title: Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome.
abstract: 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic condition associated with increased risk for schizophrenia. No study do date has explored how positive and negative symptoms of psychosis are distributed among individual patients with 22q11.2DS and if distinct patterns of symptoms can be identified. Negative symptoms being more frequent than positive symptoms in 22q11.2DS, we expected that a high number of patients would display predominant negative symptoms (PNS), whereas predominant positive symptoms would be less frequently reported. The present study aims at investigating the cognitive deficits and functional outcome associated with distinct patterns of psychotic symptoms in 22q11.2DS. 63 adolescents and young adults with 22q11.2DS participated in this study. Each participant underwent a clinical and a cognitive evaluation. A cluster analysis was used to identify groups of individuals with distinct patterns of symptoms. Individuals from the different clusters were then compared on a series of cognitive measures and on functional outcome. Three clusters of individuals were identified: low levels of symptoms, PNS, and high levels of symptoms. Individuals with PNS had significantly lower visual memory scores and decreased processing speed compared to participants with low levels of symptoms. They were also rated as having lower functional and occupational outcome. The present results indicate that one third of adolescents and young adults with 22q11.2DS display PNS. This pattern of symptoms was associated with specific cognitive deficits and decreased functional outcome. Future studies are needed to examine the developmental trajectories of these individuals and assess their risk of conversion to full-blown psychosis.
authors.affiliation: Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, 1 David Dufour, CP 50, 1211 Geneva 8, Switzerland; Cognitive Psychopathology and Neuropsychology Unit, Faculty of Psychology, University of Geneva, 40 Pont d'Arve, 1205 Geneva, Switzerland. Electronic address: Maude.Schneider@unige.ch.
authors.forename: Maude
authors.initials: M
authors.lastname: Schneider
authors.forename: Martial
authors.initials: M
authors.lastname: Van der Linden
authors.forename: Sarah
authors.initials: S
authors.lastname: Menghetti
authors.forename: Bronwyn
authors.initials: B
authors.lastname: Glaser
authors.forename: Martin
authors.initials: M
authors.lastname: Debbané
authors.forename: Stephan
authors.initials: S
authors.lastname: Eliez
mesh_terms: D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D016000:Cluster Analysis; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications*; D006801:Humans; D009483:Neuropsychological Tests; D011569:Psychiatric Status Rating Scales; D011618:Psychotic Disorders / Q000209:etiology* / Q000235:genetics; D055815:Young Adult
keywords: 22q11.2 Deletion syndrome; Cluster; Negative symptoms; Psychotic symptoms