Neuropsychological and social cognition profile in the 22q11 delection syndrome and its relevance for the risk of psychosis: a comparative study with a first psychotic episode sample

• Grant number: 20/15167-1
• Support Opportunities: Scholarships in Brazil - Master
• Start date: October 01, 2021
• End date: March 31, 2022
• Field of knowledge: Humanities - Psychology - Cognitive Psychology
• Principal Investigator: Claudia Berlim de Mello
• Grantee: Rafael Angulo Condoretti Barros Novaes
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated research grant: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype, AP.TEM

Abstract

The 22q11 deletion syndrome (also called Velocardiofacial syndrome) is the genetic disease with the highest risk for developing schizophrenia, where about 25% of the population with the syndrome develops the disease. However, evidence points out that changes in the cognitive profile may serve as discriminatory factors between conversion or not to schizophrenia. Objective: This study aims to analyze relationships between the neuropsychological profile and social cognition between patients with 22q deletion syndrome (22qDS),patients at high risk for psychosis and pacients post first episode psychosis. Method: Three groups of participants (N = 90) with ages between 16 and 20 years will be evaluated, one group with molecular diagnosis compatible with 22qDS, a second group with first episode psychosis and a control group. All participants will perform a protocol of neuropsychological tests and the Reading the mind in the eyes test (RMET) and Edinburgh Social Cognition Test (ESCoT). The participants will also be evaluated by means of behavioral and diagnostic scales for psychotic symptoms. Data analysis: A one-way ANOVA will be used, with Group factor (control, first episode, 22q) and a multiple linear regression analysis with scores in the psychotic symptoms scale (CAARMS) as outcome and social cognition tasks (RMET and ESCoT) scores and IQ as predictors.The relevance of this project consists in elucidating a better understanding of the neuropsychological profile of patients with 22qDS and the impact that their cognitive impairment has on the development of psychotic conditions, thus enabling better identification of risk conditions and facilitating early intervention. (AU)