Visual processing of complex social scenes in 22q11.2 deletion syndrome: Relevance for negative symptoms.

Current explanatory models of negative symptoms in schizophrenia have suggested the role of social cognition in symptom formation and maintenance. This study examined a core aspect of social cognition, namely social perception, and its association with clinical manifestations in 22q11.2 deletion syndrome (22q11DS), a genetic model of schizophrenia. We used an eye-tracking device to analyze developmental trajectories of complex and dynamic social scenes exploration in 58 participants with 22q11DS compared to 79 typically developing controls. Participants with 22q11DS showed divergent patterns of social scene exploration compared to healthy individuals from childhood to adulthood. We evidenced a more scattered gaze pattern and a lower number of shared gaze foci compared to healthy controls. Associations with negative symptoms, anxiety level, and face recognition were observed. Findings reveal abnormal visual exploration of complex social information from childhood to adulthood in 22q11DS. Atypical gaze patterns appear related to clinical manifestations in this syndrome.

Goal-Directed-Behavior in 22q11.2 Deletion Syndrome: Implication for Social Dysfunctions and the Emergence of Negative Symptoms.

BACKGROUND: Negative symptoms and social dysfunction are core features of the 22q11.2 deletion syndrome (22q11DS). Negative symptoms have been conceptualized as pathology of goal-directed-behaviors. Moreover, goal-directed-behaviors also appear to be a crucial step of social interactions. However, in 22q11DS, the extent to which goal-directed-behavior could be linked to social functioning difficulties and negative symptoms has never been examined. METHOD: Verbal and nonverbal initiation was measured using the verbal fluency and figural fluency tasks in 93 individuals with 22q11DS and 57 healthy controls aged between 8 and 30 years in order to assess goal-directed-behavior ability. The associations between initiation scores and social functioning/negative symptoms were investigated. In addition, the effect of COMT Val/Met polymorphism on initiation competences was examined. RESULTS: Results revealed diminished verbal and nonverbal initiation ability in 22q11DS individuals compared to controls. A positive correlation between verbal initiation and social functioning was found as well as between verbal initiation and negative symptoms, in particular social anhedonia. No differences in terms of initiation scores were found between individuals with 22q11DS carrying Met and Val polymorphism. CONCLUSION: Results indicate impaired goal-directed-behavior in the 22q11DS population. These deficits seem to support social functioning impairments frequently observed in the 22q11DS and to a lesser extent the expression of negative symptoms.

Divergent default mode network connectivity during social perception in 22q11.2 deletion syndrome.

AIM: The 22q11.2 deletion (22q11DS) syndrome is a neurogenetic condition marked by social dysfunction. A major network involved in social cognition is the default mode network (DMN). To date, no study has investigated DMN functional connectivity during socio-cognitive paradigms in 22q11DS. METHOD: We used the psychophysiological analysis (PPI) to investigate functional connectivity of the DMN during social perception in 22 participants with 22q11DS and 22 healthy controls. Association between DMN connectivity and prodromal symptoms was also examined. RESULTS: 22q11DS patients exhibited stronger connectivity between the inferior parietal lobule (IPL) and the posterior cingulate cortex (PCC)/precuneus as well as lower connectivity between the precuneus and middle/superior frontal regions compared to controls. Association between IPL-PCC/precuneus connectivity and negative symptoms was also found in individuals with 22q11DS. CONCLUSION: Our results point to (1) divergent DMN connectivity in patients with 22q11DS compared to controls; (2) association between DMN connectivity and negative symptom severity in patients. Results support the role of the DMN in social deficits of the 22q11DS population.

Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome.

22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000-4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adulthood in a large cohort composed of two significant samples. 260 individuals with 22q11.2DS, 134 male and 126 female, aged 5-59 years (mean age 21.3 ± 10.8 years) were evaluated at two sites, Geneva (GVA) and Tel Aviv (TA). Psychiatric comorbidities, IQ score, and adaptive functioning were assessed using gold-standard diagnostic tools. Demographic factors, such as data about education, employment, marital status, and living status, were collected. Children entering elementary school (5-12 years) were significantly more likely to attend a mainstream school, while adolescents were significantly more likely to attend special education schools (p < 0.005). Cognitive abilities, and not adaptive functioning, predicted school placement. Among adults with 22q11.2DS (n = 138), 57 (41.3%) were unemployed, 46 (33.3%) were employed in open market employment, and 35 (25.4%) worked in assisted employment. In adulthood, adaptive functioning more than cognitive abilities predicted employment. Surprisingly, psychotic spectrum disorders were not found to be associated with employment. Individuals with 22q11.2DS are characterized by heterogeneity in educational and employment profiles. We found that cognitive abilities and adaptive functioning, and not the presence of psychiatric disorders, are key factors in school placement and employment. These factors should, therefore, be taken into account when planning optimal development of individuals with 22q11.2DS.

Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome.

BACKGROUND: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. RESULTS: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients. CONCLUSIONS: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.

Time-based prospective memory in children and adolescents with 22q11.2 deletion syndrome.

OBJECTIVE: 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome (VCFS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and characterized by marked impairment in visual attention and executive function. The present study examined if this cognitive deficit extends to prospective memory (the type of memory involved in remembering to perform actions in the future). METHOD: 20 participants with 22q11.2DS aged between 6 and 14 were included in the study as well as 22 typically developing individuals (TDC) aged 6-12. To measure prospective memory, participants were asked to play a driving game (the Dresden Cruiser). This time-based prospective memory task required children to remember to refuel their car when the fuel level was low by pressing a refuel button while driving. RESULTS AND DISCUSSION: Participants with 22q11.2DS remembered less often to refuel the car. Furthermore, participants with 22q11.2DS checked the fuel gage significantly less often than the controls. CONCLUSIONS: Participants with 22q11.2DS therefore demonstrate difficulties completing a time-based prospective memory task. This can be explained by a generally less frequent time checking behavior in comparison to TDC.

Present and future selves in Parkinson's disease.

The study of the self in neuropsychological patients raises not only theoretical questions on the relationships between the self, autobiographical memory (AM), and episodic future thinking but also clinical issues for patients' daily life and care. We addressed this issue in Parkinson's disease patients for whom AM and future thinking impairments have been documented. All patients and controls generated and dated up past and future self-images and provided associated past and future events. Our findings suggest a subtle pattern of preservation/impairment of different dimensions (quantitative and qualitative) of self-images, which rely partially on the episodic quality of past and future events.