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Angelman syndrome [[electronic resource] /] / Bernard Dan
| Angelman syndrome [[electronic resource] /] / Bernard Dan |
| Autore | Dan Bernard |
| Pubbl/distr/stampa | London, : Mac Keith Press, 2008 |
| Descrizione fisica | 1 online resource (192 p.) |
| Collana | Clinics in developmental medicine |
| Soggetto topico | Angelman syndrome |
| Soggetto genere / forma | Electronic books. |
| ISBN | 1-898683-83-2 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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 educationThe 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 Genomic imprintingUBE3A gene expression; Ubiquitination; UBE3A gene expression; Ubiquitination; An integrative hypothesis; An integrative hypothesis; Possible targets for management; Possible targets for management; Conclusion; 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 15Conclusion; 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 languageConclusion; 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 |
| Record Nr. | UNINA-9910457291103321 |
Dan Bernard
|
||
| London, : Mac Keith Press, 2008 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Angelman syndrome [[electronic resource] /] / Bernard Dan
| Angelman syndrome [[electronic resource] /] / Bernard Dan |
| Autore | Dan Bernard |
| Pubbl/distr/stampa | London, : Mac Keith Press, 2008 |
| Descrizione fisica | 1 online resource (192 p.) |
| Collana | Clinics in developmental medicine |
| Soggetto topico | Angelman syndrome |
| ISBN | 1-898683-83-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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 educationThe 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 Genomic imprintingUBE3A gene expression; Ubiquitination; UBE3A gene expression; Ubiquitination; An integrative hypothesis; An integrative hypothesis; Possible targets for management; Possible targets for management; Conclusion; 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 15Conclusion; 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 languageConclusion; 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 |
| Record Nr. | UNINA-9910779076703321 |
|
Dan Bernard
|
||
| London, : Mac Keith Press, 2008 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Angelman syndrome / / Bernard Dan
| Angelman syndrome / / Bernard Dan |
| Autore | Dan Bernard |
| Edizione | [1st ed.] |
| Pubbl/distr/stampa | London, : Mac Keith Press, 2008 |
| Descrizione fisica | 1 online resource (192 p.) |
| Disciplina | 616.853 |
| Collana | Clinics in developmental medicine |
| Soggetto topico | Angelman syndrome |
| ISBN |
9781898683834
1898683832 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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 educationThe 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 Genomic imprintingUBE3A gene expression; Ubiquitination; UBE3A gene expression; Ubiquitination; An integrative hypothesis; An integrative hypothesis; Possible targets for management; Possible targets for management; Conclusion; 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 15Conclusion; 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 languageConclusion; 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 |
| Record Nr. | UNINA-9910962560403321 |
|
Dan Bernard
|
||
| London, : Mac Keith Press, 2008 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||