Publications

Abstract

Olfaction is often viewed as difficult, yet the empirical evidence suggests a different picture. A closer look shows people around the world differ in their ability to detect, discriminate, and name odors. This gives rise to the question of what influences our ability to smell. Instead of focusing on olfactory deficiencies, this review presents a positive perspective by focusing on factors that make someone a better smeller. We consider three driving forces in improving olfactory ability: one’s biological makeup, one’s experience, and the environment. For each factor, we consider aspects proposed to improve odor perception and critically examine the evidence; as well as introducing lesser discussed areas. In terms of biology, there are cases of neurodiversity, such as olfactory synesthesia, that serve to enhance olfactory ability. Our lifetime experience, be it typical development or unique training experience, can also modify the trajectory of olfaction. Finally, our odor environment, in terms of ambient odor or culinary traditions, can influence odor perception too. Rather than highlighting the weaknesses of olfaction, we emphasize routes to harnessing our olfactory potential.

Abstract

Boundary extension (BE) is a memory error in which observers remember more of a scene than they actually viewed. This error reflects one’s prediction that a scene naturally continues and is driven by scene schema and contextual knowledge. In two separate experiments we investigated the necessity of context and scene schema in BE. In Experiment 1, observers viewed scenes that either contained semantically consistent or inconsistent objects as well as objects on white backgrounds. In both types of scenes and in the no-background condition there was a BE effect; critically, semantic inconsistency in scenes reduced the magnitude of BE. In Experiment 2 when we used abstract shapes instead of meaningful objects, there was no BE effect. We suggest that although scene schema is necessary to elicit BE, contextual consistency is not required.

Abstract

Prior knowledge about the visual world can change how a visual stimulus is processed. Two forms of prior knowledge are often distinguished: stimulus familiarity (i.e., whether a stimulus has been seen before) and stimulus expectation (i.e., whether a stimulus is expected to occur, based on the context). Neurophysiological studies in monkeys have shown suppression of spiking activity both for expected and for familiar items in object-selective inferotemporal cortex. It is an open question, however, if and how these types of knowledge interact in their modulatory effects on the sensory response. To address this issue and to examine whether previous findings generalize to noninvasively measured neural activity in humans, we separately manipulated stimulus familiarity and expectation while noninvasively recording human brain activity using magnetoencephalography. We observed independent suppression of neural activity by familiarity and expectation, specifically in the lateral occipital complex, the putative human homologue of monkey inferotemporal cortex. Familiarity also led to sharpened response dynamics, which was predominantly observed in early visual cortex. Together, these results show that distinct types of sensory knowledge jointly determine the amount of neural resources dedicated to object processing in the visual ventral stream.

Abstract

Background

Autism is a dimensional condition, representing the extreme end of a continuum of social competence that extends throughout the general population. Currently, little is known about how autistic social traits (ASTs), measured across the full spectrum of severity, develop during childhood and adolescence, including whether there are developmental differences between boys and girls. Therefore, we sought to chart the trajectories of ASTs in the general population across childhood and adolescence, with a focus on gender differences.
Methods

Participants were 9,744 males (n = 4,784) and females (n = 4,960) from ALSPAC, a UK birth cohort study. ASTs were assessed when participants were aged 7, 10, 13 and 16 years, using the parent‐report Social Communication Disorders Checklist. Data were modelled using latent growth curve analysis.
Results

Developmental trajectories of males and females were nonlinear, showing a decline from 7 to 10 years, followed by an increase between 10 and 16 years. At 7 years, males had higher levels of ASTs than females (mean raw score difference = 0.88, 95% CI [.72, 1.04]), and were more likely (odds ratio [OR] = 1.99; 95% CI, 1.82, 2.16) to score in the clinical range on the SCDC. By 16 years this gender difference had disappeared: males and females had, on average, similar levels of ASTs (mean difference = 0.00, 95% CI [−0.19, 0.19]) and were equally likely to score in the SCDC's clinical range (OR = 0.91, 95% CI, 0.73, 1.10). This was the result of an increase in females’ ASTs between 10 and 16 years.
Conclusions

There are gender‐specific trajectories of autistic social impairment, with females more likely than males to experience an escalation of ASTs during early‐ and midadolescence. It remains to be discovered whether the observed female adolescent increase in ASTs represents the genuine late onset of social difficulties or earlier, subtle, pre‐existing difficulties becoming more obvious.

Abstract

This study addresses the question of whether native Mandarin Chinese speakers process and comprehend subject-extracted relative clauses (SRC) more readily than objectextracted relative clauses (ORC) in Mandarin Chinese. Presently, this has been a hotly debated issue, with various studies producing contrasting results. Using two eye-tracking experiments with ambiguous and unambiguous RCs, this study shows that both ORCs and SRCs have different processing requirements depending on the locus and time course during reading. The results reveal that ORC reading was possibly facilitated by linear/ temporal integration and canonicity. On the other hand, similarity-based interference made ORCs more difficult, and expectation-based processing was more prominent for unambiguous ORCs. Overall, RC processing in Mandarin should not be broken down to a single ORC (dis) advantage, but understood as multiple interdependent factors influencing whether ORCs are either more difficult or easier to parse depending on the task and context at hand.

Abstract

Biological systems often detect species-specific signals in the environment. In humans, speech and language are species-specific signals of fundamental biological importance. To detect the linguistic signal, human brains must form hierarchical representations from a sequence of perceptual inputs distributed in time. What mechanism underlies this ability? One hypothesis is that the brain repurposed an available neurobiological mechanism when hierarchical linguistic representation became an efficient solution to a computational problem posed to the organism. Under such an account, a single mechanism must have the capacity to perform multiple, functionally related computations, e.g., detect the linguistic signal and perform other cognitive functions, while, ideally, oscillating like the human brain. We show that a computational model of analogy, built for an entirely different purpose—learning relational reasoning—processes sentences, represents their meaning, and, crucially, exhibits oscillatory activation patterns resembling cortical signals elicited by the same stimuli. Such redundancy in the cortical and machine signals is indicative of formal and mechanistic alignment between representational structure building and “cortical” oscillations. By inductive inference, this synergy suggests that the cortical signal reflects structure generation, just as the machine signal does. A single mechanism—using time to encode information across a layered network—generates the kind of (de)compositional representational hierarchy that is crucial for human language and offers a mechanistic linking hypothesis between linguistic representation and cortical computation

Abstract

Language processing requires us to integrate incoming linguistic representations with representations of past input, often across intervening words and phrases. This computational situation has been argued to require retrieval of the appropriate representations from memory via a set of features or representations serving as retrieval cues. However, even within in a cue-based retrieval account of language comprehension, both the structure of retrieval cues and the particular computation that underlies direct-access retrieval are still underspecified. Evidence from two event-related brain potential (ERP) experiments that show cue-based interference from different types of linguistic representations during ellipsis comprehension are consistent with an architecture wherein different cue types are integrated, and where the interaction of cue with the recent contents of memory determines processing outcome, including expression of the interference effect in ERP componentry. I conclude that retrieval likely includes a computation where cues are integrated with the contents of memory via a linear weighting scheme, and I propose vector addition as a candidate formalization of this computation. I attempt to account for these effects and other related phenomena within a broader cue-based framework of language processing.

Abstract

While structural priming makes a valuable contribution to psycholinguistics, it does not allow direct observation of representation, nor escape “source ambiguity.” Structural priming taps into implicit memory representations and processes that may differ from what is used online. We question whether implicit memory for language can and should be equated with linguistic representation or with language processing.

Abstract

Language comprehension involves coping with ambiguity and recovering from misanalysis. Syntactic ambiguity resolution is associated with increased reading times, a classic finding that has shaped theories of sentence processing. However, reaction times conflate the time it takes a process to complete with the quality of the behavior-related information available to the system. We therefore used the speed-accuracy tradeoff procedure (SAT) to derive orthogonal estimates of processing time and interpretation accuracy, and tested whether stronger retrieval cues (via semantic relatedness: neighed->horse vs. fell->horse) aid interpretation during recovery. On average, ambiguous sentences took 250ms longer (SAT rate) to interpret than unambiguous controls, demonstrating veridical differences in processing time. Retrieval cues more strongly related to the true subject always increased accuracy, regardless of ambiguity. These findings are consistent with a language processing architecture where cue-driven operations give rise to interpretation, and wherein diagnostic cues aid retrieval, regardless of parsing difficulty or structural uncertainty.

Abstract

The mapping between the physical speech signal and our internal representations is rarely straightforward. When faced with uncertainty, higher-order information is used to parse the signal and because of this, the lexicon and some aspects of sentential context have been shown to modulate the identification of ambiguous phonetic segments. Here, using a phoneme identification task (i.e., participants judged whether they heard [o] or [a] at the end of an adjective in a noun–adjective sequence), we asked whether grammatical gender cues influence phonetic identification and if this influence is shaped by the phonetic properties of the agreeing elements. In three experiments, we show that phrase-level gender agreement in Spanish affects the identification of ambiguous adjective-final vowels. Moreover, this effect is strongest when the phonetic characteristics of the element triggering agreement and the phonetic form of the agreeing element are identical. Our data are consistent with models wherein listeners generate specific predictions based on the interplay of underlying morphosyntactic knowledge and surface phonetic cues.

Abstract

Listeners are known to use adjacent contextual speech rate in processing temporally ambiguous speech sounds. For instance, an ambiguous vowel between short /A/ and long /a:/ in Dutch sounds relatively long (i.e., as /a:/) embedded in a fast precursor sentence, but short in a slow sentence. Besides the local speech rate, listeners also track talker-specific global speech rates. However, it is yet unclear whether other talkers' global rates are encoded with reference to a listener's self-produced rate. Three experiments addressed this question. In Experiment 1, one group of participants was instructed to speak fast, whereas another group had to speak slowly. The groups were compared on their perception of ambiguous /A/-/a:/ vowels embedded in neutral rate speech from another talker. In Experiment 2, the same participants listened to playback of their own speech and again evaluated target vowels in neutral rate speech. Neither of these experiments provided support for the involvement of self-produced speech in perception of another talker's speech rate. Experiment 3 repeated Experiment 2 but with a new participant sample that was unfamiliar with the participants from Experiment 2. This experiment revealed fewer /a:/ responses in neutral speech in the group also listening to a fast rate, suggesting that neutral speech sounds slow in the presence of a fast talker and vice versa. Taken together, the findings show that self-produced speech is processed differently from speech produced by others. They carry implications for our understanding of the perceptual and cognitive mechanisms involved in rate-dependent speech perception in dialogue settings.

Abstract

Previous research found that iconicity—the motivated correspondence between word form and meaning—contributes to expressive vocabulary acquisition. We present two new experiments with two different databases and with novel analyses to give a detailed quantification of how iconicity contributes to vocabulary acquisition across development, including both receptive understanding and production. The results demonstrate that iconicity is more prevalent early in acquisition and diminishes with increasing age and with increasing vocabulary. In the first experiment, we found that the influence of iconicity on children’s production vocabulary decreased gradually with increasing age. These effects were independent of the observed influence of concreteness, difficulty of articulation, and parental input frequency. Importantly, we substantiated the independence of iconicity, concreteness, and systematicity—a statistical regularity between sounds and meanings. In the second experiment, we found that the average iconicity of both a child’s receptive vocabulary and expressive vocabulary diminished dramatically with increases in vocabulary size. These results indicate that iconic words tend to be learned early in the acquisition of both receptive vocabulary and expressive vocabulary. We recommend that iconicity be included as one of the many different influences on a child’s early vocabulary acquisition. Facing the logically insurmountable challenge to link the form of a novel word (e.g., “gavagai”) with its particular meaning (e.g., “rabbit”; Quine, 1960, 1990/1992), children manage to learn words with incredible ease. Interest in this process has permeated empirical and theoretical research in developmental psychology, psycholinguistics, and language studies more generally. Investigators have studied which words are learned and when they are learned (Fenson et al., 1994), biases in word learning (Markman, 1990, 1991); the perceptual, social, and linguistic properties of the words (Gentner, 1982; Waxman, 1999; Maguire et al., 2006; Vosoughi et al., 2010), the structure of the language being learned (Gentner and Boroditsky, 2001), and the influence of the child’s milieu on word learning (Hart and Risley, 1995; Roy et al., 2015). A growing number of studies also show that the iconicity of words might be a significant factor in word learning (Imai and Kita, 2014; Perniss and Vigliocco, 2014; Perry et al., 2015). Iconicity refers generally to a correspondence between the form of a signal (e.g., spoken word, sign, and written character) and its meaning. For example, the sign for tree is iconic in many signed languages: it resembles a branching tree waving above the ground in American Sign Language, outlines the shape of a tree in Danish Sign Language and forms a tree trunk in Chinese Sign Language. In contrast to signed languages, the words of spoken languages have traditionally been treated as arbitrary, with the assumption that the forms of most words bear no resemblance to their meaning (e.g., Hockett, 1960; Pinker and Bloom, 1990). However, there is now a large body of research showing that iconicity is prevalent in the lexicons of many spoken languages (Nuckolls, 1999; Dingemanse et al., 2015). Most languages have an inventory of iconic words for sounds—onomatopoeic words such as splash, slurp, and moo, which sound somewhat like the sound of the real-world event to which they refer. Rhodes (1994), for example, counts more than 100 of these words in English. Many languages also contain large inventories of ideophones—a distinctively iconic class of words that is used to express a variety of sensorimotor-rich meanings (Nuckolls, 1999; Voeltz and Kilian-Hatz, 2001; Dingemanse, 2012). For example, in Japanese, the word “koron”—with a voiceless [k] refers to a light object rolling once, the reduplicated “korokoro” to a light object rolling repeatedly, and “gorogoro”—with a voiced [g]—to a heavy object rolling repeatedly (Imai and Kita, 2014). And in Siwu, spoken in Ghana, ideophones include words like fwεfwε “springy, elastic” and saaa “cool sensation” (Dingemanse et al., 2015). Outside of onomatopoeia and ideophones, there is also evidence that adjectives and verbs—which also tend to convey sensorimotor imagery—are also relatively iconic (Nygaard et al., 2009; Perry et al., 2015). Another domain of iconic words involves some correspondence between the point of articulation of a word and its meaning. For example, there appears to be some prevalence across languages of nasal consonants in words for nose and bilabial consonants in words for lip (Urban, 2011). Spoken words can also have a correspondence between a word’s meaning and other aspects of its pronunciation. The word teeny, meaning small, is pronounced with a relatively small vocal tract, with high front vowels characterized by retracted lips and a high-frequency second formant (Ohala, 1994). Thus, teeny can be recognized as iconic of “small” (compared to the larger vocal tract configuration of the back, rounded vowel in huge), a pattern that is documented in the lexicons of a diversity of languages (Ultan, 1978; Blasi et al., 2016). Lewis and Frank (2016) have studied a more abstract form of iconicity that more meaningfully complex words tend to be longer. An evaluation of many diverse languages revealed that conceptually more complex meanings tend to have longer spoken forms. In their study, participants tended to assign a relatively long novel word to a conceptually more complex referent. Understanding that more complex meaning is usually represented by a longer word could aid a child’s parsing of a stream of spoken language and thus facilitate word learning. Some developmental psychologists have theorized that iconicity helps young children learn words by “bootstrapping” or “bridging” the association between a symbol and its referent (Imai and Kita, 2014; Perniss and Vigliocco, 2014). According to this idea, children begin to master word learning with the aid of iconic cues, which help to profile the connection between the form of a word and its meaning out in the world. The learning of verbs in particular may benefit from iconicity, as the referents of verbs are more abstract and challenging for young children to identify (Gentner, 1982; Snedeker and Gleitman, 2004). By helping children gain a firmer grasp of the concept of a symbol, iconicity might set the stage for the ensuing word-learning spurt of non-iconic words. The hypothesis that iconicity plays a role in word learning is supported by experimental studies showing that young children are better at learning words—especially verbs—when they are iconic (Imai et al., 2008; Kantartzis et al., 2011; Yoshida, 2012). In one study, for example, 3-year-old Japanese children were taught a set of novel verbs for actions. Some of the words the children learned were iconic (“sound-symbolic”), created on the basis of iconic patterns found in Japanese mimetics (e.g., the novel word nosunosu for a slow manner of walking; Imai et al., 2008). The results showed that children were better able to generalize action words across agents when the verb was iconic of the action compared to when it was not. A subsequent study also using novel verbs based on Japanese mimetics replicated the finding with 3-year-old English-speaking children (Kantartzis et al., 2011). However, it remains to be determined whether children trained in an iconic condition can generalize their learning to a non-iconic condition that would not otherwise be learned. Children as young as 14 months of age have been shown to benefit from iconicity in word learning (Imai et al., 2015). These children were better at learning novel words for spikey and rounded shapes when the words were iconic, corresponding to kiki and bouba sound symbolism (e.g., Köhler, 1947; Ramachandran and Hubbard, 2001). If iconic words are indeed easier to learn, there should be a preponderance of iconic words early in the learning of natural languages. There is evidence that this is the case in signed languages, which are widely recognized to contain a prevalence of iconic signs [Klima and Bellugi, 1979; e.g., as evident in Signing Savvy (2016)]. Although the role of iconicity in sign acquisition has been disputed [e.g., Orlansky and Bonvillian, 1984; see Thompson (2011) for discussion], the most thorough study to date found that signs of British Sign Language (BSL) that were learned earlier by children tended to be more iconic (Thompson et al., 2012). Thompson et al.’s measure of the age of acquisition of signs came from parental reports from a version of the MacArthur-Bates Communicative Development Inventory (MCDI; Fenson et al., 1994) adapted for BSL (Woolfe et al., 2010). The iconicity of signs was taken from norms based on BSL signers’ judgments using a scale of 1 (not at all iconic) to 7 [highly iconic; see Vinson et al. (2008), for norming details and BSL videos]. Thompson et al. (2012) found a positive correlation between iconicity judgments and words understood and produced. This relationship held up even after controlling for the contribution of imageability and familiarity. Surprisingly, however, there was a significantly stronger correlation for older children (21- to 30-month olds) than for younger children (age 11- to 20-month olds). Thompson et al. suggested that the larger role for iconicity for the older children may result from their increasing cognitive abilities or their greater experience in understanding meaningful form-meaning mappings. However, this suggestion does not fit with the expectation that iconicity should play a larger role earlier in language use. Thus, although supporting a role for iconicity in word learning, the larger influence for older children is inconsistent with the bootstrapping hypothesis, in which iconicity should play a larger role earlier in vocabulary learning (Imai and Kita, 2014; Perniss and Vigliocco, 2014). There is also evidence in spoken languages that earlier learned words tend to be more iconic. Perry et al. (2015) collected iconicity ratings on the roughly 600 English and Spanish words that are learned earliest by children, selected from their respective MCDIs. Native speakers on Amazon Mechanical Turk rated the iconicity of the words on a scale from −5 to 5, where 5 indicated that a word was highly iconic, −5 that it sounded like the opposite of its meaning, and 0 that it was completely arbitrary. Their instructions to raters are given in the Appendix because the same instructions were used for acquiring our iconicity ratings. The Perry et al. (2015) results showed that the likelihood of a word in children’s production vocabulary in both English and Spanish at 30 months was positively correlated with the iconicity ratings, even when several other possible contributing factors were partialed out, including log word frequency, concreteness, and word length. The pattern in Spanish held for two collections of iconicity ratings, one with the verbs of the 600-word set presented in infinitive form, and one with the verbs conjugated in the third person singular form. In English, the correlation between age of acquisition and iconicity held when the ratings were collected for words presented in written form only and in written form plus a spoken recording. It also held for ratings based on a more implicit measure of iconicity in which participants rated how accurately a space alien could guess the meaning of the word based on its sound alone. The pattern in English also held when Perry et al. (2015) factored out the systematicity of words [taken from Monaghan et al. (2014)]. Systematicity is measured as a correlation between form similarity and meaning similarity—that is, the degree to which words with similar meanings have similar forms. Monaghan et al. computed systematicity for a large number of English words and found a negative correlation with the age of acquisition of the word from 2 to 13+ years of age—more systematic words are learned earlier. Monaghan et al. (2014) and Christiansen and Chater (2016) observe that consistent sound-meaning patterns may facilitate early vocabulary acquisition, but the child would soon have to master arbitrary relationships necessitated by increases in vocabulary size. In theory, systematicity, sometimes called “relative iconicity,” is independent of iconicity. For example, the English cluster gl– occurs systematically in several words related to “vision” and “light,” such as glitter, glimmer, and glisten (Bergen, 2004), but the segments bear no obvious resemblance to this meaning. Monaghan et al. (2014) question whether spoken languages afford sufficient degrees of articulatory freedom for words to be iconic but not systematic. As evidence, they give the example of onomatopoeic words for the calls of small animals (e.g., peep and cheep) versus calls of big animals (roar and grrr), which would systematically reflect the size of the animal. Although Perry et al. (2015) found a positive effect of iconicity at 30 months, they did not evaluate its influence across the first years of a child’s life. To address this question, we conduct a more detailed examination of the time course of iconicity in word learning across the first 4 years of expressive vocabulary acquisition. In addition, we examine the role of iconicity in the acquisition of receptive vocabulary as well as productive vocabulary. There is some evidence that although receptive vocabulary and productive vocabulary are correlated with one another, a variable might not have equivalent influences on these two expressions of vocabulary. Massaro and Rowe (2015), for example, showed that difficulty of articulation had a strong effect on word production but not word comprehension. Thus, it is possible that the influence of iconicity on vocabulary development differs between production and comprehension. In particular, a larger influence on comprehension might follow from the emphasis of the bootstrapping hypothesis on iconicity serving to perceptually cue children to the connection between the sound of a word and its meaning

Abstract

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05–21.6; P=1 × 10−4) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10−7). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08–1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.

Abstract

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, speech production, language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and language profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.

Abstract

Objective

Diffusion tensor imaging (DTI) studies in adolescent conduct disorder (CD) have demonstrated white matter alterations of tracts connecting functionally distinct fronto-limbic regions, but only in boys or mixed-gender samples. So far, no study has investigated white matter integrity in girls with CD on a whole-brain level. Therefore, our aim was to investigate white matter alterations in adolescent girls with CD.
Method

We collected high-resolution DTI data from 24 girls with CD and 20 typically developing control girls using a 3T magnetic resonance imaging system. Fractional anisotropy (FA) and mean diffusivity (MD) were analyzed for whole-brain as well as a priori−defined regions of interest, while controlling for age and intelligence, using a voxel-based analysis and an age-appropriate customized template.
Results

Whole-brain findings revealed white matter alterations (i.e., increased FA) in girls with CD bilaterally within the body of the corpus callosum, expanding toward the right cingulum and left corona radiata. The FA and MD results in a priori−defined regions of interest were more widespread and included changes in the cingulum, corona radiata, fornix, and uncinate fasciculus. These results were not driven by age, intelligence, or attention-deficit/hyperactivity disorder comorbidity.
Conclusion

This report provides the first evidence of white matter alterations in female adolescents with CD as indicated through white matter reductions in callosal tracts. This finding enhances current knowledge about the neuropathological basis of female CD. An increased understanding of gender-specific neuronal characteristics in CD may influence diagnosis, early detection, and successful intervention strategies.

Abstract

Branigan & Pickering (B&P) propose that the structural priming paradigm is a Royal Road to linguistic representations of any kind, unobstructed by in fl uences of psychological processes. In my view, however, they are too optimistic about the versatility of the paradigm and, more importantly, its ability to provide direct evidence about the nature of stored linguistic representations.

Abstract

As conversation is the most important way of using language, linguists and psychologists should combine forces to investigate how interlocutors deal with the cognitive demands arising during conversation. Linguistic analyses of corpora of conversation are needed to understand the structure of conversations, and experimental work is indispensable for understanding the underlying cognitive processes. We argue that joint consideration of corpus and experimental data is most informative when the utterances elicited in a lab experiment match those extracted from a corpus in relevant ways. This requirement to compare like with like seems obvious but is not trivial to achieve. To illustrate this approach, we report two experiments where responses to polar (yes/no) questions were elicited in the lab and the response latencies were compared to gaps between polar questions and answers in a corpus of conversational speech. We found, as expected, that responses were given faster when they were easy to plan and planning could be initiated earlier than when they were harder to plan and planning was initiated later. Overall, in all but one condition, the latencies were longer than one would expect based on the analyses of corpus data. We discuss the implication of this partial match between the data sets and more generally how corpus and experimental data can best be combined in studies of conversation.

Abstract

What are the phonological representations that listeners use to map information about the segmental content of speech onto the mental lexicon during spoken-word recognition? Recent evidence from perceptual-learning paradigms seems to support (context-dependent) allophones as the basic representational units in spoken-word recognition. But recent evidence from a selective-adaptation paradigm seems to suggest that context-independent phonemes also play a role. We present three experiments using selective adaptation that constitute strong tests of these representational hypotheses. In Experiment 1, we tested generalization of selective adaptation using different allophones of Dutch /r/ and /l/ – a case where generalization has not been found with perceptual learning. In Experiments 2 and 3, we tested generalization of selective adaptation using German back fricatives in which allophonic and phonemic identity were varied orthogonally. In all three experiments, selective adaptation was observed only if adaptors and test stimuli shared allophones. Phonemic identity, in contrast, was neither necessary nor sufficient for generalization of selective adaptation to occur. These findings and other recent data using the perceptual-learning paradigm suggest that pre-lexical processing during spoken-word recognition is based on allophones, and not on context-independent phonemes

Abstract

High-frequency units are usually processed faster than low-frequency units in language comprehension and language production. Frequency effects have been shown for words as well as word combinations. Word co-occurrence effects can be operationalized in terms of transitional probability (TP). TPs reflect how probable a word is, conditioned by its right or left neighbouring word. This corpus study investigates whether three different age groups–younger children (8–12 years), adolescents (12–18 years) and older (62–95 years) Dutch speakers–show frequency and TP context effects on spoken word durations in reading aloud, and whether age groups differ in the size of these effects. Results show consistent effects of TP on word durations for all age groups. Thus, TP seems to influence the processing of words in context, beyond the well-established effect of word frequency, across the entire age range. However, the study also indicates that age groups differ in the size of TP effects, with older adults having smaller TP effects than adolescent readers. Our results show that probabilistic reduction effects in reading aloud may at least partly stem from contextual facilitation that leads to faster reading times in skilled readers, as well as in young language learners.

Abstract

It has been observed by several researchers that the Khoisan palate tends to lack a prominent alveolar ridge. A biomechanical model of click production was created to examine if these sounds might be subject to an anatomical bias associated with alveolar ridge size. Results suggest the bias is plausible, taking the form of decreased articulatory effort and improved volume change characteristics; however, further modeling and experimental research is required to solidify the claim.

Abstract

Purpose: Recent proposals suggest that (a) the high dimensionality of speech motor control may be reduced via modular neuromuscular organization that takes advantage of intrinsic biomechanical regions of stability and (b) computational modeling provides a means to study whether and how such modularization works. In this study, the focus is on the larynx, a structure that is fundamental to speech production because of its role in phonation and numerous articulatory functions. Method: A 3-dimensional model of the larynx was created using the ArtiSynth platform (http://www.artisynth.org). This model was used to simulate laryngeal articulatory states, including inspiration, glottal fricative, modal prephonation, plain glottal stop, vocal–ventricular stop, and aryepiglotto– epiglottal stop and fricative. Results: Speech-relevant laryngeal biomechanics is rich with “quantal” or highly stable regions within muscle activation space. Conclusions: Quantal laryngeal biomechanics complement a modular view of speech control and have implications for the articulatory–biomechanical grounding of numerous phonetic and phonological phenomena

Abstract

There is substantial variation in language experience, yet there is surprising similarity in the language structure acquired. Constraints on language structure may be external modulators that result in this canalization of language structure, or else they may derive from the broader, communicative environment in which language is acquired. In this paper, the latter perspective is tested for its adequacy in explaining robustness of language learning to environmental variation. A computational model of word learning from cross‐situational, multimodal information was constructed and tested. Key to the model's robustness was the presence of multiple, individually unreliable information sources to support learning. This “degeneracy” in the language system has a detrimental effect on learning, compared to a noise‐free environment, but has a critically important effect on acquisition of a canalized system that is resistant to environmental noise in communication.

Abstract

Historically, first language acquisition research was a painstaking process of observation, requiring the laborious hand coding of children's linguistic productions, followed by the generation of abstract theoretical proposals for how the developmental process unfolds. Recently, the ability to collect large-scale corpora of children's language exposure has revolutionized the field. New techniques enable more precise measurements of children's actual language input, and these corpora constrain computational and cognitive theories of language development, which can then generate predictions about learning behavior. We describe several instances where corpus, computational, and experimental work have been productively combined to uncover the first language acquisition process and the richness of multimodal properties of the environment, highlighting how these methods can be extended to address related issues in second language research. Finally, we outline some of the difficulties that can be encountered when applying multimethod approaches and show how these difficulties can be obviated

Abstract

Individuals show differences in the extent to which psycholinguistic variables predict their responses for lexical processing tasks. A key variable accounting for much variance in lexical processing is frequency, but the size of the frequency effect has been demonstrated to reduce as a consequence of the individual’s vocabulary size. Using a connectionist computational implementation of the triangle model on a large set of English words, where orthographic, phonological, and semantic representations interact during processing, we show that the model demonstrates a reduced frequency effect as a consequence of amount of exposure to the language, a variable that was also a cause of greater vocabulary size in the model. The model was also trained to learn a second language, Dutch, and replicated behavioural observations that increased proficiency in a second language resulted in reduced frequency effects for that language but increased frequency effects in the first language. The model provides a first step to demonstrating causal relations between psycholinguistic variables in a model of individual differences in lexical processing, and the effect of bilingualism on interacting variables within the language processing system

Abstract

How does the human visual system accommodate expertise for two simultaneously acquired
symbolic systems? We used fMRI to compare activations induced in the visual
cortex by musical notation, written words and other classes of objects, in professional
musicians and in musically naı¨ve controls. First, irrespective of expertise, selective activations
for music were posterior and lateral to activations for words in the left occipitotemporal
cortex. This indicates that symbols characterized by different visual features
engage distinct cortical areas. Second, musical expertise increased the volume of activations
for music and led to an anterolateral displacement of word-related activations. In
musicians, there was also a dramatic increase of the brain-scale networks connected to the
music-selective visual areas. Those findings reveal that acquiring a double visual expertise
involves an expansion of category-selective areas, the development of novel long-distance
functional connectivity, and possibly some competition between categories for the colonization
of cortical space

Abstract

Propagation of novel linguistic terms is an important aspect of language use and language
change. Here, we test how social network size influences people’s likelihood of adopting novel
labels by examining hashtag use on Twitter. Specifically, we test whether following fewer Twitter
users leads to more varied and malleable hashtag use on Twitter , because each followed user is
ascribed greater weight and thus exerts greater influence on the following user. Focusing on Dutch
users tweeting about the terrorist attack in Brussels in 2016, we show that people who follow
fewer other users use a larger number of unique hashtags to refer to the event, reflecting greater
malleability and variability in use. These results have implications for theories of language learning, language use, and language change.

Abstract

Does the way we talk about events correspond to how we conceptualize them? Three experiments (N = 135) examined how Spanish and Swedish native speakers judge event similarity in the domain of caused motion (‘He rolled the tyre into the barn’). Spanish and Swedish motion descriptions regularly encode path (‘into’), but differ in how systematically they include manner information (‘roll’). We designed a similarity arrangement task which allowed participants to give varying weights to different dimensions when gauging event similarity. The three experiments progressively reduced the likelihood that speakers were using language to solve the task. We found that, as long as the use of language was possible (Experiments 1 and 2), Swedish speakers were more likely than Spanish speakers to base their similarity arrangements on object manner (rolling/sliding). However, when recruitment of language was hindered through verbal interference, cross-linguistic differences disappeared (Experiment 3). A compound analysis of all experiments further showed that (i) cross-linguistic differences were played out against a backdrop of commonly represented event components, and (ii) describing vs. not describing the events did not augment cross-linguistic differences, but instead had similar effects across languages. We interpret these findings as suggesting a dynamic role of language in event conceptualization.

Abstract

Is motion cognition influenced by the large-scale typological patterns proposed in Talmy’s (2000) two-way distinction between verb-framed (V) and satellite-framed (S) languages? Previous studies investigating this question have been limited to comparing two or three languages at a time and have come to conflicting results. We present the largest cross-linguistic study on this question to date, drawing on data from nineteen genealogically diverse languages, all investigated in the same behavioral paradigm and using the same stimuli. After controlling for the different dependencies in the data by means of multilevel regression models, we find no evidence that S- vs. V-framing affects nonverbal categorization of motion events. At the same time, statistical simulations suggest that our study and previous work within the same behavioral paradigm suffer from insufficient statistical power. We discuss these findings in the light of the great variability between participants, which suggests flexibility in motion representation. Furthermore, we discuss the importance of accounting for language variability, something which can only be achieved with large cross-linguistic samples.

Abstract

Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. Here we examine the communication phenotype associated with KdVS. Twenty-nine participants (12 males, 4 with KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0–27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding difficulties. Speech and language development was delayed and atypical from onset of first words (2; 5–3; 5 years of age on average). Speech was characterised by apraxia (100%) and dysarthria (93%), with stuttering in some (17%). Speech therapy and multi-modal communication (e.g., sign-language) was critical in preschool. Receptive and expressive language abilities were typically commensurate (79%), both being severely affected relative to peers. Children were sociable with a desire to communicate, although some (36%) had pragmatic impairments in domains, where higher-level language was required. A common phenotype was identified, including an overriding ‘double hit’ of oral hypotonia and apraxia in infancy and preschool, associated with severely delayed speech development. Remarkably however, speech prognosis was positive; apraxia resolved, and although dysarthria persisted, children were intelligible by mid-to-late childhood. In contrast, language and literacy deficits persisted, and pragmatic deficits were apparent. Children with KdVS require early, intensive, speech motor and language therapy, with targeted literacy and social language interventions as developmentally appropriate. Greater understanding of the linguistic phenotype may help unravel the relevance of KANSL1 to child speech and language development.

Abstract

A relatively new analysis technique, known as neural decoding or multivariate pattern analysis (MVPA), has become increasingly popular for cognitive neuroimaging studies over recent years. These techniques promise to uncover the representational contents of neural signals, as well as the underlying code and the dynamic profile thereof. A field in which these techniques have led to novel insights in particular is that of visual working memory (VWM). In the present study, we subjected human volunteers to a combined VWM/imagery task while recording their neural signals using magnetoencephalography (MEG). We applied multivariate decoding analyses to uncover the temporal profile underlying the neural representations of the memorized item. Analysis of gaze position however revealed that our results were contaminated by systematic eye movements, suggesting that the MEG decoding results from our originally planned analyses were confounded. In addition to the eye movement analyses, we also present the original analyses to highlight how these might have readily led to invalid conclusions. Finally, we demonstrate a potential remedy, whereby we train the decoders on a functional localizer that was specifically designed to target bottom-up sensory signals and as such avoids eye movements. We conclude by arguing for more awareness of the potentially pervasive and ubiquitous effects of eye movement-related confounds.

Abstract

We conducted three neighborhood experiments with Dutch-English bilinguals to test effects of L2 proficiency and neighborhood characteristics within and between languages. In the past 20 years, the English (L2) proficiency of this population has considerably increased. To consider the impact of this development on neighborhood effects, we conducted a strict replication of the English lexical decision task by van Heuven, Dijkstra, & Grainger (1998, Exp. 4). In line with our prediction, English characteristics (neighborhood size, word and bigram frequency) dominated the word and nonword responses, while the nonwords also revealed an interaction of English and Dutch neighborhood size.
The prominence of English was tested again in two experiments introducing a stronger neighborhood manipulation. In English lexical decision and progressive demasking, English items with no orthographic neighbors at all were contrasted with items having neighbors in English or Dutch (‘hermits’) only, or in both languages. In both tasks, target processing was affected strongly by the presence of English neighbors, but only weakly by Dutch neighbors. Effects are interpreted in terms of two underlying processing mechanisms: language-specific global lexical activation and lexical competition.

Abstract

NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy–like phenotype in a subset of patients.

Abstract

The aim of this study was to investigate whether stereoscopy can play a meaningful role in dental education. The study used an anaglyph technique in which two images were presented separately to the left and right eyes (using red/cyan filters), which, combined in the brain, give enhanced depth perception. A positional judgment task was performed to assess whether the use of stereoscopy would enhance depth perception among dental students at Osaka University in Japan. Subsequently, the optimum angle was evaluated to obtain maximum ability to discriminate among complex anatomical structures. Finally, students completed a questionnaire on a range of matters concerning their experience with stereoscopic images including their views on using stereoscopy in their future careers. The results showed that the students who used stereoscopy were better able than students who did not to appreciate spatial relationships between structures when judging relative positions. The maximum ability to discriminate among complex anatomical structures was between 2 and 6 degrees. The students' overall experience with the technique was positive, and although most did not have a clear vision for stereoscopy in their own practice, they did recognize its merits for education. These results suggest that using stereoscopic images in dental education can be quite valuable as stereoscopy greatly helped these students' understanding of the spatial relationships in complex anatomical structures.

Abstract

A commentary on
FOXP2 drives neuronal differentiation by interacting with retinoic acid signaling pathways

by Devanna, P., Middelbeek, J., and Vernes, S. C. (2014). Front. Cell. Neurosci. 8:305. doi: 10.3389/fncel.2014.00305

Abstract

Motor cortex activation observed during body-related verb processing hints at simulation accompanying linguistic understanding. By exploiting the up- and down-regulation that anodal and cathodal transcranial direct current stimulation (tDCS) exert on motor cortical excitability, we aimed at further characterizing the functional contribution of the motor system to linguistic processing. In a double-blind sham-controlled within-subjects design, online stimulation was applied to the left hemispheric hand-related motor cortex of 20 healthy subjects. A dual, double-dissociation task required participants to semantically discriminate concrete (hand/foot) from abstract verb primes as well as to respond with the hand or with the foot to verb-unrelated geometric targets. Analyses were conducted with linear mixed models. Semantic priming was confirmed by faster and more accurate reactions when the response effector was congruent with the verb’s body part. Cathodal stimulation induced faster responses for hand verb primes thus indicating a somatotopical distribution of cortical activation as induced by body-related verbs. Importantly, this effect depended on performance in semantic discrimination. The current results point to verb processing being selectively modifiable by neuromodulation and at the same time to a dependence of tDCS effects on enhanced simulation. We discuss putative mechanisms operating in this reciprocal dependence of neuromodulation and motor resonance.

Abstract

Do people routinely pre-activate the meaning and even the phonological form of upcoming words? The most acclaimed evidence for phonological prediction comes from a 2005 Nature Neuroscience publication by DeLong, Urbach and Kutas, who observed a graded modulation of electrical brain potentials (N400) to nouns and preceding articles by the probability that people use a word to continue the sentence fragment (‘cloze’). In our direct replication study spanning 9 laboratories (N=334), pre-registered replication-analyses and exploratory Bayes factor analyses successfully replicated the noun-results but, crucially, not the article-results. Pre-registered single-trial analyses also yielded a statistically significant effect for the nouns but not the articles. Exploratory Bayesian single-trial analyses showed that the article-effect may be non-zero but is likely far smaller than originally reported and too small to observe without very large sample sizes. Our results do not support the view that readers routinely pre-activate the phonological form of predictable words.

Abstract

The ability to use words to refer to the world is vital to the communicative power of human language. In particular, the anaphoric use of words to refer to previously mentioned concepts (antecedents) allows dialogue to be coherent and meaningful. Psycholinguistic theory posits that anaphor comprehension involves reactivating a memory representation of the antecedent. Whereas this implies the involvement of recognition memory, or the mnemonic sub-routines by which people distinguish old from new, the neural processes for reference resolution are largely unknown. Here, we report time-frequency analysis of four EEG experiments to reveal the increased coupling of functional neural systems associated with referentially coherent expressions compared to referentially problematic expressions. Despite varying in modality, language, and type of referential expression, all experiments showed larger gamma-band power for referentially coherent expressions compared to referentially problematic expressions. Beamformer analysis in high-density Experiment 4 localised the gamma-band increase to posterior parietal cortex around 400-600 ms after anaphor-onset and to frontaltemporal cortex around 500-1000 ms. We argue that the observed gamma-band power increases reflect successful referential binding and resolution, which links incoming information to antecedents through an interaction between the brain’s recognition memory networks and frontal-temporal language network. We integrate these findings with previous results from patient and neuroimaging studies, and we outline a nascent cortico-hippocampal theory of reference.

Abstract

We present a significant extension of the Brain Imaging Data Structure (BIDS) to support the specific
aspects of magnetoencephalography (MEG) data. MEG measures brain activity with millisecond
temporal resolution and unique source imaging capabilities. So far, BIDS was a solution to organise
magnetic resonance imaging (MRI) data. The nature and acquisition parameters of MRI and MEG data
are strongly dissimilar. Although there is no standard data format for MEG, we propose MEG-BIDS as a
principled solution to store, organise, process and share the multidimensional data volumes produced
by the modality. The standard also includes well-defined metadata, to facilitate future data
harmonisation and sharing efforts. This responds to unmet needs from the multimodal neuroimaging
community and paves the way to further integration of other techniques in electrophysiology. MEGBIDS
builds on MRI-BIDS, extending BIDS to a multimodal data structure. We feature several dataanalytics
software that have adopted MEG-BIDS, and a diverse sample of open MEG-BIDS data
resources available to everyone.

Abstract

Background: Several nonpsychotic psychiatric disorders in childhood and adolescence can precede the onset of schizophrenia, but the etiology of this relationship remains unclear. We investigated to what extent the association between schizophrenia and psychiatric disorders in childhood is explained by correlated genetic risk factors. Methods: Polygenic risk scores (PRS), reflecting an individual’s genetic risk for schizophrenia, were constructed for 2588 children from the Netherlands Twin Register (NTR) and 6127 from the Avon Longitudinal Study of Parents And Children (ALSPAC). The associations between schizophrenia PRS and measures of anxiety, depression, attention deficit hyperactivity disorder (ADHD), and oppositional defiant disorder/conduct disorder (ODD/CD) were estimated at age 7, 10, 12/13, and 15 years in the 2 cohorts. Results were then meta-analyzed, and a meta-regression analysis was performed to test differences in effects sizes over, age and disorders. Results: Schizophrenia PRS were associated with childhood and adolescent psychopathology. Meta-regression analysis showed differences in the associations over disorders, with the strongest association with childhood and adolescent depression and a weaker association for ODD/CD at age 7. The associations increased with age and this increase was steepest for ADHD and ODD/CD. Genetic correlations varied between 0.10 and 0.25. Conclusion: By optimally using longitudinal data across diagnoses in a multivariate meta-analysis this study sheds light on the development of childhood disorders into severe adult psychiatric disorders. The results are consistent with a common genetic etiology of schizophrenia and developmental psychopathology as well as with a stronger shared genetic etiology between schizophrenia and adolescent onset psychopathology.

Abstract

This study sought to identify trajectories of DSM-IV based internalizing (INT) and externalizing (EXT) problem scores across childhood and adolescence and to provide insight into the comorbidity by modeling the co-occurrence of INT and EXT trajectories. INT and EXT were measured repeatedly between age 7 and age 15 years in over 7,000 children and analyzed using growth mixture models. Five trajectories were identified for both INT and EXT, including very low, low, decreasing, and increasing trajectories. In addition, an adolescent onset trajectory was identified for INT and a stable high trajectory was identified for EXT. Multinomial regression showed that similar EXT and INT trajectories were associated. However, the adolescent onset INT trajectory was independent of high EXT trajectories, and persisting EXT was mainly associated with decreasing INT. Sex and early life environmental risk factors predicted EXT and, to a lesser extent, INT trajectories. The association between trajectories indicates the need to consider comorbidity when a child presents with INT or EXT disorders, particularly when symptoms start early. This is less necessary when INT symptoms start at adolescence. Future studies should investigate the etiology of co-occurring INT and EXT and the specific treatment needs of these severely affected children.

Abstract

Our senses are constantly bombarded with a myriad of signals. To make sense of this cacophony, the brain needs to integrate signals emanating from a common source, but segregate signals originating from the different sources. Thus, multisensory perception relies critically on inferring the world’s causal structure (i. e. one common vs. multiple independent sources). Behavioural research has shown that the brain arbitrates between sensory integration and segregation consistent with the principles of Bayesian Causal Inference. At the neural level, recent functional magnetic resonance imaging (fMRI) and electroencephalography (EEG) studies have shown that the brain accomplishes Bayesian Causal Inference by dynamically encoding multiple perceptual estimates across the sensory processing hierarchies. Only at the top of the hierarchy in anterior parietal cortices did the brain form perceptual estimates that take into account the observer’s uncertainty about the world’s causal structure consistent with Bayesian Causal Inference.

Abstract

Lateralization is a fundamental principle of nervous system organization but its molecular determinants are mostly unknown. In humans, asymmetric gene expression in the fetal cortex has been suggested as the molecular basis of handedness. However, human fetuses already show considerable asymmetries in arm movements before the motor cortex is functionally linked to the spinal cord, making it more likely that spinal gene expression asymmetries form the molecular basis of handedness. We analyzed genome-wide mRNA expression and DNA methylation in cervical and anterior thoracal spinal cord segments of five human fetuses and show development-dependent gene expression asymmetries. These gene expression asymmetries were epigenetically regulated by miRNA expression asymmetries in the TGF-β signaling pathway and lateralized methylation of CpG islands. Our findings suggest that molecular mechanisms for epigenetic regulation within the spinal cord constitute the starting point for handedness, implying a fundamental shift in our understanding of the ontogenesis of hemispheric asymmetries in humans

Abstract

The study of iconicity, defined as the direct relationship between a linguistic form and its referent, has gained momentum in recent years across a wide range of disciplines. In the spoken modality, there is abundant evidence showing that iconicity is a key factor that facilitates language acquisition. However, when we look at sign languages, which excel in the prevalence of iconic structures, there is a more mixed picture, with some studies showing a positive effect and others showing a null or negative effect. In an attempt to reconcile the existing evidence the present review presents a critical overview of the literature on the acquisition of a sign language as first (L1) and second (L2) language and points at some factor that may be the source of disagreement. Regarding sign L1 acquisition, the contradicting findings may relate to iconicity being defined in a very broad sense when a more fine-grained operationalisation might reveal an effect in sign learning. Regarding sign L2 acquisition, evidence shows that there is a clear dissociation in the effect of iconicity in that it facilitates conceptual-semantic aspects of sign learning but hinders the acquisition of the exact phonological form of signs. It will be argued that when we consider the gradient nature of iconicity and that signs consist of a phonological form attached to a meaning we can discern how iconicity impacts sign learning in positive and negative ways

Abstract

Recent research on signed as well as spoken language shows that the iconic features of the target language might play a role in language development. Here, we ask further whether different types of iconic depictions modulate children’s preferences for certain types of sign-referent links during vocabulary development in sign language. Results from a picture description task indicate that lexical signs with 2 possible variants are used in different proportions by deaf signers from different age groups. While preschool and school-age children favored variants representing actions associated with their referent (e.g., a writing hand for the sign PEN), adults preferred variants representing the perceptual features of those objects (e.g., upward index finger representing a thin, elongated object for the sign PEN). Deaf parents interacting with their children, however, used action- and perceptual-based variants in equal proportion and favored action variants more than adults signing to other adults. We propose that when children are confronted with 2 variants for the same concept, they initially prefer action-based variants because they give them the opportunity to link a linguistic label to familiar schemas linked to their action/motor experiences. Our results echo findings showing a bias for action-based depictions in the development of iconic co-speech gestures suggesting a modality bias for such representations during development.

Abstract

The notion that processing spoken (object) words involves activation of category-specific representations in visual cortex is a key prediction of modality-specific theories of representation that contrasts with theories assuming dedicated conceptual representational systems abstracted away from sensorimotor systems. In the present study, we investigated whether participants can detect otherwise invisible pictures of objects when they are presented with the corresponding spoken word shortly before the picture appears. Our results showed facilitated detection for congruent ("bottle" -> picture of a bottle) vs. incongruent ("bottle" -> picture of a banana) trials. A second experiment investigated the time-course of the effect by manipulating the timing of picture presentation relative to word onset and revealed that it arises as soon as 200-400ms after word onset and decays at 600ms after word onset. Together, these data strongly suggest that spoken words can rapidly activate low-level category-specific visual representations that affect the mere detection of a stimulus, i.e. what we see. More generally our findings fit best with the notion that spoken words activate modality-specific visual representations that are low-level enough to provide information related to a given token and at the same time abstract enough to be relevant not only for previously seen tokens but also for generalizing to novel exemplars one has never seen before.

Abstract

It is well established that the comprehension of spoken words referring to object concepts relies on high-level visual areas in the ventral stream that build increasingly abstract representations. It is much less clear whether basic low-level visual representations are also involved. Here we asked in what task situations low-level visual representations contribute functionally to concrete word comprehension using an interference paradigm. We interfered with basic visual processing while participants performed a concreteness task (Experiment 1), a lexical decision task (Experiment 2), and a word class judgment task (Experiment 3). We found that visual noise interfered more with concrete vs. abstract word processing, but only when the task required visual information to be accessed. This suggests that basic visual processes can be causally involved in language comprehension, but that their recruitment is not automatic and rather depends on the type of information that is required in a given task situation.

Abstract

Previous research has shown that processing words with an up/down association (e.g., bird, foot) can influence the subsequent identification of visual targets in congruent location (at the top/bottom of the screen). However, as facilitation and interference were found under similar conditions, the nature of the underlying mechanisms remained unclear. We propose that word comprehension relies on the perceptual simulation of a prototypical event involving the entity denoted by a word in order to provide a general account of the different findings. In three experiments, participants had to discriminate between two target pictures appearing at the top or the bottom of the screen by pressing the left vs. right button. Immediately before the targets appeared, they saw an up/down word belonging to the target’s event, an up/down word unrelated to the target, or a spatially neutral control word. Prime words belonging to target event facilitated identification of targets at 250ms SOA (experiment 1), but only when presented in the vertical location where they are typically seen, indicating that targets were integrated in the simulations activated by the prime words. Moreover, at the same SOA, there was a robust facilitation effect for targets appearing in their typical location regardless of the prime type. However, when words were presented for 100ms (experiment 2) or 800ms (experiment 3), only a location non-specific priming effect was found, suggesting that the visual system was not activated. Implications for theories of semantic processing are discussed.

Abstract

Implicit up/down words, such as bird and foot, systematically influence performance on visual tasks involving immediately following targets in compatible vs. incompatible locations. Recent studies have observed that the semantic relation between prime words and target pictures can strongly influence the size and even the direction of the effect: Semantically related targets are processed faster in congruent vs. incongruent locations (location-specific priming), whereas unrelated targets are processed slower in congruent locations. Here, we used eye-tracking to investigate the moment-to-moment processes underlying this pattern. Our reaction time results for related targets replicated the location-specific priming effect and showed a trend towards interference for unrelated targets. We then used growth curve analysis to test how up/down words and their match vs. mismatch with immediately following targets in terms of semantics and vertical location influences concurrent saccadic eye movements. There was a strong main effect of spatial association on linear growth with up words biasing changes in y-coordinates over time upwards relative to down words (and vice versa). Similar to the RT data, this effect was strongest for semantically related targets and reversed for unrelated targets. Intriguingly, all conditions showed a bias in the congruent direction in the initial stage of the saccade. Then, at around halfway into the saccade the effect kept increasing in the semantically related condition, and reversed in the unrelated condition. These results suggest that online processing of up/down words triggers direction-specific oculomotor processes that are dynamically modulated by the semantic relation between prime words and targets.

Abstract

Although humans can understand speech using the auditory modality alone, in noisy environments visual speech information from the talker’s mouth can rescue otherwise unintelligible auditory speech. To investigate the neural substrates of multisensory speech perception, we compared neural activity from the human superior temporal gyrus (STG) in two datasets. One dataset consisted of direct neural recordings (electrocorticography, ECoG) from surface electrodes implanted in epilepsy patients (this dataset has been previously published). The second dataset consisted of indirect measures of neural activity using blood oxygen level dependent functional magnetic resonance imaging (BOLD fMRI). Both ECoG and fMRI participants viewed the same clear and noisy audiovisual speech stimuli and performed the same speech recognition task. Both techniques demonstrated a sharp functional boundary in the STG, spatially coincident with an anatomical boundary defined by the posterior edge of Heschl’s gyrus. Cortex on the anterior side of the boundary responded more strongly to clear audiovisual speech than to noisy audiovisual speech while cortex on the posterior side of the boundary did not. For both ECoG and fMRI measurements, the transition between the functionally distinct regions happened within 10 mm of anterior-to-posterior distance along the STG. We relate this boundary to the multisensory neural code underlying speech perception and propose that it represents an important functional division within the human speech perception network.

Abstract

Human speech can be comprehended using only auditory information from the talker's voice. However, comprehension is improved if the talker's face is visible, especially if the auditory information is degraded as occurs in noisy environments or with hearing loss. We explored the neural substrates of audiovisual speech perception using electrocorticography, direct recording of neural activity using electrodes implanted on the cortical surface. We observed a double dissociation in the responses to audiovisual speech with clear and noisy auditory component within the superior temporal gyrus (STG), a region long known to be important for speech perception. Anterior STG showed greater neural activity to audiovisual speech with clear auditory component, whereas posterior STG showed similar or greater neural activity to audiovisual speech in which the speech was replaced with speech-like noise. A distinct border between the two response patterns was observed, demarcated by a landmark corresponding to the posterior margin of Heschl's gyrus. To further investigate the computational roles of both regions, we considered Bayesian models of multisensory integration, which predict that combining the independent sources of information available from different modalities should reduce variability in the neural responses. We tested this prediction by measuring the variability of the neural responses to single audiovisual words. Posterior STG showed smaller variability than anterior STG during presentation of audiovisual speech with noisy auditory component. Taken together, these results suggest that posterior STG but not anterior STG is important for multisensory integration of noisy auditory and visual speech.

Abstract

When combined with source modeling, magneto- (MEG) and electroencephalography (EEG) can be used to study
long-range interactions among cortical processes non-invasively. Estimation of such inter-areal connectivity is
nevertheless hindered by instantaneous field spread and volume conduction, which artificially introduce linear
correlations and impair source separability in cortical current estimates. To overcome the inflating effects of linear
source mixing inherent to standard interaction measures, alternative phase- and amplitude-correlation based
connectivity measures, such as imaginary coherence and orthogonalized amplitude correlation have been proposed.
Being by definition insensitive to zero-lag correlations, these techniques have become increasingly popular
in the identification of correlations that cannot be attributed to field spread or volume conduction. We show here,
however, that while these measures are immune to the direct effects of linear mixing, they may still reveal large
numbers of spurious false positive connections through field spread in the vicinity of true interactions. This
fundamental problem affects both region-of-interest-based analyses and all-to-all connectome mappings. Most
importantly, beyond defining and illustrating the problem of spurious, or “ghost” interactions, we provide a
rigorous quantification of this effect through extensive simulations. Additionally, we further show that signal
mixing also significantly limits the separability of neuronal phase and amplitude correlations. We conclude that
spurious correlations must be carefully considered in connectivity analyses in MEG/EEG source space even when
using measures that are immune to zero-lag correlations.

Abstract

Visual selective attention operates through top–down mechanisms of signal enhancement and suppression, mediated by a-band oscillations. The effects of such top–down signals on local processing in primary visual cortex (V1) remain poorly understood. In this work, we characterize the interplay between large-s cale interactions and local activity changes in V1 that orchestrat es selective attention, using Granger-causality and phase-amplitude coupling (PAC) analysis of EEG source signals. The task required participants to either attend to or ignore oriented gratings. Results from time-varying, directed connectivity analysis revealed frequency-specific effects of attentional selection: bottom–up g-band influences from visual areas increased rapidly in response to attended stimuli while distributed top–down a-band influences originated from parietal cortex in response to ignored stimuli. Importantly, the results revealed a critical interplay between top–down parietal signals and a–g PAC in visual areas.
Parietal a-band influences disrupted the a–g coupling in visual cortex, which in turn reduced the amount of g-band outflow from visual area s. Our results are a first demon stration of how directed interactions affect cross-frequency coupling in downstream areas depending on task demands. These findings suggest that parietal cortex realizes selective attention by disrupting cross-frequency coupling at target regions, which prevents them from propagating task-irrelevant information.

Abstract

The use of immersive virtual reality as a research tool is rapidly increasing in numerous scientific disciplines. By combining ecological validity with strict experimental control, immersive virtual reality provides the potential to develop and test scientific theory in rich environments that closely resemble everyday settings. This article introduces the first standardized database of colored three-dimensional (3D) objects that can be used in virtual reality and augmented reality research and applications. The 147 objects have been normed for name agreement, image agreement, familiarity, visual complexity, and corresponding lexical characteristics of the modal object names. The availability of standardized 3D-objects for virtual reality research is important, as reaching valid theoretical conclusions critically hinges on the use of well controlled experimental stimuli. Sharing standardized 3D-objects across different virtual reality labs will allow for science to move forward more quickly.

Abstract

In everyday communication speakers often refer in speech and/or gesture to objects in their immediate environment, thereby shifting their addressee's attention to an intended referent. The neurobiological infrastructure involved in the comprehension of such basic multimodal communicative acts remains unclear. In an event-related fMRI study, we presented participants with pictures of a speaker and two objects while they concurrently listened to her speech. In each picture, one of the objects was singled out, either through the speaker's index-finger pointing gesture or through a visual cue that made the object perceptually more salient in the absence of gesture. A mismatch (compared to a match) between speech and the object singled out by the speaker's pointing gesture led to enhanced activation in left IFG and bilateral pMTG, showing the importance of these areas in conceptual matching between speech and referent. Moreover, a match (compared to a mismatch) between speech and the object made salient through a visual cue led to enhanced activation in the mentalizing system, arguably reflecting an attempt to converge on a jointly attended referent in the absence of pointing. These findings shed new light on the neurobiological underpinnings of the core communicative process of comprehending a speaker's multimodal referential act and stress the power of pointing as an important natural device to link speech to objects.

Abstract

Bilinguals often switch languages as a function of the language background of their addressee. The control mechanisms supporting bilinguals' ability to select the contextually appropriate language are heavily debated. Here we present four experiments in which unbalanced bilinguals named pictures in their first language Dutch and their second language English in mixed and blocked contexts. Immersive virtual reality technology was used to increase the ecological validity of the cued language-switching paradigm. Behaviorally, we consistently observed symmetrical switch costs, reversed language dominance, and asymmetrical mixing costs. These findings indicate that unbalanced bilinguals apply sustained inhibition to their dominant L1 in mixed language settings. Consequent enhanced processing costs for the L1 in a mixed versus a blocked context were reflected by a sustained positive component in event-related potentials. Methodologically, the use of virtual reality opens up a wide range of possibilities to study language and communication in bilingual and other communicative settings.

Abstract

Gesture-first theories of language origins often raise two unsubstantiated arguments against vocal origins. First, they argue that great ape vocal behavior is highly constrained, limited to a fixed, species-typical repertoire of reflexive calls. Second, they argue that vocalizations lack any significant potential to ground meaning through iconicity, or resemblance between form and meaning. This paper reviews the considerable evidence that debunks these two “myths”. Accumulating evidence shows that the great apes exercise voluntary control over their vocal behavior, including their breathing, larynx, and supralaryngeal articulators. They are also able to learn new vocal behaviors, and even show some rudimentary ability for vocal imitation. In addition, an abundance of research demonstrates that the vocal modality affords rich potential for iconicity. People can understand iconicity in sound symbolism, and they can produce iconic vocalizations to communicate a diverse range of meanings. Thus, two of the primary arguments against vocal origins theories are not tenable. As an alternative, the paper concludes that the origins of language – going as far back as our last common ancestor with great apes – are rooted in iconicity in both gesture and vocalization.

Abstract

Considerable evidence now shows that all languages, signed and spoken, exhibit a significant amount of iconicity. We examined how the visual-gestural modality of signed languages facilitates iconicity for different kinds of lexical meanings compared to the auditory-vocal modality of spoken languages. We used iconicity ratings of hundreds of signs and words to compare iconicity across the vocabularies of two signed languages – American Sign Language and British Sign Language, and two spoken languages – English and Spanish. We examined (1) the correlation in iconicity ratings between the languages; (2) the relationship between iconicity and an array of semantic variables (ratings of concreteness, sensory experience, imageability, perceptual strength of vision, audition, touch, smell and taste); (3) how iconicity varies between broad lexical classes (nouns, verbs, adjectives, grammatical words and adverbs); and (4) between more specific semantic categories (e.g., manual actions, clothes, colors). The results show several notable patterns that characterize how iconicity is spread across the four vocabularies. There were significant correlations in the iconicity ratings between the four languages, including English with ASL, BSL, and Spanish. The highest correlation was between ASL and BSL, suggesting iconicity may be more transparent in signs than words. In each language, iconicity was distributed according to the semantic variables in ways that reflect the semiotic affordances of the modality (e.g., more concrete meanings more iconic in signs, not words; more auditory meanings more iconic in words, not signs; more tactile meanings more iconic in both signs and words). Analysis of the 220 meanings with ratings in all four languages further showed characteristic patterns of iconicity across broad and specific semantic domains, including those that distinguished between signed and spoken languages (e.g., verbs more iconic in ASL, BSL, and English, but not Spanish; manual actions especially iconic in ASL and BSL; adjectives more iconic in English and Spanish; color words especially low in iconicity in ASL and BSL). These findings provide the first quantitative account of how iconicity is spread across the lexicons of signed languages in comparison to spoken languages

Abstract

Great apes and siamangs—but not humans—possess laryngeal air sacs, suggesting that they were lost over hominin evolution. The absence of air sacs in humans may hold clues to speech evolution, but little is known about their functions in extant apes. We investigated whether gorillas use their air sacs to produce the staccato ‘growling’ of the silverback chest beat display. This hypothesis was formulated after viewing a nature documentary showing a display by a silverback western gorilla (Kingo). As Kingo growls, the video shows distinctive vibrations in his chest and throat under which the air sacs extend. We also investigated whether other similarly staccato vocalizations—the whinny, sex whinny, and copulation grunt—might also involve the air sacs. To examine these hypotheses, we collected an opportunistic sample of video and audio evidence from research records and another documentary of Kingo’s group, and from videos of other gorillas found on YouTube. Analysis shows that the four vocalizations are each emitted in rapid pulses of a similar frequency (8–16 pulses per second), and limited visual evidence indicates that they may all occur with upper torso vibrations. Future research should determine how consistently the vibrations co-occur with the vocalizations, whether they are synchronized, and their precise location and timing. Our findings fit with the hypothesis that apes—especially, but not exclusively males—use their air sacs for vocalizations and displays related to size exaggeration for sex and territory. Thus changes in social structure, mating, and sexual dimorphism might have led to the obsolescence of the air sacs and their loss in hominin evolution.

Abstract

Iconicity – the correspondence between form and meaning – may help young children learn to use new words. Early-learned words are higher in iconicity than later learned words. However, it remains unclear what role iconicity may play in actual language use. Here, we ask whether iconicity relates not just to the age at which words are acquired, but also to how frequently children and adults use the words in their speech. If iconicity serves to bootstrap word learning, then we would expect that children should say highly iconic words more frequently than less iconic words, especially early in development. We would also expect adults to use iconic words more often when speaking to children than to other adults. We examined the relationship between frequency and iconicity for approximately 2000 English words. Replicating previous findings, we found that more iconic words are learned earlier. Moreover, we found that more iconic words tend to be used more by younger children, and adults use more iconic words when speaking to children than to other adults. Together, our results show that young children not only learn words rated high in iconicity earlier than words low in iconicity, but they also produce these words more frequently in conversation – a pattern that is reciprocated by adults when speaking with children. Thus, the earliest conversations of children are relatively higher in iconicity, suggesting that this iconicity scaffolds the production and comprehension of spoken language during early development.

Abstract

Different frequency bands in the electroencephalogram are postulated to support distinct language functions. Studies have suggested
that alpha–beta power decreases may index word-retrieval processes. In context-driven word retrieval, participants hear
lead-in sentences that either constrain the final word (‘He locked the door with the’) or not (‘She walked in here with the’). The last
word is shown as a picture to be named. Previous studies have consistently found alpha–beta power decreases prior to picture
onset for constrained relative to unconstrained sentences, localised to the left lateral-temporal and lateral-frontal lobes. However,
the relative contribution of temporal versus frontal areas to alpha–beta power decreases is unknown. We recorded the electroencephalogram
from patients with stroke lesions encompassing the left lateral-temporal and inferior-parietal regions or left-lateral
frontal lobe and from matched controls. Individual participant analyses revealed a behavioural sentence context facilitation effect
in all participants, except for in the two patients with extensive lesions to temporal and inferior parietal lobes. We replicated the
alpha–beta power decreases prior to picture onset in all participants, except for in the two same patients with extensive posterior
lesions. Thus, whereas posterior lesions eliminated the behavioural and oscillatory context effect, frontal lesions did not. Hierarchical
clustering analyses of all patients’ lesion profiles, and behavioural and electrophysiological effects identified those two
patients as having a unique combination of lesion distribution and context effects. These results indicate a critical role for the left
lateral-temporal and inferior parietal lobes, but not frontal cortex, in generating the alpha–beta power decreases underlying context-
driven word production.

Abstract

In The Netherlands, grammar teaching is an especially important subject in the curriculum of children aged 10-15 for several reasons. However, in spite of all attention and time invested, the results are poor. This article describes the problems and our attempt to overcome them by developing an intelligent computational instructional environment consisting of: a linguistic expert system, containing a module representing grammar and spelling rules and a number of modules to manipulate these rules; a didactic module; and a student interface with special facilities for grammar and spelling. Three prototypes of the functionality are discussed: BOUWSTEEN and COGO, which are programs for constructing and analyzing Dutch sentences; and TDTDT, a program for the conjugation of Dutch verbs.

Abstract

Language, humans’ most distinctive trait, still remains a ‘mystery’ for evolutionary theory. It is underpinned by a universal infrastructure—cooperative turn-taking—which has been suggested as an ancient mechanism bridging the existing gap between the articulate human species and their inarticulate primate cousins. However, we know remarkably little about turn-taking systems of non-human animals, and methodological confounds have often prevented meaningful cross-species comparisons. Thus, the extent to which cooperative turn-taking is uniquely human or represents a homologous and/or analogous trait is currently unknown. The present paper draws attention to this promising research avenue by providing an overview of the state of the art of turn-taking in four animal taxa—birds, mammals, insects and anurans. It concludes with a new comparative framework to spur more research into this research domain and to test which elements of the human turn-taking system are shared across species and taxa.

Abstract

It has been suggested that external and/or internal limitations paradoxically may lead to superior learning, that is, the concepts of starting small and less is more (Elman, 1993; Newport, 1990). In this paper, we explore the type of incremental ordering during training that might help learning, and what mechanism explains this facilitation. We report four artificial grammar learning experiments with human participants. In Experiments 1a and 1b we found a beneficial effect of starting small using two types of simple recursive grammars: right‐branching and center‐embedding, with recursive embedded clauses in fixed positions and fixed length. This effect was replicated in Experiment 2 (N = 100). In Experiment 3 and 4, we used a more complex center‐embedded grammar with recursive loops in variable positions, producing strings of variable length. When participants were presented an incremental ordering of training stimuli, as in natural language, they were better able to generalize their knowledge of simple units to more complex units when the training input “grew” according to structural complexity, compared to when it “grew” according to string length. Overall, the results suggest that starting small confers an advantage for learning complex center‐embedded structures when the input is organized according to structural complexity.

Abstract

Cognates share their form and meaning across languages: “winter” in English means the same as “winter” in Dutch. Research has shown that bilinguals process cognates more quickly than words that exist in one language only (e.g. “ant” in English). This finding is taken as strong evidence for the claim that bilinguals have one integrated lexicon and that lexical access is language non-selective. Two English lexical decision experiments with Dutch–English bilinguals investigated whether the cognate facilitation effect is influenced by stimulus list composition. In Experiment 1, the ‘standard’ version, which included only cognates, English control words and regular non-words, showed significant cognate facilitation (31 ms). In contrast, the ‘mixed’ version, which also included interlingual homographs, pseudohomophones (instead of regular non-words) and Dutch-only words, showed a significantly different profile: a non-significant disadvantage for the cognates (8 ms). Experiment 2 examined the specific impact of these three additional stimuli types and found that only the inclusion of Dutch words significantly reduced the cognate facilitation effect. Additional exploratory analyses revealed that, when the preceding trial was a Dutch word, cognates were recognised up to 50 ms more slowly than English controls. We suggest that when participants must respond ‘no’ to non-target language words, competition arises between the ‘yes’- and ‘no’-responses associated with the two interpretations of a cognate, which (partially) cancels out the facilitation that is a result of the cognate's shared form and meaning. We conclude that the cognate facilitation effect is a real effect that originates in the lexicon, but that cognates can be subject to competition effects outside the lexicon.

Abstract

Oscillatory activity in the alpha and gamma bands is considered key in shaping functional brain architecture. Power
increases in the high-frequency gamma band are typically reported in parallel to decreases in the low-frequency alpha
band. However, their functional significance and in particular their interactions are not well understood. The present
study shows that, in the context of an N-backworking memory task, alpha power decreases in the dorsal visual stream
are related to gamma power increases in early visual areas. Granger causality analysis revealed directed interregional
interactions from dorsal to ventral stream areas, in accordance with task demands. Present results reveal a robust,
behaviorally relevant, and architectonically decisive power-to-power relationship between alpha and gamma activity.
This relationship suggests that anatomically distant power fluctuations in oscillatory activity can link cerebral network
dynamics on trial-by-trial basis during cognitive operations such as working memory

Abstract

The auditory steady state evoked response (ASSR) is a robust and frequently utilized
phenomenon in psychophysiological research. It reflects the auditory cortical response
to an amplitude-modulated constant carrier frequency signal. The present report
provides a concrete example of a group analysis of the EEG data from 29 healthy human
participants, recorded during an ASSR paradigm, using the FieldTrip toolbox. First, we
demonstrate sensor-level analysis in the time domain, allowing for a description of the
event-related potentials (ERPs), as well as their statistical evaluation. Second, frequency
analysis is applied to describe the spectral characteristics of the ASSR, followed by
group level statistical analysis in the frequency domain. Third, we show how timeand
frequency-domain analysis approaches can be combined in order to describe
the temporal and spectral development of the ASSR. Finally, we demonstrate source
reconstruction techniques to characterize the primary neural generators of the ASSR.
Throughout, we pay special attention to explaining the design of the analysis pipeline
for single subjects and for the group level analysis. The pipeline presented here can be
adjusted to accommodate other experimental paradigms and may serve as a template
for similar analyses.

Abstract

A key challenge for cognitive neuroscience is deciphering the representational schemes of the brain. Stimulus-feature-based encoding models are becoming increasingly popular for inferring the dimensions of neural representational spaces from stimulus-feature spaces. We argue that such inferences are not always valid because successful prediction can occur even if the two representational spaces use different, but correlated, representational schemes. We support this claim with three simulations in which we achieved high prediction accuracy despite systematic differences in the geometries and dimensions of the underlying representations. Detailed analysis of the encoding models' predictions showed systematic deviations from ground-truth, indicating that high prediction accuracy is insufficient for making representational inferences. This fallacy applies to the prediction of actual neural patterns from stimulus-feature spaces and we urge caution in inferring the nature of the neural code from such methods. We discuss ways to overcome these inferential limitations, including model comparison, absolute model performance, visualization techniques and attentional modulation.

Abstract

Background: Recent analyses of trait-disorder overlap suggest that psychiatric dimensions may relate to distinct sets of genes that exert their maximum influence during different periods of development. This includes analyses of social-communciation difficulties that share, depending on their developmental stage, stronger genetic links with either Autism Spectrum Disorder or schizophrenia. Here we developed a multivariate analysis framework in unrelated individuals to model directly the developmental profile of genetic influences contributing to complex traits, such as social-communication difficulties, during a ~10-year period spanning childhood and adolescence. Methods: Longitudinally assessed quantitative social-communication problems (N ≤ 5,551) were studied in participants from a UK birth cohort (ALSPAC, 8 to 17 years). Using standardised measures, genetic architectures were investigated with novel multivariate genetic-relationship-matrix structural equation models (GSEM) incorporating whole-genome genotyping information. Analogous to twin research, GSEM included Cholesky decomposition, common pathway and independent pathway models. Results: A 2-factor Cholesky decomposition model described the data best. One genetic factor was common to SCDC measures across development, the other accounted for independent variation at 11 years and later, consistent with distinct developmental profiles in trait-disorder overlap. Importantly, genetic factors operating at 8 years explained only ~50% of the genetic variation at 17 years. Conclusion: Using latent factor models, we identified developmental changes in the genetic architecture of social-communication difficulties that enhance the understanding of ASD and schizophrenia-related dimensions. More generally, GSEM present a framework for modelling shared genetic aetiologies between phenotypes and can provide prior information with respect to patterns and continuity of trait-disorder overlap

Abstract

Difficulties in social communication are part of the phenotypic overlap between autism spectrum disorders (ASD) and
schizophrenia. Both conditions follow, however, distinct developmental patterns. Symptoms of ASD typically occur during early childhood, whereas most symptoms characteristic of schizophrenia do not appear before early adulthood. We investigated whether overlap in common genetic in fluences between these clinical conditions and impairments in social communication depends on
the developmental stage of the assessed trait. Social communication difficulties were measured in typically-developing youth
(Avon Longitudinal Study of Parents and Children,N⩽5553, longitudinal assessments at 8, 11, 14 and 17 years) using the Social
Communication Disorder Checklist. Data on clinical ASD (PGC-ASD: 5305 cases, 5305 pseudo-controls; iPSYCH-ASD: 7783 cases,
11 359 controls) and schizophrenia (PGC-SCZ2: 34 241 cases, 45 604 controls, 1235 trios) were either obtained through the
Psychiatric Genomics Consortium (PGC) or the Danish iPSYCH project. Overlap in genetic in fluences between ASD and social
communication difficulties during development decreased with age, both in the PGC-ASD and the iPSYCH-ASD sample. Genetic overlap between schizophrenia and social communication difficulties, by contrast, persisted across age, as observed within two independent PGC-SCZ2 subsamples, and showed an increase in magnitude for traits assessed during later adolescence. ASD- and schizophrenia-related polygenic effects were unrelated to each other and changes in trait-disorder links reflect the heterogeneity of
genetic factors in fluencing social communication difficulties during childhood versus later adolescence. Thus, both clinical ASD and schizophrenia share some genetic in fluences with impairments in social communication, but reveal distinct developmental profiles in their genetic links, consistent with the onset of clinical symptoms

Abstract

Co-thought gestures are understudied as compared to co-speech gestures yet, may provide insight into cognitive functions of gestures that are independent of speech processes. A recent study with adults showed that co-thought gesticulation occurred spontaneously during mental preparation of problem solving. Moreover, co-thought gesturing (either spontaneous or instructed) during mental preparation was effective for subsequent solving of the Tower of Hanoi under conditions of high cognitive load (i.e., when visual working memory capacity was limited and when the task was more difficult). In this preregistered study (), we investigated whether co-thought gestures would also spontaneously occur and would aid problem-solving processes in children (N=74; 8-12years old) under high load conditions. Although children also spontaneously used co-thought gestures during mental problem solving, this did not aid their subsequent performance when physically solving the problem. If these null results are on track, co-thought gesture effects may be different in adults and children.

Abstract

We observe a tension in the target article as it stresses an integrated gesture-speech system that can nevertheless consist of contradictory representational states, which are reflected by mismatches in gesture and speech or sign. Beyond problems of coherence, this prevents furthering our understanding of gesture-related learning. As a possible antidote, we invite a more dynamically embodied perspective to the stage.

Abstract

A developmental relationship between symbolic play and language has been long proposed, going as far back as the writings of Piaget and Vygotsky. In the current paper we build on recent qualitative reviews of the literature by reporting the first quantitative analysis of the relationship. We conducted a three-level meta-analysis of past studies that have investigated the relationship between symbolic play and language acquisition. Thirty-five studies (N = 6848) met the criteria for inclusion. Overall, we observed a significant small-to-medium association between the two domains (r = .35). Several moderating variables were included in the analyses, including: (i) study design (longitudinal, concurrent), (ii) the manner in which language was measured (comprehension, production), and (iii) the age at which this relationship is measured. The effect was weakly moderated by these three variables, but overall the association was robust, suggesting that symbolic play and language are closely related in development.

Abstract

Humans devote ample time to produce and perceive music. How and why this behavioral propensity originated in our species is unknown. For centuries, speculation dominated the study of the evolutionary origins of musicality. Following Darwin’s early intuitions, recent empirical research is opening a new chapter to tackle this mystery.

Abstract

This editorial serves a number of purposes. First, it aims at summarizing and discussing 33 accepted contributions to the special issue “The evolution of rhythm cognition: Timing in music and speech.” The major focus of the issue is the cognitive neuroscience of rhythm, intended as a neurobehavioral trait undergoing an evolutionary process. Second, this editorial provides the interested reader with a guide to navigate the interdisciplinary contributions to this special issue. For this purpose, we have compiled Table 1, where methods, topics, and study species are summarized and related across contributions. Third, we also briefly highlight research relevant to the evolution of rhythm that has appeared in other journals while this special issue was compiled. Altogether, this editorial constitutes a summary of rhythm research in music and speech spanning two years, from mid-2015 until mid-2017

Abstract

In their recent article, Sabinsky and colleagues investigated heterogeneity in harbor seals' vocalizations. The authors found seasonal and geographical variation in acoustic parameters, warning readers that recording conditions might account for some of their results. This paper expands on the temporal aspect of the encountered heterogeneity in harbor seals' vocalizations. Temporal information is the least susceptible to variable recording conditions. Hence geographical and seasonal variability in roar timing constitutes the most robust finding in the target article. In pinnipeds, evidence of timing and rhythm in the millisecond range—as opposed to circadian and seasonal rhythms—has theoretical and interdisciplinary relevance. In fact, the study of rhythm and timing in harbor seals is particularly decisive to support or confute a cross-species hypothesis, causally linking the evolution of vocal production learning and rhythm. The results by Sabinsky and colleagues can shed light on current scientific questions beyond pinniped bioacoustics, and help formulate empirically testable predictions.

Abstract

Vocal communication is a crucial aspect of animal behavior. The mechanism which most mammals use to vocalize relies on three anatomical components. First, air overpressure is generated inside the lower vocal tract. Second, as the airstream goes through the glottis, sound is produced via vocal fold vibration. Third, this sound is further filtered by the geometry and length of the upper vocal tract. Evidence from mammalian anatomy and bioacoustics suggests that some of these three components may covary with an animal’s body size. The framework provided by acoustic allometry suggests that, because vocal tract length (VTL) is more strongly constrained by the growth of the body than vocal fold length (VFL), VTL generates more reliable acoustic cues to an animal’s size. This hypothesis is often tested acoustically but rarely anatomically, especially in pinnipeds. Here, we test the anatomical bases of the acoustic allometry hypothesis in harbor seal pups Phoca vitulina. We dissected and measured vocal tract, vocal folds, and other anatomical features of 15 harbor seals post-mortem. We found that, while VTL correlates with body size, VFL does not. This suggests that, while body growth puts anatomical constraints on how vocalizations are filtered by harbor seals’ vocal tract, no such constraints appear to exist on vocal folds, at least during puppyhood. It is particularly interesting to find anatomical constraints on harbor seals’ vocal tracts, the same anatomical region partially enabling pups to produce individually distinctive vocalizations.

Abstract

Research on the evolution of human speech and phonology benefits from the comparative approach: structural, spectral, and temporal features can be extracted and compared across species in an attempt to reconstruct the evolutionary history of human speech. Here we focus on analytical tools to measure and compare temporal structure in human speech and animal vocalizations. We introduce the reader to a range of statistical methods usable, on the one hand, to quantify rhythmic complexity in single vocalizations, and on the other hand, to compare rhythmic structure between multiple vocalizations. These methods include: time series analysis, distributional measures, variability metrics, Fourier transform, auto- and cross-correlation, phase portraits, and circular statistics. Using computer-generated data, we apply a range of techniques, walking the reader through the necessary software and its functions. We describe which techniques are most appropriate to test particular hypotheses on rhythmic structure, and provide possible interpretations of the tests. These techniques can be equally well applied to find rhythmic structure in gesture, movement, and any other behavior developing over time, when the research focus lies on its temporal structure. This introduction to quantitative techniques for rhythm and timing analysis will hopefully spur additional comparative research, and will produce comparable results across all disciplines working on the evolution of speech, ultimately advancing the field.

Abstract

Why does musical rhythm have the structure it does? Musical rhythm, in all its cross-cultural diversity, exhibits
commonalities across world cultures. Traditionally, music research has been split into two fields. Some scientists
focused onmusicality, namely the human biocognitive predispositions formusic, with an emphasis on cross-cultural
similarities. Other scholars investigatedmusic, seen as a cultural product, focusing on the variation in worldmusical
cultures.Recent experiments founddeep connections betweenmusicandmusicality, reconciling theseopposing views.
Here, we address the question of how individual cognitive biases affect the process of cultural evolution of music.
Data from two experiments are analyzed using two complementary techniques. In the experiments, participants
hear drumming patterns and imitate them. These patterns are then given to the same or another participant to
imitate. The structure of these initially random patterns is tracked along experimental “generations.” Frequentist
statistics show how participants’ biases are amplified by cultural transmission, making drumming patterns more
structured. Structure is achieved faster in transmission within rather than between participants. A Bayesian model
approximates the motif structures participants learned and created. Our data and models suggest that individual
biases for musicality may shape the cultural transmission of musical rhythm.

Abstract

Language and music share many commonalities, both as natural phenomena and as subjects of intellectual inquiry. Rather than exhaustively reviewing these connections, we focus on potential cross-pollination of methodological inquiries and attitudes. We highlight areas in which scholarship on the evolution of language may inform the evolution of music. We focus on the value of coupled empirical and formal methodologies, and on the futility of mysterianism, the declining view that the nature, origins and evolution of language cannot be addressed empirically. We identify key areas in which the evolution of language as a discipline has flourished historically, and suggest ways in which these advances can be integrated into the study of the evolution of music.

Abstract

Objectives: Timing and rhythm (i.e. temporal structure) are crucial, though historically neglected, dimensions of animal communication. When investigating these in non-human animals, it is often difficult to balance experimental control and ecological validity. Here I present the first step of an attempt to balance the two, focusing on the timing of vocal rhythms in a harbor seal pup (Phoca vitulina). Collection of this data had a clear aim: To find spontaneous vocal rhythms in this individual in order to design individually-adapted and ecologically-relevant stimuli for a later playback experiment. Data description: The calls of one seal pup were recorded. The audio recordings were annotated using Praat, a free software to analyze vocalizations in humans and other animals. The annotated onsets and offsets of vocalizations were then imported in a Python script. The script extracted three types of timing information: the duration of calls, the intervals between calls’ onsets, and the intervals between calls’ maximum-intensity peaks. Based on the annotated data, available to download, I provide simple descriptive statistics for these temporal measures, and compare their distributions.

Abstract

Isochrony is crucial to the rhythm of human music. Some neural, behavioral and anatomical traits underlying rhythm perception and production are shared with a broad range of species. These may either have a common evolutionary origin, or have evolved into similar traits under different evolutionary pressures. Other traits underlying rhythm are rare across species, only found in humans and few other animals. Isochrony, or stable periodicity, is common to most human music, but isochronous behaviors are also found in many species. It appears paradoxical that humans are particularly good at producing and perceiving isochronous patterns, although this ability does not conceivably confer any evolutionary advantage to modern humans. This article will attempt to solve this conundrum. To this end, we define the concept of isochrony from the present functional perspective of physiology, cognitive neuroscience, signal processing, and interactive behavior, and review available evidence on isochrony in the signals of humans and other animals. We then attempt to resolve the paradox of isochrony by expanding an evolutionary hypothesis about the function that isochronous behavior may have had in early hominids. Finally, we propose avenues for empirical research to examine this hypothesis and to understand the evolutionary origin of isochrony in general.

Abstract

Music is a peculiar human behavior, yet we still know little as to why and how music emerged. For centuries, the study of music has been the sole prerogative of the humanities. Lately, however, music is being increasingly investigated by psychologists, neuroscientists, biologists, and computer scientists. One approach to studying the origins of music is to empirically test hypotheses about the mechanisms behind this structured behavior. Recent lab experiments show how musical rhythm and melody can emerge via the process of cultural transmission. In particular, Lumaca and Baggio (2017) tested the emergence of a sound system at the boundary between music and language. In this study, participants were given random pairs of signal-meanings; when participants negotiated their meaning and played a “ game of telephone ” with them, these pairs became more structured and systematic. Over time, the small biases introduced in each artificial transmission step accumulated, displaying quantitative trends, including the emergence, over the course of artificial human generations, of features resembling properties of language and music. In this Note, we highlight the importance of Lumaca and Baggio ʼ s experiment, place it in the broader literature on the evolution of language and music, and suggest refinements for future experiments. We conclude that, while psychological evidence for the emergence of proto-musical features is accumulating, complementary work is needed: Mathematical modeling and computer simulations should be used to test the internal consistency of experimentally generated hypotheses and to make new predictions.

Abstract

One curious aspect of human timing is the organization of rhythmic patterns in small integer ratios. Behavioral and neural research has shown that adjacent time intervals in rhythms tend to be perceived and reproduced as approximate fractions of small numbers (e.g., 3/2). Recent work on iterated learning and reproduction further supports this: given a randomly timed drum pattern to reproduce, participants subconsciously transform it toward small integer ratios. The mechanisms accounting for this “attractor” phenomenon are little understood, but might be explained by combining two theoretical frameworks from psychophysics. The scalar expectancy theory describes time interval perception and reproduction in terms of Weber's law: just detectable durational differences equal a constant fraction of the reference duration. The notion of categorical perception emphasizes the tendency to perceive time intervals in categories, i.e., “short” vs. “long.” In this piece, we put forward the hypothesis that the integer-ratio bias in rhythm perception and production might arise from the interaction of the scalar property of timing with the categorical perception of time intervals, and that neurally it can plausibly be related to oscillatory activity. We support our integrative approach with mathematical derivations to formalize assumptions and provide testable predictions. We present equations to calculate durational ratios by: (i) parameterizing the relationship between durational categories, (ii) assuming a scalar timing constant, and (iii) specifying one (of K) category of ratios. Our derivations provide the basis for future computational, behavioral, and neurophysiological work to test our model.

Abstract

STRUCTURE IN MUSICAL RHYTHM CAN BE MEASURED using a number of analytical techniques. While some techniques—like circular statistics or grammar induction—rely on strong top-down assumptions, assumption-free techniques can only provide limited insights on higher-order rhythmic structure. I suggest that research in music perception and performance can benefit from systematically adopting phase space plots, a visualization technique originally developed in mathematical physics that overcomes the aforementioned limitations. By jointly plotting adjacent interonset intervals (IOI), the motivic rhythmic structure of musical phrases, if present, is visualized geometrically without making any a priori assumptions concerning isochrony, beat induction, or metrical hierarchies. I provide visual examples and describe how particular features of rhythmic patterns correspond to geometrical shapes in phase space plots. I argue that research on music perception and systematic musicology stands to benefit from this descriptive tool, particularly in comparative analyses of rhythm production. Phase space plots can be employed as an initial assumption-free diagnostic to find higher order structures (i.e., beyond distributional regularities) before proceeding to more specific, theory-driven analyses.

Abstract

Recent work suggests that cultural transmission can lead to the emergence of linguistic structure as speakers’ weak individual biases become amplified through iterated learning. However, to date no published study has demonstrated a similar emergence of linguistic structure in children. The lack of evidence from child learners constitutes a problematic
2
gap in the literature: if such learning biases impact the emergence of linguistic structure, they should also be found in children, who are the primary learners in real-life language transmission. However, children may differ from adults in their biases given age-related differences in general cognitive skills. Moreover, adults’ performance on iterated learning tasks may reflect existing (and explicit) linguistic biases, partially undermining the generality of the results. Examining children’s performance can also help evaluate contrasting predictions about their role in emerging languages: do children play a larger or smaller role than adults in the creation of structure? Here, we report a series of four iterated artificial language learning studies (based on Kirby, Cornish & Smith, 2008) with both children and adults, using a novel child-friendly paradigm. Our results show that linguistic structure does not emerge more readily in children compared to adults, and that adults are overall better in both language learning and in creating linguistic structure. When languages could become underspecified (by allowing homonyms), children and adults were similar in developing consistent mappings between meanings and signals in the form of structured ambiguities. However, when homonimity was not allowed, only adults created compositional structure. This study is a first step in using iterated language learning paradigms to explore child-adult differences. It provides the first demonstration that cultural transmission has a different effect on the languages produced by children and adults: While children were able to develop systematicity, their languages did not show compositionality. We focus on the relation between learning and structure creation as a possible explanation for our findings and discuss implications for children’s role in the emergence of linguistic structure.

Abstract

Infants, children and adults are capable of extracting recurring patterns from their environment through statistical learning (SL), an implicit learning mechanism that is considered to have an important role in language acquisition. Research over the past 20 years has shown that SL is present from very early infancy and found in a variety of tasks and across modalities (e.g., auditory, visual), raising questions on the domain generality of SL. However, while SL is well established for infants and adults, only little is known about its developmental trajectory during childhood, leaving two important questions unanswered: (1) Is SL an early-maturing capacity that is fully developed in infancy, or does it improve with age like other cognitive capacities (e.g., memory)? and (2) Will SL have similar developmental trajectories across modalities? Only few studies have looked at SL across development, with conflicting results: some find age-related improvements while others do not. Importantly, no study to date has examined auditory SL across childhood, nor compared it to visual SL to see if there are modality-based differences in the developmental trajectory of SL abilities. We addressed these issues by conducting a large-scale study of children's performance on matching auditory and visual SL tasks across a wide age range (5–12y). Results show modality-based differences in the development of SL abilities: while children's learning in the visual domain improved with age, learning in the auditory domain did not change in the tested age range. We examine these findings in light of previous studies and discuss their implications for modality-based differences in SL and for the role of auditory SL in language acquisition. A video abstract of this article can be viewed at: https://www.youtube.com/watch?v=3kg35hoF0pw.

Abstract

Language users often infer a person’s gender when it is not explicitly mentioned. This information is included in the mental model of the described situation, giving rise to expectations regarding the continuation of the discourse. Such gender inferences can be based on two types of information: gender stereotypes (e.g., nurses are female) and masculine generics, which are grammatically masculine word forms that are used to refer to all genders in certain contexts (e.g., To each his own). In this eye-tracking experiment (N = 82), which is the first to systematically investigate the online processing of masculine generic pronouns, we tested whether the frequently used Dutch masculine generic zijn ‘his’ leads to a male bias. In addition, we tested the effect of context by introducing male, female, and neutral stereotypes. We found no evidence for the hypothesis that the generically-intended masculine pronoun zijn ‘his’ results in a male bias. However, we found an effect of stereotype context. After introducing a female stereotype, reading about a man led to an increase in processing time. However, the reverse did not hold, which parallels the finding in social psychology that men are penalized more for gender-nonconforming behavior. This suggests that language processing is not only affected by the strength of stereotype contexts; the associated disapproval of violating these gender stereotypes affects language processing, too.

Abstract

According to dual-route models of morphological processing, regular inflected words can be retrieved as whole-word forms or decomposed into morphemes. Baayen, Dijkstra, and Schreuder [(1997). Singulars and plurals in Dutch: Evidence for a parallel dual-route model. Journal of AQ2 Memory and Language, 37, 94–117. doi:10.1006/jmla.1997.2509] proposed a ¶ dual-route model according to which plurals of singular-dominant words (e.g. “brides”) are decomposed, while plurals of plural-dominant words (e.g. “peas”) are accessed as whole-word units. We report two lexical-decision experiments investigating how plural processing is influenced by participants’ age (a proxy for experience with word forms) and morphological complexity of the language (German versus Dutch). For both Dutch participant groups and older German participants, we replicated the interaction between number and dominance reported by Baayen and colleagues. Younger German participants showed a main effect of number, indicating access of all plurals via decomposition. Access to stored forms seems to depend on morphological richness and experience with word forms. The data pattern fits neither full-decomposition nor full-storage models, but is compatible with dual-route models

Abstract

It is unclear whether cognitive and motor control are parallel and interactive or serial and independent processes. According to one view, cognitive control refers to a set of modality-nonspecific processes that act on supramodal representations and precede response modality-specific motor processes. An alternative view is that cognitive control represents a set of modality-specific operations that act directly on motor-related representations, implying dependence of cognitive control on motor control. Here, we examined the influence of response modality (vocal vs. manual) on three well-established subcomponent processes of cognitive control: shifting, inhibiting, and updating. We observed effects of all subcomponent processes in reaction times. The magnitude of these effects did not differ between response modalities for shifting and inhibiting, in line with a serial, supramodal view. However, the magnitude of the updating effect differed between modalities, in line with an interactive, modality-specific view. These results suggest that updating represents a modality-specific operation that depends on motor control, whereas shifting and inhibiting represent supramodal operations that act independently of motor control.

Abstract

This paper outlines a first attempt to model the special constraints that arise in language processing in conversation, and to explore the implications such functional considerations may have on language typology and language change. In particular, we focus on processing pressures imposed by conversational turn-taking and their consequences for the cultural evolution of the structural properties of language. We present an agent-based model of cultural evolution where agents take turns at talk in conversation. When the start of planning for the next turn is constrained by the position of the verb, the stable distribution of dominant word orders across languages evolves to match the actual distribution reasonably well. We suggest that the interface of cognition and interaction should be a more central part of the story of language evolution.

Abstract

Genes including FOXP2, FOXP1 and CNTNAP2, have been implicated in human speech and language phenotypes, pointing to a role in the development of normal language-related circuitry in the brain. Although speech and language are unique human phenotypes, a comparative approach is possible by addressing language-relevant traits in animal model systems. One such trait, vocal learning, represents an essential component of human spoken language, and is shared by cetaceans, pinnipeds, elephants, some birds and bats. Given their vocal learning abilities, gregarious nature, and reliance on vocalisations for social communication and navigation, bats represent an intriguing mammalian system in which to explore language-relevant genes. We used immunohistochemistry to detail the distribution of FoxP2, FoxP1 and Cntnap2 proteins, accompanied by detailed cytoarchitectural histology in the brains of two vocal learning bat species; Phyllostomus discolor and Rousettus aegyptiacus. We show widespread expression of these genes, similar to what has been previously observed in other species, including humans. A striking difference was observed in the adult Phyllostomus discolor bat, which showed low levels of FoxP2 expression in the cortex, contrasting with patterns found in rodents and non-human primates. We created an online, open-access database within which all data can be browsed, searched, and high resolution images viewed to single cell resolution. The data presented herein reveal regions of interest in the bat brain and provide new opportunities to address the role of these language-related genes in complex vocal-motor and vocal learning behaviours in a mammalian model system.

Abstract

Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer’s disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)—control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing. We characterized the ABCA7 coding sequence with next-generation sequencing in 928 EOAD patients and 980 matched control individuals. With MetaSKAT rare variant association analysis, we observed a fivefold enrichment (p = 0.0004) of PTC mutations in EOAD patients (3%) versus controls (0.6%). Ten novel PTC mutations were only observed in patients, and PTC mutation carriers in general had an increased familial AD load. In addition, we observed nominal risk reducing trends for three common coding variants. Seven PTC mutations were further analyzed using targeted long-read cDNA sequencing on an Oxford Nanopore MinION platform. PTC-containing transcripts for each investigated PTC mutation were observed at varying proportion (5–41% of the total read count), implying incomplete nonsense-mediated mRNA decay (NMD). Furthermore, we distinguished and phased several previously unknown alternative splicing events (up to 30% of transcripts). In conjunction with PTC mutations, several of these novel ABCA7 isoforms have the potential to rescue deleterious PTC effects. In conclusion, ABCA7 PTC mutations play a substantial role in EOAD, warranting genetic screening of ABCA7 in genetically unexplained patients. Long-read cDNA sequencing revealed both varying degrees of NMD and transcript-modifying events, which may influence ABCA7 dosage, disease severity, and may create opportunities for therapeutic interventions in AD. © 2017, The Author(s).