Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience.

ABSTRACT:

Background

Childhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both to identify new pathogenic gene variants associated with CAS, and to confirm the disease-related role of genes already reported by others. We also set out to refine the clinical and neurodevelopmental characterization of affected children, with the aim of identifying specific, gene-related phenotypes.

Methods

In a single-center study aiming to explore the genetic etiology of CAS in a cohort of 69 Italian children, WES was performed in the families of the 34

SUBMITTER: Formicola D 

PROVIDER: S-EPMC11459770 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature