Angelman syndrome is a neurogenetic disorder characterised by developmental delay, absence of speech, motor impairment, epilepsy, and an exuberant temperament. Its diagnosis has important implications for both medical management and counselling. Despite its severity and typical presentation, however, many physicians remain unfamiliar with the condition, first described by Harry Angelman in 1965. Angelman syndrome is caused by the lack of expression of the UBE3A gene associated with various abnormalities of chromosome 15q11-13. With a prevalence of about 1 in 12,000, it appears to be distributed equally worldwide. Beyond the individual situation, Angelman syndrome can serve as a disease model raising questions about the genetic and epigenetic influences in neurology, as well as about concepts such as psychomotor development, cerebral palsy, behavioural phenotypes and epileptic syndromes. Recent advances in molecular biology and animal models of the syndrome have provided new data that improve our understanding of Angelman syndrome and open the way to more specific management.In this book, Bernard Dan provides a comprehensive review of the clinical and genetic issues, natural history, possible pathophysiological pathways, specific clinical problems (motor impairment, behaviour, learning difficulties, communication, sleep, epilepsy), clinical neurophysiology, neuropathology, rehabilitation and basic research in the field of Angelman syndrome.
- Electronic book text
- 01 Jan 2010
- Mac Keith Press
- London, United Kingdom
Table of contents
Foreword; 1. Dr Angelman's syndrome; 2. Natural History; 3. A personal account; 4. Medical Genetics; 5. Molecular biology; 6. Differential diagnosis; 7. Behaviour; 8. Perception and cognition; 9. Communication; 10. Movement and postural control; 11. Epilepsy; 12. Sleep; 13. Clinical neurophysiology; 14. Neuroimaging and neuropathy; 15. Animal models; 16. Perspectives; 17. Resources; References; Index.
About Bernard Dan
Bernard Dan is head of the department of neurology at the University Children's Hospital in Brussels and professor of developmental neurology, neurobiology and neurophysiology at the Free University of Brussels, medical director of the Interuniversity Reference Centre for Cerebral Palsy ULB-VUB-ULg, director of the Centre for Movement Analysis (Brugmann, ULB) and president of the Belgian Society of Paediatric Neurology. He helped Belgian families to set up an Angelman syndrome support group, and organised the First National Symposium on Angelman Syndrome in Belgium in 1997. His research focuses on electrophysiology and motor control in movement disorders including Angelman syndrome.