Skip to Content
Atypical neural processing in 22q11.2 Deletion Syndrome and schizophrenia: Towards neuromarkers of disease progression and risk
Session Chair
11/3/22, 10:00 AM - 11/3/22, 10:30 AM (Europe/Amsterdam) (30 minutes)
Prof. Sophie Molholm
Co-Director of the Rose F. Kennedy Intellectual & Developmental Disabilities Research Center (IDDRC), Professor at Departments of Pediatrics, Neuroscience, and Psychiatry & Behavioral Sciences Albert Einstein College of Medicine, New York at Albert Einstein College of Medicine
Prof. Sophie Molholm
Co-Director of the Rose F. Kennedy Intellectual & Developmental Disabilities Research Center (IDDRC), Professor at Departments of Pediatrics, Neuroscience, and Psychiatry & Behavioral Sciences Albert Einstein College of Medicine, New York at Albert Einstein College of Medicine

Professor Sophie Molholm is a Cognitive Neuroscientist at the Albert Einstein College of Medicine, with appointments

in the departments of Pediatrics, Neuroscience and Psychiatry and Behavioral Sciences. She uses multimodal brain imaging,

psychophysics, and standardized cognitive and clinical assessments to probe the brain processes underlying perception and

cognition in neurodevelopmental and neuropsychiatric conditions such as autism and schizophrenia as well as rare genetic disorders

including 22q11.2 deletion syndrome and Rett syndrome. Her research is supported by federal and foundation grants. In addition to

running her lab, she serves as Co-Director of the NIH funded Rose F. Kennedy Intellectual and Developmental Research Center, and

an NIH supported training grant for postdoctoral fellows engaged in research on intellectual and developmental disabilities.

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 I will discuss our electrophysiological (EEG) findings as potential markers for 22q11.2DS and the associated risk for psychosis,

focusing on evidence from auditory processing (auditory-evoked potentials and auditory adaptation), visual processing (visual-evoked

potentials and visual adaptation), and inhibition and error monitoring. Altogether these data 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 and relevance as markers for psychosis and risk for schizophrenia.