Enactivism and ethnomethodological conversation analysis as tools for expanding Universal Design for Learning: the case of visually impaired mathematics students

Blind and visually impaired mathematics students must rely on accessible materials such as tactile diagrams to learn mathematics. However, these compensatory materials are frequently found to offer students inferior opportunities for engaging in mathematical practice and do not allow sensorily heterogenous students to collaborate. Such prevailing problems of access and interaction are central concerns of Universal Design for Learning (UDL), an engineering paradigm for inclusive participation in cultural praxis like mathematics. Rather than directly adapt existing artifacts for broader usage, UDL process begins by interrogating the praxis these artifacts serve and then radically re-imagining tools and ecologies to optimize usability for all learners. We argue for the utility of two additional frameworks to enhance UDL efforts: (a) enactivism, a cognitive-sciences view of learning, knowing, and reasoning as modal activity; and (b) ethnomethodological conversation analysis (EMCA), which investigates participants’ multimodal methods for coordinating action and meaning. Combined, these approaches help frame the design and evaluation of opportunities for heterogeneous students to learn mathematics collaboratively in inclusive classrooms by coordinating perceptuo-motor solutions to joint manipulation problems. We contextualize the thesis with a proposal for a pluralist design for proportions, in which a pair of students jointly operate an interactive technological device

Development of linguistic linked open data resources for collaborative data-intensive research in the language sciences

Making diverse data in linguistics and the language sciences open, distributed, and accessible: perspectives from language/language acquistiion researchers and technical LOD (linked open data) researchers. This volume examines the challenges inherent in making diverse data in linguistics and the language sciences open, distributed, integrated, and accessible, thus fostering wide data sharing and collaboration. It is unique in integrating the perspectives of language researchers and technical LOD (linked open data) researchers. Reporting on both active research needs in the field of language acquisition and technical advances in the development of data interoperability, the book demonstrates the advantages of an international infrastructure for scholarship in the field of language sciences. With contributions by researchers who produce complex data content and scholars involved in both the technology and the conceptual foundations of LLOD (linguistics linked open data), the book focuses on the area of language acquisition because it involves complex and diverse data sets, cross-linguistic analyses, and urgent collaborative research. The contributors discuss a variety of research methods, resources, and infrastructures. Contributors Isabelle Barrière, Nan Bernstein Ratner, Steven Bird, Maria Blume, Ted Caldwell, Christian Chiarcos, Cristina Dye, Suzanne Flynn, Claire Foley, Nancy Ide, Carissa Kang, D. Terence Langendoen, Barbara Lust, Brian MacWhinney, Jonathan Masci, Steven Moran, Antonio Pareja-Lora, Jim Reidy, Oya Y. Rieger, Gary F. Simons, Thorsten Trippel, Kara Warburton, Sue Ellen Wright, Claus Zin

NOVEL HOMOZYGOUS VARIANT OF TBC1 DOMAIN FAMILY MEMBER 8 GENE IN FOUR LIBYAN SIBLINGS WITH AUTISTIC SPECTRUM DISORDER AND INTELLECTUAL DISABILITY WITHOUT EPILEPSY

Objective: Recent progress in genetic analysis and investigations have enabled researchers to identify potential genetic changes that may play a role in ASD. The number of genes connected with autism is growing. Whole exome sequencing(WES) identified the homozygous TBC1D8 variant. Aim to report for the first time a TBC1D8 missense variant (c.1883G>A, p. (Arg628Gln) in 4 Libyan children (3 homozygous,1 heterozygous) with severe neurodevelopmental phenotypes ASD and intellectual disability ID . Based on the data of HGMD and ClinVar, variants in only a few autosomal recessive intellectual disability ARID genes seem to be reported frequently. Method: Molecular genetic analysis of (WES) was carried out on blood samples from these children. The outcome of the genetic investigations was interpreted within the context of clinical finding, family history, and suspected mode of inheritance. Results: The number of genes associated with autism is increasing. WES identified the TBC1D8 variant. According to the longest isoform (NM_001102426.1),the nomenclature of this variant is c.1883G>A, p. (Arg628Gln) in TBC1D8 which leads to an amino acid exchange. This variant has not previously reported or described in the literature (PubMed, HGMD). Conclusion: we have provided evidence for a connection between TBC1D8 variant and ASD and ID; however, this evidence should be considered preliminary in the context of a single case report and such findings need to be replicated to gain insight in order to determine if ASD and ID are a characteristic of this variant

Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014

The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the oral presentations during the conference, and contains some of the major notable new findings reported

Development of Linguistic Linked Open Data Resources for Collaborative Data-Intensive Research in the Language Sciences

This book is the product of an international workshop dedicated to addressing data accessibility in the linguistics field. It is therefore vital to the book’s mission that its content be open access. Linguistics as a field remains behind many others as far as data management and accessibility strategies. The problem is particularly acute in the subfield of language acquisition, where international linguistic sound files are needed for reference. Linguists' concerns are very much tied to amount of information accumulated by individual researchers over the years that remains fragmented and inaccessible to the larger community. These concerns are shared by other fields, but linguistics to date has seen few efforts at addressing them. This collection, undertaken by a range of leading experts in the field, represents a big step forward. Its international scope and interdisciplinary combination of scholars/librarians/data consultants will provide an important contribution to the field

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their phenotypic characteristics in an ethnically underrepresented homogenous population of Bangladesh. Methods: We have conducted chromosomal microarray analysis (CMA) for 212 NDD patients with male to female ratio of 2.2:1.0 to identify rare CNVs. To identify candidate genes within the rare CNVs, gene constraint metrics [i.e., “Critical-Exon Genes (CEGs)”] were applied to the population data. Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) was followed in a subset of 95 NDD patients to assess the severity of autism and all statistical tests were performed using the R package. Results: Of all the samples assayed, 12.26% (26/212) and 57.08% (121/212) patients carried pathogenic and variant of uncertain significance (VOUS) CNVs, respectively. While 2.83% (6/212) patients’ pathogenic CNVs were found to be located in the subtelomeric regions. Further burden test identified females are significant carriers of pathogenic CNVs compared to males (OR = 4.2; p = 0.0007). We have observed an increased number of Loss of heterozygosity (LOH) within cases with 23.85% (26/109) consanguineous parents. Our analyses on imprinting genes show, 36 LOH variants disrupting 69 unique imprinted genes and classified these variants as VOUS. ADOS-2 subset shows severe social communication deficit (p = 0.014) and overall ASD symptoms severity (p = 0.026) among the patients carrying duplication CNV compared to the CNV negative group. Candidate gene analysis identified 153 unique CEGs in pathogenic CNVs and 31 in VOUS. Of the unique genes, 18 genes were found to be in smaller (<1 MB) focal CNVs in our NDD cohort and we identified PSMC3 gene as a strong candidate gene for Autism Spectrum Disorder (ASD). Moreover, we hypothesized that KMT2B gene duplication might be associated with intellectual disability. Conclusion: Our results show the utility of CMA for precise genetic diagnosis and its integration into the diagnosis, therapy and management of NDD patients