Event-related potential alterations in fragile X syndrome

Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability (ID), associated with a wide range of cognitive and behavioral impairments. FXS is caused by a trinucleotide repeat expansion in the FMR1 gene located on the X-chromosome. FMR1 is expected to prevent the expression of the “fragile X mental retardation protein (FMRP)”, which results in altered structural and functional development of the synapse, including a loss of synaptic plasticity. This review aims to unveil the contribution of electrophysiological signal studies for the understanding of the information processing impairments in FXS patients. We discuss relevant event-related potential (ERP) studies conducted with full mutation FXS patients and clinical populations sharing symptoms with FXS in a developmental perspective. Specific deviances found in FXS ERP profiles are described. Alterations are reported in N1, P2, Mismatch Negativity (MMN), N2, and P3 components in FXS compared to healthy controls. Particularly, deviances in N1 and P2 amplitude seem to be specific to FXS. The presented results suggest a cascade of impaired information processes that are in line with symptoms and anatomical findings in FXS

Conservation génétique du chevalier cuivré (Moxostoma hubbsi) : effet tampon du temps de génération sur l'érosion de la diversité génétique

La constante hausse d’activités humaines, provoquant la destruction des habitats naturels, a mené à l’extinction de plusieurs espèces. La diversité génétique jouant un rôle primordial dans le potentiel évolutif d’une espèce, la conservation génétique fournit de plus en plus d’outils pour préserver la biodiversité. Le Chevalier cuivré (Moxostoma hubbsi), espèce menacée exclusive au Québec, a une distribution extrêmement restreinte, limitée à la Rivière Richelieu et à une courte section du fleuve Saint-Laurent. Etonnamment, cette population unique et vieillissante possède un niveau de diversité génétique très élevé sans signe apparent de consanguinité, alors que son histoire démographique récente ainsi que les divers estimés de taille effective suggèrent un déclin graduel échelonné sur une longue période temporelle. Les résultats de ce mémoire mettent en évidence le potentiel des données génétiques dans un plan de rétablissement et identifient certains facteurs pouvant influencer l’impact génétique d’une réduction de taille chez les espèces à long temps de génération.Increasing human activities have caused destruction and fragmentation of natural habitats, leading to the extinction of many species. Since genetic diversity plays an important role in the evolutionary potential of a species, conservation genetics is increasingly providing adequate tools needed towards the preservation of biodiversity. The Copper redhorse (Moxostoma hubbsi), an endangered species of Québec, has an extremely restricted distribution, limited to the Richelieu River and a short section of the St.Lawrence River. Surprisingly, this unique and ageing remaining population exhibits a high level of genetic diversity without sign of inbreeding, where recent demographic history and effective population size estimates suggest a gradual demographic decline scaled on a large time period. Our results clearly demonstrate the potential of genetic data towards effective conservation, as well suggesting that long generation times may act as a buffering effect contributing to reduce the pace of genetic diversity erosion in threatened species

Histoire critique de la transition entre paléolithiques moyen et supérieur en archéologie préhistorique française, des origines à la seconde moitié du XXe siècle

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal

Nature, culture et progrès : histoire comparative du concept de transition entre paléolithiques moyen et supérieur en archéologie préhistorique

Doctorat effectué en cotutelle Pour le département d'histoire de l'Université de Montréal, M.M. Jacques G. Ruelland et Othmar Keel, Pour le laboratoire P.A.C.E.A.– U.M.R. 5199. C.N.R.S., de l'École doctorale des sciences Terre-Mer, directeurs successifs, M. P.-Y. Demars, puis M. Michel Lenoir. Thèse soutenue à Bordeaux le 6 juin 2012.Cette thèse a pour objectif d’étudier sur le plan historique une controverse scientifique persistante en préhistoire : le problème de la transition entre Paléolithiques moyen et supérieur, en tentant d’en expliquer la durée en termes de construction et de transformation des modèles antagoniques, ainsi que le rôle de cette controverse dans l’acquisition de connaissances, afin d’élucider comment s’est produit le déplacement des enjeux que présente son état actuel. Il s’agit de dresser un historique de la controverse entourant la transition entre Paléolithiques moyen et supérieur afin de circonscrire sur le plan chronologique les persistances et l’évolution des positions antagonistes dans leurs composantes épistémologiques. Pour clarifier cette démarche, il faut d’abord caractériser ce qui constitue cette controverse particulière pour les préhistoriens à l’aide de l’apport de l’histoire des sciences, et quelle méthode d’analyse sera utilisée dans le présent travail. Il sera ainsi possible de relier ces éléments au problème scientifique choisi comme sujet d’étude, présenté dans ses caractères généraux et spécifiques, pour modéliser la définition structurale des modèles explicatifs protagonistes au débat sur la transition entre Paléolithiques moyen et supérieur. La méthodologie proposée sera ensuite appliquée à la controverse, pour découper son déroulement chronologique en trois phases historiques distinctes par leur axe de recherche spécifique, chacune des phases étant décrite sur trois niveaux structuraux (données et méthodologie, paradigmes opératoires, paradigme métaphysique), afin d’isoler les constantes et les inflexions, et d’établir un modèle explicatif de sa dynamique historique jusqu’à son état actuel. L’ambition de cette thèse est de s’appuyer sur l’histoire des sciences pour clarifier sur le plan théorique pour les préhistoriens la dynamique historique de cette controverse centrale à l’étude du changement culturel en préhistoire, et des modèles qui s’y confrontent toujours, et tenter, à partir de l’étude de ce problème d’archéologie préhistorique, d’ébaucher en retour un modèle historique et structural d’étude de cas d’une controverse spécifique et de son apport au niveau du changement conceptuel en science qui pourrait être utile à l’histoire des sciences.This thesis’ main object is to study on an historical level a long-lasting scientific controversy in Prehistoric archaeology, the Middle to Upper Palaeolithic transition, by attempting to explain the persistence of that debate in terms of construction and transformation of antagonistic models of explanation, and by showing how that controversy had play a role on the acquisition of knowledge, to elucidate how the debate itself had change since its origin. On a chronological scale, the evolution of some epistemological elements inside the confrontation of opposed hypothesis could be contrasted with conservative notions. To make that process clear, it is necessary to characterize what constitute that specific controversy for prehistorians with the tool given by the history of sciences, and what kind of analytical methodology can be call upon for doing so. Then, it will be possible to link those elements with the scientific problem itself to establish a structural model of this debate’s theoretical positions of the protagonists. This methodology could then be use to separate the history of that debate in three sections, each with its specific research axis, each phase in three structural level (data and methods, paradigms, meta-paradigm) to create a general model of the evolution of that controversy. The ambition of that thesis is to use history of science’s contribution as a way to clarify on a theoretical level the goals of that debate, and its implication on the study of cultural change for prehistorical archaeologists community, and to initiate for science’s historians a historical and structural model of scientific controversies, and their weight on conceptual change base on a specific case study

Développement cérébral normal et convulsions fébriles : étude d'électrophysiologie visuelle

Thèse numérisée par la Direction des bibliothèques de l'Université de Montréal

Differential Maturation of Brain Signal Complexity in the Human Auditory and Visual System

Brain development carries with it a large number of structural changes at the local level which impact on the functional interactions of distributed neuronal networks for perceptual processing. Such changes enhance information processing capacity, which can be indexed by estimation of neural signal complexity. Here, we show that during development, EEG signal complexity increases from one month to 5 years of age in response to auditory and visual stimulation. However, the rates of change in complexity were not equivalent for the two responses. Infants’ signal complexity for the visual condition was greater than auditory signal complexity, whereas adults showed the same level of complexity to both types of stimuli. The differential rates of complexity change may reflect a combination of innate and experiential factors on the structure and function of the two sensory systems

The quantitative genetics of incipient speciation: Heritability and genetic correlations of skeletal traits in populations of diverging favia fragum ecomorphs

Recent speciation events provide potential opportunities to understand the microevolution of reproductive isolation. We used a marker-based approach and a common garden to estimate the additive genetic variation in skeletal traits in a system of two ecomorphs within the coral species Favia fragum: a Tall ecomorph that is a seagrass specialist, and a Short ecomorph that is most abundant on coral reefs. Considering both ecomorphs, we found significant narrow-sense heritability (h 2) in a suite of measurements that define corallite architecture, and could partition additive and nonadditive variation for some traits. We found positive genetic correlations for homologous height and length measurements among different types of vertical plates (costosepta) within corallites, but negative correlations between height and length within, as well as between costosepta. Within ecomorphs, h 2 estimates were generally lower, compared to the combined ecomorph analysis. Marker-based estimates of h 2 were comparable to broad-sense heritability (H) obtained from parent-offspring regressions in a common garden for most traits, and similar genetic co-variance matrices for common garden and wild populations may indicate relatively small G × E interactions. The patterns of additive genetic variation in this system invite hypotheses of divergent selection or genetic drift as potential evolutionary drivers of reproductive isolation. © 2011 The Author(s). Evolution© 2011 The Society for the Study of Evolution

Could we use parent report as a valid proxy of child report on anxiety, depression, and distress? : a systematic investigation of father–mother–child triads in children successfully treated for leukemia

Background Systematic assessment of emotional distress is recommended in after care. Yet, it is unclear if parent report may be used as a proxy of child report. The aim of this study was to assess agreements and differences and explore possible moderators of disagreement between child and parent ratings. Methods Sixty‐two young survivors treated for acute lymphoblastic leukemia (9–18 years) and both parents responded to the Beck Youth Inventory (anxiety and depression) and the distress rating scale on the child's status. Parents completed the Brief Symptom Inventory‐18 on their own psychological status. Systematic analyses of agreement and differences were performed. Results Mother–child and father–child agreements were fair on anxiety, depression, and distress (median intraclass correlation coefficient = 0.37). Differences between parents and children were medium sized (median d = 0.55) with parents giving higher scores than their children on anxiety, depression, and distress. Mothers reported distress more frequently than fathers (39 vs. 17%) when children reported none. The child being female and lower parental income were associated with lower agreement in fathers when rating child distress. Higher levels of parental psychological symptoms were consistently associated with lower agreement. Conclusions Parent–child differences when rating adolescent survivors’ difficulties may be more important than previously thought. Parent report probably cannot be considered as a valid proxy of older child report on such internalized domains as anxiety, depression, or distress in the after‐care clinic. Parents’ report is also likely to be influenced by their own mood, a factor that should be corrected for when using their report

Prolonged and unprolonged complex febrile seizures differently affect frontal theta brain activity

Objective: Studies have identified persistent cognitive and functional deficits, which could be linked to each other, in children with complex febrile seizures (FS). Our aim was to investigate differences in brain activity in children with a history of complex FS, through a study paradigm associated with the development of learning capacities and using electroencephalographic (EEG) signal. To further increase our understanding of these differences, complex FS were studied separately depending on their type. Method: EEG was recorded in 43 children with past FS. Brain activity associated with auditory learning was investigated using a habituation paradigm, in which repetition suppression (RS) is typically found following stimulus repetition. Auditory stimuli were repeated three times, and each presentation were analysed separately in the time-frequency (TF) domain. A mixedanalysis of variance was used to assess differences in spectral power between stimulus repetition and FS type (simple vs complex prolonged; CP vs complex unprolonged; CUP). Results: Repetition effects were found in the 3-6 Hz during 150-600ms time window after stimulus onset at frontal sites (F(2, 40)=5.645, p=0.007, η2p=0.220). Moreover, an interaction effect between stimulus repetition and FS type (F(4, 80)=2.607, p=0.042, η2p=0.115) was found. Children with CP FS showed greater increase in spectral power in response to the first stimulus presentation, while children with CUP FS failed to show a RS pattern. Significance: Our results show distinct abnormalities in brain activity to a habituation paradigm. We argue that these changes suggest children with CP FS may be hyperexcitable, while children with CUP FS show impaired habituation processes. Still, these differences may be associated with other clinical features linked to complex FS as well. Hence, the role of these differences in complex FS incidence and prognosis should be the subject of future studies