Psychopathology and Cognition in 22q11 copy number variation disorders

The 22q11.2 chromosomal region is one of the regions that has received interest from psychiatric geneticists for over 20 years. A deletion at 22q11.2 is the first and only copy number variant (CNV) unequivocally implicated in schizophrenia, and this was known long before genome-wide analysis of CNVs for schizophrenia were published. In up to 30% of people carrying the deletion at 22q11.2, a psychotic picture fulfilling the DSM criteria for schizophrenia emerges during adolescence or adulthood. More recently, duplication of the same chromosomal region has been associated with a distinct syndrome, but with several features overlapping with 22q11.2 deletion syndrome including velopharyngeal insufficiency, congenital cardiac anomalies, cognitive deficits, behavioural problems, and psychiatric disorders like autism and attention-deficit hyperactivity disorder. Interestingly, psychotic disorders associated with 22q11.2 duplication have not yet been reported in the literature, which is possible due to the fact that most cases described to date involved children. Moreover, results from a recent hallmark study suggest that duplications at 22q11.2 might protect against schizophrenia.

Psychopathology and Cognition in 22q11 CNV disorders

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The study design concerns an observational cross-sectional study investigating cognitive and psychopathological profiles in 22q11CNV disorders