Autocontrôle et adaptation de la difficulté dans l'apprentissage d'une habileté motrice

Ce travail de thèse concerne l'étude des processus cognitifs impliqués lors de l'adaptation de la difficulté de la tâche dans l'apprentissage d'une habilité motrice. Plus précisément, dans une série de trois expériences nous avons adapté la difficulté de la tâche au niveau d'habileté de l'apprenant selon deux méthodes : l'autocontrôle et l'adaptation selon des règles. Les données obtenues dans la première étude montrent que les participants qui peuvent, à chaque essai de pratique, déterminer le niveau de difficulté dans une tâche d'anticipation-coïncidence manifestent une meilleure rétention à long-terme de l'apprentissage que ceux pour lesquels le niveau de difficulté est imposé. Les résultats de la seconde expérience révèlent que les participants qui peuvent ajuster la difficulté de la tâche en début de pratique surpassent les performances en rétention de leurs homologues qui peuvent uniquement choisir ce paramètre en fin de pratique. Les données de la troisième étude montrent qu'une difficulté " automatiquement " adaptée à la performance de l'apprenant suivant des règles préenregistrées par l'expérimentateur améliore davantage l'apprentissage qu'une condition de pratique dans laquelle la difficulté demeure maximale et constante. De manière générale, le fait de mettre l'apprenant dans un environnement de pratique autorisant une adaptation de la difficulté à sa performance permettrait d'améliorer l'apprentissage : 1) par une optimisation du traitement de l'information (selon l'hypothèse du " challenge point "), et 2) par une augmentation de la motivation de l'apprenant, et son maintien au cours de la pratique, due à son implication active dans la situation d'apprentissage.This thesis focuses on the study of the cognitive processes underlying the adaptation of task difficulty in motor skill learning. In a series of three experiments, we adapted the task difficulty to the skill level of the learner according to two methods: self-control and performance-based adaptive schedule. The data of the first experiment revealed that participants who can set the level of difficulty, before each trial, in a complex coincidence anticipation task demonstrated a better long-term retention of learning than those for which this parameter was imposed. The data of the second experiment revealed that learners who could adjust the task difficulty during the beginning of the acquisition phase outperformed their counterparts who could freely adjust this parameter during the end of the acquisition phase. In the third experience, we demonstrated that a performance based adaptive schedule led to a better learning that a condition in which the level of difficulty remained maximal and constant. Broadly speaking, a practice condition in which the level of task difficulty change contingent on the learner's performance is supposed to enhance learning: 1) by optimizing the information processing (according to the challenge point hypothesis), and 2) by enhancing the learner's motivation due to his active involvement in the learning process

Using a quantitative assessment of propulsion biomechanics in wheelchair racing to guide the design of personalized gloves: a case study

This study with a T-52 class wheelchair racing athlete aimed to combine quantitative biomechanical measurements to the athlete's perception to design and test different prototypes of a new kind of rigid gloves. Three personalized rigid gloves with various, fixed wrist extension angles were prototyped and tested on a treadmill in a biomechanics laboratory. The prototype with 45{\deg} wrist extension was the athlete's favourite as it reduced his perception of effort. Biomechanical assessment and user-experience data indicated that his favourite prototype increased wrist stability throughout the propulsion cycle while maintaining a very similar propulsion technique to the athlete's prior soft gloves. Moreover, the inclusion of an innovative attachment system on the new gloves allowed the athlete to put his gloves on by himself, eliminating the need for external assistance and thus significantly increasing his autonomy. This multidisciplinary approach helped to prototype and develop a new rigid personalized gloves concept and is clearly a promising avenue to tailor adaptive sports equipment to an athlete's needs.Comment: 13 pages, 6 figure

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Item does not contain fulltextBACKGROUND: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. METHODS: Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. RESULTS: The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. CONCLUSION: A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.1 februari 201

Database of pleistocene periglacial featuresin France: description of the online version

A database of Pleistocene periglacial features in France has been compiled from a review of academic literature and reports of rescue archaeology, the analysis of aerial photographs and new field surveys. Polygons, soil stripes, ice-wedge pseudomorphs, sand wedges and composite wedge pseudomorphs are included in the database together with their geographic coordinates, geological context, description and associated references. It is hoped that this database, which aim is to be integrated in broader studies, will stimulate further work on past permafrost reconstruction and will favour greater understanding of the climatic events that lead to the formation of the periglacial features. The database is available online on the AFEQ-CNF INQUA website (https://afeqeng.hypotheses.org/487). A folder that contains photographs and sketches of the features is also available on request.Une base de données des structures périglaciaires pléistocènes de France a été créée à partir d’une revue de la littérature scientifique, de rapports d’archéologie préventive, de l’analyse de photographies aériennes et de nouvelles prospections de terrain. Les polygones, les sols striés, les pseudomorphoses de coin de glace, les coins de sable et les pseudomorphoses de coin composite ont été répertoriés dans la base de données avec leurs coordonnées géographiques, le contexte géologique, leur description et les références bibliographiques associées. Nous espérons que cette base de données, dont le but est d’être intégrée dans des études plus larges, stimulera de prochains travaux sur la reconstitution du pergélisol pléistocène et favorisera une plus grande compréhension des événements climatiques qui ont conduit à la formation de ces structures périglaciaires. La base de données est disponible en ligne sur le site de l’AFEQ-CNF INQUA (https://afeqeng.hypotheses.org/487). Un dossier contenant les photographies et dessins des structures périglaciaires est également disponible sur demande

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. Tandem genomic duplications at chromosome 10q24 involving at least the DACTYLIN gene are associated with SHFM3. No point variant in any of the genes residing within the region has been identified so far, but duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis. We report on 32 new index cases identified by array-CGH and/or by qPCR, including some prenatal ones, leading to termination for the most severe. Twenty-two cases were presenting with SHFM and 7 with monodactyly only. Three had an overlapping phenotype. Additional findings were identified in 5 (renal dysplasia, cutis aplasia, hypogonadism and agenesis of corpus callosum with hydrocephalus). We present their clinical and radiological findings and review the literature on this rearrangement that seems to be one of the most frequent cause of SHFM

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.Molecular Psychiatry advance online publication, 31 May 2016; doi:10.1038/mp.2016.84

Effects of eight neuropsychiatric copy number variants on human brain structure

peer reviewedMany 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. © 2021, The Author(s)