CONTENTS -- AUTHORS' APPOINTMENTS -- FOREWORD -- 1 DR ANGELMAN'S SYNDROME Bernard Dan -- Original report of Angelman syndrome -- Dr Harry Angelman (Fig. 1.2) -- From puppet children to Angelman syndrome -- Illustrations and derivations -- From patient descriptions to diagnostic criteria -- Angelman syndrome as a model -- Conclusion -- 2 NATURAL HISTORY Karine Pelc and Bernard Dan -- Antenatal and perinatal period -- Neonatal period -- Infancy -- Childhood -- Adolescence -- Adulthood -- Conclusion -- 3 A PERSONAL ACCOUNT Patrick Haverbeke -- How an angel changed our life -- Early problems with integration -- Options for Henri's education -- The road to diagnosis -- Tools for communication -- The difficult choice: putting Henri in a residential institution -- Reorganising our family life -- Time is passing: Henri becomes an adult -- Henri, ambassador across the world -- 4 MEDICAL GENETICS Bernard Dan -- Chromosome 15q11-q13 deletion -- Uniparental disomy -- UBE3A mutation -- Imprinting defect -- Chromosomal aberration -- Other identified genetic abnormalities -- Genetic testing -- Genetic counselling -- Prenatal diagnosis -- Risks associated with in vitro fertilisation -- Conclusion -- 5 MOLECULAR BIOLOGY Bernard Dan -- Genomic imprinting -- UBE3A gene expression -- Ubiquitination -- An integrative hypothesis -- Possible targets for management -- Conclusion -- Genomic imprinting -- UBE3A gene expression -- Ubiquitination -- An integrative hypothesis -- Possible targets for management -- Conclusion -- 6 DIFFERENTIAL DIAGNOSIS Bernard Dan -- Cerebral palsy -- Autistic spectrum -- Lennox-Gastaut syndrome -- Rett syndrome -- Untreated phenylketonuria -- Methylenetetrahydrofolate reductase deficiency -- ATR-X syndrome -- Gurrieri syndrome -- Mowat-Wilson syndrome -- Chromosomal abnormalities -- Mosaic imprinting defects of 15q11-q13.

Prader-Willi syndrome -- Inverted duplication of chromosome 15 -- Conclusion -- 7 BEHAVIOUR Bernard Dan -- Happy disposition -- Hyperactivity and impulsivity -- Stereotypic behaviours -- Autistic features -- Social interaction -- Behavioural adaptability -- Interest profile -- Oral behaviours -- Conclusion -- 8 PERCEPTION AND COGNITION Bernard Dan -- Visual perception -- Auditory and language perception -- Somatosensory perception -- Pain -- Other perceptual modalities -- Attention -- 'Mental age' -- Memory -- Emotion -- Conclusion -- 9 COMMUNICATION Bernard Dan -- General context of communication -- Receptive verbal language -- Expressive verbal language -- Expressive non-verbal language -- Conclusion -- 10 MOVEMENT AND POSTURAL CONTROL Bernard Dan and Guy Cheron -- Alternative vs immature motor development -- Early motor development -- Later motor development -- Motor signs -- Balance -- Oromotor function -- Hand function -- Walking -- Other movements -- Tremor vs myoclonus -- Pathophysiology -- Physical management -- Pharmacological management -- Conclusion -- 11 EPILEPSY Bernard Dan and Stewart G. Boyd -- Natural history of the seizure disorder -- Seizure types -- Epileptic syndrome -- Convulsive status epilepticus -- Non-convulsive status epilepticus -- Management -- Conclusion -- 12 SLEEP Bernard Dan and Stewart G. Boyd -- Sleep architecture -- Difficulties in initiating sleep -- Multiple nocturnal awakenings -- Parasomnias -- Pathophysiology -- General considerations on management -- Behavioural management -- Use of melatonin -- Use of other drugs -- Other approaches -- Conclusion -- 13 CLINICAL NEUROPHYSIOLOGY Bernard Dan, Stewart G. Boyd and Guy Cheron -- Physiological activities -- Distinctive rhythmic patterns -- Epileptic discharges -- Differential diagnosis of electroencephalographic features.

Pathophysiology of electroencephalographic features -- Other rhythmic activities -- Conclusion -- 14 NEUROIMAGING AND NEUROPATHOLOGY Bernard Dan -- Structural imaging -- Functional imaging -- Neuropathology -- Conclusion -- 15 ANIMAL MODELS Bernard Dan -- Model of maternal deletion -- Model of uniparental disomy -- Models of imprinting defect -- Models of UBE3A mutation -- Other models -- Conclusion -- 16 PERSPECTIVES Bernard Dan -- Current trends -- Molecular biology and genetics -- Patient surveys -- Psychological issues -- Neurological issues -- Animal models -- Conclusion -- 17 RESOURCES -- REFERENCES -- INDEX.