Toward an Interdisciplinary Approach to Constructing Care Delivery Pathways From Electronic Health Care Databases to Support Integrated Care in Chronic Conditions: Systematic Review of Quantification and Visualization Methods.

BACKGROUND: Electronic health care databases are increasingly used for informing clinical decision-making. In long-term care, linking and accessing information on health care delivered by different providers could improve coordination and health outcomes. Several methods for quantifying and visualizing this information into data-driven care delivery pathways (CDPs) have been proposed. To be integrated effectively and sustainably into routine care, these methods need to meet a range of prerequisites covering 3 broad domains: clinical, technological, and behavioral. Although advances have been made, development to date lacks a comprehensive interdisciplinary approach. As the field expands, it would benefit from developing common standards of development and reporting that integrate clinical, technological, and behavioral aspects. OBJECTIVE: We aimed to describe the content and development of long-term CDP quantification and visualization methods and to propose recommendations for future work. METHODS: We conducted a systematic review following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) recommendations. We searched peer-reviewed publications in English and reported the CDP methods by using the following data in the included studies: long-term care data and extracted data on clinical information and aims, technological development and characteristics, and user behaviors. The data are summarized in tables and presented narratively. RESULTS: Of the 2921 records identified, 14 studies were included, of which 13 (93%) were descriptive reports and 1 (7%) was a validation study. Clinical aims focused primarily on treatment decision-making (n=6, 43%) and care coordination (n=7, 50%). Technological development followed a similar process from scope definition to tool validation, with various levels of detail in reporting. User behaviors (n=3, 21%) referred to accessing CDPs, planning care, adjusting treatment, or supporting adherence. CONCLUSIONS: The use of electronic health care databases for quantifying and visualizing CDPs in long-term care is an emerging field. Detailed and standardized reporting of clinical and technological aspects is needed. Early consideration of how CDPs would be used, validated, and implemented in clinical practice would likely facilitate further development and adoption. TRIAL REGISTRATION: PROSPERO CRD42019140494; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=140494. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.1136/bmjopen-2019-033573.

The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins.

While language is expressed in multiple modalities, including sign, writing, or whistles, speech is arguably the most common. The human vocal tract is capable of producing the bewildering diversity of the 7000 or so currently spoken languages, but relatively little is known about its genetic bases, especially in what concerns normal variation. Here, we capitalize on five cohorts totaling 632 Dutch twins with structural magnetic resonance imaging (MRI) data. Two raters placed clearly defined (semi)landmarks on each MRI scan, from which we derived 146 measures capturing the dimensions and shape of various vocal tract structures, but also aspects of the head and face. We used Genetic Covariance Structure Modeling to estimate the additive genetic, common environmental or non-additive genetic, and unique environmental components, while controlling for various confounds and for any systematic differences between the two raters. We found high heritability, h2, for aspects of the skull and face, the mandible, the anteroposterior (horizontal) dimension of the vocal tract, and the position of the hyoid bone. These findings extend the existing literature, and open new perspectives for understanding the complex interplay between genetics, environment, and culture that shape our vocal tracts, and which may help explain cross-linguistic differences in phonetics and phonology.

Identifying the Russian voiceless non-palatalized fricatives /f/, /s/, and /ʃ/ from acoustic cues using machine learning.

This paper shows that machine learning techniques are very successful at classifying the Russian voiceless non-palatalized fricatives [f], [s], and [ʃ] using a small set of acoustic cues. From a data sample of 6320 tokens of read sentences produced by 40 participants, temporal and spectral measurements are extracted from the full sound, the noise duration, and the middle 30 ms windows. Furthermore, 13 mel-frequency cepstral coefficients (MFCCs) are computed from the middle 30 ms window. Classifiers based on single decision trees, random forests, support vector machines, and neural networks are trained and tested to distinguish between these three fricatives. The results demonstrate that, first, the three acoustic cue extraction techniques are similar in terms of classification accuracy (93% and 99%) but that the spectral measurements extracted from the full frication noise duration result in slightly better accuracy. Second, the center of gravity and the spectral spread are sufficient for the classification of [f], [s], and [ʃ] irrespective of contextual and speaker variation. Third, MFCCs show a marginally higher predictive power over spectral cues (<2%). This suggests that both sets of measures provide sufficient information for the classification of these fricatives and their choice depends on the particular research question or application.

Repetition Suppression in the Left Inferior Frontal Gyrus Predicts Tone Learning Performance.

Do individuals differ in how efficiently they process non-native sounds? To what extent do these differences relate to individual variability in sound-learning aptitude? We addressed these questions by assessing the sound-learning abilities of Dutch native speakers as they were trained on non-native tone contrasts. We used fMRI repetition suppression to the non-native tones to measure participants' neuronal processing efficiency before and after training. Although all participants improved in tone identification with training, there was large individual variability in learning performance. A repetition suppression effect to tone was found in the bilateral inferior frontal gyri (IFGs) before training. No whole-brain effect was found after training; a region-of-interest analysis, however, showed that, after training, repetition suppression to tone in the left IFG correlated positively with learning. That is, individuals who were better in learning the non-native tones showed larger repetition suppression in this area. Crucially, this was true even before training. These findings add to existing evidence that the left IFG plays an important role in sound learning and indicate that individual differences in learning aptitude stem from differences in the neuronal efficiency with which non-native sounds are processed.

How Network Structure Shapes Languages: Disentangling the Factors Driving Variation in Communicative Agents.

Languages show substantial variability between their speakers, but it is currently unclear how the structure of the communicative network contributes to the patterning of this variability. While previous studies have highlighted the role of network structure in language change, the specific aspects of network structure that shape language variability remain largely unknown. To address this gap, we developed a Bayesian agent-based model of language evolution, contrasting between two distinct scenarios: language change and language emergence. By isolating the relative effects of specific global network metrics across thousands of simulations, we show that global characteristics of network structure play a critical role in shaping interindividual variation in language, while intraindividual variation is relatively unaffected. We effectively challenge the long-held belief that size and density are the main network structural factors influencing language variation, and show that path length and clustering coefficient are the main factors driving interindividual variation. In particular, we show that variation is more likely to occur in populations where individuals are not well-connected to each other. Additionally, variation is more likely to emerge in populations that are structured in small communities. Our study provides potentially important insights into the theoretical mechanisms underlying language variation.

Ultraviolet light affects the color vocabulary: evidence from 834 languages.

It has been suggested that people living in regions with a high incidence of ultraviolet light, particularly in the B band (UV-B), suffer a phototoxic effect during their lifetime. This effect, known as lens brunescence, negatively impacts the perception of visible light in the "blue" part of the spectrum, which, in turn, reduces the probability that the lexicon of languages spoken in such regions contains a word specifically denoting "blue." This hypothesis has been recently tested using a database of 142 unique populations/languages using advanced statistical methods, finding strong support. Here, this database is extended to 834 unique populations/languages in many more language families (155 vs. 32) and with a much better geographical spread, ensuring a much better representativity of the present-day linguistic diversity. Applying similar statistical methods, supplemented with novel piecewise and latent variable Structural Equation Models and phylogenetic methods made possible by the much denser sampling of large language families, found strong support for the original hypothesis, namely that there is a negative linear effect of UV-B incidence on the probability that a language has a specific word for "blue." Such extensions are essential steps in the scientific process and, in this particular case, help increase our confidence in the proposal that the environment (here, UV-B incidence) affects language (here, the color lexicon) through its individual-level physiological effects (lifetime exposure and lens brunescence) amplified by the repeated use and transmission of language across generations.

Sequence variants affecting voice pitch in humans.

The genetic basis of the human vocal system is largely unknown, as are the sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity in the sequence of the genome with voice and vowel acoustics in speech recordings from 12,901 Icelanders. We show how voice pitch and vowel acoustics vary across the life span and correlate with anthropometric, physiological, and cognitive traits. We found that voice pitch and vowel acoustics have a heritable component and discovered correlated common variants in ABCC9 that associate with voice pitch. The ABCC9 variants also associate with adrenal gene expression and cardiovascular traits. By showing that voice and vowel acoustics are influenced by genetics, we have taken important steps toward understanding the genetics and evolution of the human vocal system.

The bouba/kiki effect is robust across cultures and writing systems.

The bouba/kiki effect-the association of the nonce word bouba with a round shape and kiki with a spiky shape-is a type of correspondence between speech sounds and visual properties with potentially deep implications for the evolution of spoken language. However, there is debate over the robustness of the effect across cultures and the influence of orthography. We report an online experiment that tested the bouba/kiki effect across speakers of 25 languages representing nine language families and 10 writing systems. Overall, we found strong evidence for the effect across languages, with bouba eliciting more congruent responses than kiki. Participants who spoke languages with Roman scripts were only marginally more likely to show the effect, and analysis of the orthographic shape of the words in different scripts showed that the effect was no stronger for scripts that use rounder forms for bouba and spikier forms for kiki. These results confirm that the bouba/kiki phenomenon is rooted in crossmodal correspondence between aspects of the voice and visual shape, largely independent of orthography. They provide the strongest demonstration to date that the bouba/kiki effect is robust across cultures and writing systems. This article is part of the theme issue 'Voice modulation: from origin and mechanism to social impact (Part II)'.

A Bayesian phylogenetic approach to estimating the stability of linguistic features and the genetic biasing of tone.

Language is a hallmark of our species and understanding linguistic diversity is an area of major interest. Genetic factors influencing the cultural transmission of language provide a powerful and elegant explanation for aspects of the present day linguistic diversity and a window into the emergence and evolution of language. In particular, it has recently been proposed that linguistic tone-the usage of voice pitch to convey lexical and grammatical meaning-is biased by two genes involved in brain growth and development, ASPM and Microcephalin. This hypothesis predicts that tone is a stable characteristic of language because of its 'genetic anchoring'. The present paper tests this prediction using a Bayesian phylogenetic framework applied to a large set of linguistic features and language families, using multiple software implementations, data codings, stability estimations, linguistic classifications and outgroup choices. The results of these different methods and datasets show a large agreement, suggesting that this approach produces reliable estimates of the stability of linguistic data. Moreover, linguistic tone is found to be stable across methods and datasets, providing suggestive support for the hypothesis of genetic influences on its distribution.

Are languages really independent from genes? If not, what would a genetic bias affecting language diversity look like?

It is generally accepted that the relationship between human genes and language is very complex and multifaceted. This has its roots in the "regular" complexity governing the interplay among genes and between genes and environment for most phenotypes, but with the added layer of supraontogenetic and supra-individual processes defining culture. At the coarsest level, focusing on the species, it is clear that human-specific--but not necessarily faculty-specific--genetic factors subtend our capacity for language and a currently very productive research program is aiming at uncovering them. At the other end of the spectrum, it is uncontroversial that individual-level variations in different aspects related to speech and language have an important genetic component and their discovery and detailed characterization have already started to revolutionize the way we think about human nature. However, at the intermediate, glossogenetic/population level, the relationship becomes controversial, partly due to deeply ingrained beliefs about language acquisition and universality and partly because of confusions with a different type of gene-languages correlation due to shared history. Nevertheless, conceptual, mathematical and computational models--and, recently, experimental evidence from artificial languages and songbirds--have repeatedly shown that genetic biases affecting the acquisition or processing of aspects of language and speech can be amplified by population-level intergenerational cultural processes and made manifest either as fixed "universal" properties of language or as structured linguistic diversity. Here, I review several such models as well as the recently proposed case of a causal relationship between the distribution of tone languages and two genes related to brain growth and development, ASPM and Microcephalin, and I discuss the relevance of such genetic biasing for language evolution, change, and diversity.

Tone and genes: New cross-linguistic data and methods support the weak negative effect of the "derived" allele of ASPM on tone, but not of Microcephalin.

While it is generally accepted that language and speech have genetic foundations, and that the widespread inter-individual variation observed in many of their aspects is partly driven by variation in genes, it is much less clear if differences between languages may also be partly rooted in our genes. One such proposal is that the population frequencies of the so-called "derived" alleles of two genes involved in brain growth and development, ASPM and Microcephalin, are related to the probability of speaking a tone language or not. The original study introducing this proposal used a cross-linguistic statistical approach, showing that these associations are "special" when compared with many other possible relationships between genetic variants and linguistic features. Recent experimental evidence supports strongly a negative effect of the "derived" allele of ASPM on tone perception and/or processing within individuals, but failed to find any effect for Microcephalin. Motivated by these experimental findings, I conduct here a cross-linguistic statistical test, using a larger and updated dataset of 175 samples from 129 unique (meta)populations, and a battery of methods including mixed-effects regression (Bayesian and maximum-likelihood), mediation and path analysis, decision trees and random forests, using permutations and restricted sampling to control for the confounding effects of genealogy (language families) and contact (macroareas). Overall, the results support a negative weak effect of ASPM-D against the presence of tone above and beyond the strong confounding influences of genealogy and contact, but they suggest that the original association between tone and MCPH1 might have been a false positive, explained by differences between populations and languages within and outside Africa. Thus, these cross-linguistic population-scale statistical results are fully consonant with the inter-individual-level experimental results, and suggest that the observed linguistic diversity may be, at least in some cases, partly driven by genetic diversity.

Environment and culture shape both the colour lexicon and the genetics of colour perception.

Many languages express 'blue' and 'green' under an umbrella term 'grue'. To explain this variation, it has been suggested that changes in eye physiology, due to UV-light incidence, can lead to abnormalities in blue-green color perception which causes the color lexicon to adapt. Here, we apply advanced statistics on a set of 142 populations to model how different factors shape the presence of a specific term for blue. In addition, we examined if the ontogenetic effect of UV-light on color perception generates a negative selection pressure against inherited abnormal red-green perception. We found the presence of a specific term for blue was influenced by UV incidence as well as several additional factors, including cultural complexity. Moreover, there was evidence that UV incidence was negatively related to abnormal red-green color perception. These results demonstrate that variation in languages can only be understood in the context of their cultural, biological, and physical environments.

Interindividual Variation Refuses to Go Away: A Bayesian Computer Model of Language Change in Communicative Networks.

Treating the speech communities as homogeneous entities is not an accurate representation of reality, as it misses some of the complexities of linguistic interactions. Inter-individual variation and multiple types of biases are ubiquitous in speech communities, regardless of their size. This variation is often neglected due to the assumption that "majority rules," and that the emerging language of the community will override any such biases by forcing the individuals to overcome their own biases, or risk having their use of language being treated as "idiosyncratic" or outright "pathological." In this paper, we use computer simulations of Bayesian linguistic agents embedded in communicative networks to investigate how biased individuals, representing a minority of the population, interact with the unbiased majority, how a shared language emerges, and the dynamics of these biases across time. We tested different network sizes (from very small to very large) and types (random, scale-free, and small-world), along with different strengths and types of bias (modeled through the Bayesian prior distribution of the agents and the mechanism used for generating utterances: either sampling from the posterior distribution ["sampler"] or picking the value with the maximum probability ["MAP"]). The results show that, while the biased agents, even when being in the minority, do adapt their language by going against their a priori preferences, they are far from being swamped by the majority, and instead the emergent shared language of the whole community is influenced by their bias.

The vocal tract as a time machine: inferences about past speech and language from the anatomy of the speech organs.

While speech and language do not fossilize, they still leave traces that can be extracted and interpreted. Here, we suggest that the shape of the hard structures of the vocal tract may also allow inferences about the speech of long-gone humans. These build on recent experimental and modelling studies, showing that there is extensive variation between individuals in the precise shape of the vocal tract, and that this variation affects speech and language. In particular, we show that detailed anatomical information concerning two components of the vocal tract (the lower jaw and the hard palate) can be extracted and digitized from the osteological remains of three historical populations from The Netherlands, and can be used to conduct three-dimensional biomechanical simulations of vowel production. We could recover the signatures of inter-individual variation between these vowels, in acoustics and articulation. While 'proof-of-concept', this study suggests that older and less well-preserved remains could be used to draw inferences about historic and prehistoric languages. Moreover, it forces us to clarify the meaning and use of the uniformitarian principle in linguistics, and to consider the wider context of language use, including the anatomy, physiology and cognition of the speakers. This article is part of the theme issue 'Reconstructing prehistoric languages'.

Novel vocalizations are understood across cultures.

Linguistic communication requires speakers to mutually agree on the meanings of words, but how does such a system first get off the ground? One solution is to rely on iconic gestures: visual signs whose form directly resembles or otherwise cues their meaning without any previously established correspondence. However, it is debated whether vocalizations could have played a similar role. We report the first extensive cross-cultural study investigating whether people from diverse linguistic backgrounds can understand novel vocalizations for a range of meanings. In two comprehension experiments, we tested whether vocalizations produced by English speakers could be understood by listeners from 28 languages from 12 language families. Listeners from each language were more accurate than chance at guessing the intended referent of the vocalizations for each of the meanings tested. Our findings challenge the often-cited idea that vocalizations have limited potential for iconic representation, demonstrating that in the absence of words people can use vocalizations to communicate a variety of meanings.

Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin.

The correlations between interpopulation genetic and linguistic diversities are mostly noncausal (spurious), being due to historical processes and geographical factors that shape them in similar ways. Studies of such correlations usually consider allele frequencies and linguistic groupings (dialects, languages, linguistic families or phyla), sometimes controlling for geographic, topographic, or ecological factors. Here, we consider the relation between allele frequencies and linguistic typological features. Specifically, we focus on the derived haplogroups of the brain growth and development-related genes ASPM and Microcephalin, which show signs of natural selection and a marked geographic structure, and on linguistic tone, the use of voice pitch to convey lexical or grammatical distinctions. We hypothesize that there is a relationship between the population frequency of these two alleles and the presence of linguistic tone and test this hypothesis relative to a large database (983 alleles and 26 linguistic features in 49 populations), showing that it is not due to the usual explanatory factors represented by geography and history. The relationship between genetic and linguistic diversity in this case may be causal: certain alleles can bias language acquisition or processing and thereby influence the trajectory of language change through iterated cultural transmission.

Foraging postures are a potential communicative signal in female bonobos.

Body postures are essential in animal behavioural repertoires and their communicative role has been assessed in a wide array of taxa and contexts. Some body postures function as amplifiers, a class of signals that increase the detection likelihood of other signals. While foraging on the ground, bonobos (Pan paniscus) can adopt different crouching postures exposing more or less of their genital area. To our knowledge, their potential functional role in the sociosexual life of bonobos has not been assessed yet. Here we show, by analysing more than 2,400 foraging events in 21 captive bonobos, that mature females adopt a rear-exposing posture (forelimb-crouch) and do so significantly more often when their anogenital region is swollen than during the non-swollen phase. In contrast, mature males almost completely avoid this posture. Moreover, this strong difference results from a diverging ontogeny between males and females since immature males and females adopt the forelimb-crouch at similar frequencies. Our findings suggest that the forelimb-crouch posture may play a communicative role of amplification by enhancing the visibility of female sexual swellings, a conspicuous signal that is very attractive for both males and females. Given the high social relevance of this sexual signal, our study emphasizes that postural signalling in primates probably deserves more attention, even outside of reproductive contexts.

Quantification and visualisation methods of data-driven chronic care delivery pathways: protocol for a systematic review and content analysis.

INTRODUCTION: Chronic conditions require long periods of care and often involve repeated interactions with multiple healthcare providers. Faced with increasing illness burden and costs, healthcare systems are currently working towards integrated care to streamline these interactions and improve efficiency. To support this, one promising resource is the information on routine care delivery stored in various electronic healthcare databases (EHD). In chronic conditions, care delivery pathways (CDPs) can be constructed by linking multiple data sources and extracting time-stamped healthcare utilisation events and other medical data related to individual or groups of patients over specific time periods; CDPs may provide insights into current practice and ways of improving it. Several methods have been proposed in recent years to quantify and visualise CDPs. We present the protocol for a systematic review aiming to describe the content and development of CDP methods, to derive common recommendations for CDP construction. METHODS AND ANALYSIS: This protocol followed the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols. A literature search will be performed in PubMed (MEDLINE), Scopus, IEEE, CINAHL and EMBASE, without date restrictions, to review published papers reporting data-driven chronic CDPs quantification and visualisation methods. We will describe them using several characteristics relevant for EHD use in long-term care, grouped into three domains: (1) clinical (what clinical information does the method use and how was it considered relevant?), (2) data science (what are the method's development and implementation characteristics?) and (3) behavioural (which behaviours and interactions does the method aim to promote among users and how?). Data extraction will be performed via deductive content analysis using previously defined characteristics and accompanied by an inductive analysis to identify and code additional relevant features. Results will be presented in descriptive format and used to compare current CDPs and generate recommendations for future CDP development initiatives. ETHICS AND DISSEMINATION: Database searches will be initiated in May 2019. The review is expected to be completed by February 2020. Ethical approval is not required for this review. Results will be disseminated in peer-reviewed journals and conference presentations. PROSPERO REGISTRATION NUMBER: CRD42019140494.

Genetic biasing through cultural transmission: do simple Bayesian models of language evolution generalize?

The recent Bayesian approaches to language evolution and change seem to suggest that genetic biases can impact on the characteristics of language, but, at the same time, that its cultural transmission can partially free it from these same genetic constraints. One of the current debates centres on the striking differences between sampling and a posteriori maximising Bayesian learners, with the first converging on the prior bias while the latter allows a certain freedom to language evolution. The present paper shows that this difference disappears if populations more complex than a single teacher and a single learner are considered, with the resulting behaviours more similar to the sampler. This suggests that generalisations based on the language produced by Bayesian agents in such homogeneous single agent chains are not warranted. It is not clear which of the assumptions in such models are responsible, but these findings seem to support the rising concerns on the validity of the "acquisitionist" assumption, whereby the locus of language change and evolution is taken to be the first language acquirers (children) as opposed to the competent language users (the adults).

AdhereR: An Open Science Approach to Estimating Adherence to Medications Using Electronic Healthcare Databases.

Adherence to medications is a key performance indicator and behavioral outcome in healthcare. Electronic healthcare databases represent rich data sources for estimating adherence in both research and practice. To build a solid evidence base for adherence management across clinical settings, it is necessary to standardize adherence estimation and facilitate its appropriate use. We present the recent development and oportunities offered by AdhereR, an R package for visualisation of medication histories and computation of adherence.