Fitness Consequences of Advanced Ancestral Age over Three Generations in Humans

A rapid rise in age at parenthood in contemporary societies has increased interest in reports of higher prevalence of de novo mutations and health problems in individuals with older fathers, but the fitness consequences of such age effects over several generations remain untested. Here, we use extensive pedigree data on seven pre-industrial Finnish populations to show how the ages of ancestors for up to three generations are associated with fitness traits. Individuals whose fathers, grandfathers and great-grandfathers fathered their lineage on average under age 30 were ~13% more likely to survive to adulthood than those whose ancestors fathered their lineage at over 40 years. In addition, females had a lower probability of marriage if their male ancestors were older. These findings are consistent with an increase of the number of accumulated de novo mutations with male age, suggesting that deleterious mutations acquired from recent ancestors may be a substantial burden to fitness in humans. However, possible non-mutational explanations for the observed associations are also discussed

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Peer reviewe

Perception de soi et des relations d'amitié des adolescents présentant un trouble du spectre de l'autisme intégrés au secondaire ordinaire. Regards d'élèves, en France et au Québec.

Trois erreurs :Mots-clés: profil des perceptions (non pas perception)Page 6: p = .009Page 7: p = .043 (non pas p = .43)Background: An increasing number of students diagnosed with autistic spectrum disorders (ASD) is able to attend mainstream high schools in both France and Quebec. Over the years, this increasing number of ASD youths has come to represent a greater proportion of all children with special educational needs in regular schools. However, little is known about how the French and Quebecois teenagers with ASD cope with different aspects of inclusion. For these students, whose inherent difficulties lie in social interaction and communication, taking into account social challenges of mainstreaming experience is essential. Objectives: (1) Describe experiences of self-perception and friendship relationships in teenagers with ASD attending mainstream high schools in France and Quebec. (2) Establish student’s profiles in relation to their own representations and individual and environmental variables. Methods: 23 students with ASD (age range 12 – 16 years) participated in the study. All of them attended high school full-time, in France (n=15) and in Quebec (n=8). Youths filled out the Self-Perception Profile for Adolescents (SPPA; Harter, 1988), and the Friendship Qualities Scale (FQS; Bukowski et al. 1994). Results: Internal coherence of scales was satisfactory in both sets of data (Cronbach α > .70). Cluster analyses identified 3 groups on the FQS scales, named socially isolated (N = 8), sociable (N=7) and insecure with conflict (N=8). The 4 SPPA clusters were labeled school difficulties (N=8), school-work oriented (N=5), low self-esteem (N=4) and socially performing (N=6). Despite the identical mean score for global self-worth in both socially performing and school-work oriented groups, the socially performing group shows higher mean scores in almost all dimensions measured by SPPA. The results show a positive effect of social skills training on self-perception. Significant differences between profiles (for both SPPA and FQS) are found regarding (1) family sociodemographic data and (2) social and relationship sphere. This study is part of a larger doctoral research program aimed at providing a comprehensive picture of school inclusion. Methods include questionnaires and semi-structured interviews with both teenagers with ASD and their parents Conclusion: These results underscore the importance of taking into account diversity in ASD adolescent profiles and social adaptation strategies. Despite the heterogeneity, the data suggest the importance of friendship relationships and their influence on a satisfying self-perception. The diversity of self evaluations of friendships and self concept suggest that self assertion and social skills training focusing on high functioning autistic youth’s specific problems in high school mainstream programs might be an important pathway to successful inclusion and academic perseverance.Introduction : De plus en plus d'adolescents présentant un trouble du spectre de l'autisme (TSA) fréquentent les établissements secondaires ordinaires, en France et au Québec. Néanmoins, peu d'études ont pris en compte le point de vue des adolescents concernant leur adaptation aux différents aspects de leur inclusion scolaire. Objectifs : (1) Décrire le vécu d'élèves francophones de secondaire ayant un TSA, du point de vue de leur intégration sociale ; (2) Etablir des profils de leur perception de soi et de leurs représentations d'amitié ; (3) Examiner les facteurs individuels et environnementaux associés à ces modes d'adaptation. Population et méthodes : 23 élèves avec TSA (12-16 ans), intégrés au secondaire ordinaire, en France (n=15) et au Québec (n=8) ont complété le Profil des Perceptions de Soi à l'Adolescence et l'Echelle de Qualité des Relations d'Amitié. Résultats : Quatre profils sont identifiés concernant la perception de soi. Ils sont appelés « Difficultés scolaires » (n=8), « Académiquement adaptés » (n=5), « Faible estime de soi » (n=4) et « Socialement adaptés » (n=6). 3 groupes sont identifiés concernant les relations amicales : « Retirés », « Sociables » et « Insécures face au conflit ». La sphère sociale et relationnelle différencie clairement les profils d'adolescents observés, pour les deux questionnaires. La participation à un groupe d'entraînement aux habiletés sociales présente des effets bénéfiques sur la perception de soi. Conclusion : Les résultats soulignent l'importance de poursuivre les recherches francophones notamment concernant (1) les effets d'une aide humaine en classe et (2) l'importance d'un soutien centré sur la compréhension des normes sociales