Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome

Abstract

Purpose: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intel- lectual disability (ID), socialization deficits and/or autism spectrum disorder (ASD) traits, and problems with language. Specifically, a precise characterization of the speech, language, and communication (dis)abilities of people with this condition is still pending. Method: We used standardized tests and samples of naturalistic speech to pro- vide a longitudinal profile of the speech, language, and communication prob- lems of a boy with Chromosome 16p11.2 deletion syndrome and without ID or ASD. Results: The proband shows impaired expressive abilities as well as problems with receptive language, dysprosody, and ASD-like communication deficits, such as impaired interactive skills, perseverative verbal behavior, overabun- dance of tangential responses, and lack of metapragmatic awareness and com- municative use of gaze, meeting the criteria for social pragmatic communication disorder. Conclusions: Our results support the view that language and communication impairment should be regarded as one core symptom of Chromosome 16p11.2 deletion syndrome, even without a diagnosis of ASD or ID. Clinical implications of our results, with a focus on therapeutic interventions for children with 16p11.2 deletion syndrome and no ASD or ID, are also discussed.