FOXP2-Related Speech and Language Disorder

Abstract

Clinical characteristicsFOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous FOXP2 pathogenic variants (including whole- or partial-gene deletions). The core phenotype of FOXP2-SLD is childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, and the accurate sequencing of speech sounds into syllables and syllables into words. CAS also interferes nonselectively with multiple other aspects of language, including phonology, grammar, and literacy. Additional findings in FOXP2-SLD can include oral-motor dyspraxia (difficulty planning or programming oral movements on comma..