Utilisation De Methodes Non Parametriques Dans Letude Genetique Du Trouble Autistique

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UTILISATION DE METHODES NON PARAMETRIQUES DANS L'ETUDE GENETIQUE DU TROUBLE AUTISTIQUE

Author : Anne Philippe
Publisher :
ISBN 13 :
Total Pages : 173 pages
Book Rating : 4.:/5 (793 download)

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Book Synopsis UTILISATION DE METHODES NON PARAMETRIQUES DANS L'ETUDE GENETIQUE DU TROUBLE AUTISTIQUE by : Anne Philippe

Download or read book UTILISATION DE METHODES NON PARAMETRIQUES DANS L'ETUDE GENETIQUE DU TROUBLE AUTISTIQUE written by Anne Philippe and published by . This book was released on 2000 with total page 173 pages. Available in PDF, EPUB and Kindle. Book excerpt: L'OBJECTIF DE CETTE THESE EST LA RECHERCHE DES GENES IMPLIQUES DANS L'ETIOLOGIE DU TROUBLE AUTISTIQUE. L'EXISTENCE DE FACTEURS GENETIQUES A ETE DEMONTREE PAR LES ETUDES DE JUMEAUX ET LES ETUDES FAMILIALES MONTRENT QUE LE RISQUE SE LIMITE ESSENTIELLEMENT A LA FRATRIE AVEC UN RISQUE RELATIF DE 20-60 PAR RAPPORT A LA POPULATION GENERALE. DU FAIT DES INCERTITUDES SUR LE MODE D'HEREDITE, NOUS AVONS EU RECOURS A DES METHODES NON PARAMETRIQUES, ET UTILISE DEUX STRATEGIES : UNE ETUDE DE GENES CANDIDATS PAR LA METHODE DE TRANSMISSION DE DESEQUILIBRE DE LIAISON ET UNE ETUDE DE LOCALISATION PAR EXPLORATION SYSTEMATIQUE DU GENOME PAR LA METHODE DES PAIRES DE GERMAINS. NOUS NE METTONS PAS EN EVIDENCE DE LIAISON OU DE DESEQUILIBRE DE LIAISON AVEC LES POLYMORPHISMES DES GENES CANDIDATS QUE NOUS AVONS TESTE, C'EST-A-DIRE DES GENES IMPLIQUES DANS LE SYSTEME OPIACE, CODANT POUR LA PROENKEPHALINE, LA PRODYNORPHINE, LA PROPROTEINE CONVERTASE SUBTILISINE/KEXINE DE TYPE 2 ; DES GENES INTERVENANT DANS LE METABOLISME MONOAMINERGIQUE, CODANT POUR LA TYROSINE HYDROXYLASE, LES MONOAMINES OXIDASES A ET B, LES RECEPTEURS DOPAMINERGIQUES D2 ET D5, LE TRANSPORTEUR DE LA SEROTONINE ET DEUX GENES INTERVENANT DANS LE DEVELOPPEMENT CEREBRAL CODANT POUR LE BDNF (BRAIN-DERIVED NEUROTROPHIC FACTOR) ET LE NCAM (NEURAL CELL ADHESION MOLECULE), SIGNIFIANT QUE CES GENES NE JOUENT VRAISEMBLABLEMENT PAS UN ROLE MAJEUR DANS L'ETIOLOGIE DU TROUBLE AUTISTIQUE DANS LES FAMILLES QUE NOUS AVONS ETUDIEES. NOUS AVONS REALISE UNE ETUDE SYSTEMATIQUE DU GENOME AVEC 264 MARQUEURS MICROSATELLITES DANS UN ECHANTILLON DE 51 FAMILLES AVEC DEUX ENFANTS ATTEINTS. L'ANALYSE DEUX-POINTS INDIQUE 12 MARQUEURS AVEC UN SEUIL DE SIGNIFICATION A 5%. L'ANALYSE MULTIPOINT AVEC LE MEME SEUIL

Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie

Author : Guillaume Huguet
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (115 download)

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Book Synopsis Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie by : Guillaume Huguet

Download or read book Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie written by Guillaume Huguet and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Les troubles du spectre autistique (TSA) touchent approximativement 1% de la population générale. Ces troubles se caractérisent par un déficit de la communication sociale, ainsi que des comportements stéréotypés et des intérêts restreints. Plusieurs gènes impliqués dans le déterminisme des TSA ont été identifiés, comme par exemple les gènes NLGN3-4X, NRXN1-3 et SHANK1-3. Au cours des années précédentes, les TSA ont été considérés comme un ensemble complexe de troubles monogéniques. Cependant, les études récentes du génome complet suggèrent la présence de gènes modificateurs (« multiple hits model »). La dyslexie est caractérisée par un trouble dans l'apprentissage de la lecture et de l'écriture qui touche 5---15% de la population générale. Les facteurs génétiques impliqués restent pour l'instant inconnus car seuls des gènes ou loci candidats ont été identifiés. Mon projet de thèse avait pour objectif de poursuivre l'identification des facteurs génétiques impliqués dans les TSA et de découvrir un premier facteur génétique pour la dyslexie. Pour cela, deux types de populations ont été étudiés : d'une part des patients atteints de TSA (N>600) provenant de France, de Suède et des Iles Faroe, d'autre part des patients atteints de dyslexie (N>200) provenant de France, en particulier une famille de 11 personnes atteintes sur 3 générations. J'ai utilisé à la fois la technologie des puces à ADN Illumina (600 K et 5M) et le séquençage complet du génome humain pour effectuer des analyses de liaison et d'association. Pour les TSA, grâce aux analyses de CNVs, j'ai pu identifier des gènes candidats pour l'autisme et confirmer l'association de plusieurs gènes synaptiques avec l'autisme. En particulier, l'étude d'une population de 30 patients des îles Faroe a pu confirmer l'implication des gènes NLGN1 et NRXN1 dans l'autisme et identifier un nouveau gène candidat IQSEC3. En parallèle, j'ai exploréPRRT2 localisé en 16p11.2. PRRT2 code pour un membre du complexe SNARE synaptique qui permet la libération des vésicules synaptiques. Je n'ai pas pu mettre en évidence d'association avec les TSA, mais j'ai montré que ce gène important pour certaines maladies neurologiques était sous pression de sélection différente selon les populations. Pour la dyslexie, j'ai effectué une analyse de liaison (méthode des lod-scores) pour une grande famille de 11 individus atteints sur trois générations. Cette étude a permis d'identifier CNTNAP2 comme un gène de vulnérabilité à la dyslexie. Cette découverte est importante car ce même gène est aussi associé aux TSA. Par contre, aucune des 20 variations rares découvertes par le séquençage complet du génome n'est localisée dans les parties codantes du gène. Plusieurs variations localisées dans des régions régulatrices sont candidates. En conclusion, les résultats de ma thèse ont permis d'identifier des gènes candidats pour les TSA, de confirmer le rôle des gènes synaptiques dans ce trouble, de montrer pour la première fois grâce à une analyse de liaison le rôle de CNTNAP2 dans la dyslexie.

A Comprehensive Book on Autism Spectrum Disorders

Author : Mohammad-Reza Mohammadi
Publisher : BoD – Books on Demand
ISBN 13 : 9533074949
Total Pages : 491 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis A Comprehensive Book on Autism Spectrum Disorders by : Mohammad-Reza Mohammadi

Download or read book A Comprehensive Book on Autism Spectrum Disorders written by Mohammad-Reza Mohammadi and published by BoD – Books on Demand. This book was released on 2011-09-15 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aim of the book is to serve for clinical, practical, basic and scholarly practices. In twentyfive chapters it covers the most important topics related to Autism Spectrum Disorders in the efficient way and aims to be useful for health professionals in training or clinicians seeking an update. Different people with autism can have very different symptoms. Autism is considered to be a "spectrum" disorder, a group of disorders with similar features. Some people may experience merely mild disturbances, while the others have very serious symptoms. This book is aimed to be used as a textbook for child and adolescent psychiatry fellowship training and will serve as a reference for practicing psychologists, child and adolescent psychiatrists, general psychiatrists, pediatricians, child neurologists, nurses, social workers and family physicians. A free access to the full-text electronic version of the book via Intech reading platform at http://www.intechweb.org is a great bonus.

Handbook of Multilingualism and Multilingual Communication

Author : Peter Auer
Publisher : Walter de Gruyter
ISBN 13 : 311019855X
Total Pages : 606 pages
Book Rating : 4.1/5 (11 download)

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Book Synopsis Handbook of Multilingualism and Multilingual Communication by : Peter Auer

Download or read book Handbook of Multilingualism and Multilingual Communication written by Peter Auer and published by Walter de Gruyter. This book was released on 2008-09-25 with total page 606 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is an up-to-date, concise introduction to bilingualism and multilingualism in schools, in the workplace, and in international institutions in a globalized world. The authors use a problem-solving approach and ask broad questions about bilingualism and multilingualism in society, including the question of language acquisition versus maintenance of bilingualism. Key features: provides a state-of-the-art description of different areas in the context of multilingualism and multilingual communication presents a critical appraisal of the relevance of the field, offers solutions of everyday language-related problems international handbook with contributions from renown experts in the field

Assessing Multilingual Children

Author : Sharon Armon-Lotem
Publisher : Multilingual Matters
ISBN 13 : 1783093129
Total Pages : 376 pages
Book Rating : 4.7/5 (83 download)

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Book Synopsis Assessing Multilingual Children by : Sharon Armon-Lotem

Download or read book Assessing Multilingual Children written by Sharon Armon-Lotem and published by Multilingual Matters. This book was released on 2015 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: Second language learners often produce language forms resembling those of children with Specific Language Impairment (SLI). At present, professionals working in language assessment and education have only limited diagnostic instruments to distinguish language impaired migrant children from those who will eventually catch up with their monolingual peers. This book presents a comprehensive set of tools for assessing the linguistic abilities of bilingual children. It aims to disentangle effects of bilingualism from those of SLI, making use of both models of bilingualism and models of language impairment. The book's methods-oriented focus will make it an essential handbook for practitioners who look for measures which could be adapted to a variety of languages in diverse communities, as well as academic researchers.

Autism and Autistic-like Conditions in Mental Retardation

Author : Dirk W. Kraijer
Publisher : Psychology Press
ISBN 13 : 9789026514630
Total Pages : 451 pages
Book Rating : 4.5/5 (146 download)

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Book Synopsis Autism and Autistic-like Conditions in Mental Retardation by : Dirk W. Kraijer

Download or read book Autism and Autistic-like Conditions in Mental Retardation written by Dirk W. Kraijer and published by Psychology Press. This book was released on 1997-01-01 with total page 451 pages. Available in PDF, EPUB and Kindle. Book excerpt: For every 100 children and adults who display autism, some 80 are mentally retarded. This book argues that it is vital to consider autism and autistic-like conditions using the mental retardation field as a frame of reference and presents a scale designed to help with this.

Confronting Poverty in Iraq

Author : World Bank
Publisher : World Bank Publications
ISBN 13 : 0821385631
Total Pages : 114 pages
Book Rating : 4.8/5 (213 download)

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Book Synopsis Confronting Poverty in Iraq by : World Bank

Download or read book Confronting Poverty in Iraq written by World Bank and published by World Bank Publications. This book was released on 2011-01-10 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: This report provides the most comprehensive and rigorous analysis of Iraqi income and expenditure in several decades. The report makes extensive use of the Iraq Household Socio-Economic Survey, the first nationwide income and expenditure survey since 1988. IHSES data is complemented income and expenditure data from a wide range of other measures of living standards, allowing us to analyze living standards in a holistic way. The analysis presented here was performed with two main goals first, to inform the Government s Poverty Reduction Strategy; and second, to serve as a baseline for future assessments of changes in living standards and the identification of critical issues for deeper examination. Iraqi living standards have two unusual characteristics. First, they have fallen over the past generation. Second, they feature surprisingly little inequality. These characteristics are both rooted in Iraq s recent history of authoritarian government, war, military occupation, insurgency, and civil strife leading to infrastructure destruction and population displacement. There have been few opportunities for individuals to prosper from professional or entrepreneurial activities. Decades of neglected investment have resulted in deterioration of social services and economic infrastructure. Consequently, individuals have lacked capabilities to prosper and an investment climate conducive to prosperity. School enrollment and life expectancy have declined. Extremely low returns to education reflect the combination of poor educational quality and lack of employment opportunities. In terms of economic infrastructure, access to reliable electricity and water, and even access to paved roads are low, are further reflections of decades of neglect. While the upper end of the distribution has been pulled down by a lack of opportunities, the lower end has been supported by direct government provision of food. The Public Distribution System (PDS) provides 85 percent of food needs. While PDS has been useful as a safety net for the poor and the vulnerable, the system is expensive, inefficient, and fiscally risky. Indeed, PDS food rations account for a far greater share of public spending than does education or health. Going forward, Iraq faces two main challenges. First, although Iraq does not have to develop from scratch, it faces a formidable challenge in re-development. Second, a shift by the Government is required from direct provision of basic subsistence toward investment in human capacities. The Government can provide an enabling environment through investments in economic infrastructure and services to business and citizens, thus allowing the population to make productive use of education and their own labor. Both challenges are now being taken up by the Poverty Reduction Strategy, which articulates a detailed set of required actions and outlines priorities for government spending.

Conceptual Modeling for Traditional and Spatio-Temporal Applications

Author : Christine Parent
Publisher : Springer Science & Business Media
ISBN 13 : 354030326X
Total Pages : 475 pages
Book Rating : 4.5/5 (43 download)

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Book Synopsis Conceptual Modeling for Traditional and Spatio-Temporal Applications by : Christine Parent

Download or read book Conceptual Modeling for Traditional and Spatio-Temporal Applications written by Christine Parent and published by Springer Science & Business Media. This book was released on 2006-09-02 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: From environmental management to land planning and geo-marketing, the number of application domains that may greatly benefit from using data enriched with spatio-temporal features is expanding very rapidly. This book shows that a conceptual design approach for spatio-temporal databases is both feasible and easy to apprehend. While providing a firm basis through extensive discussion of traditional data modeling concepts, the major focus of the book is on modeling spatial and temporal information.