[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