Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome

Ronnie Weinberger, James Yi, Monica Calkins, Yael Guri, Donna M. McDonald-McGinn, Beverly S. Emanuel, Elaine H. Zackai, Kosha Ruparel, Miri Carmel, Elena Michaelovsky, Abraham Weizman, Ruben C. Gur, Raquel E. Gur, Doron Gothelf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition. These deficits would be present when compared to IQ- matched individuals with Williams Syndrome (WS). Three groups were ascertained from the Tel Aviv and Philadelphia centers: 22q11DS individuals with a psychotic disorder (n=31), nonpsychotic 22q11DS (n=86) and typically-developing controls (TD, n=828). In Tel Aviv a group of individuals with WS (n=18) matched in IQ to the 22q11DS psychotic group was also included. The Penn Computerized Neurocognitive Battery (CNB) was used to assess a wide-range of cognitive functions and all patients underwent structured psychiatric evaluations. 22q11DS individuals performed poorly on all CNB domains compared to TD. Participants with 22q11DS and psychosis, compared to nonpsychotic 22q11DS, had more severe deficits in global neurocognitive performance (GNP), executive function, social cognition and episodic memory domains. The primary deficits were also significant when comparing the Tel Aviv 22q11DS psychotic group to IQ-matched individuals with WS. In conclusion, 22q11DS individuals with a psychotic disorder have specific neurocognitive deficits that are reliably identified cross nationality using the CNB. These cognitive dysfunctions should be further studied as potential endophenotypes of psychosis in 22q11DS and as targets for intervention.

Original languageEnglish
Pages (from-to)1610-1618
Number of pages9
JournalEuropean Neuropsychopharmacology
Issue number10
StatePublished - 1 Oct 2016


FundersFunder number
National Institutes of HealthMH087626, MH101719
National Institute of Mental HealthU01MH087636
United States-Israel Binational Science Foundation2011378


    • 22q11.2 deletion syndrome
    • Neurocognition
    • Penn computerized neurocognitive battery
    • Psychosis
    • Schizophrenia


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