Dissertations / Theses on the topic 'Troubles du spectre de la Schizophrénie'
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Coulon, Nathalie. "Liens entre troubles du spectre autistique et schizophrénies précoces ?" Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066430/document.
Full textContext : Autism spectrum disorders (ASD) , early onset schizophrenia (EOS) or even very early onset schizophrenia (VEOS)... so many terms used these days! Although today, classifications are categorical, work is however increasing to deepen and understand a possible link between ASD and schizophrenia spectrum disorders, and especially a link between ASD and early onset schizophrenia. Objective : To clarify clinical and biological links between ASD and EOS (before age 18) and especially links between ASD and VEOS (before age 13). Méthod: 62 subjects, divided into three groups according to age at onset of schizophrenia : strictly before age 13 (VEOS ), between age 13 and 18 (EOS) and after 18 (Adult Onset Schizophrenia, AOS). For each group, two clinical evaluations are assessed: search early symptoms of autism with the ADI-R (Autism Diagnostic Interview-Revised) and phenotypic evaluation with MINI (Mini International Neuropsychiatric Interview), BPRS (Brief Psychiatric Rating Scale), PANSS (Positive And Negative Symptoms Scale for schizophrenia), STAI (State Trait Anxiety Inventory), TAS (Toronto Alexithymia Scale) et NSS (Neurological Soft Signs). Biological analysis is based on salivary cortisol measurements, collected during a 24-h period (0800h-day 1, 1100h, 1600h, 2400h, 0800h-day2), in order to evaluate the stress response of the hypothalamic-pituitary-adrenal axis. Résults: VEOS symptoms > EOS symptoms > AOS symtoms. The earlier the schizophrenia is and the more present premorbid history of autism is and the more abnormal stress response is (abnormal stress response also present in relatives). Conclusion: A clinico-biological link appears between VEOS and ASD, with early symtoms of autism before thirty six months and stress response abnormalities. Are VEOS different from schizophrenia? Anyway, a diagnosis to know better in order to improve patients and families cares
Le, Gall Eva. "Exploration neurocognitive des liens entre les troubles du spectre schizophrénique et les troubles du spectre autistique : Profils communs et différences fonctionnelles dans les domaines du fonctionnement cognitif général, du langage figuré et de la cognition sociale." Thesis, Nice, 2016. http://www.theses.fr/2016NICE2004/document.
Full textSchizophrenia Spectrum Disorders and Autism Spectrum Disorders (ASD) have similar difficulties in communication, social interaction, affects and emotions. These apparent similarities raise the question whether similar or different neurocognitive processes might underlie similar symptoms and cognitive profiles. However, currently, very few experimental studies directly compare individuals with autism and schizophrenia in different cognition areas.The major aim of the present Doctoral Dissertation was to address these issues by exploring three areas: cognitive profile (the assessment of general cognitive functioning and the quantitative and the qualitative analysis of verbal fluency), pragmatic language (idiom comprehension in context and novels metaphors’ comprehension) and social cognition (facial affect recognition and attributional style). In each of these areas, the major results showed that despite apparent cognitive similarities, neurocognitive functioning observed in patients with schizophrenic disorders and autism were characterized by significant qualitative differences that were examined and discussed in the context of the international literature and in relation to the possible clinical perspectives
Dor-Nedonsel, Emmanuelle. "Les schizophrénies précoces : épidémiologie, exploration clinique et neurocognitive, phénotypage de familles d'enfants avec schizophrénie et autisme." Electronic Thesis or Diss., Université Côte d'Azur (ComUE), 2017. http://theses.univ-cotedazur.fr/2017AZUR4093.
Full textEarly Onset Schizophrenia (EOS), a rare neurodevelopmental disorder (≈0.01%) is categorized into two types: Very Early Onset Schizophrenia, before age 13 and Adolescent Schizophrenia between ages 13 and 18. This diagnosis is a difficult one to make and considering the lack of knowledge on EOS, we can presume that it is in fact under-diagnosed and that our treatment and management options are still not very specific. We conducted a first epidemiological prevalence study consisted in evaluating: (1) the rate of subjects with EOS diagnostic criteria among 302 children who receive care in psychosocial and sanitary care facilities in the PACA region; (2) the clinical and neurocognitive characteristics of those children with EOS; (3) the rate of children with both EOS and ASD criteria within the same sample. In a second study, focusing on a subgroup of children with comorbid EOS and ASD, we analyzed first-degree relatives from a psychopathological, personality and cognitive viewpoint. The results are: a high rate of patients (8.9%) with an EOS diagnosis, a male gender majority (59.3%), an average age of 12.4 (SD=3.2), an average intelligence quotient of 72.5 (SD=21.4), a rate of 82.8% of subjects with hallucinations, 70% with EOS negative symptoms, 41.2% with comorbid autism, and 51.5% with antipsychotic medications. The study of family members shows that mothers have a higher rate of personality disorders, autistic traits and psychiatric disorders, as well as a lower average IQ. The creation and the characterization of a phenotype of this cohort have led to a family-genetic analysis based on exome sequencing in the parents and children with EOS following this study
Dor-Nedonsel, Emmanuelle. "Les schizophrénies précoces : épidémiologie, exploration clinique et neurocognitive, phénotypage de familles d'enfants avec schizophrénie et autisme." Thesis, Université Côte d'Azur (ComUE), 2017. http://www.theses.fr/2017AZUR4093/document.
Full textEarly Onset Schizophrenia (EOS), a rare neurodevelopmental disorder (≈0.01%) is categorized into two types: Very Early Onset Schizophrenia, before age 13 and Adolescent Schizophrenia between ages 13 and 18. This diagnosis is a difficult one to make and considering the lack of knowledge on EOS, we can presume that it is in fact under-diagnosed and that our treatment and management options are still not very specific. We conducted a first epidemiological prevalence study consisted in evaluating: (1) the rate of subjects with EOS diagnostic criteria among 302 children who receive care in psychosocial and sanitary care facilities in the PACA region; (2) the clinical and neurocognitive characteristics of those children with EOS; (3) the rate of children with both EOS and ASD criteria within the same sample. In a second study, focusing on a subgroup of children with comorbid EOS and ASD, we analyzed first-degree relatives from a psychopathological, personality and cognitive viewpoint. The results are: a high rate of patients (8.9%) with an EOS diagnosis, a male gender majority (59.3%), an average age of 12.4 (SD=3.2), an average intelligence quotient of 72.5 (SD=21.4), a rate of 82.8% of subjects with hallucinations, 70% with EOS negative symptoms, 41.2% with comorbid autism, and 51.5% with antipsychotic medications. The study of family members shows that mothers have a higher rate of personality disorders, autistic traits and psychiatric disorders, as well as a lower average IQ. The creation and the characterization of a phenotype of this cohort have led to a family-genetic analysis based on exome sequencing in the parents and children with EOS following this study
Remy, Irving. "Les fonctions visuelles rétiniennes et corticales dans les troubles du spectre de la schizophrénie et les situations à risque de psychose." Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ030.
Full textPsychotic disorders are characterized by severe functional consequences, with emerging evidence of impairment in low-level visual functions. Most notably, the anatomical and functional link between the retina and the visual cortex led to hypotheses concerning the association between alterations in both visual stages. We investigated retinal and cortical visual electrophysiological measurements in schizophrenia spectrum disorders and situations at risk of psychosis, of which regular cannabis use and early phases of psychosis are an integral part. The results highlighted alterations in most retinal cells and deficits in the primary visual cortex, with a potential link between both measures in schizophrenia. The relevance of electrophysiological biomarkers also lies in the link described with psychotic symptoms, motivating them to be used more widely in clinical practice to improve diagnosis
Martinez, Gilles. "Continuum autisme-schizophrénie : apport de l’étude de la cognition sociale et de marqueurs phénotypiques développementaux." Thesis, Sorbonne Paris Cité, 2017. http://www.theses.fr/2017USPCB065/document.
Full textAutism and schizophrenia are both neurodevelopmental psychiatric disorders. Research on early-onset schizophrenia, commonly associated to autism spectrum disorders (ASD), suggested a possible developmental continuum between both of these disorders. Clinical and epidemiological evidence, and research from molecular genetics or brain imaging, come to support this hypothesis. In this context, social cognition is a matter of special interest. Impairments are reported both in the two disorders, but with inconsistent results, revealing common features as well as differences. Otherwise, links between social cognition impairments and neurodevelopmental burden have been until now poorly explored. Through the contribution of our three studies, we confirmed the importance of social cognition impairment in autism and schizophrenia. The MASC test (Movie for the Assessment of Social Cognition), an original tool which was by our findings validated in a French version, revealed higher overall impairment of mentalizing capabilities in ASD than in schizophrenia. Animated Shapes (non verbal test of attribution of intentions) revealed qualitative differences: whereas hypomentalizing is common both to ASD and schizophrenia, overmentalizing seemed to be more important in schizophrenia. Furthermore, along a continuum between autism and schizophrenia, social cognition impairment was linked to thought and language disorganization, and to neurological soft signs (a marker for neurodevelopmental load). In addition, in subjects with schizophrenia, overmentalizing was correlated to the precocity of onset of the disease. Altogether, our results highlight the need to screen developmental feature in adulthood. In that way, we presented preliminary results in order to validate a developmental disorders screening self-rated questionnaire. As a conclusion, our results bring evidence in favour of a hypothesis of a continuum between autism and schizophrenia, showing a social cognition impairment in both disorders, correlated to the neurodevelopmental load existing in both of them in a transnosographic way. We contributed to emphasize the sub-group of subjects with schizophrenia with early-onset of disease, characterized by a tendency to overmentalizing and presenting a marked disorganization. Our work provides avenue to further studies, integrating neuroimaging and genetic data, that will help to advance in a deeper comprehension of the pathophysiology of autism and schizophrenia. Furthermore, we used and validated in this work promising tools to improve finely psychopathological evaluation and differential diagnosis in adults suffering from autism and from schizophrenia
Bussière, Sylvain. "Prédiction de l'employabilité à partir du potentiel d'apprentissage chez les personnes présentant un trouble du spectre de la schizophrénie." Thèse, Université du Québec à Trois-Rivières, 2012. http://depot-e.uqtr.ca/6151/1/030404053.pdf.
Full textFernandez, Arnaud. "Exploration du profil clinique et génétique des patients atteints de schizophrénie précoce et de leurs apparentés au 1er degré - un protocole d’étude familiale et multicentrique en population française : Protocole GenAuDiss." Electronic Thesis or Diss., Université Côte d'Azur, 2021. http://theses.univ-cotedazur.fr/2021COAZ6010.
Full textEarly-onset schizophrenia (EOS) is a rare, severe and neurodevelopmental form of schizophrenia beginning before the age of 18. In order to better understand the complex genetic basis of this disorder, we have developed a pilot project with the main objective of clinically and genetically characterize EOS patients presenting additional neurodevelopmental disabilities. Given the clinical and genetic overlap of EOS with other neurodevelopmental disorders, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), we paid particular attention to the genes involved in neurodevelopment.This is a multi-center study carried out from April 2014 to May 2023 in a paediatric population. Inclusion criteria are: age 7-22 years, a diagnosis of EOS (K-SADS-PL DSM-5) with premorbid autistic symptoms (ADI-R 0-5 years) and IQ > 40; parents and siblings are included. Clinical profile explorations are performed using standardized tools (KSADS-PL and PANSS) and included neurocognitive assessments (WISC-V/WAIS-IV), the search for psychiatric co-morbidities, neurodevelopmental disorders and associated extracerebral somatic pathologies. The exploration of the genetic profile consists in identifying genetic mutations by a hierarchical approach searching for Fragile-X Syndrome (PCR), CGH-array and, in case of negativity of the previous examinations, DNA sequencing (exome) in trio (mother, father, child). Finally; we proceed to the prioritization of genes by combining multiple bioinformatics tools.20 subjects were included: 15 boys and 5 girls. The mean age of onset of the disorder was 8.90 years (+/-2.30). Psychiatric comorbidities (DSM-5) were ADHD (15/20 patients), anxiety disorders (14/20) and ASD (13/20). The mean IQ was 70.26 (+/-18.09). Language delay and school disruption were noticed in 18/20 patients. The main associated somatic condition was asthma (15/20 patients). Genetically, we report a 10q26.3 324 kb microduplication in one patient (with familial segregation), encompassing part of the INPP5A gene. We have shown that its homologue 5PtaseI is specifically expressed in the Drosophila central nervous system. Furthermore, we have identified, through DNA sequencing of 9 exomes of patients in trio (27 subjects with mother, father and child) and bioinformatics tools, the presence of variants in genes belonging to the Wnt, cadherin and cholecystokinin signaling pathways.In our EOS patients, we have shown a large clinical heterogeneity with psychiatric co-morbidities and neurodevelopmental disorders systematically associated. INPP5A is expressed in the brain (human, mouse and Drosophila), is highly conserved between species and encodes a InsP3 5-phosphatase whose hydrolysis products mobilize intracellular calcium, essential for the morphogenesis of dendritic spines in neurons. The alteration of this process, by the InsP3/Ca2+ signaling pathway, is found in both schizophrenia and ASD, strengthening the link between these disorders. In addition, we have made the first description of the potential involvement of the Wnt, Cadherin and Cholecystokinin signaling pathways in EOS. The already described involvement of these different pathways in other neurodevelopmental and/or psychiatric disorders underlines the genetic heterogeneity of this disorder. Therefore, elucidating the molecular mechanisms of EOS and paving the way for specific therapeutic interventions will require systematic and large-scale: 1) definition of the precise syndromic diagnosis of EOS with an exact age of onset and determination of the premorbid neurodevelopmental phenotype, psychiatric comorbidities and associated extracerebral somatic pathologies; 2) genetic evaluation using a hierarchical approach up to whole genome sequencing; 3) data sharing between teams on an international scale with the constitution of specific, comparable, genetic, and molecular databases correlated to the precise phenotypes of the different forms of EOS
Rothärmel, Maud. "La résistance pharmacologique dans les pathologies psychiatriques : Exemple de la dépression, la schizophrénie et l'autisme. Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing Les traitements pharmacologiques dans les troubles du spectre de l’autisme Troubles de l’humeur ? Quand recourir à la stimulation magnétique transcrânienne ? Repeated transcranial magnetic stimulation (rTMS) to improve electroconvulsive therapy (ECT) in TReatment-Resistant Depression : a report of two cases." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMR125.
Full textDrug resistance is a common problem in medicine, that also concerns psychiatry. As there are resistant epilepsies, there are resistant depression or schizophrenia. Autism is in a slightly different situation as there is no reference treatment for neurodevelopmental disorders. These three disorders constitue major public health issues from both the economic and social perspective with important functional impact of the disease. After focusing on the definition of drug resistance in depression, schizophrenia and autism and on the hypothetical underlying pathophysiological processes, we investigated what could be common to these disorders. This allowed us to understand how to optimize their treatments. Several augmentation methods are possible, such as the potentiation of drugs between them or the potentiation of drugs by neurostimulation (electroconvulsive therapy, ECT, repetitive transcranial magnetic stimulation, rTMS, transcranial direct current stimulation, tDCS). In the second part of this work, we studied the effects of different ways to optimizing treatments : the use of clozapine on aggressive behaviors for patients with autism spectrum disorders (ASD) ; the use of tDCS on executive functions in patients with ASD ; the clozapine augmentation strategie by ECT in ultra-resistant schizophrenia and the ECT augmentation strategie by rTMS in treatment-resistant depression. Our encouraging results led us to focus on the mechanisms of these potentiation strategies, including ECT and on the development of new protocols to confirm our results
Faget-Agius, Catherine. "Etude des bases neurales structurales et fonctionnelles des troubles cognitifs et de la qualité de vie dans la schizophrénie par imagerie cérébrale multimodale." Thesis, Aix-Marseille, 2015. http://www.theses.fr/2015AIXM5050/document.
Full textWe conducted a multimodal neuroimaging approach combining the study of working memory activation with fMRI, the study of microstructural abnormalities associated with impaired QoL using MTI and the study of the functional brain substrate of QoL using SPECT. We aimed to characterize structural and functional neural basis of cognitive impairment and QoL in schizophrenia. We secondarily aimed to test the predictive value of cognitive impairment and QOL for the evolution and functioning in schizophrenia.First, we explored brain activation during a working memory task between patients with short disease duration and patients with long disease duration. We found a functional reorganization in patients with long schizophrenia duration having brain hyperactivations relative to short schizophrenia duration patients. Secondly, we investigated and compared microstructural abnormalities in patients with preserved Qol and impaired QoL. We showed that patients with impaired QoL had more microstructural changes in brain regions affected by the disease process of schizophrenia.Finally, we studied the neural substrate of QoL in schizophrenia. We reported that brain regions involved in cognitions, emotional information processing and social cognition underlie the different QoL dimensions in schizophrenia. On the one hand, our findings suggest that a functional reorganization in the working memory neural network plays a compensatory role in the schizophrenia course. On the other hand, our results suggest that QoL could be the early expression of brain abnormalities induced by the disease process of schizophrenia
Drozd, Malgorzata. "Caractérisation fonctionnelle des nouveaux gènes et des voies moléculaires impliquées dans les troubles du développement du cerveau." Electronic Thesis or Diss., Université Côte d'Azur, 2020. http://theses.univ-cotedazur.fr/2020COAZ6021.
Full textDevelopmental Brain Disorders (DBDs) encompass a highly heterogeneous group of disorders that manifest through cognitive, motor, neurobehavioral, neuroanatomical and neurophysiological aberrations originating from developmental brain dysfunction. DBDs include, among others, Intellectual Disability (ID), some forms of epilepsy, Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder, learning and language disorders and Schizophrenia (SCZ). During my thesis, I was involved in two distinct research projects. The first project aimed at the functional characterization of new genes implicated in Early Onset Schizophrenia (EOS), ASD and ID. During this study, Whole Exome Sequencing of 9 TRIOs (affected child and both parents) was performed in order to find new genes that are involved in the pathogenesis of EOS. Probands were diagnosed with EOS, which in some cases was combined with other phenotypes such as ASD or ID. I found some very rare variants that have a putative pathological impact on the phenotype of the patients according to in silico analysis. One variant was identified in the gene Serine/threonine-protein kinase 33 (STK33) that is a distant member of the CAMK group of serine/threonine kinases. The members of this family participate in the regulation of calcium homeostasis that was shown to be altered in patients with schizophrenia. To further evaluate the pathological impact of mutation in STK33 I created a cellular model in the SH-SY5Y cell line by the CRISPR-Cas9 technique mimicking the potential variant found in the patient. To describe the phenotype of the mutated cell line, I performed the analysis of gene and protein expression as well as calcium imaging experiments. The second project during my thesis was associated with characterization of a novel spontaneous mutation in the Kcc2 gene in mouse suffering from spontaneous tonic-clonic seizures starting at the age of four months. The Kcc2 gene codes the neuronal potassium chloride co-transporter KCC2, which participates in extrusion of chloride ions from cells, protection of neuronal networks against excitotoxicity, dendrite morphogenesis and in the maintenance of the excitation/inhibition balance. Variants in this gene are believed to have a strong potential to cause neurodevelopmental dysfunctions. Most of them are associated with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS), which belongs to a group of rare epileptic syndromes. We developed the present study with the aim of characterizing the first spontaneous epilepsy model in mouse due to a mutation in the Kcc2 gene by correlating neuronal activity, seizure appearance and social and cognitive behavior with gene expression. To date these functional studies were not performed since Kcc2-KO mice die few days after birth and heterozygous animals were never studied in detail. The mutation identified in our mice affects the same amino acid that has been found mutated in an EIMFS patient (R857L), offering a unique opportunity to study the etiology of EIMFS in vivo. So far, we observed that in mutant Kcc2 mice, production of the protein is strongly decreased in brain cortex, hippocampus and striatum. Moreover, cross-linking assay and immunohistochemical analysis revealed a decrease of the KCC2 protein at the membrane level. By performing intracranial ElectroEncephaloGraphy, it was possible to observe the shape of the typical spike for epileptic mouse. For the time being, behavioral studies revealed that mutant Kcc2 mice exhibit learning and memory deficits. These findings gave us a strong background for further evaluation of our model and a possibility to get further insight into the pathogenesis of EIMFS with the final purpose to define therapeutic interventions
Del, Goleto Sarah. "Trouble de la théorie de l’esprit dans le spectre de la schizophrenie : forme sociale de l’altération des processus de contextualisation ? : études comportementales et électrophysiologiques de la compréhension de l’ironie et de l’ambiguïté dans la schizotypie - schizophrénie." Thesis, Paris 8, 2018. http://www.theses.fr/2018PA080054.
Full textTheory of mind disturbances are a core manifestation of schizophrenia spectrum disorders. They contribute to the social handicap associated with the pathology, leading to disruption in autonomy, professional achievement, and interpersonal relationships. According to several authors, these disturbances may be due to a contextual impairment. Irony comprehension as a context-dependent ToM exercise is an ideal way to test this hypothesis. The first aim of this work was to clarify the contextual impairment’s role in ToM disturbances in schizotypy-schizophrenia using the paradigm of irony through behavioral and electrophysiological measures. The second aim was to identify the conditions in which these ToM disturbances occur and the conditions in which they can be compensated. Our results suggest that (i) ToM difficulties in schizotypy-schizophrenia result from abnormalities in context processing, (ii) these difficulties relate specifically to the updating of the mental states’ representation according to the context, e.g. a mentalizing process underlayed by retroactive contextual strategies known to be altered in schizotypy-schizophrenia, and (iii) structuring the semantic context can improve ToM's abilities in the schizophrenia’s spectrum, while the presence of an unknown co-actor seems to inhibit these abilities. Our results also highlight a link between the participant’s ToM disturbances and their social difficulties. In conclusion, this work indicates the relevance of cognitive remediation programs that target contextual processing in schizophrenia spectrum disorders
Del, Goleto Sarah. "Trouble de la théorie de l’esprit dans le spectre de la schizophrenie : forme sociale de l’altération des processus de contextualisation ? : études comportementales et électrophysiologiques de la compréhension de l’ironie et de l’ambiguïté dans la schizotypie - schizophrénie." Electronic Thesis or Diss., Paris 8, 2018. http://www.theses.fr/2018PA080054.
Full textTheory of mind disturbances are a core manifestation of schizophrenia spectrum disorders. They contribute to the social handicap associated with the pathology, leading to disruption in autonomy, professional achievement, and interpersonal relationships. According to several authors, these disturbances may be due to a contextual impairment. Irony comprehension as a context-dependent ToM exercise is an ideal way to test this hypothesis. The first aim of this work was to clarify the contextual impairment’s role in ToM disturbances in schizotypy-schizophrenia using the paradigm of irony through behavioral and electrophysiological measures. The second aim was to identify the conditions in which these ToM disturbances occur and the conditions in which they can be compensated. Our results suggest that (i) ToM difficulties in schizotypy-schizophrenia result from abnormalities in context processing, (ii) these difficulties relate specifically to the updating of the mental states’ representation according to the context, e.g. a mentalizing process underlayed by retroactive contextual strategies known to be altered in schizotypy-schizophrenia, and (iii) structuring the semantic context can improve ToM's abilities in the schizophrenia’s spectrum, while the presence of an unknown co-actor seems to inhibit these abilities. Our results also highlight a link between the participant’s ToM disturbances and their social difficulties. In conclusion, this work indicates the relevance of cognitive remediation programs that target contextual processing in schizophrenia spectrum disorders
Ameller, Aurély. "Les troubles de la familiarité dans la schizophrénie." Phd thesis, Université du Droit et de la Santé - Lille II, 2014. http://tel.archives-ouvertes.fr/tel-01061407.
Full textDondaine, Thibaut. "Approche neuropsychologique des troubles émotionnels dans la schizophrénie." Thesis, Rennes 1, 2014. http://www.theses.fr/2014REN1B008/document.
Full textStabilized schizophrenia is characterized by cognitive and emotional deficits. Recent works adopted a dynamic view of the relationship between cognition; motivation and emotion in schizophrenia. The objective of this work was to describe the impairments of recognition; subjective feelings and physiological reactions related to emotions in stabilized schizophrenia. The influence of cognitive impairment and apathy on the emotional processes was also explored. In a first study on a group of 23 patients with schizophrenia; we highlighted the introduction of bias in the recognition of emotion in two sensory modalities (visual and auditory). In the next study; we investigated the influence of executive function disorders in the subjective feeling of emotions. With film excerpts; we showed that a disorder in executive functions could lead the introduction of a mixed subjective feeling in schizophrenia. Apathy is a common disorder in schizophrenia and may influence emotional processes. In a third study; we investigated the impact of apathy on physiological reactions induced by emotion. We have shown that the severity of apathy was correlated with a decrease in electrodermal activity during induction of positive emotions. The results of these studies show an impact of cognitive and motivational disturbances in emotional processes in stabilized schizophrenia. This work encourages us to explore the neural bases of the interaction between emotion and cognition in schizophrenia. Clinical applications are also discussed
Al, Sagheer Tareq Mohammad. "Déterminants moteurs des troubles du spectre autistiques (TSA)." Thesis, Poitiers, 2017. http://www.theses.fr/2017POIT2311.
Full textAutism spectrum disorders (ASD) are neurodevelopmental disorders associated with persistent disturbances in social communication and repetitive pattern of behavior. Our work is based on the exploration of the motor disorders associated with this pathology, with a working hypothesis that this approach can offer elements of early diagnosis. For this, we used two animal models of prenatal toxicity (E12.5) in mice: following administration of an antiepileptic agent, valproic acid (VPA) or a synthetic analogue of the double-stranded viral RNA polyinosinic-polycytidylic acid (Poly I: C). We carried out a general evaluation of postnatal development and a detailed exploration of sociability and fine motor behavior. Our results show: 1- an early motor and sensorimotor deficits in the VPA model, indicating that this model is appropriate for studying the contribution of motor impairments to the etiology of ASD; 2- differential effects on sociability with regards to sexes; 3- the presence of motor deficits but not of social deficits in females. Our results suggest motor behavior can offer an early and quantitative diagnostic tool for ASD. They pave the way to clinical explorations of these deficits and potentially to therapeutic pathways targeted towards the cerebellum
Bejaoui, Moez. "Troubles cognitifs de la schizophrénie : critères diagnostiques typologiques et multidimensionnels." Aix-Marseille 1, 2006. http://www.theses.fr/2006AIX10027.
Full textGokalsing, Erick. "Les troubles de la conscience de soi dans la schizophrénie." Université Louis Pasteur (Strasbourg) (1971-2008), 2003. https://publication-theses.unistra.fr/public/theses_doctorat/2003/GOKALSING_Erick_2003.pdf.
Full textMaruani, Anna. "Exploration de l'hétérogénéité phénotypique des Troubles du Spectre Autistique." Thesis, Sorbonne Paris Cité, 2018. https://theses.md.univ-paris-diderot.fr/MARUANI_Anna_2_va_20181123.pdf.
Full textAutism Spectrum Disorder (ASD) are defined by persistent deficits in social communication and social interaction as well as by the restricted and repetitive nature of behaviors and interests. This entity covers very heterogeneous clinical situations, as much by the spectrum of severity of symptoms as by the variety of comorbidities and associated signs. If the genetic etiology seems preponderant, the mechanisms involved are complex and heterogeneous. One possible strategy to break down this heterogeneity is to rely on the study of phenotype-genotype relationships and more broadly on the study of phenotypic subgroups such as sensory peculiarities, co-morbidities or neuro-anatomical peculiarities, in order to to define more homogeneous categories. The aim of the thesis was to explore multi-modally the heterogeneity of these disorders.The first part of my thesis focused on the exploration of phenotype-genotype relationships. The first study focused on the exploration of Jacobsen syndrome (JS, 11q24.2-25 deletion) characterized by intellectual disability (ID) and a higher risk of ASD. In this critical region 11q24.2-25, we hypothesized that haploinsufficiency of neurotrimin (NTM) (neuronal cell adhesion molecule) may increase the risk of ASD and may affect volumes of brain structures. In the end, NTM could not be incriminated as a susceptibility gene for ASD, but the explorations provided new information on the impact of the 11q24.2-25 deletion on brain anatomy. Indeed, using automatic segmentation we explored macrocephaly in a patient with a large NTM deletion with NTM and a clinical phenotype of JS: we observed an increased volume of subcortical structures in this patient. But a decrease in the occipital gray matter. The second study focused on the CNTN5 and CNTN6 genes that encode neuronal cell adhesion molecules of the sensory-motor neural pathways. Clinical investigations of patients with deleterious variants of CNTN5 and / or CNTN6 showed that these patients were hypersensitive to sound and that their auditory evoked potentials (ABRs) showed changes in latency. These results shed new light on genes related to sensory peculiarities in ASDs. I will present the preliminary results of a third linkage study in a multiplexed family with TSA and synesthesia.In the second part of the thesis, I will expose an exploratory study in which we hypothesized that the lowered plasma concentrations of melatonin observed in our ASD patients (vs controls and related) could be related to a decrease in the volume of the pineal gland (PGV). The PGV were measured with a voxel-based volumetric measurement method from magnetic resonance imaging (MRI). To better understand the relationship between VGP and plasma melatonin levels in our population, we generated a normative model. The melatonin deficiency seemed more related to the subject's status with respect to ASD than to VGP. This study led us to hypothesize that melatonin variations in ASD may be mainly caused by deregulation of the melatonin pathway.In conclusion, all of this work shows the importance of a multimodal approach for understanding ASD to open new avenues in terms of therapeutic strategy
Khidichian, Frédéric. "Troubles de l'attention et schizophrénie : résultats d'une étude sur 40 cas." Strasbourg 1, 1992. http://www.theses.fr/1992STR1M189.
Full textPieron, Marie. "L'inhibition de retour saccadique dans les troubles du spectre autistique." Paris 6, 2013. http://www.theses.fr/2013PA066567.
Full textIn autism spectrum disorders (ASD), visual perception is atypical both in terms of low-level perceptual surfunctioning and perceptual deficits for high-level operations. This phenomenon induces consequences on the triad of symptoms found in ASD: impairments in communication and social interactions and restricted/repetitive behaviour. In order to explore the relationship between oculomotor system, attention, visual perception and this triad, I have worked on the saccadic inhibition of return (IOR), a low-level visual phenomenon. First, I studied the time course of saccadic IOR. Results of this study showed earlier saccadic IOR effect in autistic individuals compared to typically developed individuals (TD). Indeed, saccadic IOR occurred for a stimulus onset asynchrony shorter in autistic individuals while it occurred later in TD individuals. These findings reflect a visual search that is more oriented toward novelty in the visual environment in autistic individuals. This is an advantage in visual search tasks, in which autistic individuals showed better performance and could be considered as one of the attention mechanisms underlying these performances. Secondarily I analysed the influence of directional change of gaze on the IOR. The results showed that saccadic IOR effect is present in both TD and autistic groups. All together these results showed that the saccadic IOR effect is present in individuals with ASD, with both non-social and social peripheral cues
Yousfi, Chaymae. "Prédiction de troubles psychiatriques à partir des trajectoires neuro-développementales et des déterminants génétiques chez les enfants génétiquement à risque." Master's thesis, Université Laval, 2020. http://hdl.handle.net/20.500.11794/67984.
Full textSchizophrenia and bipolar disorder are major psychiatric disorders weighing colossally in economic, social and human terms, generally leading to the marginalization of the affected population, mainly in the absence of psychosocial and family therapies. This thesis is devoted to study and predict the development of these psychiatric disorders using neuro-developmental trajectories and genetic determinants for children at genetic risk of schizophrenia (SZ) and bipolar disorder (BP), i.e. those who are born to a parent affected by these illnesses. The main aim is to develop a predictive tool involving genetic risk scores and risk indicators, which may be useful in the intervention in the primary care clinic to distinguish the most offspring at risk of later transition to these disorders among the high-risk children born to a parent affected. The use of joint latent class mixed modeling (JLCM) of time-to-event and the evolution over time of several longitudinal outcomes, while taking into account the confounding variables effects was necessary for the study of a sample of 67 children from the population of Eastern Quebec to be stratified, after having presented theoretically their mathematical basis and examined empirically their identifiability.
Garnier, Laetitia. "Sommeil et troubles du spectre de l'autisme : caractérisation des troubles du sommeil dans une approche développementale." Thesis, Toulouse 2, 2013. http://www.theses.fr/2013TOU20009.
Full textThe first part of this study was interested in the characteristics of sleeping disorders in a comparative and developmental approach with a population of children with autism and healthy controls, aged 2-12 years. The results find a higher prevalence within the population with autism and would indicate that its can intrinsically bound to the autistic disorders with a peak of the emergences estimated around 3-4 years. The sleep disturbances are not significantly linked in a set of factors nevertheless found correlated within the population control (age, duration, family events, sibship). This study also makes the report of a lack in the follow-up and the coverage of the difficulties of sleep.The second part of the research was studied the existing relations between the sleep problems (parasomnias, respiratory disorders and dyssomnias) Its would seem to participate in the perseveration of the problems of sleep at the child with autism, from the youngest age. The thrid part analyses the role of the sleep habits in the sleep problems at the child with autism. The functionning of the child with autism seem to participate in the maintenance of sleep problems
Boisgontier, Jennifer. "Corrélats anatomo - fonctionnels de la vulnérabilité aux troubles du spectre autistique." Thesis, Paris Est, 2016. http://www.theses.fr/2016PESC0074/document.
Full textAutism Spectrum Disorder (ASD) are neurodevelopmental disorders highly heritable.In parallel, the underconnectivity theory of ASD assumes that fronto-posterior brain disconnectivity is at the core of its pathophysiology. Our goal was to assess long-range structural and functional connectivity in unaffected parents of subjects with ASD to better understand the contributions of familial factors to heightened risk of ASD. We performed a diffusion weighted imaging (DWI) based whole brain tractography to compare generalized fractional anisotropy (gFA) in the main deep long white matter tracts in 85 adults: 39 unaffected parents, 18 probands compared to 28 controls. After corrections for multiple comparisons, we identified a significant decrease in gFA in the bilateral inferior frontal occipital fasciculus (IFOF) in both probands with ASD and unaffected parents when compared to controls. To understand the functional implication of fronto – occipital anatomical disconnectivity, we assessed the functional connectivity between the regions linked by IFOF exhibiting significant alterations in gFA. We also showed that both probands and unaffected parents exhibited a significantly increased functional connectivity between the frontal and occipital regions linked by the IFOF. In order to better understand and extend this interesting results, to evaluate the global functional connectivity of our sample in order to be able to interpret the increase of fronto-occipital functional connectivity would be an important perspective. These findings highlight an altered fronto-occipital connectivity in subjects with ASD and unaffected parents suggesting that fronto-occipital disconnectivity may be an endophenotype of ASD
Bennabi, Meriem. "Caractéristiques immunogénétiques et immuno-inflammatoires des troubles du spectre autistique (TSA)." Thesis, Sorbonne Paris Cité, 2017. http://www.theses.fr/2017USPCC017.
Full textAutism spectrum disorders (ASD) are severe neurodevelopmental conditions characterized by deficits in communication and social interactions, and by repetitive and stereotyped behaviors and exhibiting a constant increase in terms of prevalence. Affecting ages ranging from the early post-natal period to adulthood, ASD are clinically heterogeneous and often associated with psychiatric and somatic comorbidities underlying, in part, by immune dysfunctions. In this context, we thus focused our attention on the analysis of immunogenetic and immunological characteristics potentially implicated in the disease risk and/or in the modulation their clinical phenotype. More precisely, we evaluated the potential implication of the genetic diversity of molecules involved in innate (PRR, CLR, Dectin-1) and adaptive (HLA) immune responses in disease risk. We then analyzed the phenotypic and functional characteristics of Natural Killer cells in patients with ASD, investigating their influence on the permanent inflammatory state often reported in ASD settings.On the immunogenetic point of view, we found that the genetic diversity of Dectin-1 (CLEC7A), a candidate selected because of its involvement in the modulation of intestinal microbial disorders, was associated with Asperger syndrome, a clinical form of ASD. We observed that the CLEC7A genotype rs2078178 GG and the rs2078178 / rs16910631 GG /GG haplotype were not only more frequent in Asperger but also associated with IQ scores.In terms of HLA diversity, we identified a risk haplotype (HLA-DRB1 * 11-DQB1 * 07) and a protective haplotype (HLA-DRB1 * 17-DQB1 * 02). The risk haplotype was also found to be associated with disease’s severity as reflected by unfavorable scores in the psychiatric clinical scales tested.In the second part of this thesis, we explored the phenotypic and functional modifications of CD3-CD56 + NK cells in patients with high-functioning autism. We observed a permanent cell activation state concomitant with spontaneous degranulation capacity, sustained IFN-? production and cellular hypofunction /exhaustion after in vitro stimulation. In addition, we identified a specific cluster of NK cells, based on the HLA-DR, NKG2C, and KIR2DL1 parameters, and we observed an unexpected increase of NK NKG2C + cells in ASD subjects independent of CMV infection. Finally, we observed that the expression of KIR2DL1 and HLA-DR were respectively correlated with the scores of IQ and those evaluating the CCA-LS and SAWR scales.Taken together, these data could contribute to a better knowledge of the pathophysiological mechanisms associated with the immune system in ASD and consequently to a better categorization of the groups of patients likely to benefit from targeted immunological therapeutic strategies
Carton-Buonafine, Coralie. "Architecture génétique des troubles du spectre autistique dans les îles Féroé." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC117/document.
Full textAutism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders characterized by deficits in social interaction and communication as well as the presence of repetitive behaviors and restricted interests. ASD affects approximately one in 68 individuals. They usually occur during the first three years of life but, in some cases, symptoms are recognized later, when social demands increase. There is a strong genetic component to ASD, as indicated by the recurrence risk in families and twin studies. However, the genetic architecture of ASD remains largely unknown because of its extreme heterogeneity. It is very challenging to identify, for each patient, the combination of risk alleles. Our laboratory identified the first genetic pathway associated with ASD – the NLGN-NRXN-SHANK pathway – playing a key role in synaptogenesis during development. There are an increasing number of genes associated with ASDs but few studies have been conducted on epidemiological cohorts and isolated populations. Here, we investigated 357 individuals from the Faroe Islands including 36 patients with ASD, 136 of their relatives and 185 non-ASD controls. Data from SNP array and whole exome sequencing revealed that patients had a higher burden of copy-number variants, higher inbreeding status, higher load of homozygous deleterious mutations, and a higher ASD polygenic risk score compared to controls. We confirmed the role of several ASD-associated loci (NRXN1, ADNP, 22q11 deletion) and identified new truncating (GRIK2, ROBO1, NINL and IMMP2L) or recessive variants (KIRREL3 and CNTNAP2) affecting genes already associated with ASD. We have also identified three novel candidate genes playing key roles in synaptic plasticity (RIMS4, KALRN and PLA2G4A) carrying deleterious de novo mutations in patients without intellectual disability. Overall, for 11% of individuals with ASD, a known genetic cause was identified, for 39% at least one strongly deleterious mutation was identified in a compelling candidate gene and for 50% no obvious genetic cause was detected. In summary, our study provides a better understanding of the genetic architecture of ASD in isolated populations by highlighting both the impact of common and rare variants but also by revealing the role of new genes for ASD. These genes code for proteins that are essential for neurodevelopment. The identification of these factors involved in synapse formation and maintenance could provide new leads to better understand the biological basis of ASD and find novel therapeutic strategies. However, it is necessary to further understand the combined impact of different mutations on neuronal function in order to better characterize the genetic architecture of ASD
Ducato, Maria Giovanna. "Vulnérabilité psychométrique du traitement de l'information visuelle et des troubles attentionnels dans la schizophrénie." Lille 2, 2006. http://www.theses.fr/2006LIL2S062.
Full textBesche-Richard, Chrystel. "Contribution à la connaissance du fonctionnement des traitements cognitifs élémentaires dans la schizophrénie : étude des processus contrôlés et de traitement du contexte dans les domaines langagier et mnésique." Paris 8, 1997. http://www.theses.fr/1997PA081292.
Full textOur aim was to clarify the functioning of the controlled processes of context in schizophrenic patients with two experimental paradigms: the lexical decision task with semantic or syntactic context (double lexical decision or lexical decision with 500 ms-soa) and implicit/explicit memory tasks (category production task). In a first part of our thesis, we specify the theoritical framework in which this work was conducted: the cognitive neuropsychology which tends to explain the symptomatology of schizophrenia but not the schizophrenic syndrome. The pattern that we will explain was the schizophrenic desorganization caracterized by the presence of formal thought disorders (ftd). We present successively the psychiatric conception of schizophrenia and then the studies conducted in the fields of language and memory in psychology, psychopathology and neuropsychology. Our experimental results demonstrate: first, the processing of syntactic contextual informations was preserved in schizophrenic patients; secondly, only the processing of semantic contextual informations was neglected by schizophrenic patients with ftd; thirdly, this cognitive abnormality can be corrected whether by clarifying the experimental instructions of the lexical decision task, whether by increasing the proportion of pairs of words with semantic links whether by using double lexical decision tasks. Finally, the memory tasks showed that only the explicit exploitation of context produced the worse performance in schizophrenic subjects with ftd than in the control subjects. Our results show that the best cognitivo-clinical correlation was the pattern of ftd that is linked with difficulties for these patients to process context. The nature of this cognitive abnormality is functional
Verdoux, Hélène. "Modèles animaux des schizophrénies et des troubles de l'humeur." Bordeaux 2, 1990. http://www.theses.fr/1990BOR23005.
Full textProuteau, Antoinette. "Les relations entre cognition et fonctionnement psycho-social dans la schizophrénie." Bordeaux 2, 2004. http://www.theses.fr/2004BOR21115.
Full textSchizophrenia is one of the most frequent and disabling mental disease. Thus, clinical research needs to better describe clinical markers of community functioning and quality of life in schizophrenia. The aim of the present work was to explore the specific relationships between cognition and psychosocial functioning dimensions among patients with schizophrenia far from acute psychotic episode and participating in a rehabilitation program. The results suggest that complex cognitive functions (memory, attentional control) are more particularly associated with psychosocial functioning improvement over the time, especially in dimensions such as daily life activities and social competences. Clinical implications of the findings are discussed in terms of cognitive assessment and cognitive training usefulness in rehabilitation of persons suffering from schizophrenia
Brosseau, Josée. "Schizophrénie et perception du temps : une méta-analyse." Doctoral thesis, Université Laval, 2016. http://hdl.handle.net/20.500.11794/27185.
Full textBitar, Tania. "Etude épidémiologique, génétique et métabolomique des Troubles du Spectre Autistique au Liban." Thesis, Tours, 2018. http://www.theses.fr/2018TOUR3307/document.
Full textThe etiology of autism spectrum disorders (ASD) is multifactorial involving a strong genetic component as well as environmental factors. To date, there is no biomarker facilitating early diagnosis of ASD to improve patient management and outcomes. In addition, the physiopathological mechanisms are still poorly understood. Most studies on ASD have been conducted in Western populations. Thus, we wanted to study a group of Lebanese patients with ASD. Our objectives focus around three aspects: 1) The identification of environmental risk factors in order to better understand the pathology. The results of this study showed that several factors such as consanguinity, stress during pregnancy and prematurity appear to be risk factors. 2) The identification of structural variations in the genome of children with ASD in order to evaluate the contribution of CNV by high resolution CGH array approach. This study allowed us to identify new genes in ASD as well as to confirm the presence of regions and genes already cited in previous ASD studies. 3) The identification of metabolites and associated metabolic pathways to provide biomarkers for early diagnosis and to better understanding of the pathophysiology of the disease. New metabolites have been identified and we have confirmed variations already mentioned in the literature concerning certain metabolites that could represent robust markers of the disease
Bitar, Tania. "Etude épidémiologique, génétique et métabolomique des Troubles du Spectre Autistique au Liban." Electronic Thesis or Diss., Tours, 2018. http://www.theses.fr/2018TOUR3307.
Full textThe etiology of autism spectrum disorders (ASD) is multifactorial involving a strong genetic component as well as environmental factors. To date, there is no biomarker facilitating early diagnosis of ASD to improve patient management and outcomes. In addition, the physiopathological mechanisms are still poorly understood. Most studies on ASD have been conducted in Western populations. Thus, we wanted to study a group of Lebanese patients with ASD. Our objectives focus around three aspects: 1) The identification of environmental risk factors in order to better understand the pathology. The results of this study showed that several factors such as consanguinity, stress during pregnancy and prematurity appear to be risk factors. 2) The identification of structural variations in the genome of children with ASD in order to evaluate the contribution of CNV by high resolution CGH array approach. This study allowed us to identify new genes in ASD as well as to confirm the presence of regions and genes already cited in previous ASD studies. 3) The identification of metabolites and associated metabolic pathways to provide biomarkers for early diagnosis and to better understanding of the pathophysiology of the disease. New metabolites have been identified and we have confirmed variations already mentioned in the literature concerning certain metabolites that could represent robust markers of the disease
Barthélémy, Sophie. "La gestion des affects dans la schizophrénie : entre intrapsychique et interaction." Aix-Marseille 1, 2006. http://www.theses.fr/2006AIX10087.
Full textGiudicelli, Laurence. "Trouble schizo-affectif : étude de l'évolution et état actuel du concept." Bordeaux 2, 1993. http://www.theses.fr/1993BOR23056.
Full textVandamme, Michel Jacques. "Pertinence d'une approche biosociale de la personnalité dans la compréhension du comportement violent individuel : application à des patients schizophrènes et des patient dépendants à des substances." Lille 3, 2006. http://www.theses.fr/2006LIL30058.
Full textAmong the risk factors of violent behaviour, it is frequent to count personality disorders, schizophrenia, and substance abuses. The association of these variables would be a particular factor of major risk of violent behaviour. To take into account the biological and/or social influence on the emergence or the expression of these psychopathological disorders, a dimensional and biosociale approach of the personality appears useful to apprehend individual violence. Violent schizophrenic patients have a characteristic character dimension of Self-Transcendence. A pathology of the personality, less antisocial than borderline, would be checked among violent schizophrenic patients and among violent imprisoned patients with former substance abuse. These dimensions would reveal that the individual violent behaviour is more related to a particular profile of personality and would be more one defect of social inhibition that biological one
Peyroux, Elodie. "Remédiation des troubles de la cognition sociale dans la schizophrénie et les troubles apparentés : le programme RC2S : études de cas uniques." Thesis, Lyon 2, 2014. http://www.theses.fr/2014LYO20124/document.
Full textIn people with psychiatric disorders, particularly those suffering from schizophrenia and related illnesses, pronounced difficulties in social interactions and adaptation are a key manifestation. These disabilities, which are a serious impediment to psychosocial rehabilitation process, could be partly explained by impairments in processes grouped under the generic term of social cognition. Social cognition is defined as the ability to construct mental representations about others and oneself, and about one’s relationships to others, and to use these representations in a flexible way to guide social behavior. It includes abilities such as emotion processes, theory of mind (ToM), attributional style, and social perception and knowledge. In schizophrenia and related disorders, several components of social cognition are usually altered, and are strongly associated with functional outcome and independent but partly related to neurocognitive processes. The impact of several kinds of interventions and particularly of social cognitive remediation programs has been studied recently, and new strategies and programs in this line are currently being developed. The main objective of this doctoral thesis was to assess the feasibility of improving social cognition in people with psychotic disorders, using a cognitive remediation program specifically designed for this purpose, the RC2S program. Considering that the social cognitive deficits experienced by patients with schizophrenia are very diverse, and that the main objective of social cognitive remediation is to improve patient’s functioning in their social daily life, RC2S was developed as an individualized and flexible program, which allows patients to practice social interactions in a realistic environment, and to adapt therapy to the specificity of every patient’s profile. This manuscript present three single case studies, using specific methodology, to highlight the impact of this new therapy on social cognitive impairments of two people with schizophrenia and one patient with schizoid personality disorder
Alary, Mathieu. "Latéralité manuelle et spécialisation hémisphérique pour le langage dans la schizophrénie." Caen, 2012. http://www.theses.fr/2012CAEN3140.
Full textCrow’s hypothesis, which supports the idea that schizophrenia may be characterized by a decrease of hemispheric specialization for language, is the starting point of this work. In a first study, we investigate the strength of manual lateralization including familial sinistrality in patients with first episode schizophrenia. We found that there were fewer participants with a strong manual preference among patients than among controls. In a second study, using functional cerebral imagery, we evaluate directly the leftward hemispheric lateralization for language. A reduced functional lateralization for language in patients with schizophrenia compared to controls is shown. No relationship between anatomical and functional asymmetry in patients with schizophrenia is reported. Our last study supports the hypothesis that reduced hemispheric asymmetry may be a biological marker for schizophrenia. This study shows a reduction of leftward functional lateralization for language in patients with schizophrenia compared to patients with bipolar disorders and healthy controls subjects. This work supports the idea that the reduction of both manual lateralization and leftward hemispheric specialization for language is present from the beginning of the disease and may be a biological marker for schizophrenia
Gilbert, Elsa. "La mémoire épisodique et le fonctionnement social dans les troubles du spectre autistique." Thesis, Université Laval, 2011. http://www.theses.ulaval.ca/2011/28214/28214.pdf.
Full textLeblond, Claire. "Shank2 : un nouveau gène impliqué dans la vulnérabilité des troubles du spectre autistique." Paris 7, 2011. http://www.theses.fr/2011PA077215.
Full textAutism spectrum disorders (ASD) are characterized by deficits in social communication, absence or delay in language, and repetitive and stereotyped behaviours. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions wit other genetic variations. Following the discovery of two de novo SHANK2 deletions by the Autism Genom Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequence SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berke et al. 2010 (n=396 patients and n=659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 out of 851 patients (3. 4%) and in 16 out of 1090 controls (1. 5%) (P=0. 00 OR=2. 37, 95% CI=1. 23-4. 70). In neuronal cell cultures, the variants identified in patients were associated wit a reduced synaptic density at dendrites compared to the variants only detected in controls (P=0. 0013 interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15qll-ql previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will necessary to understand the complex inheritance pattern of ASD
Landgraf, Steffen. "Cognitive Markers in Psychosis : reference Frames in Spatial Cognition and Visual Scanning-Strategies as Stage Markers in Schizophrenia." Paris 6, 2010. http://www.theses.fr/2010PA066198.
Full textGay, Olivier. "Marqueurs neurodéveloppementaux en psychiatrie : intérêt dans les troubles schizophréniques." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB016/document.
Full textThe term neurodevelopment in its broadest sense refers to all of the processes encompassing development of the nervous system from the earliest stages of formation in utero to later stages of maturation during adolescence to produce the fully functional adult nervous system. Work over the last thirty years has led to a neurodevelopmental model of human psychiatric disorders, including schizophrenia, based on genetic, epidemiological and imaging evidence. This model asserts that disease is fundamentally linked to or develops from abnormality(s) in the formation processes (early neurodevelopment) and maturation (late neurodevelopment) of the nervous system due to a combination of genetic and environmental factors. In this context this thesis aims to clarify the effects of neurodevelopmental abnormalities on psychiatric disorders, including schizophrenia, through the study of different markers. The first study aims to investigate correlations between markers of early brain development: a clinical marker (neurological soft signs) and an imaging marker (sulcation of the cerebral cortex) in a population of subjects with schizophrenia. A correlation between these two markers is presented: the sulcation index was found to be lower in subjects that had significant neurological soft signs. We concluded that the combined study of different markers may help to isolate subgroups of patients with greater early neurodevelopmental damage. The second study aims to characterize effects of different markers of early neurodevelopmental abnormalities on cognitive functioning in patients with schizophrenia. Effects on executive control (as measured by the Trail Making Test) were correlated with clinical markers (neurological soft signs, handedness) and imaging (sulcation of the anterior cingulate cortex and enlargment of the ventricles). We found interactions between different markers with a mainly non-linear summation effect. Our interpretation is that different markers reflect separate insults, though all early, on brain development with a common final effect on executive function. The third study aims to clarify the specificity of sulcation as a marker of early neurodevelopmental abnormalities by studying a population of adult subjects with autism spectrum disorder (ASD), a patholody beginning in early childhood and linked with evidence of early neurodevelopmental damage. Sulcation abnormalities of the anterior cingulate cortex, similar to those observed in patients with schizophrenia are detected in patients with ASD. These results suggest early neurodevelopmental abnormalities are shared by different psychiatric disorders and that changes in cortical sulcation are not specific to a given disorder but the early damage. In conclusion, we suggest that the study of neurodevelopmental abnormalities should be integrated into a dimensional approach in psychiatry
Létourneau, Karine. "Le traitement pharmacologique des déficits neurocognitifs associés à la schizophrénie et aux troubles psychotiques apparentés." Thesis, Université Laval, 2009. http://www.theses.ulaval.ca/2009/26327/26327.pdf.
Full textGirard, Caroline. "Caractérisation clinique et cognitive des troubles psychotiques d'apparition tardive." Thesis, Université Laval, 2011. http://www.theses.ulaval.ca/2011/27942/27942.pdf.
Full textPoulet, Emmanuel. "Stimulation magnétique transcrânienne et hallucinations auditives dans la schizophrénie : effets cliniques, cognitifs et électrophysiologiques." Lyon 1, 2007. http://www.theses.fr/2007LYO10310.
Full textAuditory verbal hallucinations (AVH) are a frequent, invalidating and sometimes resistant symptom. Functional brain imaging studies have demonstrated blood flow activation in left temporoparietal auditory-linguistic cortex during AVH experience. Transcranial Magnetic Stimulation is a non-invasive method of stimulating the brain that is increasingly being used in neuropsychiatric research and clinical psychiatry. Low frequency (<1Hz) repetitive Transcranial Magnetic Stimulation (r TMS) reduces activation in the brain area directly stimulated as well as in other fuctionally connected brain areas. Considered together, these two findings suggest that low frequency r TMS delivered to the left temporoparietal cortex would curtail auditory hallucinations by reducing excitability of distributed neurocircuits that produce these experiences. We developed several research works to test the r TMS as a new HAs treatment and to maintain this effect for a long time. We also studied the effect of this treatment on a source memory test. In this review, we present 4 published articles which show effects of the r TMS in this indication and let us appoach other research perspectives in electrophysiology but also in other areas
Georgieff, Nicolas. "Éléments d'une approche théorique et expérimentale cognitive du langage en psychopathologie." Lyon 1, 1993. http://www.theses.fr/1993LYO1T143.
Full textBrunelin, Jérôme. "Vulnérabilité à la schizophrénie : approche clinique, cognitive et neurophysiologique de la dimension positive." Lyon 1, 2007. http://www.theses.fr/2007LYO10314.
Full textAn enhanced response to stress in interaction with vulnerability degree is thought to play an important role in the onset of psychotic symptoms of shizophrenia. Using various means of study (response to stress, PET, rTMS, behavioural task) we highlighted : 1) a biological vulnerability marker : an hyperreactivity to stress (dopaminergic and corticotrope) in patients with schizophrenia and their unaffected siblings (subjects at the "high genetic risk" - SHR) compared with healthy volunteers ; 2) that the absence of clinical expression in SHR could be explained by the presence of a protective biological factor ; 3) a coginitive vulnerability marker positively correlated with psychotics symptomes/traits in patients and SHR (intermediate marker, possible marker of transition). These results constitute a fundamental stage from the point of view of an early intervention aiming at preventing the risk of schizophrenia
Nascimento, Stieffatre Marli Aparecida. "Maladie mentale et résilience : la réinsertion socioprofessionnelle des personnes souffrant de troubles mentaux graves." Paris 8, 2009. http://www.theses.fr/2009PA083605.
Full textThe study of resilience in people with mental disorders begun since few years and publications are scarce. The psychological dysfunction is now considered as an evidence that protective factors were absent or unable to prevent the occurrence of mental disorders. However, this not imply that is impossible to develop in psychiatric patients capacities that may facilitate the implementation of the process leading to a better adaptation, to resilience. Retrospective study of 267 files, discussions with professionals working in the field of the rehabilitation, semi-directive interviews with patients and the administration of a self esteem scale showed that that implementation of the resilience process is possible. Results showed also that early traumatic events are related to poorer outomes. On the other hand, people with higher self esteem, with the feeling that they control theirs functioning and their environment, give a sense to their life and make plans for the future. The analysis of individual dynamics allowed the identification of the resilience process stages. The present dissertation proves the relevance of the resilience theory for the care and the follow-up of the psychiatric patients
Plaze, Marion. "Imagerie des hallucinations auditives dans la schizophrénie : de la phénoménologie au développement cérébral." Paris 6, 2010. http://www.theses.fr/2010PA066230.
Full textSerres, Florence. "Etude du transport membranaire érythrocytaire du tryptophane dans les troubles dépressifs et schizophréniques, et des récepteurs 5HT2 plaquettaires dans les troubles dépressifs." Aix-Marseille 3, 1996. http://www.theses.fr/1996AIX30019.
Full text