Books

Subject: Neurodevelopmental Disorders and Neurodisability

Series: Clinics in Developmental Medicine

Publication date: 31/05/2008

ISBN: 9781898683551

Edition: 1st

Pages: 123 pages

Angelman Syndrome

Bernard Dan (Author)

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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

Bernard Dan (Editor)
Bernard Dan

Bernard Dan studied medicine at the Free University of Brussels (ULB) and did part of his training in paediatric neurology at Great Ormond Street Hospital in London, where he developed an interest in Angelman syndrome. He is also a rehabilitation specialist.

Bernard Dan is currently the 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.

Bernard is co-editor of the books Cerebral Palsy: Science and Clinical Practice and Ethics in Child Health.

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

'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

'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

'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