Electroretinographic and cognitive risk endophenotypes predicts risk of major mood and psychotic disorders in children born to an affected parent

Poster B41,

Elsa Gilbert1,2, Thomas Paccalet2,3, Valérie Jomphe2, Nathalie Gingras2,4, Marc Hébert2,4, Anne-Marie Gagné2, Chantal Mérette2,4, Michel Maziade2,4; 1Université Laval, École de Psychologie, 2Centre de recherche, Institut universitaire en santé mentale de Quebec, CIUSSS de la Capitale Nationale, 3Université du Québec à Trois-Rivières, 4Université Laval, Faculté de Médecine

Background: Risk endophenotypes (cognitive or electrophysiological) observed in adult patients are found in children born to a parent affected by affective and non-affective major psychoses (MP). Such endophenotypes are usually investigated separately. Our objectives were in at-risk children-adolescents: i) to investigate the accumulation of cognitive deficits and electroretinographic (ERG) anomalies; ii) to study the relationship between these endophenotypes. Methods: From a 25-year follow-up of 48 kindreds densely affected by MP starting with 1500 adults (405 were affected by MP), we longitudinally collected extensive measures of cognitive domains and ERG in high-risk offspring (HR, aged 6 to 26 yrs, n=84), compared to 189 controls matched for age and gender. Participants were administered neuropsychological, ERG and clinical assessments. Results: Single deficits in verbal and visual episodic memory, working memory, processing speed or executive functions and single ERG anomalies were more frequent in HR than in controls (odds ratio OR2.8 for cognition and 3.0 for ERG). Rates of combinations of endophenotypes were greater among HR with an OR of 4.7 for cognition and 4.8 for ERG. Our 11-year follow-up allowed us to preliminarily observe that HR who transitioned to MP had more accumulation of risk endophenotypes than those who remained healthy. Discussion: Cognitive and ERG endophenotypes accumulate in a child independently of each other and would characterize the HR who later transition to a MP. These findings are compatible with the multi-trait polygenic theory of psychosis. Investigating the combinations of risk endophenotypes might help for modeling the preclinical staging of children-adolescents at risk.

Topic Area: Neurodevelopmental

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