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.
Perspectives
I hope that this work will allow us to understand a little more about the behavior of some genetic alterations framed in rare diseases, which face many challenges when it comes to providing effective support that allows functional socio-communicative integration. During the realization of this work we met many parents who did not know why, how and what was the genetic alteration of their children, therefore, we need this research to reach the professionals who treat families who receive or suffer from a rare genetic alteration and that these data can be used to explain to the families what to expect and how to act.
Ana Alejandra Espinosa Mojica
Cádiz University
Read the Original
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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