El objetivo de este capítulo es proponer un protocolo básico para la detección y caracterización de los problemas de lenguaje en las enfermedades raras, la formulación de alguna hipótesis básica acerca de las causas moleculares de dichos déficits, y una intervención logopédica (y también psicopedagógica) eficaz, destinada a mejorar las habilidades comunicativas generales de los afectados. Dicho protocolo pasa por realizar un estudio lo más detallado posible de los debilidades y fortalezas lingüísticas (pero también cognitivas y conductuales) de los sujetos afectados, una interpretación del perfil lingüístico resultante a la luz de lo que se sabe actualmente sobre los fundamentos biológicos del lenguaje, y la adopción de estrategias terapéuticas (eminentemente logopédicas, cognitivas y conductuales) destinadas, en lo fundamental, a potenciar la comunicación multimodal.
Chromosome 16p11.2 Deletion Syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 25 genes at chromosome 16. Affected people exhibit a variable clinical profile, featuring developmental and language delay, mild intellectual disability (ID), motor problems, social deficits and some autism spectrum disorders (ASD) traits, and mild dysmorphisms. A precise characterization of the language and communication (dis)abilities of the affected people is still pending. We report in detail on the language and communication problems of a boy with this syndrome and without ID. The proband shows impaired expressive abilities, as well as problems with receptive language; dysprosody; and ASD-like communication deficits, such as impaired interactive skills, perseverative verbal behavior, overabundance of tangential responses, and lack of metapragmatic awareness and communicative use of gaze. Our results support the view that language and communication impairment should be regarded one core symptom of Chromosome 16p11.2 Deletion Syndrome, even without a diagnosis of ASD or ID.
Copy-number variations (CNVs) impacting on small DNA stretches and that are associated to language deficits provide a unique window to the role played by specific genes in language function. We report in detail on the cognitive and language features of a girl bearing a small deletion (0,186 Mb) in the 2p16.3 region (arr[hg19] 2p16.3(50761778-50947729)x1), affecting to exons 3-7 of NRXN1, a neurexin-coding gene previously related to schizophrenia (SZ), autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID). The proband exhibits many of the features commonly found in subjects with deletions of NRXN1, like ASD-like traits (including ritualized behaviors, disordered sensory aspects, social disturbances and impaired theory of mind), ADHD symptoms, moderate ID, and impaired speech and language. Regarding this latter aspect, we observed altered speech production, underdeveloped phonological awareness, minimal syntax, serious shortage of active vocabulary, impaired receptive language, and inappropriate pragmatic behavior (including lack of metapragmatic awareness and communicative use of gaze). Although these problems might arise from some basic cognitive deficit, such as the impairment of executive function, we provide evidence that several genes important for language function are dysregulated in the proband compared to their healthy parents.
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