title: Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.
abstract: 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.
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Ronnie
authors.initials: R
authors.lastname: Weinberger
authors.affiliation: Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, Children׳s Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: James
authors.initials: J
authors.lastname: Yi
authors.affiliation: Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA.
authors.forename: Monica
authors.initials: M
authors.lastname: Calkins
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Yael
authors.initials: Y
authors.lastname: Guri
authors.affiliation: Division of Human Genetics, The Children׳s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA.
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.affiliation: Division of Human Genetics, The Children׳s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA.
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.affiliation: Division of Human Genetics, The Children׳s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA.
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.affiliation: Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA.
authors.forename: Kosha
authors.initials: K
authors.lastname: Ruparel
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel.
authors.forename: Miri
authors.initials: M
authors.lastname: Carmel
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel.
authors.forename: Elena
authors.initials: E
authors.lastname: Michaelovsky
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel; Research Unit, Geha Mental Health Center, Petah Tikva, Israel.
authors.forename: Abraham
authors.initials: A
authors.lastname: Weizman
authors.affiliation: Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, Children׳s Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Ruben C
authors.initials: RC
authors.lastname: Gur
authors.affiliation: Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Philadelphia Pennsylvania, Philadelphia, PA, USA; Department of Child and Adolescent Psychiatry, Children׳s Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Raquel E
authors.initials: RE
authors.lastname: Gur
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Israel; The Child Psychiatry Unit, Edmond and Lily Sapfra Children׳s Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. Electronic address: gothelf@post.tau.ac.il.
authors.forename: Doron
authors.initials: D
authors.lastname: Gothelf
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003071:Cognition; D003072:Cognition Disorders / Q000235:genetics / Q000523:psychology; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000523:psychology*; D056344:Executive Function; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D007557:Israel; D008297:Male; D009483:Neuropsychological Tests; D015143:Philadelphia; D011618:Psychotic Disorders / Q000235:genetics* / Q000523:psychology*; D012919:Social Behavior; D018980:Williams Syndrome / Q000523:psychology; D055815:Young Adult
keywords: 22q11.2 deletion syndrome; Neurocognition; Penn computerized neurocognitive battery; Psychosis; Schizophrenia