Angelman Syndrome (ebook)
Product Type: PDF (Complete Book)
ISBN: 9781898683834
Series: Clinics in Developmental Medicine
Edition: 1st
Publication date: May 2008
Page count: 182
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This book provides a comprehensive review of 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.
This condition is a neurogenetic disorder characterised by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioural phenotype. It is caused by the lack of expression of the UBE3A gene associated with various abnormalities of chromosome 15q11-13. Angelman syndrome appears to be distributed equally worldwide. Precise diagnosis carries clinical and genetic counselling implications. However, many clinicians still seem unfamiliar with this condition despite the severity and typical aspects of presentation.
Beyond individual situations, Angelman syndrome can serve as a disease model opening broad questioning of genetic and epigenetic influences in neurology, as well as of several 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 which can improve our understanding of Angelman syndrome and open the way to more specific management.
Clinics in Developmental Medicine No. 177
- FOREWORD ix
- 1. DR ANGELMAN'S SYNDROME 1
- Bernard Dan
- 2. NATURAL HISTORY 11
- Karine Pelc and Bernard Dan
- 3. A PERSONAL ACCOUNT 21
- Patrick Haverbeke
- 4. MEDICAL GENETICS 31
- Bernard Dan
- 5. MOLECULAR BIOLOGY 42
- Bernard Dan
- 6. DIFFERENTIAL DIAGNOSIS 51
- Bernard Dan
- 7. BEHAVIOUR 63
- Bernard Dan
- 8. PERCEPTION AND COGNITION 75
- Bernard Dan
- 9. COMMUNICATION 86
- Bernard Dan
- 10. MOVEMENT AND POSTURAL CONTROL 93
- Bernard Dan and Guy Cheron
- 11. EPILEPSY 105
- Bernard Dan and Stewart G. Boyd
- 12. SLEEP 115
- Bernard Dan and Stewart G. Boyd
- 13. CLINICAL NEUROPHYSIOLOGY 126
- Bernard Dan, Stewart G. Boyd and Guy Cheron
- 14. NEUROIMAGING AND NEUROPATHOLOGY 135
- Bernard Dan
- 15. ANIMAL MODELS 140
- Bernard Dan and Guy Cheron
- 16. PERSPECTIVES 148
- Bernard Dan
- 17. RESOURCES 153
- REFERENCES 156
- INDEX 173
'Angelman syndrome is an increasingly diagnosed neurodevelopmental disorder which paediatric neurologists, clinical geneticists, general paediatricians, and special needs educators will all come across. This comprehensive review of Angelman syndrome will therefore be of interest to many professionals as well as to some parents and carers of affected individuals. The majority of this volume is written by Professor Bernard Dan, a neurologist himself, and reflects the author’s broad clinical experience of Angelman syndrome over a period of many years.' Jill Clayton-Smith, Developmental Medicine & Child Neurology, 2009
'Altogether, Bernard Dan in his book on Angelman syndrome has given a very important contribution to spread his vast knowledge on history, diagnosis, pathophysiology and clinical management of this disease.' Thomas Seiersen, Acta Pêdiatrica 2009
'This book is easy to read and is an excellent starting point for clinicians with an interest in genetic syndromes and clinical neurology. It provides the perspective of a dedicated clinical neurologist and a comprehensive summary of the published literature pertaining to Angelman syndrome. This book will also be useful for scientists dedicated to the understanding of genes that are critical for normal brain development and genetic disorders characterized by cognitive and behavioral disturbance.' Vinodh Narayanan, Journal of Child Neurology, 2010