Title |
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
|
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Published in |
Molecular Autism, June 2013
|
DOI | 10.1186/2040-2392-4-18 |
Pubmed ID | |
Authors |
Latha Soorya, Alexander Kolevzon, Jessica Zweifach, Teresa Lim, Yuriy Dobry, Lily Schwartz, Yitzchak Frank, A Ting Wang, Guiqing Cai, Elena Parkhomenko, Danielle Halpern, David Grodberg, Benjamin Angarita, Judith P Willner, Amy Yang, Roberto Canitano, William Chaplin, Catalina Betancur, Joseph D Buxbaum |
Abstract |
22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 3 | 30% |
Spain | 1 | 10% |
United Kingdom | 1 | 10% |
Ireland | 1 | 10% |
Chile | 1 | 10% |
Unknown | 3 | 30% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 8 | 80% |
Practitioners (doctors, other healthcare professionals) | 1 | 10% |
Science communicators (journalists, bloggers, editors) | 1 | 10% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | <1% |
Netherlands | 1 | <1% |
Luxembourg | 1 | <1% |
Unknown | 267 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 47 | 17% |
Student > Ph. D. Student | 31 | 11% |
Student > Master | 28 | 10% |
Student > Doctoral Student | 26 | 10% |
Student > Bachelor | 22 | 8% |
Other | 42 | 15% |
Unknown | 75 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 47 | 17% |
Neuroscience | 40 | 15% |
Agricultural and Biological Sciences | 33 | 12% |
Biochemistry, Genetics and Molecular Biology | 30 | 11% |
Psychology | 21 | 8% |
Other | 24 | 9% |
Unknown | 76 | 28% |