of word recognition, the orthographic and phonological processing is similar for shortcuts and pseudo-shortcuts. However, at the time of lexical access, shortcuts diverge from pseudo-shortcuts, suggesting that shortcuts activate stored lexical representations.

Abstract

The current event-related brain potential study examined the processing of observed speech errors.
Participants were asked to detect errors in the speech of others while listening to the description of a visual
network. Networks consisted of colored drawings of objects connected by straight or curved lines. We
investigated the processing of two types of errors in the network descriptions, i.e., incorrect color and errors
in determiners usage (gender agreement violations). In the 100- to 300-ms and 300- to 550-ms time
windows, we found larger PMN and N400 amplitudes for both color and determiner error trials compared to
correct trials. Furthermore, color but not determiner errors led to larger P600 amplitudes compared to
correct color trials. Color errors also showed enhanced P600 amplitudes compared to determiner errors.
Taken together, processing erroneous network descriptions elicits different brain potentials than listening to
the corresponding correct utterances. Hence, speech is monitored for errors not only during speech
production but also during listening to the naturally occurring speech of others.

Abstract

Many contemporary texts include shortcuts, such as cu or phones4u. The aim of this study was to investigate how the meanings of shortcuts are retrieved. A primed lexical decision paradigm was used with shortcuts and the corresponding words as primes. The target word was associatively related to the meaning of the whole prime (cu/see you – goodbye), to a component of the prime (cu/see you – look), or unrelated to the prime. In Experiment 1, primes were presented for 57 ms. For both word and shortcut primes, responses were faster to targets preceded by whole-related than by unrelated primes. No priming from component-related primes was found. In Experiment 2, the prime duration was 1000 ms. The priming effect seen in Experiment 1 was replicated. Additionally, there was priming from component-related word primes, but not from component-related shortcut primes. These results indicate that the meanings of shortcuts can be retrieved without translating them first into corresponding words.

Abstract

For efficiency reasons, words in electronic messages are sometimes formed by combining letters with numbers, as in gr8 for “great.” The aim of this study was to investigate whether a digit incorporated into a letter—digit shortcut would retain its numerosity. A priming paradigm was used with letter—digit shortcuts (e.g., gr8) and matched pseudoshortcuts (e.g., qr8) as primes. The primes were presented simultaneously with sets of dots (targets) for which even/odd decisions were required, or they appeared 250 msec before target onset. When pseudoshortcuts were presented, decision latencies were shorter when the target and the digit in the prime were matched in parity than when they were mismatched. This main effect of match was not significant for shortcuts. The results suggest that the number concepts of digits combined with letters become activated but are quickly suppressed or deactivated when the digit is part of an existing shortcut.

Abstract

The effortfulness hypothesis implies that difficulty in decoding the surface form, as in the case of age-related sensory limitations or background noise, consumes the attentional resources that are then unavailable for semantic integration in language comprehension. Because ageing is associated with sensory declines, degrading of the surface form by a noisy background can pose an extra challenge for older adults. In two experiments, this hypothesis was tested in a self-paced moving window paradigm in which younger and older readers' online allocation of attentional resources to surface decoding and semantic integration was measured as they read sentences embedded in varying levels of visual noise. When visual noise was moderate (Experiment 1), resource allocation among young adults was unaffected but older adults allocated more resources to decode the surface form at the cost of resources that would otherwise be available for semantic processing; when visual noise was relatively intense (Experiment 2), both younger and older participants allocated more attention to the surface form and less attention to semantic processing. The decrease in attentional allocation to semantic integration resulted in reduced recall of core ideas in both experiments, suggesting that a less organized semantic representation was constructed in noise. The greater vulnerability of older adults at relatively low levels of noise is consistent with the effortfulness hypothesis.

Abstract

Resource-constrained models of language processing predict that perceptual simulation during language understanding would be compromised by sensory limitations (such as reading text in unfamiliar/difficult font), whereas strong versions of embodied theories of language would predict that simulating perceptual symbols in language would not be impaired even under sensory-constrained situations. In 2 experiments, sensory decoding difficulty was manipulated by using easy and hard fonts to study perceptual simulation during sentence reading (Zwaan, Stanfield, & Yaxley, 2002). Results indicated that simulating perceptual symbols in language was not compromised by surface-form decoding challenges such as difficult font, suggesting relative resilience of embodied language processing in the face of certain sensory constraints. Further implications for learning from text and individual differences in language processing will be discussed

Abstract

This article investigates the word order preferences of Tagalog-speaking adults and five- and seven-year-old children. The participants were asked to complete sentences to describe pictures depicting actions between two animate entities. Adults preferred agent-initial constructions in the patient voice but not in the agent voice, while the children produced mainly agent-initial constructions regardless of voice. This agent-initial preference, despite the lack of a close link between the agent and the subject in Tagalog, shows that this word order preference is not merely syntactically-driven (subject-initial preference). Additionally, the children’s agent-initial preference in the agent voice, contrary to the adults’ lack of preference, shows that children do not respect the subject-last principle of ordering Tagalog full noun phrases. These results suggest that language-specific optional features like a subject-last principle take longer to be acquired.

Abstract

Heterozygous mutations of the human FOXP2 gene are implicated in a severe speech and language disorder. Aetiological mutations of murine Foxp2 yield abnormal synaptic plasticity and impaired motor-skill learning in mutant mice, while knockdown of the avian orthologue in songbirds interferes with auditory-guided vocal learning. Here, we investigate influences of two distinct Foxp2 point mutations on vocalizations of 4-day-old mouse pups (Mus musculus). The R552H missense mutation is identical to that causing speech and language deficits in a large well-studied human family, while the S321X nonsense mutation represents a null allele that does not produce Foxp2 protein. We ask whether vocalizations, based solely on innate mechanisms of production, are affected by these alternative Foxp2 mutations. Sound recordings were taken in two different situations: isolation and distress, eliciting a range of call types, including broadband vocalizations of varying noise content, ultrasonic whistles and clicks. Sound production rates and several acoustic parameters showed that, despite absence of functional Foxp2, homozygous mutants could vocalize all types of sounds in a normal temporal pattern, but only at comparably low intensities. We suggest that altered vocal output of these homozygotes may be secondary to developmental delays and somatic weakness. Heterozygous mutants did not differ from wild-types in any of the measures that we studied (R552H ) or in only a few (S321X ), which were in the range of differences routinely observed for different mouse strains. Thus, Foxp2 is not essential for the innate production of emotional vocalizations with largely normal acoustic properties by mouse pups.

Abstract

This article presents information about two so far undescribed buildings made by the Trobriand Islanders, the bomiyoyeva and the bomduvadova. These structures are connected to the highest-ranking chiefs living in Labai and Omarakana on Kiriwina Island. They highlight the power and eminence of these chiefs. After a brief report on the history of this project, the structure of the two houses, their function, and their use is described and information on their construction and their mythical background is provided. Finally, everyday as well as ritual, social, and political functions of both buildings are discussed. [Melanesia, Trobriand Islands, Tabalu chiefs, yams houses, bomiyoyeva, bomduvadova, authoritative capacities]

Abstract

An endophenotype for attention deficit/hyperactivity disorder (AD/HD) is executive functioning. In the autism and developmental literature executive dysfunctions has also been linked to theory of mind (ToM) and pragmatic language use. The central question of this review is whether deficits in ToM and pragmatic language use are common in AD/HD. AD/HD seems to be associated with pragmatic deficits, but not with ToM deficits. In this review we address how this pattern of findings might facilitate the understanding of the commonalities and differences between executive functioning, ToM, and pragmatic abilities. Based on the reviewed studies we conclude that ToM is not likely to be a potential endophenotype for AD/HD, while it is too early to draw such a conclusion for pragmatic language use.

Abstract

A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.

Abstract

In principle mutational records make it possible to estimate frequencies of disease alleles (q) for autosomal recessive disorders using a novel approach based on the calculation of the Homozygosity Index (HI), i.e., the proportion of homozygous patients, which is complementary to the proportion of compound heterozygous patients P(CH). In other words, the rarer the disorder, the higher will be the HI and the lower will be the P(CH). To test this hypothesis we used mutational records of individuals affected with Familial Mediterranean Fever (FMF) and Phenylketonuria (PKU), born to either consanguineous or apparently unrelated parents from six population samples of the Mediterranean region. Despite the unavailability of precise values of the inbreeding coefficient for the general population, which are needed in the case of apparently unrelated parents, our estimates of q are very similar to those of previous descriptive epidemiological studies. Finally, we inferred from simulation studies that the minimum sample size needed to use this approach is 25 patients either with unrelated or first cousin parents. These results show that the HI can be used to produce a ranking order of allele frequencies of autosomal recessive disorders, especially in populations with high rates of consanguineous marriages.

Abstract

Everyday conversation requires listeners to quickly recognize verbal actions, so-called speech acts, from the underspecified linguistic code and prepare a relevant response within the tight time constraints of turn-taking. The goal of this study was to determine the time-course of speech act recognition by investigating oscillatory EEG activity during comprehension of spoken dialogue. Participants listened to short, spoken dialogues with target utterances that delivered three distinct speech acts (Answers, Declinations, Pre-offers). The targets were identical across conditions at lexico-syntactic and phonetic/prosodic levels but differed in the pragmatic interpretation of the speech act performed. Speech act comprehension was associated with reduced power in the alpha/beta bands just prior to Declination speech acts, relative to Answers and Pre-offers. In addition, we observed reduced power in the theta band during the beginning of Declinations, relative to Answers. Based on the role of alpha and beta desynchronization in anticipatory processes, the results are taken to indicate that anticipation plays a role in speech act recognition. Anticipation of speech acts could be critical for efficient turn-taking, allowing interactants to quickly recognize speech acts and respond within the tight time frame characteristic of conversation. The results show that anticipatory processes can be triggered by the characteristics of the interaction, including the speech act type.

Abstract

BACKGROUND: It is unclear to what extent non-clinical psychotic experiences during childhood and adolescence share underlying aetiological mechanisms with schizophrenia. One candidate mechanism for schizophrenia involves the epigenetic status of the developing fetus, which depends on the internal folate-status of mother and child. Our study examines the relationships between multiple determinants of perinatal folate-status and development of psychotic experiences in adolescence. METHODS: Study participants were up to 5344 mother-child pairs from the Avon Longitudinal Study of Parents and their Children, UK, with information on maternal and/or child MTHFR C677T genotype, maternal folate intake (supplementation at 18/32- weeks gestation; dietary intake at 32- weeks gestation) and psychosis-like symptoms (PLIKS) for children assessed at age 12. RESULTS: Nominal evidence was observed that maternal folate supplementation at 18 weeks increased the odds of PLIKS in children (odds ratio(OR)=1.34; 95%-CI:[1.00;1.76]) and, consistent with this, that children of MTHFR C667T TT homozygous mothers had decreased odds of PLIKS (OR=0.72; 95%CI:[0.50;1.02]; recessive model) with strongest effects in boys (OR=0.44, 95%-CI:[0.22;0.79]; sex-specific p=0.029). None of the reported effects remained significant when corrected for multiple testing. CONCLUSIONS: Overall, this study found no support that maternal/child MTHFR C677T genotype and maternal folate intake during pregnancy contribute to common aetiological pathways that are shared between schizophrenia and non-clinical psychotic symptoms in adolescents, assuming that decreased folate-status increases schizophrenia risk.

Abstract

PURPOSE: Conduct problems and peer effects are among the strongest risk factors for adolescent substance use and problem use. However, it is unclear to what extent the effects of conduct problems and peer behavior interact, and whether adolescents' capacity to refuse the offer of substances may moderate such links. This study was conducted to examine relationships between conduct problems, close friends' substance use, and refusal assertiveness with adolescents' alcohol use problems, tobacco, and marijuana use. METHODS: We studied a population-based sample of 1,237 individuals from the Cardiff Study of All Wales and North West of England Twins aged 11-18 years. Adolescent and mother-reported information was obtained. Statistical analyses included cross-sectional and prospective logistic regression models and family-based permutations. RESULTS: Conduct problems and close friends' substance use were associated with increased adolescents' substance use, whereas refusal assertiveness was associated with lower use of cigarettes, alcohol, and marijuana. Peer substance use moderated the relationship between conduct problems and alcohol use problems, such that conduct problems were only related to increased risk for alcohol use problems in the presence of substance-using friends. This effect was found in both cross-sectional and prospective analyses and confirmed using the permutation approach. CONCLUSIONS: Reduced opportunities for interaction with alcohol-using peers may lower the risk of alcohol use problems in adolescents with conduct problems.

Abstract

This study investigated whether relative lexical proficiency in Dutch and English in child second language (L2) learners is related to executive functioning. Participants were Dutch primary school pupils of three different age groups (4–5, 8–9, and 11–12 years) who either were enrolled in an early-English schooling program or were age-matched controls not on that early-English program. Participants performed tasks that measured switching, inhibition, and working memory. Early-English program pupils had greater knowledge of English vocabulary and more balanced Dutch–English lexicons. In both groups, lexical balance, a ratio measure obtained by dividing vocabulary scores in English by those in Dutch, was related to switching but not to inhibition or working memory performance. These results show that for children who are learning an L2 in an instructional setting, and for whom managing two languages is not yet an automatized process, language balance may be more important than L2 proficiency in influencing the relation between childhood bilingualism and switching abilities.

Abstract

Adopting the paradigm of a study conducted with chimpanzees, Pan troglodytes (Melis et al. 2006, Journal of Comparative Psychology, 120, 154–162), we investigated orang-utans', Pongo pygmaeus, understanding of others' visual perspectives. More specifically, we examined whether orang-utans would adjust their behaviour in a way that prevents a human competitor from seeing them steal a piece of food. In the task, subjects had to reach through one of two opposing Plexiglas tunnels in order to retrieve a food reward. Both rewards were also physically accessible to a human competitor sitting opposite the subject. Subjects always had the possibility of reaching one piece of food that was outside the human's line of sight. This was because either the human was oriented to one, but not the other, reward or because one tunnel was covered by an opaque barrier and the other remained transparent. In the situation in which the human was oriented towards one reward, the orang-utans successfully avoided the tunnel that the competitor was facing. If one tunnel was covered, they marginally preferred to reach through the opaque versus the transparent tunnel. However, they did so frequently after initially inspecting the transparent tunnel (then switching to the opaque one). Considering only the subjects' initial inspections, they chose randomly between the opaque and transparent tunnel, indicating that their final decision to reach was probably driven by a more egocentric behavioural rule. Overall the results suggest that orang-utans have a limited understanding of others' perspectives, relying mainly on cues from facial and bodily orientation and egocentric rules when making such judgements.

Abstract

Language in high-functioning autism is characterized by pragmatic and semantic deficits, and people with autism have a reduced tendency to integrate information. Because the left and right inferior frontal (LIF and RIF) regions are implicated with integration of speaker information, world knowledge, and semantic knowledge, we hypothesized that abnormal functioning of the LIF and RIF regions might contribute to pragmatic and semantic language deficits in autism. Brain activation of sixteen 12- to 18-year-old, high-functioning autistic participants was measured with functional magnetic resonance imaging during sentence comprehension and compared with that of twenty-six matched controls. The content of the pragmatic sentence was congruent or incongruent with respect to the speaker characteristics (male/female, child/adult, and upper class/lower class). The semantic- and world-knowledge sentences were congruent or incongruent with respect to semantic expectancies and factual expectancies about the world, respectively. In the semanticknowledge and world-knowledge condition, activation of the LIF region did not differ between groups. In sentences that required integration of speaker information, the autism group showed abnormally reduced activation of the LIF region. The results suggest that people with autism may recruit the LIF region in a different manner in tasks that demand integration of social information.

Abstract

Selective brain responses to objects arise within a few hundreds of milliseconds of neural processing, suggesting that visual object recognition is mediated by rapid feed-forward activations. Yet disruption of neural responses in early visual cortex beyond feed-forward processing stages affects object recognition performance. Here, we unite these discrepant findings by reporting that object recognition involves enhanced feedback activity (recurrent processing within early visual cortex) when target objects are embedded in natural scenes that are characterized by high complexity. Human participants performed an animal target detection task on natural scenes with low, medium or high complexity as determined by a computational model of low-level contrast statistics. Three converging lines of evidence indicate that feedback was selectively enhanced for high complexity scenes. First, functional magnetic resonance imaging (fMRI) activity in early visual cortex (V1) was enhanced for target objects in scenes with high, but not low or medium complexity. Second, event-related potentials (ERPs) evoked by target objects were selectively enhanced at feedback stages of visual processing (from ~220 ms onwards) for high complexity scenes only. Third, behavioral performance for high complexity scenes deteriorated when participants were pressed for time and thus less able to incorporate the feedback activity. Modeling of the reaction time distributions using drift diffusion revealed that object information accumulated more slowly for high complexity scenes, with evidence accumulation being coupled to trial-to-trial variation in the EEG feedback response. Together, these results suggest that while feed-forward activity may suffice to recognize isolated objects, the brain employs recurrent processing more adaptively in naturalistic settings, using minimal feedback for simple scenes and increasing feedback for complex scenes.

Abstract

PURPOSE: Time spent in "sports/outdoor activity" has shown a negative association with incident myopia during childhood. We investigated the association of incident myopia with time spent outdoors and physical activity separately. METHODS: Participants in the Avon Longitudinal Study of Parents and Children (ALSPAC) were assessed by noncycloplegic autorefraction at ages 7, 10, 11, 12, and 15 years, and classified as myopic (≤-1 diopters) or as emmetropic/hyperopic (≥-0.25 diopters) at each visit (N = 4,837-7,747). Physical activity at age 11 years was measured objectively using an accelerometer, worn for 1 week. Time spent outdoors was assessed via a parental questionnaire administered when children were aged 8-9 years. Variables associated with incident myopia were examined using Cox regression. RESULTS: In analyses using all available data, both time spent outdoors and physical activity were associated with incident myopia, with time outdoors having the larger effect. The results were similar for analyses restricted to children classified as either nonmyopic or emmetropic/hyperopic at age 11 years. Thus, for children nonmyopic at age 11, the hazard ratio (95% confidence interval, CI) for incident myopia was 0.66 (0.47-0.93) for a high versus low amount of time spent outdoors, and 0.87 (0.76-0.99) per unit standard deviation above average increase in moderate/vigorous physical activity. CONCLUSION: Time spent outdoors was predictive of incident myopia independently of physical activity level. The greater association observed for time outdoors suggests that the previously reported link between "sports/outdoor activity" and incident myopia is due mainly to its capture of information relating to time outdoors rather than physical activity.

Abstract

Despite the literature on the role of input in adult second-language (L2) acquisition and on artificial and statistical language learning, surprisingly little is known about how adults break into a new language in the wild. This article reports on a series of behavioral and neuroimaging studies that examine what linguistic information adults can extract from naturalistic but controlled audiovisual input in an unknown and typologically distant L2 after minimal exposure (7–14 min) without instruction or training. We tested the stepwise development of segmental, phonotactic, and lexical knowledge in Dutch adults after minimal exposure to Mandarin Chinese and the role of item frequency, speech-associated gestures, and word length at the earliest stages of learning. In an exploratory neural connectivity study we further examined the neural correlates of word recognition in a new language, identifying brain regions whose connectivity was related to performance both before and after learning. While emphasizing the complexity of the learning task, the results suggest that the adult learning mechanism is more powerful than is normally assumed when faced with small amounts of complex, continuous audiovisual language input.

Abstract

Gestures, the symbolic movements speakers perform while they speak, form a closely inter-connected system with speech where gestures serve both addressee-directed (‘communicative’) and speaker-directed (’internal’) functions. This paper aims (1) to show that a combined analysis of gesture and speech offers new ways to address theoretical issues in SLA and bilingualism studies, probing SLA and bilingualism as product and process; and (2) to outline some methodological concerns and desiderata to facilitate the inclusion of gesture in SLA and bilingualism research.

Abstract

This paper explores the linguistic encoding of placement and removal events in Swedish. Drawing on elicited spoken data, it provides a unified approach to caused motion descriptions. The results show uniform syntactic behaviour of placement and removal descriptions and a consistent asymmetry between placement and removal in the semantic specificity of verbs. The results also reveal three further semantic patterns, pertaining to the nature of the relationship between Figure and Ground, that appear to account for how these event types are characterised, viz. whether the Ground is represented by a body part of the Agent; whether the Figure is contained within the Ground; or whether it is supported by the Ground.

Abstract

Placement verbs describe every-day events like putting a toy in a box. Dutch uses two semi-obligatory caused posture verbs (leggen ‘lay’ and zetten ‘set/stand’) to distinguish between events based on whether the located object is placed horizontally or vertically. Although prevalent in the input, these verbs cause Dutch children difficulties even at age five (Narasimhan & Gullberg, submitted). Children overextend leggen to all placement events and underextend use of zetten. This study examines what gestures can reveal about Dutch three- and five-year-olds’ semantic representations of such verbs. The results show that children gesture differently from adults in this domain. Three-year-olds express only the path of the caused motion, whereas five-year-olds, like adults, also incorporate the located object. Crucially, gesture patterns are tied to verb use: those children who over-use leggen 'lay' for all placement events only gesture about path. Conversely, children who use the two verbs differentially for horizontal and vertical placement also incorporate objects in gestures like adults. We argue that children's gestures reflect their current knowledge of verb semantics, and indicate a developmental transition from a system with a single semantic component – (caused) movement – to an (adult-like) focus on two semantic components – (caused) movement-and-object

Abstract

Discussions about the adult L2 learning capacity often take as their starting point stages where considerable L2 knowledge has already been accumulated. This paper probes the absolute earliest stages of learning and investigates what lexical knowledge adult learners can extract from complex, continuous speech in an unknown language after minimal exposure and without any help. Dutch participants were exposed to naturalistic but controlled audiovisual input in Mandarin Chinese, in which item frequency and gestural highlighting were manipulated. The results from a word recognition task showed that adults are able to draw on frequency to recognize disyllabic words appearing only eight times in continuous speech. The findings from a sound-to-picture matching task revealed that the mapping of meaning to word form requires a combination of cues: disyllabic words accompanied by a gesture were correctly assigned meaning after eight encounters. Overall, the study suggests that the adult learning mechanism is a considerably more powerful than typically assumed in the SLA literature drawing on frequency, gestural cues and syllable structure. Even in the absence of pre-existing knowledge about cognates and sound system to bootstrap and boost learning, it deals efficiently with very little, very complex input.

Abstract

“The most profound technologies are those that disappear. They weave themselves into the fabric of everyday life until they are indistinguishable from it.” (Weiser 1991, S. 94). – Die Behauptung stammt aus einem vielzitierten Text von Mark Weiser, ehemals Chief Technology Officer am berühmten Xerox Palo Alto Research Center (PARC), wo nicht nur einige bedeutende computertechnische Innovationen ihren Ursprung hatten, sondern auch grundlegende anthropologische Einsichten zum Umgang mit technischen Artefakten gewonnen wurden.1 In einem populärwissenschaftlichen Artikel mit dem Titel „The Computer for the 21st Century” entwarf Weiser 1991 die Vision einer Zukunft, in der wir nicht mehr mit einem einzelnen PC an unserem Arbeitsplatz umgehen – vielmehr seien wir in jedem Raum umgeben von hunderten elektronischer Vorrichtungen, die untrennbar in Alltagsgegenstände eingebettet und daher in unserer materiellen Umwelt gleichsam „verschwunden“ sind. Dabei ging es Weiser nicht allein um das ubiquitäre Phänomen, das in der Medientheorie als „Transparenz der Medien“ bekannt ist2 oder in allgemeineren Theorien der Alltagserfahrung als eine selbstverständliche Verwobenheit des Menschen mit den Dingen, die uns in ihrem Sinn vertraut und praktisch „zuhanden“ sind.3 Darüber hinaus zielte Weisers Vision darauf, unsere bereits existierende Umwelt durch computerlesbare Daten zu erweitern und in die Operationen eines solchen allgegenwärtigen Netzwerks alltägliche Praktiken gleichsam lückenlos zu integrieren: In der Welt, die Weiser entwirft, öffnen sich Türen für denjenigen, der ein bestimmtes elektronisches Abzeichen trägt, begrüßen Räume Personen, die sie betreten, mit Namen, passen sich Computerterminals an die Präferenzen individueller Nutzer an usw. (Weiser 1991, S. 99).

Abstract

Geen andere soort dan homo sapiens heeft in de loop van zijn evolutionaire geschiedenis een communicatiesysteem ontwikkeld waarin een eindig aantal symbolen samen met een reeks van regels voor het combineren daarvan een oneindig aantal uitdrukkingen mogelijk maakt. Dit natuurlijke taalsysteem stelt leden van onze soort in staat gedachten een uiterlijke vorm te geven en uit te wisselen met de sociale groep en, door de uitvinding van schriftsystemen, met de gehele samenleving. Spraak en taal zijn effectieve middelen voor het behoud van sociale cohesie in samenlevingen waarvan de groepsgrootte en de complexe sociale organisatie van dien aard is dat dit niet langer kan door middel van ‘vlooien’, de wijze waarop onze genetische buren, de primaten van de oude wereld, sociale cohesie bevorderen [1,2].

Abstract

Children’s songs often contain rhyming words at phrase endings. In this study, we investigated whether infants can already recognize this phonological pattern in songs. Earlier studies using lists of spoken words were equivocal on infants’ spontaneous processing of rhymes (Hayes, Slater, & Brown, 2000; Jusczyk, Goodman, & Baumann, 1999). Songs, however, constitute an ecologically valid rhyming stimulus, which could allow for spontaneous processing of this phonological pattern in infants. Novel children’s songs with rhyming and non-rhyming lyrics using pseudo-words were presented to 35 9-month-old Dutch infants using the Headturn Preference Procedure. Infants on average listened longer to the non-rhyming songs, with around half of the infants however exhibiting a preference for the rhyming songs. These results highlight that infants have the processing abilities to benefit from their natural rhyming input for the development of their phonological abilities.

Abstract

We review data and hypotheses dealing with the mental representations for perceived and produced speech that infants build and use over the course of learning a language. In the early stages of speech perception and vocal production, before the emergence of a receptive or a productive lexicon, the dominant picture emerging from the literature suggests rather non-analytic representations based on units of the size of the syllable: Young children seem to parse speech into syllable-sized units in spite of their ability to detect sound equivalence based on shared phonetic features. Once a productive lexicon has emerged, word form representations are initially rather underspecified phonetically but gradually become more specified with lexical growth, up to the phoneme level. The situation is different for the receptive lexicon, in which phonetic specification for consonants and vowels seem to follow different developmental paths. Consonants in stressed syllables are somewhat well specified already at the first signs of a receptive lexicon, and become even better specified with lexical growth. Vowels seem to follow a different developmental path, with increasing flexibility throughout lexical development. Thus, children come to exhibit a consonant vowel asymmetry in lexical representations, which is clear in adult representations.

Abstract

This paper follows the changing fortunes of Chomsky’s search for a pedigree in the history of Western thought during the late 1960s. Having achieved a unique position of supremacy in the theory of syntax and having exploited that position far beyond the narrow circles of professional syntacticians, he felt the need to shore up his theory with the authority of history. It is shown that this attempt, resulting mainly in his Cartesian Linguistics of 1966, was widely, and rightly, judged to be a radical failure, even though it led to a sudden revival of interest in the history of linguistics. Ironically, the very upswing in historical studies caused by Cartesian Linguistics ended up showing that the real pedigree belongs to Generative Semantics, developed by the same ‘angry young men’ Chomsky was so bent on destroying.

Abstract

Originally published in Diachronica 27:2 (2010) One attempt at explaining why some language families are large (while others are small) is the hypothesis that the families that are now large became large because their ancestral speakers had a technological advantage, most often agriculture. Variants of this idea are referred to as the Language Farming Dispersal Hypothesis. Previously, detailed language family studies have uncovered various supporting examples and counterexamples to this idea. In the present paper I weigh the evidence from ALL attested language families. For each family, I use the number of member languages as a measure of cardinal size, member language coordinates to measure geospatial size and ethnographic evidence to assess subsistence status. This data shows that, although agricultural families tend to be larger in cardinal size, their size is hardly due to the simple presence of farming. If farming were responsible for language family expansions, we would expect a greater east-west geospatial spread of large families than is actually observed. The data, however, is compatible with weaker versions of the farming dispersal hypothesis as well with models where large families acquire farming because of their size, rather than the other way around.

Abstract

One attempt at explaining why some language families are large (while others are small) is the hypothesis that the families that are now large became large because their ancestral speakers had a technological advantage, most often agriculture. Variants of this idea are referred to as the Language Farming Dispersal Hypothesis. Previously, detailed language family studies have uncovered various supporting examples and counterexamples to this idea. In the present paper I weigh the evidence from ALL attested language families. For each family, I use the number of member languages as a measure of cardinal size, member language coordinates to measure geospatial size and ethnographic evidence to assess subsistence status. This data shows that, although agricultural families tend to be larger in cardinal size, their size is hardly due to the simple presence of farming. If farming were responsible for language family expansions, we would expect a greater east-west geospatial spread of large families than is actually observed. The data, however, is compatible with weaker versions of the farming dispersal hypothesis as well with models where large families acquire farming because of their size, rather than the other way around.

Abstract

A series of articles by Ross (1995, 2001, 2005) use pronoun sim- ilarities to gauge relatedness between various Papuan microgroups, arguing that the similarities could not be the result of chance or bor- rowing. I argue that a more appropriate manner of calculating chance gives a signicantly dierent result: when cross-comparing a pool of languages the prospects for chance matches of rst and second person pronouns are very good. Using pronoun form data from over 3000 lan- guages and over 300 language families inside and outside New Guinea, I show that there is, nevertheless, a tendency for Papuan pronouns to use certain consonants more often in 1P and 2P SG forms than in the rest of the world. This could reect an underlying family. An alter- native explanation is the established Papuan areal feature of having a small consonant inventory, which results in a higher functional load on the remaining consonants, which is, in turn, reected in the enhanced popularity of certain consonants in pronouns of those languages. A test of surface forms (i.e., non-reconstructed forms) favours the latter explanation.

Abstract

This paper aims to list all known language families that are not yet extinct and all of whose member languages are very poorly documented, i.e., less than a sketch grammar’s worth of data has been collected. It explains what constitutes a valid family, what amount and kinds of documentary data are sufficient, when a language is considered extinct, and more. It is hoped that the survey will be useful in setting priorities for documentation fieldwork, in particular for those documentation efforts whose underlying goal is to understand linguistic diversity.

Abstract

This paper examines the role of morphological structure in the reduced pronunciation of morphologically complex words by discussing and re-analyzing data from the literature. Acoustic reduction refers to the phenomenon that, in spontaneous speech, phonemes may be shorter or absent. We review studies investigating effects of the repetition of a morpheme, of whether a segment plays a crucial role in the identification of its morpheme, and of a word's morphological decomposability. We conclude that these studies report either no effects of morphological structure or effects that are open to alternative interpretations. Our analysis also reveals the need for a uniform definition of morphological decomposability. Furthermore, we examine whether the reduction of segments in morphologically complex words correlates with these segments' contribution to the identification of the whole word, and discuss previous studies and new analyses supporting this hypothesis. We conclude that the data show no convincing evidence that morphological structure conditions reduction, which contrasts with the expectations of several models of speech production and of morphological processing (e.g., weaver++ and dual-route models). The data collected so far support psycholinguistic models which assume that all morphologically complex words are processed as complete units.

Abstract

Many learners of a foreign language (L2) struggle to correctly pronounce newly-learned speech sounds, yet many others achieve this with apparent ease. Here we explored how a training study of learning complex consonant clusters at the very onset of the L2 acquisition can inform us about L2 learning in general and individual differences in particular. To this end, adult Dutch native speakers were trained on Slovak words with complex consonant clusters (e.g., pstruh /pstrux/‘trout’, štvrť /ʃtvrc/ ‘quarter’) using auditory and orthographic input. In the same session following training, participants were tested on a battery of L2 perception and production tasks. The battery of L2 tests was repeated twice more with one week between each session. In the first session, an additional battery of control tests was used to test participants’ native language (L1) skills. Overall, in line with some previous research, participants showed only weak learning effects across the L2 perception tasks. However, there were considerable individual differences across all L2 tasks, which remained stable across sessions. Only two participants showed overall high L2 production performance that fell within 2 standard deviations of the mean ratings obtained for an L1 speaker. The mispronunciation detection task was the only perception task which significantly predicted production performance in the final session. We conclude by discussing several recommendations for future L2 learning studies.

Abstract

Slovak (sometimes also called Slovakian) is an Indo-European language belonging to the West-Slavic branch, and is most closely related to Czech. Slovak is spoken as a native language by 4.6 million speakers in Slovakia (that is by roughly 85% of the population), and by over two million Slovaks living abroad, most of them in the USA, the Czech Republic, Hungary, Canada and Great Britain (Office for Slovaks Living Abroad 2009).

Abstract

We used eyetracking, perceptual discrimination, and production tasks to examine the influences of perceptual similarity and linguistic experience on word recognition in nonnative (L2) speech. Eye movements to printed words were tracked while German and Dutch learners of English heard words containing one of three pronunciation variants (/t/, /s/, or /f/) of the interdental fricative /θ/. Irrespective of whether the speaker was Dutch or German, looking preferences for target words with /θ/ matched the preferences for producing /s/ variants in German speakers and /t/ variants in Dutch speakers (as determined via the production task), while a control group of English participants showed no such preferences. The perceptually most similar and most confusable /f/ variant (as determined via the discrimination task) was never preferred as a match for /θ/. These results suggest that linguistic experience with L2 pronunciations facilitates recognition of variants in an L2, with effects of frequency outweighing effects of perceptual similarity.

Abstract

The possible-word constraint (PWC; Norris, McQueen, Cutler, & Butterfield, 1997) has been proposed as a language-universal segmentation principle: Lexical candidates are disfavoured if the resulting segmentation of continuous speech leads to vowelless residues in the input—for example, single consonants. Three word-spotting experiments investigated segmentation in Slovak, a language with single-consonant words and fixed stress. In Experiment 1, Slovak listeners detected real words such as ruka “hand” embedded in prepositional-consonant contexts (e.g., /gruka/) faster than those in nonprepositional-consonant contexts (e.g., /truka/) and slowest in syllable contexts (e.g., /dugruka/). The second experiment controlled for effects of stress. Responses were still fastest in prepositional-consonant contexts, but were now slowest in nonprepositional-consonant contexts. In Experiment 3, the lexical and syllabic status of the contexts was manipulated. Responses were again slowest in nonprepositional-consonant contexts but equally fast in prepositional-consonant, prepositional-vowel, and nonprepositional-vowel contexts. These results suggest that Slovak listeners use fixed stress and the PWC to segment speech, but that single consonants that can be words have a special status in Slovak segmentation. Knowledge about what constitutes a phonologically acceptable word in a given language therefore determines whether vowelless stretches of speech are or are not treated as acceptable parts of the lexical parse.

Abstract

How do native listeners process grammatical errors that are frequent in non-native speech? We investigated whether the neural correlates of syntactic processing are modulated by speaker identity. ERPs to gender agreement errors in sentences spoken by a native speaker were compared with the same errors spoken by a non-native speaker. In line with previous research, gender violations in native speech resulted in a P600 effect (larger P600 for violations in comparison with correct sentences), but when the same violations were produced by the non-native speaker with a foreign accent, no P600 effect was observed. Control sentences with semantic violations elicited comparable N400 effects for both the native and the non-native speaker, confirming no general integration problem in foreign-accented speech. The results demonstrate that the P600 is modulated by speaker identity, extending our knowledge about the role of speaker's characteristics on neural correlates of speech processing.

Abstract

CONTEXT Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. OBJECTIVE To determine whether the association between rs16969968 and smoking is modified by age at onset of regular smoking. DATA SOURCES Primary data. STUDY SELECTION Available genetic studies containing measures of CPD and the genotype of rs16969968 or its proxy. DATA EXTRACTION Uniform statistical analysis scripts were run locally. Starting with 94 050 ever-smokers from 43 studies, we extracted the heavy smokers (CPD >20) and light smokers (CPD ≤10) with age-at-onset information, reducing the sample size to 33 348. Each study was stratified into early-onset smokers (age at onset ≤16 years) and late-onset smokers (age at onset >16 years), and a logistic regression of heavy vs light smoking with the rs16969968 genotype was computed for each stratum. Meta-analysis was performed within each age-at-onset stratum. DATA SYNTHESIS Individuals with 1 risk allele at rs16969968 who were early-onset smokers were significantly more likely to be heavy smokers in adulthood (odds ratio [OR] = 1.45; 95% CI, 1.36-1.55; n = 13 843) than were carriers of the risk allele who were late-onset smokers (OR = 1.27; 95% CI, 1.21-1.33, n = 19 505) (P = .01). CONCLUSION These results highlight an increased genetic vulnerability to smoking in early-onset smokers.

Abstract

Recent decades have ushered in tremendous progress in understanding the neural basis of language. Most of our current knowledge on language and the brain, however, is derived from lab-based experiments that are far removed from everyday language use, and that are inspired by questions originating in linguistic and psycholinguistic contexts. In this paper we argue that in order to make progress, the field needs to shift its focus to understanding the neurobiology of naturalistic language comprehension. We present here a new conceptual framework for understanding the neurobiological organization of language comprehension. This framework is non-language-centered in the computational/neurobiological constructs it identifies, and focuses strongly on context. Our core arguments address three general issues: (i) the difficulty in extending language-centric explanations to discourse; (ii) the necessity of taking context as a serious topic of study, modeling it formally and acknowledging the limitations on external validity when studying language comprehension outside context; and (iii) the tenuous status of the language network as an explanatory construct. We argue that adopting this framework means that neurobiological studies of language will be less focused on identifying correlations between brain activity patterns and mechanisms postulated by psycholinguistic theories. Instead, they will be less self-referential and increasingly more inclined towards integration of language with other cognitive systems, ultimately doing more justice to the neurobiological organization of language and how it supports language as it is used in everyday life.

Abstract

Cultural transmission is a key component of human evolution. Two of humans' closest living relatives, chimpanzees and orangutans, have also been argued to transmit behavioral traditions across generations culturally [ [1], [2] and [3]], but how much the process might resemble the human process is still in large part unknown. One key phenomenon of human cultural transmission is majority-biased transmission: the increased likelihood for learners to end up not with the most frequent behavior but rather with the behavior demonstrated by most individuals. Here we show that chimpanzees and human children as young as 2 years of age, but not orangutans, are more likely to copy an action performed by three individuals, once each, than an action performed by one individual three times. The tendency to acquire the behaviors of the majority has been posited as key to the transmission of relatively safe, reliable, and productive behavioral strategies [ [4], [5], [6] and [7]] but has not previously been demonstrated in primates.

Abstract

Contemporary comparative cognition has a large repertoire of animal models and methods, with concurrent theoretical advances that are providing initial answers to crucial questions about human cognition. What cognitive traits are uniquely human? What are the species-typical inherited predispositions of the human mind? What is the human mind capable of without certain types of specific experiences with the surrounding environment? Here, we review recent findings from the domains of space, time and number cognition. These findings are produced using different comparative methodologies relying on different animal species, namely birds and non-human great apes. The study of these species not only reveals the range of cognitive abilities across vertebrates, but also increases our understanding of human cognition in crucial ways.

Abstract

Literacy affects many aspects of cognitive and linguistic processing. Among them, it increases the salience of words as units of linguistic processing. Here, we explored the impact of literacy acquisition on children’s learning of an artifical language. Recent accounts of L1–L2 differences relate adults’ greater difficulty with language learning to their smaller reliance on multiword units. In particular, multiword units are claimed to be beneficial for learning opaque grammatical relations like grammatical gender. Since literacy impacts the reliance on words as units of processing, we ask if and how acquiring literacy may change children’s language-learning results. We looked at children’s success in learning novel noun labels relative to their success in learning article-noun gender agreement, before and after learning to read. We found that preliterate first graders were better at learning agreement (larger units) than at learning nouns (smaller units), and that the difference between the two trial types significantly decreased after these children acquired literacy. In contrast, literate third graders were as good in both trial types. These findings suggest that literacy affects not only language processing, but also leads to important differences in language learning. They support the idea that some of children’s advantage in language learning comes from their previous knowledge and experience with language—and specifically, their lack of experience with written texts.

Abstract

Objective
The aim was to assess whether loci associated with metabolic traits also have a significant role in BMI and mental traits/disorders
Methods
We first assessed the number of single nucleotide polymorphisms (SNPs) with genome-wide significance for human metabolism (NHGRI-EBI Catalog). These 516 SNPs (216 independent loci) were looked-up in genome-wide association studies for association with body mass index (BMI) and the mental traits/disorders educational attainment, neuroticism, schizophrenia, well-being, anxiety, depressive symptoms, major depressive disorder, autism-spectrum disorder, attention-deficit/hyperactivity disorder, Alzheimer's disease, bipolar disorder, aggressive behavior, and internalizing problems. A strict significance threshold of p < 6.92 × 10−6 was based on the correction for 516 SNPs and all 14 phenotypes, a second less conservative threshold (p < 9.69 × 10−5) on the correction for the 516 SNPs only.
Results
19 SNPs located in nine independent loci revealed p-values < 6.92 × 10−6; the less strict criterion was met by 41 SNPs in 24 independent loci. BMI and schizophrenia showed the most pronounced genetic overlap with human metabolism with three loci each meeting the strict significance threshold. Overall, genetic variation associated with estimated glomerular filtration rate showed up frequently; single metabolite SNPs were associated with more than one phenotype. Replications in independent samples were obtained for BMI and educational attainment.
Conclusions
Approximately 5–10% of the regions involved in the regulation of blood/urine metabolite levels seem to also play a role in BMI and mental traits/disorders and related phenotypes. If validated in metabolomic studies of the respective phenotypes, the associated blood/urine metabolites may enable novel preventive and therapeutic strategies.

Abstract

OBJECTIVE: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We therefore aimed to investigate the genetics of plasma adiponectin in men and women. METHODS: We combined genome-wide association scans of three population-based studies including 4659 persons. For the replication stage in 13795 subjects, we selected the 20 top signals of the combined analysis, as well as the 10 top signals with p-values less than 1.0 x 10(-4) for each the men- and the women-specific analyses. We further selected 73 SNPs that were consistently associated with metabolic syndrome parameters in previous genome-wide association studies to check for their association with plasma adiponectin. RESULTS: The ADIPOQ locus showed genome-wide significant p-values in the combined (p=4.3 x 10(-24)) as well as in both women- and men-specific analyses (p=8.7 x 10(-17) and p=2.5 x 10(-11), respectively). None of the other 39 top signal SNPs showed evidence for association in the replication analysis. None of 73 SNPs from metabolic syndrome loci exhibited association with plasma adiponectin (p>0.01). CONCLUSIONS: We demonstrated the ADIPOQ gene as the only major gene for plasma adiponectin, which explains 6.7% of the phenotypic variance. We further found that neither this gene nor any of the metabolic syndrome loci explained the sex differences observed for plasma adiponectin. Larger studies are needed to identify more moderate genetic determinants of plasma adiponectin.

Abstract

This paper provides an overview of the question–response system of Danish, based on a collection of 350 questions (and responses) collected from video recordings of naturally occurring face-to-face interactions between native speakers of Danish. The paper identifies the lexico-grammatical options for formulating questions, the range of social actions that can be implemented through questions and the relationship between questions and responses. It further describes features where Danish questions differ from a range of other languages in terms of, for instance, distribution and the relationship between question format and social action. For instance, Danish has a high frequency of interrogatively formatted questions and questions that are negatively formulated, when compared to languages that have the same grammatical options. In terms of action, Danish shows a higher number of questions that are used for making suggestions, offers and requests and does not use repetition as a way of answering a question as often as other languages.

Abstract

Objective: This study investigates the relationship of ‘online commentary’(contemporaneous physician comments about physical examination [PE] findings) with (i) parent questioning of the treatment recommendation and (ii) inappropriate antibiotic prescribing. Methods: A nested cross-sectional study of 522 encounters motivated by upper respiratory symptoms in 27 California pediatric practices (38 pediatricians). Physicians completed a post-visit survey regarding physical examination findings, diagnosis, treatment, and whether they perceived the parent as expecting an antibiotic. Taped encounters were coded for ‘problem’ online commentary (PE findings discussed as significant or clearly abnormal) and ‘no problem’ online commentary (PE findings discussed reassuringly as normal or insignificant). Results: Online commentary during the PE occurred in 73% of visits with viral diagnoses (n = 261). Compared to similar cases with ‘no problem’ online commentary, ‘problem’ comments were associated with a 13% greater probability of parents uestioning a non-antibiotic treatment plan (95% CI 0-26%, p = .05,) and a 27% (95% CI: 2-52%, p < .05) greater probability of an inappropriate antibiotic prescription. Conclusion: With viral illnesses, problematic online comments are associated with more pediatrician-parent conflict over non-antibiotic treatment recommendations. This may increase inappropriate antibiotic prescribing. Practice implications: In viral cases, physicians should consider avoiding the use of problematic online commentary.

Abstract

The interaction between C-X-C chemokine receptor type 4 (CXCR4) and its cognate ligand C-X-C motif chemokine ligand 12 (CXCL12) plays a critical role in regulating hematopoietic stem cell activation and subsequent cellular mobilization. Extensive studies of these genes have been conducted in mammals, but much less is known about the expression and function of CXCR4 and CXCL12 in non-mammalian vertebrates. In the present study, we identify simultaneous expression of CXCR4 and CXCL12 orthologs in the epigonal organ (the primary hematopoietic tissue) of the little skate, Leucoraja erinacea. Genetic and phylogenetic analyses were functionally supported by significant mobilization of leukocytes following administration of Plerixafor, a CXCR4 antagonist and clinically important drug. Our results provide evidence that, as in humans, Plerixafor disrupts CXCR4/CXCL12 binding in the little skate, facilitating release of leukocytes into the bloodstream. Our study illustrates the value of the little skate as a model organism, particularly in studies of hematopoiesis and potentially for preclinical research on hematological and vascular disorders.

Abstract

The multilingual brain implements mechanisms that serve to select the appropriate language as a function of the communicative environment. Engaging these mechanisms on a regular basis appears to have consequences for brain structure and function. Studies have implicated the caudate nuclei as important nodes in polyglot language control processes, and have also shown structural differences in the caudate nuclei in bilingual compared to monolingual populations. However, the majority of published work has focused on the categorical differences between monolingual and bilingual individuals, and little is known about whether these findings extend to multilingual individuals, who have even greater language control demands. In the present paper, we present an analysis of the volume and morphology of the caudate nuclei, putamen, pallidum and thalami in 75 multilingual individuals who speak three or more languages. Volumetric analyses revealed a significant relationship between multilingual experience and right caudate volume, as well as a marginally significant relationship with left caudate volume. Vertex-wise analyses revealed a significant enlargement of dorsal and anterior portions of the left caudate nucleus, known to have connectivity with executive brain regions, as a function of multilingual expertise. These results suggest that multilingual expertise might exercise a continuous impact on brain structure, and that as additional languages beyond a second are acquired, the additional demands for linguistic and cognitive control result in modifications to brain structures associated with language management processes.

Abstract

We used functional magnetic resonance imaging (fMRI) to investigate the neural basis of comprehension and perceptual learning of artificially degraded [noise vocoded (NV)] speech. Fifteen participants were scanned while listening to 6-channel vocoded words, which are difficult for naive listeners to comprehend, but can be readily learned with appropriate feedback presentations. During three test blocks, we compared responses to potentially intelligible NV words, incomprehensible distorted words and clear speech. Training sessions were interleaved with the test sessions and included paired presentation of clear then noise-vocoded words: a type of feedback that enhances perceptual learning. Listeners' comprehension of NV words improved significantly as a consequence of training. Listening to NV compared to clear speech activated left insula, and prefrontal and motor cortices. These areas, which are implicated in speech production, may play an active role in supporting the comprehension of degraded speech. Elevated activation in the precentral gyrus during paired clear-then-distorted presentations that enhance learning further suggests a role for articulatory representations of speech in perceptual learning of degraded speech.

Abstract

A commentary on
Broca Pars Triangularis Constitutes a “Hub” of the Language-Control Network during Simultaneous Language Translation

by Elmer, S. (2016). Front. Hum. Neurosci. 10:491. doi: 10.3389/fnhum.2016.00491

Elmer (2016) conducted an fMRI investigation of “simultaneous language translation” in five participants. The article presents group and individual analyses of German-to-Italian and Italian-to-German translation, confined to a small set of anatomical regions previously reported to be involved in multilingual control. Here we take the opportunity to discuss concerns regarding certain aspects of the study.

Abstract

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent–offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.

Abstract

Participants’ performance differs when conducting a task in the presence of a secondary individual, moreover the opinion the participant has of this individual also plays a role. Using EEG, we investigated how previous interactions with, and evaluations of, an avatar in virtual reality subsequently influenced attentional allocation to the face of that avatar. We focused on changes in the alpha activity as an index of attentional allocation. We found that the onset of an avatar’s face whom the participant had developed a rapport with induced greater alpha suppression. This suggests greater attentional resources are allocated to the interacted-with avatars. The evaluative ratings of the avatar induced a U-shaped change in alpha suppression, such that participants paid most attention when the avatar was rated as average. These results suggest that attentional allocation is an important element of how behaviour is altered in the presence of a secondary individual and is modulated by our opinion of that individual.

Abstract

During conversation, people integrate information from co-speech hand gestures with information in spoken language. For example, after hearing the sentence, "A piece of the log flew up and hit Carl in the face" while viewing a gesture directed at the nose, people tend to later report that the log hit Carl in the nose (information only in gesture) rather than in the face (information in speech). The cognitive and neural mechanisms that support the integration of gesture with speech are unclear. One possibility is that the hippocampus known for its role in relational memory and information integration is necessary for integrating gesture and speech. To test this possibility, we examined how patients with hippocampal amnesia and healthy and brain-damaged comparison participants express information from gesture in a narrative retelling task. Participants watched videos of an experimenter telling narratives that included hand gestures that contained supplementary information. Participants were asked to retell the narratives and their spoken retellings were assessed for the presence of information from gesture. For features that had been accompanied by supplementary gesture, patients with amnesia retold fewer of these features overall and fewer retellings that matched the speech from the narrative. Yet their retellings included features that contained information that had been present uniquely in. gesture in amounts that were not reliably different from comparison groups. Thus, a functioning hippocampus is not necessary for gesture-speech integration over short timescales. Providing unique information in gesture may enhance communication for individuals with declarative memory impairment, possibly via non-declarative memory mechanisms.

Abstract

Conversation Analysis (CA) is an inductive, micro-analytic, and predominantly qualitative
method for studying human social interactions. This chapter describes and illustrates the basic
methods of CA. We first situate the method by describing its sociological foundations, key areas
of analysis, and particular approach in using naturally occurring data. The bulk of the chapter is
devoted to practical explanations of the typical conversation analytic process for collecting data
and producing an analysis. We analyze a candidate interactional practice – the assessmentimplicative
interrogative – using real data extracts as a demonstration of the method, explicitly
laying out the relevant questions and considerations for every stage of an analysis. The chapter
concludes with some discussion of quantitative approaches to conversational interaction, and
links between CA and psycholinguistic concerns

Abstract

How do conversational participants continue with turn-by-turn talk after a momentary lapse? If all participants forgo the option to speak at possible sequence completion, an extended silence may emerge that can indicate a lack of anything to talk about next. For the interaction to proceed recognizably as a conversation, the postlapse turn needs to implicate more talk. Using conversation analysis, I examine three practical alternatives regarding sequentially implicative postlapse turns: Participants may move to end the interaction, continue with some prior matter, or start something new. Participants are shown using resources grounded in the interaction’s overall structural organization, the materials from the interaction-so-far, the mentionables they bring to interaction, and the situated environment itself. Comparing these alternatives, there’s suggestive quantitative evidence for a preference for continuation. The analysis of lapse resolution shows lapses as places for the management of multiple possible courses of action. Data are in U.S. and UK English.

Abstract

The home of human language use is face-to-face interaction, a context in which communicative exchanges are characterised not only by bodily signals accompanying what is being said but also by a pattern of alternating turns at talk. This transition between turns is astonishingly fast—typically a mere 200-ms elapse between a current and a next speaker’s contribution—meaning that comprehending, producing, and coordinating conversational contributions in time is a significant challenge. This begs the question of whether the additional information carried by bodily signals facilitates or hinders language processing in this time-pressured environment. We present analyses of multimodal conversations revealing that bodily signals appear to profoundly influence language processing in interaction: Questions accompanied by gestures lead to shorter turn transition times—that is, to faster responses—than questions without gestures, and responses come earlier when gestures end before compared to after the question turn has ended. These findings hold even after taking into account prosodic patterns and other visual signals, such as gaze. The empirical findings presented here provide a first glimpse of the role of the body in the psycholinguistic processes underpinning human communication

Abstract

In face-to-face communication, recurring intervals of mutual gaze allow listeners to provide speakers with visual feedback (e.g. nodding). Here, we investigate the potential feedback function of one of the subtlest of human movements—eye blinking. While blinking tends to be subliminal, the significance of mutual gaze in human interaction raises the question whether the interruption of mutual gaze through blinking may also be communicative. To answer this question, we developed a novel, virtual reality-based experimental paradigm, which enabled us to selectively manipulate blinking in a virtual listener, creating small differences in blink duration resulting in ‘short’ (208 ms) and ‘long’ (607 ms) blinks. We found that speakers unconsciously took into account the subtle differences in listeners’ blink duration, producing substantially shorter answers in response to long listener blinks. Our findings suggest that, in addition to physiological, perceptual and cognitive functions, listener blinks are also perceived as communicative signals, directly influencing speakers’ communicative behavior in face-to-face communication. More generally, these findings may be interpreted as shedding new light on the evolutionary origins of mental-state signaling, which is a crucial ingredient for achieving mutual understanding in everyday social interaction.

Abstract

Background Reduced total brain volume is a consistent finding in children with Attention Deficit/Hyperactivity Disorder (ADHD). In order to get a better understanding of the neurobiology of ADHD, we take the first step in studying the dimensionality of current self-reported adult ADHD symptoms, by looking at its relation with total brain volume. Methodology/Principal Findings In a sample of 652 highly educated adults, the association between total brain volume, assessed with magnetic resonance imaging, and current number of self-reported ADHD symptoms was studied. The results showed an association between these self-reported ADHD symptoms and total brain volume. Post-hoc analysis revealed that the symptom domain of inattention had the strongest association with total brain volume. In addition, the threshold for impairment coincides with the threshold for brain volume reduction. Conclusions/Significance This finding improves our understanding of the biological substrates of self-reported ADHD symptoms, and suggests total brain volume as a target intermediate phenotype for future gene-finding in ADHD.

Abstract

Very little research has attempted to describe normal human variation in female genitalia, and no studies have compared the visual images that women might use in constructing their ideas of average and acceptable genital morphology to see if there are any systematic differences. Our objective was to determine if visual depictions of the vulva differed according to their source so as to alert medical professionals and their patients to how these depictions might capture variation and thus influence perceptions of "normality". We conducted a comparative analysis by measuring (a) published visual materials from human anatomy textbooks in a university library, (b) feminist publications (both print and online) depicting vulval morphology, and (c) online pornography, focusing on the most visited and freely accessible sites in the UK. Post-hoc tests showed that labial protuberance was significantly less (p < .001, equivalent to approximately 7 mm) in images from online pornography compared to feminist publications. All five measures taken of vulval features were significantly correlated (p < .001) in the online pornography sample, indicating a less varied range of differences in organ proportions than the other sources where not all measures were correlated. Women and health professionals should be aware that specific sources of imagery may depict different types of genital morphology and may not accurately reflect true variation in the population, and consultations for genital surgeries should include discussion about the actual and perceived range of variation in female genital morphology.

Abstract

There is increasing evidence that genetic risk variants for non-syndromic cleft lip/palate (nsCL/P) are also associated with normal-range variation in facial morphology. However, previous analyses are mostly limited to candidate SNPs and findings have not been consistently replicated. Here, we used polygenic risk scores (PRS) to test for genetic overlap between nsCL/P and seven biologically relevant facial phenotypes. Where evidence was found of genetic overlap, we used bidirectional Mendelian randomization (MR) to test the hypothesis that genetic liability to nsCL/P is causally related to implicated facial phenotypes. Across 5,804 individuals of European ancestry from two studies, we found strong evidence, using PRS, of genetic overlap between nsCL/P and philtrum width; a 1 S.D. increase in nsCL/P PRS was associated with a 0.10 mm decrease in philtrum width (95% C.I. 0.054, 0.146; P = 2x10-5). Follow-up MR analyses supported a causal relationship; genetic variants for nsCL/P homogeneously cause decreased philtrum width. In addition to the primary analysis, we also identified two novel risk loci for philtrum width at 5q22.2 and 7p15.2 in our Genome-wide Association Study (GWAS) of 6,136 individuals. Our results support a liability threshold model of inheritance for nsCL/P, related to abnormalities in development of the philtrum.

Abstract

This paper examines ╪Ākhoe Hai||om, a Khoe language of the Khoisan family spoken in Northern Namibia. I document the way questions are posed in natural conversation, the actions the questions are used for and the manner in which they are responded to. I show that in this language speakers rely most heavily on content questions. I also find that speakers of ╪Ākhoe Hai||om address fewer questions to a specific individual than would be expected from prior research on Indo European languages. Finally, I discuss some possible explanations for these findings.