Encoding and retrieval processes in velo-cardio-facial syndrome (VCFS)

Velo-cardio-facial syndrome (VCFS) is a neurogenetic disorder associated with very high risk for developing schizophrenia. More than half of affected individuals experience transient psychotic symptoms during childhood and a third may develop schizophrenia. Memory regulation deficits disturbing both the encoding and retrieval stages of memory represent core deficits in the cognitive profile associated with schizophrenia. In this study, the authors investigate memory regulation processes in 33 individuals with VCFS along with 33 age- and sex-matched control participants. By using a directed forgetting paradigm and a continuous recognition paradigm, the authors examined selective encoding and suppression of irrelevant contents during retrieval in VCFS. Group comparison analyses revealed comparable performances on selective encoding and recognition accuracy between the VCFS group and control group. However, individuals with VCFS were more likely to make false recognitions and showed deficits in the suppression of irrelevant contents. Results suggest that trait-like deficits of memory regulation in VCFS can be observed during the retrieval stage, while selective encoding remains efficient. Memory regulation processes during retrieval may constitute a trait deficit in the memory profile of individuals with VCFS and may contribute to the cognitive deficits underlying an increased risk for developing schizophrenia in this population

Episodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning

AbstractEpisodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF was investigated, as well as the potential role of projecting oneself in a social vs. non-social context. Seventy-seven participants [24 with 22q11DS, 20 with ASD, 33 typically developing controls (TDs)] (aged 12–25) were included. They were assessed with a future thinking task in which they were asked to recall a memory and produce a likely event. Narratives were rated based of specificity, richness and imaginability. Participants completed questionnaires assessing AP and SF. Narratives from ASD and 22q11DS participants were rated as less vivid compared to TDs. However, the characteristics of the narratives differed between ASD and 22q11DS participants in terms of specificity and level of details, as well as in reaction to social condition. Moreover, correlations were found between AP and EFT in both ASD and 22q11DS participants, and between SF and EFT in ASD participants. These results point towards impairments in EFT in both ASD and 22q11DS participants but with a specific profile in each condition. The observed associations between EFT and AP suggest that decreased autonoetic consciousness might underlie AP impairments. In ASD individuals, the association between SF and EFT highlights the need to better characterize EFT since EFT could be another mechanism contributing to social difficulties

Increased affective reactivity to daily social stressors is associated with more severe psychotic symptoms in youths with 22q11.2 deletion syndrome

AbstractFinal datase

Characterizing daily‐life social interactions in adolescents and young adults with neurodevelopmental disorders: a comparison between individuals with autism spectrum disorders and 22q11.2 deletion syndrome

Social impairments are common features of 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The Ecological Momentary Assessment (EMA) allowed access to daily-life information in order to explore the phenom- enology of social interactions. 32 individuals with 22q11DS, 26 individuals with ASD and 44 typically developing peers (TD) aged 12–30 were assessed during 6 days 8 times a day using a mobile app. Participants with 22q11DS and ASD did not spend more time alone but showed distinct implication in the social sphere than TD. Distinct profiles emerged between the two conditions regarding the subjective experience of aloneness and the subjective experience of social interactions. This study highlights distinct social functioning profiles in daily-life in 22q11DS and ASD that points towards different therapeutic targets

Long-lasting rescue of network and cognitive dysfunction in a genetic schizophrenia model

Although sensitizing processes occur earlier, schizophrenia is diagnosed in young adulthood, which suggests that it might involve a pathological transition during late brain development in predisposed individuals. Parvalbumin (PV) interneuron alterations have been noticed, but their role in the disease is unclear. Here we demonstrate that adult LgDel+/- mice, a genetic model of schizophrenia, exhibit PV neuron hypo-recruitment and associated chronic PV neuron plasticity together with network and cognitive deficits. All these deficits can be permanently rescued by chemogenetic activation of PV neurons or D2R antagonist treatments, specifically in the ventral hippocampus (vH) or medial-prefrontal cortex during a late-adolescence-sensitive time window. PV neuron alterations were initially restricted to the hippocampal CA1/subiculum, where they became responsive to treatment in late adolescence. Therefore, progression to disease in schizophrenia-model mice can be prevented by treatments supporting vH-mPFC PV network function during a sensitive time window late in adolescence, suggesting therapeutic strategies to prevent the outbreak of schizophrenia

Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders

Backgrounds Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life.Methods This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12–30 years. All participants were assessed with role-plays as well as parent-reported questionnaires and clinical interviews focusing on social skills, functioning and anxiety.Results Both clinical groups showed impaired social skills compared to TD, but distinct social profiles emerged between the groups. Individuals with 22q11DS displayed higher social appropriateness and clarity of speech but weaker general argumentation and negotiation skills, with the opposite pattern observed in participants with ASD. No association was found between social skills measured by direct observation and caregiver reports. Social anxiety, although higher in clinical groups than in TD, was not associated with role-plays.Conclusions This study highlights the need to train social skills through tailored interventions to target the specific difficulties of each clinical population. It also highlights the importance of combining measures as they do not necessarily provide the same outcome.</p

Psychotic experiences in daily-life in adolescents and young adults with 22q11.2 deletion syndrome: an Ecological Momentary Assessment study

AbstractObjectives: 22q11.2 deletion syndrome (22q11DS) is a genetic condition associated with a markedly increased risk for psychosis. Psychotic experiences (PE) are classically evaluated by clinical interviews that give little information about the fluctuation of these symptoms in daily-life. Therefore, the current study aims to investigate these phenomena using the Ecological Momentary Assessment (EMA), a structured diary technique that collects real-life measures in the everyday-life context, and to examine how these manifestations relate to a goal standard semi-structured assessment of PE. Method: Eighty-six adolescents and young adults with 22q11DS as well as healthy controls (HC) aged 12-27 were recruited. All participants completed a 6-day ESM protocol assessing momentary psychotic experiences as well as their current mood (measured by positive and negative affects). The presence of (attenuated) psychotic symptoms was assessed in the 22q11DS group with a clinical interview (SIPS). Results: Our main findings indicate that participants with 22q11DS reported more intense and more frequent momentary PE than HC and similar associations between affects (both PA and NA) and momentary PE. In participants with 22q11DS, more intense and more frequent momentary PE measured by EMA were associated with the severity of SIPS positive symptoms. Finally, participants with 22q11DS reporting at least attenuated positive symptoms of psychosis on the SIPS had more frequent and more intense momentary PE than participants with 22q11DS without psychotic symptoms. Conclusions: Altogether, this study highlights the validity of EMA to assess PE and broadens previous findings about mood and PE associations

Episodic future thinking in autism spectrum disorder and 22q11.2 deletion syndrome: association with anticipatory pleasure and social functioning

Episodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF was investigated, as well as the potential role of projecting oneself in a social vs. non-social context. Seventy-seven participants [24 with 22q11DS, 20 with ASD, 33 typically developing controls (TDs)] (aged 12–25) were included. They were assessed with a future thinking task in which they were asked to recall a memory and produce a likely event. Narratives were rated based of specificity, richness and imaginability. Participants completed questionnaires assessing AP and SF. Narratives from ASD and 22q11DS participants were rated as less vivid compared to TDs. However, the characteristics of the narratives differed between ASD and 22q11DS participants in terms of specificity and level of details, as well as in reaction to social condition. Moreover, correlations were found between AP and EFT in both ASD and 22q11DS participants, and between SF and EFT in ASD participants. These results point towards impairments in EFT in both ASD and 22q11DS participants but with a specific profile in each condition. The observed associations between EFT and AP suggest that decreased autonoetic consciousness might underlie AP impairments. In ASD individuals, the association between SF and EFT highlights the need to better characterize EFT since EFT could be another mechanism contributing to social difficulties