Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis

• Published in: Journal of neurodevelopmental disorders Vol. 15; no. 1; pp. 19 - 15
• Main Authors: Francisco, Ana A, Foxe, John J, Molholm, Sophie
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 16.06.2023; BioMed Central; BMC
• Subjects: Adaptation; Analysis; Auditory evoked potentials; Biomarkers; Brain; Cognitive ability; Development and progression; DiGeorge syndrome; DiGeorge Syndrome - psychology; EEG; Enterprise resource planning; Event-related potentials; Evoked Potentials; Health risk assessment; Hearing; Humans; Information processing; Intellectual disabilities; Medical research; Medicine, Experimental; Memory; Mental disorders; Phenotypes; Psychosis; Psychotic Disorders - complications; Response inhibition; Review; Schizophrenia; Schizophrenia - complications; Schizophrenia - genetics; Sensory integration; Sensory processing; Velo-cardio-facial syndrome; Visual evoked potentials; Visual perception; Error monitoring; Response inhibition; DiGeorge syndrome; EEG; Velo-cardio-facial syndrome; Schizophrenia; Sensory processing
• ISSN: 1866-1955; 1866-1947; 1866-1955
• DOI: 10.1186/s11689-023-09487-9

22q11.2 deletion syndrome (22q11.2DS) is a multisystemic disorder characterized by a wide range of clinical features, ranging from life-threatening to less severe conditions. One-third of individuals with the deletion live with mild to moderate intellectual disability; approximately 60% meet criteria for at least one psychiatric condition.22q11.2DS has become an important model for several medical, developmental, and psychiatric disorders. We have been particularly interested in understanding the risk for psychosis in this population: Approximately 30% of the individuals with the deletion go on to develop schizophrenia. The characterization of cognitive and neural differences between those individuals who develop schizophrenia and those who do not, despite being at genetic risk, holds important promise in what pertains to the clarification of paths to disease and to the development of tools for early identification and intervention.Here, we review our previous event-related potential (ERP) findings as potential markers for 22q11.2DS and the associated risk for psychosis, while discussing others' work. We focus on auditory processing (auditory-evoked potentials, auditory adaptation, and auditory sensory memory), visual processing (visual-evoked potentials and visual adaptation), and inhibition and error monitoring.The findings discussed suggest basic mechanistic and disease process effects on neural processing in 22q11.2DS that are present in both early sensory and later cognitive processing, with possible implications for phenotype. In early sensory processes, both during auditory and visual processing, two mechanisms that impact neural responses in opposite ways seem to coexist-one related to the deletion, which increases brain responses; another linked to psychosis, decreasing neural activity. Later, higher-order cognitive processes may be equally relevant as markers for psychosis. More specifically, we argue that components related to error monitoring may hold particular promise in the study of risk for schizophrenia in the general population.