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

ABSTRACT: 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.

SUBMITTER: Feller C

PROVIDER: S-EPMC8592949 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:OBJECTIVE:Patients with Korsakoff's syndrome (KS) have difficulty carrying out tasks which rely on prospective memory (PM). Since remembering to carry out an action in the future is crucial for living independently, it is of primary interest to develop strategies that improve PM performance in KS patients. DESIGN:The study employed a computer categorization task as an ongoing activity into which a PM task was embedded. We included episodic future thinking (EFT) and observational learning (Experiment 2) to boost PM. METHODS:Experiment 1 evaluated the efficacy of EFT following written PM task instructions in ten KS patients. Due to floor-level PM performance in Experiment 1, Experiment 2 included an instructional video demonstrating the PM intention. In Experiment 2, twenty-six KS patients performed both conditions (EFT and no-EFT) at least 1 week apart, while twelve controls with alcohol use disorder without KS performed the no-EFT condition. In Experiment 2, the PM instructions were also shown through video (observational learning component). Mild cognitive impairment was assessed in a short test battery. RESULTS:Experiment 1 showed overall floor performance in both conditions. Experiment 2 showed that KS patients performed PM tasks less accurately than the control group in the no-EFT condition. In Experiment 2, where the observational learning component was included, EFT improved PM performance in KS patients. This effect was driven by a sub-group of high-functioning KS patients. CONCLUSIONS:This study showed the value of an observational learning component together with EFT in improving PM performance, in relatively high-functioning KS patients. PRACTITIONER POINTS:KS patients performed the PM task less accurately than non-KS controls with alcohol use disorder, confirming PM impairment in this patient population. Controls with alcohol use disorder performed the PM task at ceiling level. Showing an instructional video demonstrating the PM intention improved PM performance and later recall of PM task instructions in KS patients. Episodic future thinking strategy improved PM performance in KS patients with relatively intact cognitive functioning.

Project description:Recently, increasing numbers of rare pathogenic genetic variants have been identified that are associated with variably elevated risks of a range of neurodevelopmental outcomes, notably including Autism Spectrum Disorders (ASD), Schizophrenia Spectrum Disorders (SSD), and Intellectual Disability (ID). This review is organized along three main questions: First, how can we unify the exclusively descriptive basis of our current psychiatric diagnostic classification system with the recognition of an identifiable, highly penetrant genetic risk factor in an increasing proportion of patients with ASD or SSD? Second, what can be learned from studies of individuals with ASD or SSD who share a common genetic basis? And third, what accounts for the observed variable penetrance and pleiotropy of neuropsychiatric phenotypes in individuals with the same pathogenic variant? In this review, we focus on findings of clinical and preclinical studies of the 22q11.2 deletion syndrome (22q11DS). This particular variant is not only one of the most common among the increasing list of known rare pathogenic variants, but also one that benefits from a relatively long research history. Consequently, 22q11DS is an appealing model as it allows us to: (1) elucidate specific genotype-phenotype associations, (2) prospectively study behaviorally defined classifications, such as ASD or SSD, in the context of a known, well-characterized genetic basis, and (3) elucidate mechanisms underpinning variable penetrance and pleiotropy, phenomena with far-reaching ramifications for research and clinical practice. We discuss how findings from animal and in vitro studies relate to observations in human studies and can help elucidate factors, including genetic, environmental, and stochastic, that impact the expression of neuropsychiatric phenotypes in 22q11DS, and how this may inform mechanisms underlying neurodevelopmental expression in the general population. We conclude with research priorities for the field, which may pave the way for novel therapeutics.

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

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