Title |
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome
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Published in |
Molecular Autism, December 2014
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DOI | 10.1186/2040-2392-5-54 |
Pubmed ID | |
Authors |
Alexander Kolevzon, Lauren Bush, A Ting Wang, Danielle Halpern, Yitzchak Frank, David Grodberg, Robert Rapaport, Teresa Tavassoli, William Chaplin, Latha Soorya, Joseph D Buxbaum |
Abstract |
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. |
X Demographics
Geographical breakdown
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Canada | 1 | 14% |
Argentina | 1 | 14% |
Unknown | 2 | 29% |
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Scientists | 2 | 29% |
Mendeley readers
Geographical breakdown
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Spain | 1 | <1% |
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Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 14 | 9% |
Other | 8 | 5% |
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Other | 23 | 15% |
Unknown | 38 | 25% |