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

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

Effects of eight neuropsychiatric copy number variants on human brain structure

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions

FONCTIONNEMENT DE L’ENFANT QUI PRÉSENTE UNE DÉFICIENCE INTELLECTUELLE ET PISTES D’INTERVENTIONS

Les personnes qui présentent une déficience intellectuelle (DI) ont des atteintes du fonctionnement cognitif, langagier, psychologique et comportemental qui entravent leurs comportements adaptatifs. L’objectif de cet article est de décrire les différentes atteintes des personnes ayant une DI et de suggérer des pistes d’interventions pour chacun des types d’atteintes. Les connaissances actuelles sur l’efficacité de ces interventions chez les personnes qui présentent une DI seront décrites.The goal of this article is to present cognitive, linguistic, psychological and behavioral functioning of individuals with intellectual disability. In addition, guidelines for intervention are presented in order to minimise some difficulties experimented by people living with intellectual disability. A general synopsis of different types of intervention will be made to present the interventions that could be realized to improve cognitive functioning, language, mood, anxiety and some behavioral aspects

Data from: 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 (h²) in a suite of measurements that define corallite architecture, and could partition additive and non-additive 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, h² estimates were generally lower, compared to the combined ecomorph analysis. Marker-based estimates of h² 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

Attentional and executive functions in children and adolescents with developmental coordination disorder and the influence of comorbid disorders: A systematic review of the literature.

Developmental coordination disorder (DCD) is a neurodevelopmental disorder affecting primarily motor skills, but attentional and executive impairments are common in affected individuals. Moreover, the presence of neurodevelopmental comorbidities is frequent in this population, which certainly influences the cognitive profile of the children concerned. Previous studies have reported deficits in visuospatial/nonverbal and planning tasks. This systematic review of the literature aims to determine if impairments can be found in other attentional and executive functions as well. The type of cognitive tasks, the tasks' modality (verbal/nonverbal), and the influence of comorbid disorders on attentional and executive profiles are systematically considered. Forty-one studies were identified through the PubMed/Medline and PsycINFO databases according to pre-established eligibility criteria. The results reveal weaknesses in inhibitory control, working memory, planning, nonverbal fluency, and general executive functioning in children with DCD. The presence of comorbid disorders seemingly contributes to the verbal working memory difficulties findings. This review contributes to a better understanding of the cognitive impairments in DCD and of the needs of children with this disorder, allowing to optimize practitioners' therapeutic interventions

Développement cognitif des enfants épileptiques : contribution du stress

L’épilepsie est un désordre neurologique souvent infantile associé à des comorbidités qui impliquent des troubles cognitifs. Depuis quelques années, les études des chercheurs suggèrent que la qualité de vie des personnes atteintes d’épilepsie est plus sévèrement impactée par les comorbidités associées à la maladie que par les crises. Il importe donc de diminuer la sévérité des troubles cognitifs chez les personnes épileptiques. Dans cet article, nous relevons les hypothèses de la littérature actuelle qui stipulent que le stress pourrait être un facteur affectant négativement le développement cognitif des enfants épileptiques. Ainsi, nous décrivons les atteintes neuropsychologiques inhérentes aux syndromes convulsifs, la relation biologique du stress et la relation entre le stress et les syndromes convulsifs. Deux modes d’action, évoqués par les chercheurs, par lesquels le stress serait un facteur aggravant les comorbidités des personnes qui présentent un syndrome convulsif seront aussi décrits.Epilepsy is a neurodevelopmental disorder with an onset mainly during childhood, and is linked to life-long cognitive deficits. In this article, we suggest that stress could negatively influence the cognitive development in children suffering from epilepsy. The object of this article is to present two explanations that are complementary and cumulative regarding the link between stress and cognitive development in epileptic children and to review the current knowledge regarding them. First, stress influences seizures’ frequency and severity, which influences cognitive development. Secondly, stress causes cognitive deficits which might be added to the cognitive deficits caused by seizures

parent_offpsring

Description of Dryad file "parent_offspring.csv" - This file contains the morphometric data for wild parents and their offspring grown in a common garden. The dimensions are 80 columns x 264 rows. The data is structures so that "y-values" the data prefixed by "O" in columns 42-80 can be regressed on "x-values" or the data prefixed by "P" in columns 5-41. The first row is simply a column counter for the file. Rows > 1 contain morphometric measurements for wild parents and common garden offspring. Columns 1-4 contain ecomorph, habitat, site, and dam information. Note that the "STRI Point" site represents the lagoon environment in the manuscrpt. Dam labels, e.g. "DS-14", contain the following information: (i) first letter indicates habitat (D=reef, S= Seagrass), (ii) second letter indicates ecomorph (S= Short, T= Tall), (iii) a number > "-" indicating dam identity. Columns 5-42 contain bookstein coordinates and linear measurements for the maternal dam. Dam measurements have the prefix "P" added to the codes described in Appendix S1. Columns 42-80 contain bookstein coordinates and linear measurements for an individual offpspring. Offspring measurements have the prefix "O" added to the codes described in Appendix S1

common_garden

Description of Dryad file "common_garden.csv" - This file contains the morphometric data and microsatellite genpotypes used to estimate heritability from a common garden. The dimensions are 70 columns x 266 rows. The first row is simply a column counter for the file. Rows > 1 contain data for a single coral colony grown in the common garden. Columns 1-4 contain ecomorph, habitat, site, and individual information. Note that the "STRI Point" site represents the lagoon environment in the manuscript, and the "Playa paunch" site represents the exposed reef environment. Individual labels, e.g. "DS14.1", contain the following information: (i) first letter indicates habitat (D=reef, S= Seagrass), (ii) second letter indicates ecomorph (S= Short, T= Tall), (iii) following two digits indicate the dam identity, and (iv) the final digit indicates offspring identity. Thus offpspring with the same dam identity are sibs. Columns 5-35 contain bookstein coordinates for the landmarks described in Appendix S1. Columns 36-42 contain linear distances (mm) also described in Appendix S1. Columns 43-70 contain microsatellite genotype information for each individual coral, inferred from the maternal dam, see text for details. The label in row 2 is the locus name. The two columns under each label contain the allele size in base pair of the SSR for each chromosome. I.e. column 42 contains the two allele sizes for locus "D3": this locus in homozygous as both alleles are 270 bp long. A "0" in these columns indicates the product did not amplify, which we interpret as a null allele (see text)

adults

Description of Dryad file "adults.csv" - This file contains the morphometric data and microsatellite genpotypes used to estimate heritability from wild populations. The dimensions are 70 columns x 128 rows. The first row is simply a column counter for the file. Rows > 1 contain data for a single coral colony. Columns 1-3 contain ecomorph, habitat, and site information. Note that the "STRI Point" site represents the lagoon environment in the manuscript, and the "Playa paunch" site represents the exposed reef environment. Columns 4-34 contain bookstein coordinates for the landmarks described in Appendix S1. Columns 35-41 contain linear distances (mm) also described in Appendix S1. Columns 46-71 contain microsatellite genotype information for each individual coral. The label in row 2 is the locus name. The two columns under each label contain the allele size in base pair of the SSR for each chromosome. I.e. column 42 contains the two allele sizes for locus "D3": this locus in homozygous as both alleles are 270 bp long. A "0" in these columns indicates the product did not amplify, which we interpret as a null allele (see text)