Research & Studies

Severe speech impairment is a distinguishing feature of FOXP1-related disorder

Published May 2021
Home / Research & Studies / Literature Highlights / Severe speech impairment is a distinguishing feature of FOXP1-related disorder
Plain-Language Summary

FOXP1-related disorder is characterized by prominent dysarthria, motor planning deficits, and phonological errors.

This study delineates the speech and language phenotype of a cohort of individuals with FOXP1-related disorder. Individuals were given standardized tests to examine speech and oral motor function, receptive and expressive language, non-verbal cognition, and adaptive behaviour. Clinical history and cognitive assessments were analysed together with speech and language findings. The interpretation of the results is FOXP1-related disorder is characterized by a complex speech and language phenotype with prominent dysarthria, broader motor planning and programming deficits, and linguistic-based phonological errors. Diagnosis of the speech phenotype associated with FOXP1-related dysfunction will inform early targeted therapy.

Published
Published May 2021
Authors

Ruth O Braden, David J Amori, Simon E Fisher, Cristina Mei, Candace T Muers, Heather Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C Swanson, Himanshu Goel, Ingrid E Scheffer, Angela T Morgan