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CONTEXTE : La neurofibromatose de type 1(NF1) est une maladie génétique dans laquelle des troubles psychiatriques ont été décrits. Excepté le trouble du Développement Intellectuel(TDI) et les troubles des apprentissages, ils sont peu référencés. L'objectif de cette revue est de déterminer la prévalence des troubles psychiatriques associés à la NF1 et de les comparer à la population générale. METHODES : Nous avons réalisé nos recherches sur Pubmed, Psychinfo, Scopus et Cairn et inclus toutes les études de cohorte qui mentionnaient la prévalence des troubles psychiatriques de la 5e édition du Manuel Diagnostique et Statistique des troubles mentaux chez les patients atteints de NF1. Nous avons exclu les articles traitant des troubles des apprentissages et du TDI. Une méta-analyse a été réalisée quand c'était possible. RESULTATS : 18 articles étudiaient la dépression,l'anxiété, le Trouble Déficit de l'Attention avec ou sans Hyperactivité (TDA/H) et le Trouble du Spectre de l'Autisme (TSA) chez les NF1. Les prévalences de ces troubles étaient supérieures à celles de la population générale. Chez les enfants NF1, la prévalence de TSA était de 21%(IC=9-33) contre 1% dans la population générale, et celle du TDA/H de 44%(IC=28-60) contre 3,4% dans la population générale. CONCLUSION : La prévalence de TSA et de TDA/H est plus importante chez les enfants atteints de NF1 que dans la population pédiatrique générale. Il semblerait que ce soit aussi le cas pour la dépression, l'anxiété et pour l'adulte, mais d'autres études sont nécessaires.
Pheochromocytomas are rare but treacherous catecholamine-producing tumors, which if missed or not properly treated, will almost invariably prove fatal. Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. Reflecting the recent leaps in understanding this condition, Pheochromocytoma: Diagnosis, Localization, and Treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas – providing you with the latest cutting edge science alongside best clinical practice. Written by the leading names in the field, the text details the significant developments in understanding the genetics and biology of the tumors, coupled with technological advances in the fields of analytical chemistry, genomics, molecular biology and nuclear medicine. The most comprehensive book on pheochromocytoma Provides cutting edge science and clinical guidance Written by the leading names in the field Authors present their recently developed novel biochemical test for the diagnosis of Pheochromocytoma
This highly practical book brings the examination of minor neurological dysfunction developed by Bert Touwen and his colleagues in Groningen right up to date, which is timely in view of the increasing interest in and use of this approach. The approach is a detailed and extensive neurological examination with the aim of detecting a possible neurobiological basis for learning, behavioural and motor coordination problems in a child and thus informing decision-making and management. It provides a refined, sensitive and age-appropriate technique, designed to take into account the developmental aspects of the child’s rapidly changing nervous system. This third edition of Bert Touwen’s classic handbook has been updated by Mijna Hadders-Algra to reflect contemporary clinical practice. A new chapter assesses the reliability and validity of the methodology, and the book now includes norms for comparison, as well as practical management guidelines based on current clinical practice. Entirely new photographs and diagrams illustrate the assessment techniques clearly. The accompanying CD-ROM contains videos illustrating typical and atypical performance and also provides an electronic assessment form. Readership Paediatric neurologists, physicians working in neuropaediatrics, developmental paediatrics, child and adolescent psychiatry, and paediatric rehabilitation.
The only book that covers the multiple ways in which ADHD is complicated by other psychiatric and learning disorders in both children and adults, ADHD Comorbidities: Handbook for ADHD Complications in Children and Adults features comprehensive, research-based information on ADHD and its full range of coexisting syndromes. Contributing researcher-clinicians, familiar with the complications that additional disorders pose, summarize in accessible language what is currently known about ADHD and its comorbidities, from preschool age to adulthood. These authors describe how ADHD leads to different profiles at different stages of development and how to adjust treatment strategies for both ADHD and additional disorders to reduce the impairments resulting from their combination. The book offers a new paradigm for understanding ADHD, viewing it not as a simple behavior disorder but as a complex developmental impairment of executive functions in the brain. This important handbook gives developmental context to ADHD by describing how symptoms at preschool onset differ from those of older age at onset. Clinicians will find practical help for patients whose ADHD appears in conjunction with 11 other syndromes -- from mood disorders to developmental coordination disorder -- and acquire valuable guidance on adapting and adjusting medications and other interventions to optimize treatment effects for the wide diversity of complex cases that embody ADHD.
Childhood Headache is a comprehensive source of knowledge and guidance to practising clinicians looking after children with headache which includes many clinical examples to illustrate the difficulties in diagnosis or options for treatment. It is also a resource for researchers who are looking for a full analysis of the published studies. Headache as a common problem which has a significant impact on children’s quality of life is fully illustrated in special chapters. Assessment of the child with chronic headache takes a central position, with two chapters to help early diagnosis of the child with a serious neurological disorder. The scientific basis of headache and migraine is clearly presented and simplified in the chapter of pathophysiology. Headache classification and common headache disorders (migraine and tension-type headache) are fully discussed. Other uncommon but important headache disorders such as chronic daily headache are well-covered. Several chapters are dedicated to the management of headache disorders, emphasising available evidence-based recommendations, but where appropriate, the lack of available research into given areas is discussed. Current and future therapies are covered separately. Non-pharmacological, psychological and dietary management of headache are also presented in separate chapters. Models of service provision for children with headache are given from the primary care point of view and also describing the model used in secondary care, giving practical advice on consistent clinical assessment, data collection and the use of diaries and children's drawing in the assessment of headache. Readership: Childhood Headache aims to provide practising clinicians with a comprehensive source of advice and knowledge on the diagnosis and management of childhood headache disorders. It addresses the needs of clinicians looking after children with headache, whether it is in a primary care setting, a hospital general paediatric clinic or in a specialist paediatric neurology service. The book is written by world experts on the subject and provides reliable and, where possible, a complete evidence-based coverage of current knowledge. Many clinical cases are to illustrate the complexity, the importance or the rarity of certain headache disorders and bring to life the relevant models of assessment and management. Childhood Headache also addresses the needs of researchers and scientists. It highlights the results of recent research and also provides critical analysis of commonly accepted classification of headache disorders and pointers for future research needs.
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Widely regarded as the standard clinical reference, this volume provides the best current knowledge about attention-deficit/hyperactivity disorder (ADHD) in children, adolescents, and adults. The field's leading authorities address all aspects of assessment, diagnosis, and treatment, including psychological therapies and pharmacotherapy. Core components of ADHD are elucidated. The volume explores the impact of the disorder across a wide range of functional domains--behavior, learning, psychological adjustment, school and vocational outcomes, and health. All chapters conclude with user-friendly Key Clinical Points. New to This Edition *Reflects significant advances in research and clinical practice. *Expanded with many new authors and new topics. *Chapters on cutting-edge interventions: social skills training, dietary management, executive function training, driving risk interventions, complementary/alternative medicine, and therapies for adults. *Chapters on the nature of the disorder: neuropsychological aspects, emotional dysregulation, peer relationships, child- and adult-specific domains of impairment, sluggish cognitive tempo, and more.
For neurologists and other physicians who encounter neurologic disorders, a practical reference on the advances in understanding the various forms of epilepsy since the first volume was published a decade ago. Among the innovations are magnetic resonance imaging as a nearly routine diagnostic evaluation of difficult cases, a series of new anti-epileptic drugs, and a continuing expansion of knowledge about the basic mechanisms involved. Other topics include the new genetics, partial epilepsy syndrome in adults, benign and malignant syndromes of childhood epilepsy, non-epileptic seizures, pregnancy, and specialized care centers. The series is renamed from the BIMR Neurology series, itself a successor to the Modern Trends in Neurology series. Annotation copyrighted by Book News, Inc., Portland, OR.
Few areas of biomedical research provide greater opportunities for radically new therapies for devastating diseases that have evaded treatment so far than gene therapy. This is particularly true for the brain and nervous system, where gene transfer has become a key technology for basic research and has recently been translated to human therapy in several landmark clinical trials. Gene Therapy of the Central Nervous System: From Bench to Bedside represents the first definitive volume on this subject. Edited by two pioneers of neurological gene therapy, this volume contains contributions by leaders who helped create this field and are expanding the promise of gene therapy for the future of basic and clinical neuroscience. Drawing upon this extensive collective experience, this book provides clear and informative reviews on a variety of subjects of interest to anyone exploring or using gene therapy for neurobiological applications in research and clinical praxis.* Presents gene transfer technologies with particular emphases upon novel vehicles, immunological issues and the role of gene therapy in stem cells* Discusses preclinical areas that are likely to translate into clinical studies in the near future, including epilepsy, pain and amyotrophic lateral sclerosis* Includes "insider" information on technological and regulatory issues which can often limit effective translation of even the most promising idea into clinical use