Language in chromosome 16p11.2 deletion syndrome (Jiménez-Romero et al., 2022)

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 intellectual 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 provide a longitudinal profile of the speech, language, and communication problems 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, overabundance of tangential responses, and lack of metapragmatic awareness and communicative 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.

Supplemental Material S1. Cytogenetic and molecular analyses.

Supplemental Material S2. Scores of the Battelle Developmental Inventory at 35, 48, 59 and 86 months of age.

Supplemental Material S3. The Wechsler Intelligence Scale for Children. Fifth Edition (WISC-V). Summary of test scores (Primary Index Scales).

Supplemental Material S4. The Wechsler Intelligence for Children. Fifth Edition (WISC-V). Summary of Composite Scores (Primary Index Scales).

Supplemental Material S5. The Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V). Summary of composite scores (Secondary Index Scales).

Supplemental Material S6. Clinical Evaluation of Language Fundamental (CELF-4).

Supplemental Material S7. Conversation 1.

Jiménez-Romero, M. S., Fernández-Urquiza, M., & Benítez-Burraco, A. (2022). Language and communication deficits in chromosome 16p11.2 deletion syndrome. Journal of Speech, Language, and Hearing Research. Advance online publication. 

https://doi.org/10.1044/2022_JSLHR-22-00160