The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.

ABSTRACT: Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52,143 individuals, reconstructing clinical histories using a large-scale data mining approach of the Electronic Medical Records (EMR) from an entire large paediatric healthcare network. The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of twenty-six broad speech and language diagnoses. We used Natural Language Processing to assess to which degree clinical diagnosis in full-text notes were refl

SUBMITTER: Magielski J 

PROVIDER: S-EPMC11071575 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature