Neurophysiological Indices of the Effect of Cognates on Vowel Perception in Late Spanish-English Bilinguals

The field of research in bilingualism and second language (L2) acquisition has yielded overwhelming evidence that acquiring a second language later in life will result in less accurate production and perception of consonants and vowels in the second language. These effects, in part, are a result of interference from the already formed phonetic categories shaped by early exposure to the L1 (Iverson, 2007). Phonetic categories from the L2 will, at least initially, be mapped onto phonetic categories from the L1 (Flege, 1995). Shared storage of similar lexical items from L1 and L2 may also take place resulting in differences in processing for words with similar meanings in both languages with similar meanings. Language learners of any age are able to acquire a limitless number of new vocabulary items in their L2. Whether similarities in orthography and/or phonology of semantically similar words affect access to and comprehension of these new L2 lexical items is still unclear. Another question is whether lexical items that differ only in a non-native sound contrast are processed as good or poor exemplars of the L2 word, as a poor exemplar of the L1 word, or as allophonic variation of the L2 word. In this dissertation neural correlates of L2 words that have or do not have L1 cognates were examined. A group of monolingual English speakers and a group of late Spanish-English bilinguals were asked to decide whether pairs of cognate and non-cognate words were produced the same or differently. Words were pronounced in Standard English or with a change in the production of the stressed vowel in the word to a vowel more similar to a Spanish phoneme. The results revealed that cognate words seemed to facilitate L2 speech discrimination as evidenced by similar responses by bilinguals and monolinguals to these words and smaller or absent responses by bilingual participants to non-cognate words. This facilitation was in the form of a positive ERP response elicited by the frontal electrodes. These results provide a better understanding of why there are mispronunciations and misperceptions of lexical items in an L2 and how shared meaning influences these processes

Graduate Student Retention of Prerequisite Course Content

Although most graduate schools for Speech-Language Pathology require the same core prerequisite classes, there is still variation in class requirements as well as variation in course content. Sixty-one instructors completed a survey regarding what they felt was essential course content from their prerequisite communication sciences and disorders (CSD) classes. This information was used to create a student survey that consisted of 55 multiple choice questions chosen to assess knowledge from eight typically required prerequisite courses. Students preparing to enter their first year of their master’s program were asked to take the survey. Instructors that reported teaching a course in audiology agreed the most on course content. Regarding the student survey, students performed best in the areas of audiology and anatomy and physiology. Students that had a more than two-year gap between undergraduate coursework and their graduate program start date performed significantly worse than those who had a less than two-year gap. The variables of undergraduate major, age, and type of university did not prove significant. Implications for instructors and course content are discussed

Neurophysiological indices of the effect of cognates on vowel perception in late Spanish-English bilinguals

It is well established that acquiring a second language (L2) later in life results in less accurate production and perception of speech sounds in the L2. Languages like Spanish and English have many common words (cognates) and similar sounds, learning how the combination of cognate status and sound similarity can affect processing and lexical access in an L2 is of interest to educators. In the present study, fifteen monolingual English-speakers and 15 late Spanish-English bilinguals were presented with Spanish-English cognates and non-cognates. Event related potentials (ERP) were used to determine whether late L2-learners had more difficulty discriminating mispronunciations of vowels in English words that have Spanish cognates compared to words that do not have cognates. Behavioral results indicated effects of language background differences, but not cognate status, on participants’ ability to discriminate mispronunciations of English vowels, with bilinguals showing poorer discrimination. ERP results revealed that cognate words facilitated L2 phonological processing as evidenced by a larger frontal positive component (P400) ERP effect, similar in amplitude to the P400 from monolinguals. Results suggest that cognate words facilitate not only vocabulary acquisition, but also speech processing, in adult L2 learners, and, thus, may also be useful as a tool for perceptual learning

Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome - wide association studies . Here , we report 83 height - associated coding variants with lower minor allele frequenc ies ( range of 0.1 - 4.8% ) and effects of up to 2 16 cm /allele ( e.g. in IHH , STC2 , AR and CRISPLD2 ) , >10 times the average effect of common variants . In functional follow - up studies, rare height - increasing alleles of STC2 (+1 - 2 cm/allele) compromise d proteolytic inhibition of PAPP - A and increased cleavage of IGFBP - 4 in vitro , resulting in higher bioavailability of insulin - like growth factors . The se 83 height - associated variants overlap genes mutated in monogenic growth disorders and highlight new biological candidates ( e.g. ADAMTS3, IL11RA, NOX4 ) and pathways ( e.g . proteoglycan/ glycosaminoglycan synthesis ) involved in growth . Our results demonstrate that sufficiently large sample sizes can uncover rare and low - frequency variants of moderate to large effect associated with polygenic human phenotypes , and that these variants implicate relevant genes and pathways

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Abstract Background Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Publisher Copyright: © 2022, The Author(s).Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.Peer reviewe

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Funding GMP, PN, and CW are supported by NHLBI R01HL127564. GMP and PN are supported by R01HL142711. AG acknowledge support from the Wellcome Trust (201543/B/16/Z), European Union Seventh Framework Programme FP7/2007–2013 under grant agreement no. HEALTH-F2-2013–601456 (CVGenes@Target) & the TriPartite Immunometabolism Consortium [TrIC]-Novo Nordisk Foundation’s Grant number NNF15CC0018486. JMM is supported by American Diabetes Association Innovative and Clinical Translational Award 1–19-ICTS-068. SR was supported by the Academy of Finland Center of Excellence in Complex Disease Genetics (Grant No 312062), the Finnish Foundation for Cardiovascular Research, the Sigrid Juselius Foundation, and University of Helsinki HiLIFE Fellow and Grand Challenge grants. EW was supported by the Finnish innovation fund Sitra (EW) and Finska Läkaresällskapet. CNS was supported by American Heart Association Postdoctoral Fellowships 15POST24470131 and 17POST33650016. Charles N Rotimi is supported by Z01HG200362. Zhe Wang, Michael H Preuss, and Ruth JF Loos are supported by R01HL142302. NJT is a Wellcome Trust Investigator (202802/Z/16/Z), is the PI of the Avon Longitudinal Study of Parents and Children (MRC & WT 217065/Z/19/Z), is supported by the University of Bristol NIHR Biomedical Research Centre (BRC-1215–2001) and the MRC Integrative Epidemiology Unit (MC_UU_00011), and works within the CRUK Integrative Cancer Epidemiology Programme (C18281/A19169). Ruth E Mitchell is a member of the MRC Integrative Epidemiology Unit at the University of Bristol funded by the MRC (MC_UU_00011/1). Simon Haworth is supported by the UK National Institute for Health Research Academic Clinical Fellowship. Paul S. de Vries was supported by American Heart Association grant number 18CDA34110116. Julia Ramierz acknowledges support by the People Programme of the European Union’s Seventh Framework Programme grant n° 608765 and Marie Sklodowska-Curie grant n° 786833. Maria Sabater-Lleal is supported by a Miguel Servet contract from the ISCIII Spanish Health Institute (CP17/00142) and co-financed by the European Social Fund. Jian Yang is funded by the Westlake Education Foundation. Olga Giannakopoulou has received funding from the British Heart Foundation (BHF) (FS/14/66/3129). CHARGE Consortium cohorts were supported by R01HL105756. Study-specific acknowledgements are available in the Additional file 32: Supplementary Note. The views expressed in this manuscript are those of the authors and do not necessarily represent the views of the National Heart, Lung, and Blood Institute; the National Institutes of Health; or the U.S. Department of Health and Human Services.Peer reviewedPublisher PD

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Funding Information: GMP, PN, and CW are supported by NHLBI R01HL127564. GMP and PN are supported by R01HL142711. AG acknowledge support from the Wellcome Trust (201543/B/16/Z), European Union Seventh Framework Programme FP7/2007–2013 under grant agreement no. HEALTH-F2-2013–601456 (CVGenes@Target) & the TriPartite Immunometabolism Consortium [TrIC]-Novo Nordisk Foundation’s Grant number NNF15CC0018486. JMM is supported by American Diabetes Association Innovative and Clinical Translational Award 1–19-ICTS-068. SR was supported by the Academy of Finland Center of Excellence in Complex Disease Genetics (Grant No 312062), the Finnish Foundation for Cardiovascular Research, the Sigrid Juselius Foundation, and University of Helsinki HiLIFE Fellow and Grand Challenge grants. EW was supported by the Finnish innovation fund Sitra (EW) and Finska Läkaresällskapet. CNS was supported by American Heart Association Postdoctoral Fellowships 15POST24470131 and 17POST33650016. Charles N Rotimi is supported by Z01HG200362. Zhe Wang, Michael H Preuss, and Ruth JF Loos are supported by R01HL142302. NJT is a Wellcome Trust Investigator (202802/Z/16/Z), is the PI of the Avon Longitudinal Study of Parents and Children (MRC & WT 217065/Z/19/Z), is supported by the University of Bristol NIHR Biomedical Research Centre (BRC-1215–2001) and the MRC Integrative Epidemiology Unit (MC_UU_00011), and works within the CRUK Integrative Cancer Epidemiology Programme (C18281/A19169). Ruth E Mitchell is a member of the MRC Integrative Epidemiology Unit at the University of Bristol funded by the MRC (MC_UU_00011/1). Simon Haworth is supported by the UK National Institute for Health Research Academic Clinical Fellowship. Paul S. de Vries was supported by American Heart Association grant number 18CDA34110116. Julia Ramierz acknowledges support by the People Programme of the European Union’s Seventh Framework Programme grant n° 608765 and Marie Sklodowska-Curie grant n° 786833. Maria Sabater-Lleal is supported by a Miguel Servet contract from the ISCIII Spanish Health Institute (CP17/00142) and co-financed by the European Social Fund. Jian Yang is funded by the Westlake Education Foundation. Olga Giannakopoulou has received funding from the British Heart Foundation (BHF) (FS/14/66/3129). CHARGE Consortium cohorts were supported by R01HL105756. Study-specific acknowledgements are available in the Additional file : Supplementary Note. The views expressed in this manuscript are those of the authors and do not necessarily represent the views of the National Heart, Lung, and Blood Institute; the National Institutes of Health; or the U.S. Department of Health and Human Services. Publisher Copyright: © 2022, The Author(s).Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.Peer reviewe

Neurophysiological indices of the effect of cognates on vowel perception in late Spanish-English bilinguals

The field of research in bilingualism and second language (L2) acquisition has yielded overwhelming evidence that acquiring a second language later in life will result in less accurate production and perception of consonants and vowels in the second language. These effects, in part, are a result of interference from the already formed phonetic categories shaped by early exposure to the L1 (Iverson, 2007). Phonetic categories from the L2 will, at least initially, be mapped onto phonetic categories from the L1 (Flege, 1995). Shared storage of similar lexical items from L1 and L2 may also take place resulting in differences in processing for words with similar meanings in both languages with similar meanings. Language learners of any age are able to acquire a limitless number of new vocabulary items in their L2. Whether similarities in orthography and/or phonology of semantically similar words affect access to and comprehension of these new L2 lexical items is still unclear. Another question is whether lexical items that differ only in a non-native sound contrast are processed as good or poor exemplars of the L2 word, as a poor exemplar of the L1 word, or as allophonic variation of the L2 word. In this dissertation neural correlates of L2 words that have or do not have L1 cognates were examined. A group of monolingual English speakers and a group of late Spanish-English bilinguals were asked to decide whether pairs of cognate and non-cognate words were produced the same or differently. Words were pronounced in Standard English or with a change in the production of the stressed vowel in the word to a vowel more similar to a Spanish phoneme. The results revealed that cognate words seemed to facilitate L2 speech discrimination as evidenced by similar responses by bilinguals and monolinguals to these words and smaller or absent responses by bilingual participants to non-cognate words. This facilitation was in the form of a positive ERP response elicited by the frontal electrodes. These results provide a better understanding of why there are mispronunciations and misperceptions of lexical items in an L2 and how shared meaning influences these processes

Maintenance of the Heritage Language: Examination of its Effects on Psychological Status, Family Relations, and Language Development in Children and Adolescents.

The purpose of this article is to review the literature on maintenance of the heritage language (HL) and its multiple benefits across academic, linguistic, and psychological outcomes. We hope to reduce the fears of immigrant parents regarding use of their native language in the home and inform professionals across disciplines such as speech-language pathology, education, and psychology of the tremendous benefits of HL maintenance. Use of the HL is often abandoned after children begin formal schooling due to peer pressure, biases against minority languages, or parental fears that exposure to two languages is somehow harmful or confusing. The overriding argument in this review is that use of the HL benefits individuals and families as a whole, which in turn assists in a child’s overall success both in and out of academic settings. Speech-language, education, and psychology based professionals should promote parent and child use of the HL, as well as incorporate it into therapy/teaching/counseling when appropriate. In addition, the authors will provide a theoretical framework for facilitation of maintenance of the heritage language and provide suggestions for parents