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Griet Van Buggenhout gaat in dit proefschrift op zoek naar de mensen met een mentale achterstand binnen de Nederlandse bevolking: hoeveel patiënten telt de bevolking precies, hoe zit de spreiding tussen mannen en vrouwen, wat zijn de onderliggende oorzaken van deze mentale achterstand en wat betekent dit voor de medische zorg in het land? Een proefschrift ter verkrijging van de graad van doctor aan de Katholieke Universiteit Nijmegen.

Proefschriften --- Thèses --- Intellectual Disability --- genetics. --- Theses --- genetics

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La vision culturelle de l'enfance, les courants pédagogiques successifs et les diverses conceptions du handicap ont au fil du temps déterminé pratiques et philosophie de l'action éducative. Mais le développement très récent des structures de prise en charge pour adultes handicapés mentaux n'a pas encore permis l'élaboration de référence explicite à la pratique professionnelle. Les discours sur les pratiques institutionnelles liées à la sexualité des adultes accueillis en Foyer d'hébergement sont à cet égard révélateurs. En effet, ils mettent en lumière l'une des caractéristiques du statut d'adulte handicapé mental : celle d'être un statut paradoxal où s'affrontent et coexistent statut d'adulte et statut de handicapé. La question centrale de l'ouvrage sera donc celle de la gestion de ce paradoxe, et des références implicites de l'action des professionnels. De la logique d'intention à la logique d'action, du statut d'adulte au statut de handicapé, d'Alter à Alius, de l'autre comme moi-même, ou de l'autre différent, au-delà du regard porté sur les pratiques, c'est bien la démarche éthique qui est ici interrogée à travers les propos des acteurs et l'enchevêtrement de référentiels des discours et des conduites. Le statut d'adulte handicapé mental est un statut paradoxal, où s'affrontent et coexistent statut d'adulte et statut de handicapé. La question centrale de cet ouvrage est celle de la gestion de ce paradoxe et des références pour l'action des professionnels - références encore peu nombreuses tant est récent le développement des structures de prise en charge pour adultes handicapés mentaux. C'est la démarche éthique qui est ici interrogée à travers les propos d'acteurs et l'enchevêtrement de référentiels des discours et des conduites.

People with mental disabilities --- Sexual behavior surveys --- Sexual behavior --- Social conditions. --- seksualiteit (sexualiteit) --- handicap --- sexualité --- invalidité (handicap) --- Sex behavior surveys --- Sex surveys --- Social surveys --- Intellectually disabled persons --- Mental disabilities, People with --- Mentally deficient persons --- Mentally disabled persons --- Mentally disordered persons --- Mentally handicapped --- Mentally retarded persons --- People with intellectual disabilities --- Retarded persons --- People with disabilities --- Intellectual disability --- Mentally ill --- Social conditions --- People with mental disabilities - Sexual behavior - France. --- Sexual behavior surveys - France. --- People with mental disabilities - France - Social conditions.

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A blueprint for the investigation of neurodevelopmental disorders, this book presents the work of a team of scientists using a multidisciplinary, integrated approach to link genes with human behavior. Using Williams syndrome as a model, leading researchers in neuroanatomy, neurocognition, neurophysiology, and molecular genetics have built bridges between disciplines to link higher cognitive functions, their underlying neurobiological bases, and their molecular genetic underpinnings. One of the book's many strengths is that the scientists from each discipline studied the same individuals with Williams syndrome. As the book shows, Williams syndrome is a fascinating disorder because of the "peaks and valleys" among cognitive domains: severe intellectual deficits but remarkably spared and effusive language; specific impairment in spatial construction but great strength in face processing and sociability. By capitalizing on these dissociations in higher cognitive functioning, the book provides a model for the study of brain-behavior relationships as well as for the mapping of brain and behavior phenotypes to the genome and beyond. Contributors Ralph Adolphs, Twyla Alvarez, Lawrence Appelbaum, Ursula Bellugi, Dennis Burian, Xiao-Ning Chen, Michael Chiles, Stephan Eliez, Albert Galaburda, Hanao Hirota, Wendy Jones, Julie Korenberg, Zona Lai, Liz Lichtenberger, Alan Lincoln, Rumiko Matsuoka, Debra Mills, Helen Neville, Judy Reilly, Allan Reiss, Bruce Roe, Marie St. George, J. Eric Schmidtt, Erica Straus.

Cognitive psychology --- Neuropathology --- Williams Syndrome --- Cognition --- Brain Diseases --- Aortic Stenosis, Supravalvular --- Mental Retardation --- Mental Processes --- Central Nervous System Diseases --- Chromosome Disorders --- Psychological Phenomena and Processes --- Congenital Abnormalities --- Genetic Diseases, Inborn --- Aortic Valve Stenosis --- Nervous System Diseases --- Neurobehavioral Manifestations --- Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Neurologic Manifestations --- Psychiatry and Psychology --- Heart Valve Diseases --- Heart Diseases --- Cardiovascular Diseases --- Pediatrics --- Medicine --- Health & Biological Sciences --- Cardiovascular Disease --- Disease, Cardiovascular --- Diseases, Cardiovascular --- Cardiac Diseases --- Cardiac Disease --- Disease, Cardiac --- Disease, Heart --- Diseases, Cardiac --- Diseases, Heart --- Heart Disease --- Valvular Heart Diseases --- Disease, Heart Valve --- Disease, Valvular Heart --- Diseases, Heart Valve --- Diseases, Valvular Heart --- Heart Disease, Valvular --- Heart Diseases, Valvular --- Heart Valve Disease --- Valve Disease, Heart --- Valve Diseases, Heart --- Valvular Heart Disease --- Focal Neurologic Deficits --- Manifestations, Neurologic --- Manifestations, Neurological --- Neurologic Dysfunction --- Neurologic Findings --- Neurologic Manifestation --- Neurologic Signs --- Neurologic Symptoms --- Neurological Manifestations --- Neurologic Deficits --- Neurologic Signs and Symptoms --- Deficit, Focal Neurologic --- Deficit, Neurologic --- Deficits, Focal Neurologic --- Deficits, Neurologic --- Dysfunction, Neurologic --- Dysfunctions, Neurologic --- Finding, Neurologic --- Findings, Neurologic --- Focal Neurologic Deficit --- Manifestation, Neurologic --- Manifestation, Neurological --- Neurologic Deficit --- Neurologic Deficit, Focal --- Neurologic Deficits, Focal --- Neurologic Dysfunctions --- Neurologic Finding --- Neurologic Sign --- Neurologic Symptom --- Neurological Manifestation --- Sign, Neurologic --- Signs, Neurologic --- Symptom, Neurologic --- Symptoms, Neurologic --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Cognitive Manifestations --- Neurobehavioral Signs and Symptoms --- Cognitive Symptoms --- Signs and Symptoms, Neurobehavioral --- Cognitive Manifestation --- Cognitive Symptom --- Manifestation, Cognitive --- Manifestation, Neurobehavioral --- Manifestations, Cognitive --- Manifestations, Neurobehavioral --- Neurobehavioral Manifestation --- Symptom, Cognitive --- Symptoms, Cognitive --- Nervous System Disorders --- Neurological Disorders --- Neurologic Disorders --- Disease, Nervous System --- Diseases, Nervous System --- Disorder, Nervous System --- Disorder, Neurologic --- Disorder, Neurological --- Disorders, Nervous System --- Disorders, Neurologic --- Disorders, Neurological --- Nervous System Disease --- Nervous System Disorder --- Neurologic Disorder --- Neurological Disorder --- Aortic Stenosis --- Aortic Valve Stenoses --- Stenoses, Aortic --- Stenoses, Aortic Valve --- Stenosis, Aortic --- Stenosis, Aortic Valve --- Valve Stenoses, Aortic --- Valve Stenosis, Aortic --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Abnormality, Congenital --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Defects, Birth --- Deformity --- Psychologic Processes and Principles --- Chromosomal Disorders --- Autosomal Chromosome Disorders --- Chromosome Abnormality Disorders --- Autosomal Chromosome Disorder --- Chromosomal Disorder --- Chromosome Abnormality Disorder --- Chromosome Disorder --- Chromosome Disorder, Autosomal --- Chromosome Disorders, Autosomal --- Disorder, Chromosomal --- Disorder, Chromosome --- Disorder, Chromosome Abnormality --- Disorders, Chromosomal --- Disorders, Chromosome --- CNS Diseases --- Central Nervous System Disorders --- CNS Disease --- Human Information Processing --- Information Processing, Human --- Deficiency, Mental --- Intellectual Development Disorder --- Mental Deficiency --- Mental Retardation, Psychosocial --- Disability, Intellectual --- Idiocy --- Retardation, Mental --- Deficiencies, Mental --- Development Disorder, Intellectual --- Development Disorders, Intellectual --- Disabilities, Intellectual --- Disorder, Intellectual Development --- Disorders, Intellectual Development --- Intellectual Development Disorders --- Intellectual Disabilities --- Mental Deficiencies --- Mental Retardations, Psychosocial --- Psychosocial Mental Retardation --- Psychosocial Mental Retardations --- Retardation, Psychosocial Mental --- Retardations, Psychosocial Mental --- Brain Disorders --- CNS Disorders, Intracranial --- Central Nervous System Disorders, Intracranial --- Central Nervous System Intracranial Disorders --- Encephalon Diseases --- Encephalopathy --- Intracranial CNS Disorders --- Intracranial Central Nervous System Disorders --- Brain Disease --- Brain Disorder --- CNS Disorder, Intracranial --- Encephalon Disease --- Encephalopathies --- Intracranial CNS Disorder --- Cognitive Function --- Cognitions --- Cognitive Functions --- Function, Cognitive --- Functions, Cognitive --- Beuren Syndrome --- Chromosome 7q11.23 Deletion Syndrome --- Hypercalcemia-Supravalvar Aortic Stenosis --- Supravalvar Aortic Stenosis Syndrome --- Williams Contiguous Gene Syndrome --- Williams-Beuren Syndrome --- Contiguous Gene Syndrome, Williams --- Aortic Stenoses, Hypercalcemia-Supravalvar --- Aortic Stenosis, Hypercalcemia-Supravalvar --- Hypercalcemia Supravalvar Aortic Stenosis --- Hypercalcemia-Supravalvar Aortic Stenoses --- Stenoses, Hypercalcemia-Supravalvar Aortic --- Stenosis, Hypercalcemia-Supravalvar Aortic --- Syndrome, Beuren --- Syndrome, Williams --- Syndrome, Williams-Beuren --- Williams Beuren Syndrome --- Aortic Supravalvular Stenosis --- Stenosis, Aortic Supravalvular --- Stenosis, Supravalvular Aortic --- Supravalvar Aortic Stenosis --- Supravalvular Stenosis, Aortic --- Supravalvular Aortic Stenosis --- Aortic Supravalvular Stenoses --- Stenoses, Aortic Supravalvular --- Supravalvular Stenoses, Aortic --- Williams syndrome --- Cognition disorders in children. --- Brain --- Child psychiatry --- Child psychopathology --- Cognition in children --- Beuren syndrome --- Contiguous gene syndrome --- Elfin facies syndrome --- Fanconi-Schlesinger syndrome --- Idiopathic hypercalcemia-supravalvular aortic stenosis syndrome --- Supravalvar aortic stenosis syndrome --- Williams-Barratt syndrome --- Williams-Beuren syndrome --- Williams contiguous gene syndrome --- Aortic valve stenosis in children --- Intellectual disability --- Syndromes in children --- Pathophysiology. --- Genetic aspects. --- genetics. --- physiology. --- pathology. --- physiopathology. --- psychology. --- NEUROSCIENCE/General