The Relationship between Motor Symptoms, Signs, and Parkinsonism with Facial Emotion Recognition Deficits in Individuals with 22q11.2 Deletion Syndrome at High Genetic Risk for Psychosis

Abstract

Background. The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition at high risk of developing both psychosis and motor disorders. Social Cognition (SC) deficits have been associated not only with schizophrenia but also with Parkinson’s disease (PD). The present study assessed SC deficits in 22q11.2DS and investigated the interaction between motor symptoms and deficits in Facial Emotion Expressions (FEE) recognition and in Theory of Mind (ToM) tasks in people with 22q11.2DS. Methods. We recruited 38 individuals with 22q11.2DS without psychosis ( $N=38$ , DEL) and 18 with 22q11.2DS and psychosis ( $N=18$ , DEL_SCZ). The Positive And Negative Syndrome Scale (PANSS), Ekman’s 60 Faces Test (EK-60F), the Awareness of Social Inference Test (TASIT EmRec), and the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III (UPDRS III) were administered. Correlations were sought between UPDRS III and both TASIT EmRec and EK-60F scores. Analyses were conducted separately for each psychopathological subgroup. Results. Higher UPDRS III ( $p=0.04$ ) and lower EK-60F ( $p=0.025$ ) scores were observed in the DEL_SCZ group. We found inverse correlations between UPDRS III and both TASIT EmRec ( $r=-0.289$ , $p=0.031$ ) and EK-60F ( $r=-0.387$ , $p=0.006$ ) scores in the whole sample. Correlations were no longer significant in the DEL_SCZ group (UPDRS III-TASIT EmRec $p=0.629$ ; UPDRS III-EK60F $p=0.933$ ) whilst being stronger in the DEL group (TASIT EmRec, $r=-0.560$ , $p<0.001$ ; EK60F, $r=-0.542$ , $p<0.001$ ). Analyses were adjusted for CPZ Eq and IQ. Conclusions. A modulation between FEE recognition deficits and motor symptoms and signs was observed in the 22q11.2DS group, likely affecting patients’ quality of life.