title: Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis.
abstract: Adults with 22q11.2 Deletion syndrome (22q11DS) have increased prevalence of schizophrenia features. Our goal is to compare the neurocognitive profile in 22q11DS, schizophrenia and individuals at risk for schizophrenia. Twenty-one 22q11DS patients (8-32 years, mean 14.9 years, 15M, 6F) were matched to four comparison groups on age: low risk (n = 21), first-degree family members of schizophrenia patients (genetic risk, n = 20), individuals exhibiting putatively prodromal symptoms (clinical risk, n = 19), and patients with schizophrenia (n = 21). All participants received semi-structured interviews [Diagnostic Interview for Genetic Studies (DIGS) and the Structured Interview for Prodromal Syndromes (SIPS)], and a computerized neurocognitive battery (CNB) measuring the following domains: Abstraction and Mental Flexibility, Attention, Working Memory, Verbal Memory, Face Memory, Spatial Memory, Language, Spatial Processing, Sensorimotor Dexterity, and Emotion Processing. Sixty percent of 22q11DS participants met SIPS criteria for prodromal symptoms and one participant met criteria for paranoid schizophrenia. Thirty-eight percent met criteria for Depressive Disorders. All 22q11DS participants successfully completed the CNB. 22q11DS participants were significantly less accurate in nearly all domains, but had similar speed of response compared to the other groups. Their profile resembled that of the psychosis groups in accuracy and speed, except for more pronounced deficits in accuracy for face memory and emotion processing. Subthreshold psychotic symptoms are present in a high proportion of 22q11DS participants. Deficits shown in the CNB are more pronounced for accuracy than speed relative to the psychosis groups with similar profiles. Similar deficits have been described in the 22q11DS population using non-computerized measures, which require increased testing time.
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors.forename: Paula C
authors.initials: PC
authors.lastname: Goldenberg
authors.forename: Monica E
authors.initials: ME
authors.lastname: Calkins
authors.forename: Jan
authors.initials: J
authors.lastname: Richard
authors.forename: Donna
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Nandita
authors.initials: N
authors.lastname: Mitra
authors.forename: Beverly
authors.initials: B
authors.lastname: Emanuel
authors.forename: Marcella
authors.initials: M
authors.lastname: Devoto
authors.forename: Karin
authors.initials: K
authors.lastname: Borgmann-Winter
authors.forename: Christian
authors.initials: C
authors.lastname: Kohler
authors.forename: Catherine G
authors.initials: CG
authors.lastname: Conroy
authors.forename: Ruben C
authors.initials: RC
authors.lastname: Gur
authors.forename: Raquel E
authors.initials: RE
authors.lastname: Gur
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003071:Cognition; D003710:Demography; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D011618:Psychotic Disorders / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D012044:Regression Analysis; D012307:Risk Factors; D012559:Schizophrenia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D011795:Surveys and Questionnaires; D055815:Young Adult