The prevalence of autism spectrum disorders [ASD] in epilepsy is approximately 20%-32%, with previous research reporting high rates of under-diagnosis of ASD in epilepsy. Current psychological assessments were adapted to provide epilepsy-specific measures of behaviour, which increased validity by addressing specific methodological problems highlighted by several researchers. The initial experiments provided a comprehensive investigation of autistic traits and characteristics in a heterogeneous group of adults with epilepsy without any ASD diagnosis to quantify the extent to which autistic characteristics are related to seizure activity. Adults with epilepsy showed higher autistic traits and impaired social responsiveness while systemizing and empathising abilities remained intact. Further, autistic traits and impaired social responsiveness increased again during seizure activity. Social responsiveness positively correlated with anti-epileptic drug [AED] control. Adults with epilepsy and seizure remission demonstrated significant improvements in restricted, repetitive behaviours compared to adults with current epileptic seizures. Together, these results demonstrate a relationship between seizure activity and autistic characteristics, and are consistent with previous suggestions that AEDs may mask autistic characteristics. The impaired social skills and communication are consistent with research suggesting that the pathogenesis of epilepsy may disrupt social functioning. However, whether this can be directly attributed to social cognitive deficits remains uncertain. The main research addresses this uncertainty by conducting three experiments to assess the Somatic Marker Hypothesis and the mechanisms which underpin it. The rationale is to establish whether this is a valid explanatory model for disrupted neurobiological factors implicated in social cognitive processing. This hypothesis is appropriate for investigating adults with epilepsy, some who may have developed typical social abilities in early life before epilepsy onset. Results from the IOWA Gambling Task demonstrated that adults with epilepsy had impaired decision making abilities compromising somatic marker formation, crucial for social cognition. However, this deficit occurred in the absence of other socio-emotional and memory impairments. In conclusion, adults with epilepsy have a higher rate of autistic characteristics, and their social difficulties may be associated with compromised somatic marker formation. Future research needs to determine the heritability of these autistic traits and characteristics.

No description available.

La schizotypie est un trait de personnalité caractérisé par un niveau subclinique de symptômes de la schizophrénie, avec des caractéristiques dites positives (croyances et perceptions inhabituelles) ou négatives (retrait et anxiété sociale). Cette thèse a pour but de mieux comprendre comment la schizotypie s'articule avec d'autres dimensions psychopathologiques.Dans une première partie nous avons étudié les liens entre schizotypie et traits autistiques dans 2 populations d'étudiants scientifiques au moyen d'analyses par classification. Une première analyse sur la base des traits schizotypiques et autistiques a identifié 4 groupes avec des profils distincts, dont un cluster à haut niveau de traits. Cette combinaison de traits est associée à des signes de dégradation psychopathologique (symptômes anxieux et dépressifs, attachement insécurisé) et à de moindres performances académiques. Une deuxième étude propose une typologie des étudiants en fonction des traits schizotypique, autistique et cyclothymique. Cette typologie fait apparaître un cluster à hauts traits, avec un niveau élevé de symptômes de dépression et d'idéation suicidaire et de moindres résultats universitaires. Ces 2 études suggèrent donc que la combinaison de traits schizotypes et autistiques a une influence négative sur la réussite dans le domaine scientifique, en lien avec une comorbidité dépressive.La deuxième partie établit une typologie du jeune adulte afin de réexaminer le concept de "schizotypie saine", défini comme trait de schizotypie positive sans autre dimensions de la schizotypie. Nos résultats confirment que la shizotypie positive est associée à des bénéfices (e.g., qualité perçue des relations interpersonnelles) mais aussi à des traits de troubles de la personnalité et à des symptômes psychopathologiques, ce qui interpelle le concept de schizotypie saine. Dans une dernière étude nous avons identifié des biais illustrant l’impression que la schizotypie positive est plus saine qu’en réalité. / Schizotypy is a personality trait characterized by subclinical levels of schizophrenia symptoms, including positive (odd beliefs and unusual perceptions) or negative (withdrawal and social anxiety) features. This thesis aimed at a better understanding of how schizotypy articulates with other psychopathological dimensions.As a first part, we studied the links between schizotypy and autistic traits in 2 samples of scientific college students, using a cluster analysis. A first analysis based on schizotypal and autistic dimensions identified 4 groups with distinct profiles, including a cluster with high levels of traits. This combination of traits was associated with significant psychopathological degradation (anxiety and depressive symptoms, insecure attachment) and with lesser academic performances. A second study identified a typology of students based on schizotypal, autistic and cyclothymic traits. This typology showed a high traits cluster with elevated levels of depressive symptoms and suicidal ideations, and lesser academic results. These 2 studies thus suggest that association of schizotypal and autistic traits could impair success in scientific background, in relationship with a depressive comorbidity.The second part identified a typology of young adults aiming at reassessing the concept of "healthy schizotypy", defined as a trait of positive schizotypy without other schizotypal dimensions. Our results confirm that positive schizotypy is associated with benefits (e.g., perceived quality of interpersonal relations) but also with traits of personality disorders and psychopathological symptoms, which questions the concept of healthy schizotypy. In a last study we identified biases illustrating the impression that positive schizotypy may seem healthier than in reality.

The direction in which another is looking at triggers a spontaneous orienting of attention towards gaze direction in the viewer. However, whether the facial expression displayed by the gazing individual modulates this attention orienting is unclear. In this thesis, the modulation of gaze-oriented attention with facial expressions was explored in non-anxious individuals at the behavioral level and at the neural level using Event-Related Potentials (ERP). In the gaze-cueing paradigm used, a dynamic face cue averting gaze and expressing an emotion was presented, followed by a lateral, to-be-localized target. At the behavioral level, a faster response to targets appearing at the gazed-at location (congruent targets) than to targets appearing opposite to the gazed-at location (incongruent targets) was observed (Chapters 3-5). This so-called Gaze Orienting Effect (GOE) was enhanced with fearful, angry and surprised expressions relative to neutral and happy expressions and was driven by emotional differences in response speed to congruent targets (Chapters 3-5). These effects could not be attributed to better discrimination of those emotions when presented with an averted gaze (Chapter 2). These results confirm the impact of fear and surprise on gaze-oriented attention in non-anxious individuals and demonstrate, for the first time, a similar impact for angry expressions. All the emotions enhancing the GOE signal an evolutionary relevant stimulus in the periphery, are threat-related and carry a negative valence, which suggests that one of these attributes (or all combined) is driving the emotional modulation of gaze-oriented attention (surprise is treated like fear in the context of fearful expressions). In Chapter 4, the effect of the dynamic cue sequence on these GOE modulations was investigated. An emotional modulation of the GOE was found only when the gaze shift preceded the emotional expression, but not when the emotion was expressed before gaze shift or when expression and gaze shift were simultaneous. These results highlight the importance of using a sequence closer to real life situations (we usually orient attention before reacting to an object in the environment) in studying the modulation of the GOE with emotions. At the neural level, we investigated the ERPs associated with gaze-oriented attention at target presentation and at cue presentation (Chapters 3 and 5). Confirming previous reports, the amplitude of a target-triggered P1 ERP component was larger in the congruent than in the incongruent condition, reflecting enhanced processing of gaze-congruent targets. In addition, cue-triggered ERPs previously observed in response to arrow cues, were investigated. An Early Directing Attention Negativity (EDAN) and an Anterior Directing Attention Negativity (ADAN) were found, indexing respectively attention-orienting to the cued location and maintenance of attention at the cued location. This is the first study to report both EDAN and ADAN components in response to gaze cues. These results show clear markers of attention orienting by gaze at the neural level, during both cue and target processing. Neither EDAN nor ADAN was modulated by emotion. The congruency effect on P1 was enhanced for fearful, surprised and happy faces compared to neutral faces in Chapter 3 but no differences between the emotions were found in Chapter 5. Thus, the emotional modulation of the brain processes involved in gaze-oriented attention is very weak and protracted or occurs mainly between target onset and response to target. The relationships between participants’ autistic traits and their emotional modulation of gaze-oriented attention were also investigated. Results showed a negative correlation with the GOE to happy upright faces and with the P1 congruency effect, which suggests that individuals with more severe autistic traits are less sensitive to the impact of social emotions like joy. The implication of these results for attention orienting in general and for individuals with Autism Spectrum Disorder is discussed. Together, the findings reported in this thesis clarify the behavioral and neural processes involved in gaze oriented attention and its modulation by facial expression in addition to demonstrating a relationship between gaze oriented attention, its modulation with social emotions and autistic traits.

The direction in which another is looking at triggers a spontaneous orienting of attention towards gaze direction in the viewer. However, whether the facial expression displayed by the gazing individual modulates this attention orienting is unclear. In this thesis, the modulation of gaze-oriented attention with facial expressions was explored in non-anxious individuals at the behavioral level and at the neural level using Event-Related Potentials (ERP). In the gaze-cueing paradigm used, a dynamic face cue averting gaze and expressing an emotion was presented, followed by a lateral, to-be-localized target. At the behavioral level, a faster response to targets appearing at the gazed-at location (congruent targets) than to targets appearing opposite to the gazed-at location (incongruent targets) was observed (Chapters 3-5). This so-called Gaze Orienting Effect (GOE) was enhanced with fearful, angry and surprised expressions relative to neutral and happy expressions and was driven by emotional differences in response speed to congruent targets (Chapters 3-5). These effects could not be attributed to better discrimination of those emotions when presented with an averted gaze (Chapter 2). These results confirm the impact of fear and surprise on gaze-oriented attention in non-anxious individuals and demonstrate, for the first time, a similar impact for angry expressions. All the emotions enhancing the GOE signal an evolutionary relevant stimulus in the periphery, are threat-related and carry a negative valence, which suggests that one of these attributes (or all combined) is driving the emotional modulation of gaze-oriented attention (surprise is treated like fear in the context of fearful expressions). In Chapter 4, the effect of the dynamic cue sequence on these GOE modulations was investigated. An emotional modulation of the GOE was found only when the gaze shift preceded the emotional expression, but not when the emotion was expressed before gaze shift or when expression and gaze shift were simultaneous. These results highlight the importance of using a sequence closer to real life situations (we usually orient attention before reacting to an object in the environment) in studying the modulation of the GOE with emotions. At the neural level, we investigated the ERPs associated with gaze-oriented attention at target presentation and at cue presentation (Chapters 3 and 5). Confirming previous reports, the amplitude of a target-triggered P1 ERP component was larger in the congruent than in the incongruent condition, reflecting enhanced processing of gaze-congruent targets. In addition, cue-triggered ERPs previously observed in response to arrow cues, were investigated. An Early Directing Attention Negativity (EDAN) and an Anterior Directing Attention Negativity (ADAN) were found, indexing respectively attention-orienting to the cued location and maintenance of attention at the cued location. This is the first study to report both EDAN and ADAN components in response to gaze cues. These results show clear markers of attention orienting by gaze at the neural level, during both cue and target processing. Neither EDAN nor ADAN was modulated by emotion. The congruency effect on P1 was enhanced for fearful, surprised and happy faces compared to neutral faces in Chapter 3 but no differences between the emotions were found in Chapter 5. Thus, the emotional modulation of the brain processes involved in gaze-oriented attention is very weak and protracted or occurs mainly between target onset and response to target. The relationships between participants’ autistic traits and their emotional modulation of gaze-oriented attention were also investigated. Results showed a negative correlation with the GOE to happy upright faces and with the P1 congruency effect, which suggests that individuals with more severe autistic traits are less sensitive to the impact of social emotions like joy. The implication of these results for attention orienting in general and for individuals with Autism Spectrum Disorder is discussed. Together, the findings reported in this thesis clarify the behavioral and neural processes involved in gaze oriented attention and its modulation by facial expression in addition to demonstrating a relationship between gaze oriented attention, its modulation with social emotions and autistic traits.

Autistic traits are a composition of behavioral constructs that encompasses social functioning, communication, and rigid and repetitive behaviors that might impact an individual’s quality of life. The specificity of these traits is not yet fully understood, nor which traits that might be most debilitating for autistic people. We recruited 366 participants, out of which 78 were diagnosed as autistic, and measured levels of different character traits as well as their quality of life. We ran a Bayesian regression model and found extreme evidence that the behavioral constructs of prosopagnosia, social anhedonia, alexithymia and cognitive empathy contribute to autistic social functioning, while affective empathy did not seem to contribute to the same extent. To estimate the effect of each construct on quality of life we employed Causal Inference methodology and found likely effects of social anhedonia (-0.131 [-0.248, 0.00]) and alexithymia (-0.255 [-0.37, -0.154]). Therefore, both social anhedonia and alexithymia might be effective targets for intervention for autistic people struggling with social functioning.

Síndrome de Williams-Beuren (SWB) é caracterizada por fácies típico, estenose aórtica supravalvar, retardo mental, hiperacusia e anormalidades comportamentais com personalidade amigável e distúrbios de ansiedade. É causada por microdeleção de genes contíguos localizados na região 7q11.23. Foram estudados 31 pacientes WBS (19 M e 12 F) a idade variou de 9 a 26 anos (mediana 14). O diagnóstico da SWB foi confirmado pelo FISH (Fluorescence In Situ Hibridisation) ou análise de marcadores microssatélites em todos os pacientes. Os objetivos foram avaliar a capacidade cognitiva, o QI (Quociente de Inteligência) de execução, verbal e total, a freqüência de déficits visuo-espaciais, traços autisticos e comparar os resultados encontrados com os moleculares. Os testes utilizados foram: WISC-III, WAIS-III, Figuras Complexas de Rey e Escala de Traços Autísticos (ATA). O QI total variou de 51 a 86 (mediana de 63): 22 com deficiência mental leve, 4 com deficiência mental moderada; 4 limítrofes, 1 média inferior. Todos os pacientes apresentaram déficit visuo-espacial. A freqüência de traços autisticos foi encontrada em 13/31 pacientes (41,94%) com predomínio no sexo masculino (10M: 3F). Não foi encontrada correlação entre a presença de traços autísticos em relação ao tamanho da deleção. Nosso estudo reforça a importância da avaliação sistemática da função cognitiva em pacientes com SWB e alerta para a presença da alta freqüência de traços autísticos encontrados em pacientes com SWB. Estes últimos dados são preliminares e novos estudos serão necessários para confirmar esse achado específico na SWB. / Williams-Beuren syndrome (WBS) is characterized by typical facies, supravalvular aortic stenosis, mental retardation, hyperacusis and behavioral abnormalities with overfriendly personality and anxiety disorders. It is caused by a microdeletion of continuous genes located in 7q11.23 region. We studied 31 WBS patients (19 M and 12 F) whose ages ranged from 9 to 26 years (median 14y). The diagnosis of WBS was confirmed by FISH or microsatellite markers analysis in all patients. The objectives were to evaluate cognitive ability, IQ(Intelligence Quotient) execution, verbal and total, frequency of visual-spatial deficits and autistic traits and compare the results of molecular findings. The tests used were the WISC-III, WAIS-III, Rey Complex Figure and a scale of autistic traits (ATA). The total IQ ranged from 51 to 86 (median 63): 22 with mild intellectual disability, 4 with moderate metal retardation, 4 limitrofe and 1 below the normal mean. All patients had marked visual-spatial deficit. The frequency of autistic traits were found in 13 of 31 patients (41.94%) with a predominance in males (10M:3F). There was no correlation with the incidence of autistic traits in relation to the size of the deletion. Our study reinforces the importance of the systematic assessment of cognitive function in WBS patients, and alerts researchers to the presence of a high frequency of autistic traits found in patients with WBS. These latter data are preliminary and further studies are necessary to confirm this specific finding in WBS patients.

Síndrome de Williams-Beuren (SWB) é caracterizada por fácies típico, estenose aórtica supravalvar, retardo mental, hiperacusia e anormalidades comportamentais com personalidade amigável e distúrbios de ansiedade. É causada por microdeleção de genes contíguos localizados na região 7q11.23. Foram estudados 31 pacientes WBS (19 M e 12 F) a idade variou de 9 a 26 anos (mediana 14). O diagnóstico da SWB foi confirmado pelo FISH (Fluorescence In Situ Hibridisation) ou análise de marcadores microssatélites em todos os pacientes. Os objetivos foram avaliar a capacidade cognitiva, o QI (Quociente de Inteligência) de execução, verbal e total, a freqüência de déficits visuo-espaciais, traços autisticos e comparar os resultados encontrados com os moleculares. Os testes utilizados foram: WISC-III, WAIS-III, Figuras Complexas de Rey e Escala de Traços Autísticos (ATA). O QI total variou de 51 a 86 (mediana de 63): 22 com deficiência mental leve, 4 com deficiência mental moderada; 4 limítrofes, 1 média inferior. Todos os pacientes apresentaram déficit visuo-espacial. A freqüência de traços autisticos foi encontrada em 13/31 pacientes (41,94%) com predomínio no sexo masculino (10M: 3F). Não foi encontrada correlação entre a presença de traços autísticos em relação ao tamanho da deleção. Nosso estudo reforça a importância da avaliação sistemática da função cognitiva em pacientes com SWB e alerta para a presença da alta freqüência de traços autísticos encontrados em pacientes com SWB. Estes últimos dados são preliminares e novos estudos serão necessários para confirmar esse achado específico na SWB. / Williams-Beuren syndrome (WBS) is characterized by typical facies, supravalvular aortic stenosis, mental retardation, hyperacusis and behavioral abnormalities with overfriendly personality and anxiety disorders. It is caused by a microdeletion of continuous genes located in 7q11.23 region. We studied 31 WBS patients (19 M and 12 F) whose ages ranged from 9 to 26 years (median 14y). The diagnosis of WBS was confirmed by FISH or microsatellite markers analysis in all patients. The objectives were to evaluate cognitive ability, IQ(Intelligence Quotient) execution, verbal and total, frequency of visual-spatial deficits and autistic traits and compare the results of molecular findings. The tests used were the WISC-III, WAIS-III, Rey Complex Figure and a scale of autistic traits (ATA). The total IQ ranged from 51 to 86 (median 63): 22 with mild intellectual disability, 4 with moderate metal retardation, 4 limitrofe and 1 below the normal mean. All patients had marked visual-spatial deficit. The frequency of autistic traits were found in 13 of 31 patients (41.94%) with a predominance in males (10M:3F). There was no correlation with the incidence of autistic traits in relation to the size of the deletion. Our study reinforces the importance of the systematic assessment of cognitive function in WBS patients, and alerts researchers to the presence of a high frequency of autistic traits found in patients with WBS. These latter data are preliminary and further studies are necessary to confirm this specific finding in WBS patients.

Sibling contact (synchronous or asynchronous) in young adulthood may have implications for individual well-being (health, life satisfaction & depressive symptoms). This link may be moderated by each individuals' traits, specifically autistic characteristics. Current literature has examined sibling contact, mediums of contact, autism relationships, but has yet to consider sibling contact moderated by autistic traits. This study analyzed data from 390 young adults 61% female, mean age = 25.65) who gave self-reports over two collection waves. Structural Equation Models found that regardless of autistic traits, synchronous contact was linked with increased life satisfaction as well as lower depressive symptoms, and asynchronous contact was linked with increased life satisfaction. Interactions between each type of contact and autistic traits found that for those lower in autistic traits, increases in each type of contact was linked with greater life satisfaction, and higher levels of asynchronous contact was linked with lower depressive symptoms, for those with lower levels of autistic traits. Autistic traits do moderate the process of siblings communicating and create a neutral space for those who are higher in traits. Young adults should prioritize sibling contact to improve their life satisfaction and depressive symptoms, and clinicians should encourage sibling contact in young adulthood.

Belohnungen sind im Leben des Menschen von enormer Bedeutung. Es wurde vermutet, dass die zentralen sozialen Schwierigkeiten bei Autismus-Spektrum-Störungen (ASS) auf eine verminderte Reaktionsfähigkeit auf spezifische soziale Belohnungen zurückzuführen sein könnten. Die Literatur zu diesem Thema ist jedoch nicht schlüssig. Diese Dissertation umfasst vier Studien, die die Reaktionsfähigkeit auf soziale und nicht-soziale Belohnungen unter besonderer Berücksichtigung von ASS und autistischen Merkmalen untersuchen. In den Studien 1 und 2 wurden neuronale (ereigniskorrelierte Potenziale), autonome (Pupillengröße) und verhaltensbezogene (Selbstberichte und Reaktionszeiten) Indizes der Reaktion auf soziale und nicht-soziale Belohnungen bei Personen mit ASC sowie mit ausgeprägten und geringen autistischen Merkmalen untersucht. Wir stellten fest, dass ein höheres Maß an autistischen Merkmalen bei klinischen ASS und in der Allgemeinbevölkerung mit einer verstärkten neuronalen und autonomen Verarbeitung, typischen Leistungen und einer geringeren selbstberichteten Belohnungssensitivität verbunden war. Studie 3 untersuchte die Auswirkungen von sozialer Vertrautheit und Belohnungskontext auf die Pupillenreaktionen. Die Ergebnisse deuten darauf hin, dass der Belohnungswert eines positiven Reizes bei vertrauten Gesichtern höher ist und von der Assoziation zwischen Handlung und Ergebnis abhängt. Studie 4 ist eine theoretische Perspektive zum Verständnis der Multidimensionalität von Belohnungen und zum Umgang damit. In allen Studien konnte ich nachweisen, dass das Belohnungsverhalten von ASS vielfältig und atypisch, aber nicht defizitär ist. Außerdem schlage ich eine Definition von Belohnung vor, die sie von einem rein positiven Stimulus unterscheidet. Schließlich erörtere ich diese Arbeit im breiteren Rahmen der sozialneuropsychologischen Forschung und zeige Möglichkeiten auf, wie sie in künftigen Studien weiter verbessert werden kann. / Rewards are immensely important in human lives. It has been suggested that the core social difficulties in autism spectrum conditions (ASC) may stem from lowered responsiveness to specifically social rewards. However, the literature on this topic is inconclusive. This dissertation includes four studies investigating reward responsiveness to social and non-social rewards with particular focus on ASC and autistic traits. Studies 1 and 2 investigated neuronal (event-related potentials), autonomic (pupil sizes) and behavioural (self-reports and reaction times) indexes of responsiveness to social and non-social rewards in individuals with ASC, and with high and low autistic traits. We observed that higher levels of autistic traits in clinical ASC and in the general population were linked to enhanced neuronal and autonomic processing, typical performance, and decreased self-reported reward sensitivity. Study 3 investigated the effects of social familiarity and rewarding context on pupillary responses. The results indicated that the reward value of a positive stimulus is higher for more familiar faces and depends on action-outcome associations. Study 4 is a theoretical perspective on understanding and working with multidimensionality of rewards. Across all studies, I provide evidence for multifaceted and atypical, but not deficient, reward responsiveness in ASC. Further, I propose a definition of reward which differentiates it from a merely positive stimulus. Finally, I discuss this work in the broader framework of social neuropsychology research and identify the ways in which it can be further improved in future studies.