Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes

Abstract

This is the first clinical description of a detailed psychological, speech, and language phenotype of four young children (<5 years) with Velo-Cardio-Facial syndrome (VCFS) due to a deletion on chromosome 22 (22q11.2). The reported elevated risk of developing schizophrenia or bipolar disorder in adolescence for individuals with this chromosomal deletion led us to examine the psychiatric and cognitive status of young children with VCFS.

Our observations suggest a phenotype comprised of a borderline to mildly retarded level of intellectual functioning, a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought.