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Informationen zum Autor Kathryn North, New Children's Hospital, Parramatta, Australia Foreword by Bruce R. Korf With contributions by David Gutman Preface by Peter G. Procopis Klappentext A great deal is now known about neurofibromatosis type 1! particularly as a result of the identification of its causative gene by positional cloning. Effective treatments for its resulting cosmetic disfigurement! impaired cognitive performance and even life-threatening malignancy however sadly remain elusive. As Dr Korf remarks in his Foreword; 'this book's cogent and thorough description of neurofibromatosis in children will take its place alongside other major clinical studies of the disorder. (Dr North) has tackled some of the more challenging issues! such as the basis for learning disabilities and the optimal means for early detection of optic gliomas. Her work provides a guide to the clinician and stands as a provocative challenge to the neurofibromatosis research community to further explore the basis of these problems.' Inhaltsverzeichnis 1. Introduction 2. Molecular biology of NF1 3. Clinical manifestations of NF1: patient review 4. Cognitive function and academic performance in children with NF1 5. Cognitive deficit and MRI T2 signal abnormalities in NR1 6. Optic gliomas in NF1: the role of visual evoked potentials in screening and an approach to assessment and management 7. MRI as a diagnostic tool in NF1
