VIDEO ABSTRACTS Epilepsy, dyskinesia and ASD in an infant
Williams-Beuren syndrome Mario Mastrangelo 1, Laura Giordo 1, Maria Teresa Giannini 1, Flavia Giannotti 1, Vincenzo Leuzzi 1 Sapienza University Of Rome - Rome (Italy) INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is a genetic disorder characterized
Structural variants in genes associated with human Williams
WBSCR17, a gene implicated in Williams-Beuren syndrome (WBS) in humans WBS is a neurodevelopmental disorder caused by a 1 5-to 1 8-Mb hemizygous deletion on human chromosome 7q11 23 spanning approximately 28 genes ( 20) This syndrome is characterized by delayed development, cognitive impairment, behavioral abnormal-
Dissociating intuitive physics from intuitive psychology
Williams-Beuren syndrome (WS) Social perception Physical reasoning abstract Prior work suggests that our understanding of how things work (‘‘intuitive physics”) and how people work (‘‘intuitive psychology”) are distinct domains of human cognition Here we directly test the dissociability
Syndrome identification based on 2D analysis software
rotation of the face was recorded on the video Picture standardization and selection Sotos syndrome 1–20 18 Williams–Beuren syndrome 1–29 13 Computer-based syndrome diagnosis
Module: Chromosomopathies
A Angelman syndrome B Rett syndrome C William syndrome D Leigh syndrome E Canavan’s disease Suspect a chromosomopathy if there are characteristic Dysmorphic features Congenital malformations Behavioral phenotypes Neurological abnormalities Can be diagnosed with specific genetic testing
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