Language as a framework for addressing low-prevalence chromosomopathies

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https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.22

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No. 2: Monográfico
Papers
354-372
Published: 03-09-2020
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Europe PMC

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Abstract

Chromosomopathies are genetic anomalies that are generally related to the composition or order of genes within chromosomes. Nowadays, the knowledge about such deficiencies, concerning those disorders of higher prevalence and their phenotypic manifestations is quite extensive, thanks to years of working on standardized protocols for early diagnosis and psychological intervention and speech therapy. That is not the case with those chromosomal alterations of lower prevalence, although they also entail significant cognitive and linguistic deficiencies. This fact supposes a great stumbling block for the effective and coordinated action between specialists in the treatments directed at increasing the communicative and linguistic competences of this population. The interpretation of language not only as an instrument of social communication, but also as a system of individual representation in which the main mechanisms of cognition are projected justifies an approach to all these questions taking language as an essential axis.

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clinical linguistics Google Schoolar
low prevalence chromosomopathies Google Schoolar
language development Google Schoolar
language processing Google Schoolar
language assessment Google Schoolar

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Varo Varo, C. (2020). Language as a framework for addressing low-prevalence chromosomopathies. Pragmalingüística, (2), 354–372. https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.22

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