[article]
| Titre : |
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome |
| Type de document : |
texte imprimé |
| 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 |
in Molecular Autism > (December 2014) . - p.1-9
[article] A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome [texte imprimé] / 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 |
|  |
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome in Molecular Autism, (December 2014)
