Correlations Between Linguistic Phenotype and Genetic Alterations in Rett Syndrome

Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the MECP2 gene affecting around 1 in 10,000 female births. Clinical manifestations include severe linguistic and motor impairments that are the core of phenotype symptoms. Some patients show a moderate level of conservation of linguistic functions while others lose the use of functional verbal communication. This paper aims at correlating residual linguistic capacity, connected to breathing alterations, to specific RTT genotype. In particular, the relation between breathing alterations and the pathological severity caused by locus’mutation is investigated.

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