Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism / Janna GUILFOYLE in Journal of Autism and Developmental Disorders, 53-5 (May 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-5 (May 2023) . - p.1989-2005 Titre : Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism Type de document : Texte imprimé et/ou numérique Auteurs : Janna GUILFOYLE, Auteur ; Molly WINSTON, Auteur ; John SIDERIS, Auteur ; Gary E. MARTIN, Auteur ; Kritika NAYAR, Auteur ; Lauren BUSH, Auteur ; Tom WASSINK, Auteur ; Molly LOSH, Auteur Article en page(s) : p.1989-2005 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n=29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives. En ligne : https://doi.org/10.1007/s10803-022-05459-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=501 [article] Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism [Texte imprimé et/ou numérique] / Janna GUILFOYLE, Auteur ; Molly WINSTON, Auteur ; John SIDERIS, Auteur ; Gary E. MARTIN, Auteur ; Kritika NAYAR, Auteur ; Lauren BUSH, Auteur ; Tom WASSINK, Auteur ; Molly LOSH, Auteur . - p.1989-2005. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-5 (May 2023) . - p.1989-2005 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n=29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives. En ligne : https://doi.org/10.1007/s10803-022-05459-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=501

Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, (June 2015)  

Public ISBD [article]  inMolecular Autism > (June 2015) . - p.1-1 Titre : Erratum: 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.1-1 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-015-0025-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Erratum: 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.1-1. Langues : Anglais (eng) in Molecular Autism > (June 2015) . - p.1-1 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-015-0025-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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

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