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Effectively teaching cultural competence in healthcare education
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| 2 |
Cortical microstructure in primary progressive aphasia: a multicenter study.
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In: Alzheimer's research & therapy, vol 14, iss 1 (2022)
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INGLIZ TILI FANINI BILINGUAL O‘QITISH VA FAKULTATIV DARSLAR UCHUN CASE STUDY METODIDAN FOYDALANISH ...
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An Empirical Study of Factors Affecting Language-Independent Models
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Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome
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Douard, Elise; Zeribi, Abderrahim; Schramm, Catherine; Tamer, Petra; Loum, Mor Absa; Nowak, Sabrina; Saci, Zohra; Lord, Marie-Pier; Rodríguez-Herreros, Borja; Jean-Louis, Martineau; Moreau, Clara; Loth, Eva; Schumann, Gunter; Pausova, Zdenka; Elsabbagh, Mayada; Almasy, Laura; Glahn, David,; Bourgeron, Thomas; Labbe, Aurélie; Paus, Tomas; Mottron, Laurent; Greenwood, Celia,; Huguet, Guillaume; Jacquemont, Sébastien
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In: ISSN: 0002-953X ; EISSN: 1535-7228 ; American Journal of Psychiatry ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371 ; American Journal of Psychiatry, American Psychiatric Publishing, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩ (2021)
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Abstract:
International audience ; Objective:Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. The authors recently developed statistical models to estimate the effect size on IQ of all CNVs, including undocumented ones. In this study, the authors extended this model to autism susceptibility.Methods:The authors identified CNVs in two autism populations (Simons Simplex Collection and MSSNG) and two unselected populations (IMAGEN and Saguenay Youth Study). Statistical models were used to test nine quantitative variables associated with genes encompassed in CNVs to explain their effects on IQ, autism susceptibility, and behavioral domains.Results:The “probability of being loss-of-function intolerant” (pLI) best explains the effect of CNVs on IQ and autism risk. Deleting 1 point of pLI decreases IQ by 2.6 points in autism and unselected populations. The effect of duplications on IQ is threefold smaller. Autism susceptibility increases when deleting or duplicating any point of pLI. This is true for individuals with high or low IQ and after removing de novo and known recurrent neuropsychiatric CNVs. When CNV effects on IQ are accounted for, autism susceptibility remains mostly unchanged for duplications but decreases for deletions. Model estimates for autism risk overlap with previously published observations. Deletions and duplications differentially affect social communication, behavior, and phonological memory, whereas both equally affect motor skills.Conclusions:Autism risk conferred by duplications is less influenced by IQ compared with deletions. The model applied in this study, trained on CNVs encompassing >4,500 genes, suggests highly polygenic properties of gene dosage with respect to autism risk and IQ loss. These models will help to interpret CNVs identified in the clinic.
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Keyword:
[SCCO.NEUR]Cognitive science/Neuroscience; Autism Spectrum Disorder; Copy Number Variants; IQ; MESH: Adolescent; MESH: Adult; MESH: Autistic Disorder; MESH: Case-Control Studies; MESH: Child; MESH: DNA Copy Number Variations; MESH: Female; MESH: Gene Deletion; MESH: Gene Duplication; MESH: Genetic Predisposition to Disease; MESH: Genome; MESH: Humans; MESH: Intelligence; MESH: Male; MESH: Risk Factors
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URL: https://doi.org/10.1176/appi.ajp.2020.19080834
https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371
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| 6 |
High-Stakes Education: Dual Language Immersion in Portland, Oregon
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In: University Honors Theses (2021)
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| 7 |
Sources of Individual Differences in Adults’ ICT Skills: A Large-Scale Empirical Test of a New Guiding Framework
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In: Applied Linguistics Faculty Publications and Presentations (2021)
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Einzelfallorientierung in der Evidenzbasierung der Sprachtherapie* / Case orientation in evidence-based practice of speech language therapy ...
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Einzelfallorientierung in der Evidenzbasierung der Sprachtherapie* / Case orientation in evidence-based practice of speech language therapy ...
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"We, As Parents, Do Have a Voice": Learning From Community-Based Programs Effectively Engaging Parents in Urban Communities
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In: GSE Faculty Publications (2021)
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From policy framework to practice real work : exploring knowledge mobilisation within a complex adaptive system
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Craig, Anne-Marie. - : University of St Andrews, 2021. : The University of St Andrews, 2021
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| 14 |
Self-Translation of Mathematical Texts in Seventeenth-Century France: The Cases of Pascal, Mersenne and Hérigone
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Morris, S. - : University of Exeter, 2021. : Modern Languages, 2021
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| 15 |
A short-term training clinic model for dialectical behavior therapy (DBT) in treating borderline personality disorder (BPD): the case of "Jane"
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The infinite and contradiction: A history of mathematical physics by dialectical approach
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| 17 |
What’s in a thought experiment: the role of gender in Alan Turing’s progressive imitation game
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| 18 |
Secondary school science teachers’ Pedagogical Content Knowledge (PCK) in their classroom practice
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| 19 |
A study on the impact of interpreter intervention in the Maltese Criminal Courts
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| 20 |
BORN OR MADE: PROBLEMS OF PROSE STYLE & STYLISTIC IMPROVABILITY AT THE SENTENCE LEVEL, AN INTERDISCIPLINARY APPROACH
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