The Role of COMT in Schizophrenic-Like Cognitive Impairment and Social Functioning in Children with 22q11 Deletion Syndrome

UNCG Author/Contributor (non-UNCG co-authors, if there are any, appear on document)
Kathryn Eve Lewandowski (Creator)
Institution
The University of North Carolina at Greensboro (UNCG )
Web Site: http://library.uncg.edu/
Advisor
Thomas Kwapil

Abstract: Schizophrenia is a severe psychiatric disorder that is hypothesized to represent the most extreme manifestation of a continuum of impairment referred to as schizotypy. As such, many of the cognitive, clinical, behavioral, and neuroanatomical features of schizophrenia should be present and detectable in nonpsychotic individuals who share this vulnerability. Recent findings have led to a renewed interest in the role that the gene that codes for catechol-O-methyltransferase (COMT) plays in the development and expression of schizotypy and schizophrenia. Specifically, an amino-acid polymorphism (Val158Met) in the COMT gene has been associated with schizophrenia based on linkage and association studies, with schizotypy in nonpsychotic adults, and with performance on dopamine-mediated prefrontal functioning in healthy adults and in patients with schizophrenia. Since abnormal functioning in dopaminergic pathways is thought to be associated with schizophrenia, COMT activity may play a role in schizophrenia pathogenesis and expression. The COMT gene is housed at 22q11.2, which maps to the commonly deleted region in 22q11 Deletion Syndrome (22q11DS), a syndrome that is associated with a highly elevated risk for the development of psychosis. The present study investigated the relationship of COMT genotype with neuropsychological impairment and social functioning in a nonpsychotic sample of children with 22q11DS. As hypothesized, participants with the Val allele performed worse on some measures of prefrontal functioning than participants with the Met allele. Additionally, participants with the Val allele exhibited schizophrenic-like social and behavioral deficits. Finally, associations between social and cognitive functioning and a haplotype that has been linked to schizophrenia were examined in patients with 22q11DS.

Additional Information

Publication
Dissertation
Language: English
Date: 2007
Keywords
Psychology, Clinical