What is it about?

Studies of language difficulties in populations with rare genetic disorders are limited, thus effective intervention is often lacking. We investigated linguistic and cognitive characteristics in children with low prevalence genetic disorders, medical, family and psychoeducational information was collected and standardized tests were applied in order to provide linguistic data and relate them to other mechanisms of executive functioning, all this information allows us to approach to understand the phenotype (linguistic and cognitive characteristics) and genotype (genetic disorder).

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Why is it important?

In studies of low-prevalence genetic alterations, case reports showing the possibly expected linguistic and cognitive characteristics are essential and thus determine a reference profile. Our work illustrates different types of atypical development that affect both language and other cognitive mechanisms and underlines the importance of executive skills and the different ways in which they intervene at various levels of language that may be affected to a greater or lesser degree in rare genetic disorders. We found that language dysfunction is a prominent feature of the rare genetic disorders included in our study, although this is not necessarily true for all genetic disorders.

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This page is a summary of: Determining the Linguistic Profile of Children With Rare Genetic Disorders, Journal of Speech Language and Hearing Research, December 2023, American Speech-Language-Hearing Association (ASHA),
DOI: 10.1044/2023_jslhr-23-00101.
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