Dépouillements

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, (December 2014)  

Public ISBD [article]  inMolecular Autism > (December 2014) . - p.1-9 Titre : A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Alexander KOLEVZON, Auteur ; Lauren BUSH, Auteur ; A. Ting WANG, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; David GRODBERG, Auteur ; Robert RAPAPORT, Auteur ; Teresa TAVASSOLI, Auteur ; William CHAPLIN, Auteur ; Latha SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : p.1-9 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example is SHANK3. SHANK3 deletions and mutations disrupt synaptic function and result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with a frequency of at least 0.5% of ASD cases. Recent evidence from preclinical studies with mouse and human neuronal models of SHANK3 deficiency suggest that insulin-like growth factor-1 (IGF-1) can reverse synaptic plasticity and motor learning deficits. The objective of this study was to pilot IGF-1 treatment in children with PMS to evaluate safety, tolerability, and efficacy for core deficits of ASD, including social impairment and restricted and repetitive behaviors. En ligne : http://dx.doi.org/10.1186/2040-2392-5-54 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome [Texte imprimé et/ou numérique] / Alexander KOLEVZON, Auteur ; Lauren BUSH, Auteur ; A. Ting WANG, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; David GRODBERG, Auteur ; Robert RAPAPORT, Auteur ; Teresa TAVASSOLI, Auteur ; William CHAPLIN, Auteur ; Latha SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur . - p.1-9. Langues : Anglais (eng) in Molecular Autism > (December 2014) . - p.1-9 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example is SHANK3. SHANK3 deletions and mutations disrupt synaptic function and result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with a frequency of at least 0.5% of ASD cases. Recent evidence from preclinical studies with mouse and human neuronal models of SHANK3 deficiency suggest that insulin-like growth factor-1 (IGF-1) can reverse synaptic plasticity and motor learning deficits. The objective of this study was to pilot IGF-1 treatment in children with PMS to evaluate safety, tolerability, and efficacy for core deficits of ASD, including social impairment and restricted and repetitive behaviors. En ligne : http://dx.doi.org/10.1186/2040-2392-5-54 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10 / Lina JONSSON in Molecular Autism, (December 2014)  

Public ISBD [article]  inMolecular Autism > (December 2014) . - p.1-9 Titre : Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10 Type de document : Texte imprimé et/ou numérique Auteurs : Lina JONSSON, Auteur ; Anna ZETTERGREN, Auteur ; Erik PETTERSSON, Auteur ; Daniel HOVEY, Auteur ; Henrik ANCKARSATER, Auteur ; Lars WESTBERG, Auteur ; Paul LICHTENSTEIN, Auteur ; Sebastian LUNDSTROM, Auteur ; Jonas MELKE, Auteur Article en page(s) : p.1-9 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autistic-like traits (ALTs) are continuously distributed in the general population, with the autism spectrum disorder (ASD) at the upper extreme end. A genetic overlap has been shown between ALTs and ASD, indicating that common variation in ASD candidate genes may also influence ALTs. In our study, we have investigated the SNP rs4307059 that has been associated with both ALTs and ASD. In addition, we genotyped polymorphisms in a selection of genes involved in synaptic functioning, that is, SHANK3, RELN, and CNTNAP2, which repeatedly have been associated with ASD. The possible associations of these polymorphisms with ALTs, as well as genetic factors for neurodevelopmental problems (NDPs), were investigated in a large cohort from the general population: The Child and Adolescent Twin Study in Sweden. For analyses of ALTs and NDPs, 12,319 subjects (including 2,268 monozygotic (MZ) and 3,805 dizygotic (DZ) twin pairs) and 8,671 subjects (including 2,243 MZ and 2,044 DZ twin pairs), respectively, were included in the analyses. En ligne : http://dx.doi.org/10.1186/2040-2392-5-55 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10 [Texte imprimé et/ou numérique] / Lina JONSSON, Auteur ; Anna ZETTERGREN, Auteur ; Erik PETTERSSON, Auteur ; Daniel HOVEY, Auteur ; Henrik ANCKARSATER, Auteur ; Lars WESTBERG, Auteur ; Paul LICHTENSTEIN, Auteur ; Sebastian LUNDSTROM, Auteur ; Jonas MELKE, Auteur . - p.1-9. Langues : Anglais (eng) in Molecular Autism > (December 2014) . - p.1-9 Index. décimale : PER Périodiques Résumé : Autistic-like traits (ALTs) are continuously distributed in the general population, with the autism spectrum disorder (ASD) at the upper extreme end. A genetic overlap has been shown between ALTs and ASD, indicating that common variation in ASD candidate genes may also influence ALTs. In our study, we have investigated the SNP rs4307059 that has been associated with both ALTs and ASD. In addition, we genotyped polymorphisms in a selection of genes involved in synaptic functioning, that is, SHANK3, RELN, and CNTNAP2, which repeatedly have been associated with ASD. The possible associations of these polymorphisms with ALTs, as well as genetic factors for neurodevelopmental problems (NDPs), were investigated in a large cohort from the general population: The Child and Adolescent Twin Study in Sweden. For analyses of ALTs and NDPs, 12,319 subjects (including 2,268 monozygotic (MZ) and 3,805 dizygotic (DZ) twin pairs) and 8,671 subjects (including 2,243 MZ and 2,044 DZ twin pairs), respectively, were included in the analyses. En ligne : http://dx.doi.org/10.1186/2040-2392-5-55 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

An examination of autism spectrum traits in adolescents with anorexia nervosa and their parents / Charlotte RHIND in Molecular Autism, (December 2014)  

Public ISBD [article]  inMolecular Autism > (December 2014) . - p.1-9 Titre : An examination of autism spectrum traits in adolescents with anorexia nervosa and their parents Type de document : Texte imprimé et/ou numérique Auteurs : Charlotte RHIND, Auteur ; Elena BONFIOLI, Auteur ; Rebecca HIBBS, Auteur ; Elizabeth GODDARD, Auteur ; Pamela MACDONALD, Auteur ; Simon GOWERS, Auteur ; Ulrike SCHMIDT, Auteur ; Kate TCHANTURIA, Auteur ; Nadia MICALI, Auteur ; Janet TREASURE, Auteur Article en page(s) : p.1-9 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : There may be a link between anorexia nervosa and autism spectrum disorders. The aims of this study were to examine whether adolescents with anorexia nervosa have autism spectrum and/or obsessive-compulsive traits, how many would meet diagnostic criteria for autism spectrum disorder, and whether these traits are shared by parents. En ligne : http://dx.doi.org/10.1186/2040-2392-5-56 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] An examination of autism spectrum traits in adolescents with anorexia nervosa and their parents [Texte imprimé et/ou numérique] / Charlotte RHIND, Auteur ; Elena BONFIOLI, Auteur ; Rebecca HIBBS, Auteur ; Elizabeth GODDARD, Auteur ; Pamela MACDONALD, Auteur ; Simon GOWERS, Auteur ; Ulrike SCHMIDT, Auteur ; Kate TCHANTURIA, Auteur ; Nadia MICALI, Auteur ; Janet TREASURE, Auteur . - p.1-9. Langues : Anglais (eng) in Molecular Autism > (December 2014) . - p.1-9 Index. décimale : PER Périodiques Résumé : There may be a link between anorexia nervosa and autism spectrum disorders. The aims of this study were to examine whether adolescents with anorexia nervosa have autism spectrum and/or obsessive-compulsive traits, how many would meet diagnostic criteria for autism spectrum disorder, and whether these traits are shared by parents. En ligne : http://dx.doi.org/10.1186/2040-2392-5-56 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277