Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) / G. PINI in Autism Research and Treatment, 2016 (2016)  

Public ISBD [article]  inAutism Research and Treatment > 2016 (2016) Titre : Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) Type de document : texte imprimé Auteurs : G. PINI, Auteur ; L. CONGIU, Auteur ; Alberto BENINCASA, Auteur ; P. DIMARCO, Auteur ; S. BIGONI, Auteur ; A.H. DYER, Auteur ; N. MORTIMER, Auteur ; A. DELLA-CHIESA, Auteur ; S. O'LEARY, Auteur ; Rachel MCNAMARA, Auteur ; Kevin J. MITCHELL, Auteur ; M. GILL, Auteur ; D. TROPEA, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying neurobiology of RTT, a new treatment has been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models of RTT, has demonstrated safety in human studies of patients with RTT. The present clinical study examines the disease severity as assessed by clinicians (International Scoring System: ISS), social and cognitive ability assessed by two blinded, independent observers (RSS: Rett Severity Score), and changes in brain activity (EEG) parameters of ten patients with classic RTT and ten untreated patients matched for age and clinical severity. Significant improvement in both the ISS (p = 0.0106) and RSS (p = 0.0274) was found in patients treated with IGF1 in comparison to untreated patients. Analysis of the novel RSS also suggests that patients treated with IGF1 have a greater endurance to social and cognitive testing. The present clinical study adds significant preliminary evidence for the use of IGF-1 in the treatment of RTT and other disorders of the autism spectrum. En ligne : http://dx.doi.org/10.1155/2016/5073078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=332 [article] Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) [texte imprimé] / G. PINI, Auteur ; L. CONGIU, Auteur ; Alberto BENINCASA, Auteur ; P. DIMARCO, Auteur ; S. BIGONI, Auteur ; A.H. DYER, Auteur ; N. MORTIMER, Auteur ; A. DELLA-CHIESA, Auteur ; S. O'LEARY, Auteur ; Rachel MCNAMARA, Auteur ; Kevin J. MITCHELL, Auteur ; M. GILL, Auteur ; D. TROPEA, Auteur. Langues : Anglais (eng) in Autism Research and Treatment > 2016 (2016) Index. décimale : PER Périodiques Résumé : Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying neurobiology of RTT, a new treatment has been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models of RTT, has demonstrated safety in human studies of patients with RTT. The present clinical study examines the disease severity as assessed by clinicians (International Scoring System: ISS), social and cognitive ability assessed by two blinded, independent observers (RSS: Rett Severity Score), and changes in brain activity (EEG) parameters of ten patients with classic RTT and ten untreated patients matched for age and clinical severity. Significant improvement in both the ISS (p = 0.0106) and RSS (p = 0.0274) was found in patients treated with IGF1 in comparison to untreated patients. Analysis of the novel RSS also suggests that patients treated with IGF1 have a greater endurance to social and cognitive testing. The present clinical study adds significant preliminary evidence for the use of IGF-1 in the treatment of RTT and other disorders of the autism spectrum. En ligne : http://dx.doi.org/10.1155/2016/5073078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=332

Synaptic Disorders / Catalina BETANCUR

Public ISBD in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL Titre : Synaptic Disorders Type de document : texte imprimé Auteurs : Catalina BETANCUR, Auteur ; Kevin J. MITCHELL, Auteur Année de publication : 2015 Importance : p.195-238 Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399 in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL Synaptic Disorders [texte imprimé] / Catalina BETANCUR, Auteur ; Kevin J. MITCHELL, Auteur . - 2015 . - p.195-238. Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399

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The Genetic Architecture of Neurodevelopmental Disorders / Kevin J. MITCHELL

Public ISBD in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL Titre : The Genetic Architecture of Neurodevelopmental Disorders Type de document : texte imprimé Auteurs : Kevin J. MITCHELL, Auteur Année de publication : 2015 Importance : p.1-28 Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399 in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL The Genetic Architecture of Neurodevelopmental Disorders [texte imprimé] / Kevin J. MITCHELL, Auteur . - 2015 . - p.1-28. Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399

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The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL

Public ISBD Titre : The Genetics of Neurodevelopmental Disorders Type de document : texte imprimé Auteurs : Kevin J. MITCHELL, Directeur de publication Editeur : Hoboken [Etats-Unis] : Wiley Année de publication : 2015 Importance : 356 p. Présentation : ill. Format : 18,5cm x 26cm x 2,3cm ISBN/ISSN/EAN : 978-1-118-52488-6 Note générale : Bibliogr.; Index Langues : Anglais (eng) Mots-clés : Troubles du neurodéveloppement Index. décimale : SCI-B SCI-B - Génétique Résumé : Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399 The Genetics of Neurodevelopmental Disorders [texte imprimé] / Kevin J. MITCHELL, Directeur de publication . - Hoboken [Etats-Unis] : Wiley, 2015 . - 356 p. : ill. ; 18,5cm x 26cm x 2,3cm. ISBN : 978-1-118-52488-6 Bibliogr.; Index Langues : Anglais (eng) Mots-clés : Troubles du neurodéveloppement Index. décimale : SCI-B SCI-B - Génétique Résumé : Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399

Contenu

• The Mutational Spectrum of Neurodevelopmental Disorders / Nancy D. MERNER
• The Genetic Architecture of Neurodevelopmental Disorders / Kevin J. MITCHELL
• Overlapping Etiology of Neurodevelopmental Disorders / Eric KELLEHER
• The Role of Genetic Interactions in Neurodevelopmental Disorders / Jason H. MOORE
• Developmental Instability, Mutation Load, and Neurodevelopmental Disorders / Ronald A. YEO
• Environmental Factors and Gene-Environment Interactions / John MCGRATH
• The Genetics of Brain Malformations / M. Chiara MANZINI
• Animal Models for Neurodevelopmental Disorders / Hala HARONY-NICOLAS
• Cascading Genetic and Environmental Effects on Development: Implications for Intervention / Esha MASSAND
• Disorders of Axon Guidance / Heike BLOCKUS
• Synaptic Disorders / Catalina BETANCUR
• Human Stem Cell Models of Neurodevelopmental Disorders / Peter KIRWAN
• Human Genetics and Clinical Aspects of Neurodevelopmental Disorders / Gholson J. LYON
• Progress Toward Therapies and Interventions for Neurodevelopmental Disorders / Ayokunmi AJETUNMOBI

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Code-barres	Cote	Support	Localisation	Section	Disponibilité
DOC0005031	SCI-B MIT	Livre	Centre d'Information et de Documentation du CRA Rhône-Alpes	SCI - Disciplines Scientifiques	Disponible

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The Role of Genetic Interactions in Neurodevelopmental Disorders / Jason H. MOORE

Public ISBD in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL Titre : The Role of Genetic Interactions in Neurodevelopmental Disorders Type de document : texte imprimé Auteurs : Jason H. MOORE, Auteur ; Kevin J. MITCHELL, Auteur Année de publication : 2015 Importance : p.69-80 Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399 in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL The Role of Genetic Interactions in Neurodevelopmental Disorders [texte imprimé] / Jason H. MOORE, Auteur ; Kevin J. MITCHELL, Auteur . - 2015 . - p.69-80. Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=399

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