Fig. 1: Genetic causes for childhood apraxia of speech over time.

a Genetic causes identified for CAS over time. WGS, whole genome sequencing; WES, whole exome sequencing. More patients have undergone WGS to date. The yield to date has been similar for WGS and WES. No variants have been reported in non-coding regions to date. b CAS candidate genes and co-occurring neurodevelopmental phenotypes. An association between a gene and a phenotype was denoted if the association was higher than the prevalence in the general population. c Overlap in phenotype in children with CAS, comparing those with a pathogenic variant and those with no known cause. Phenotypic features of CAS cohorts with (n = 29) and without (n = 74) pathogenic genetic variants, based on data from Hildebrand et al. (2020) and Kaspi et al. (2023). Authors were approached for any updated diagnoses for study participants. Confirmation of diagnoses for cognitive impairment, ASD, receptive and expressive language impairment, and gross and fine motor impairment was based on psychometric testing/clinical report. Seizure diagnosis is based on parent report.