autistic disorder in patients with williams-beuren syndrome a reconsideration of the williams-beuren syndrome phenotype自闭症患者williams-beuren综合症的复议williams-beuren综合症表型.pdf

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype 1,2 3 1 4 5 ` Sylvie Tordjman *, George M. Anderson , Michel Botbol , Annick Toutain , Pierre Sarda , Michele 6 7 3 8 ´ 9 Carlier , Pascale Saugier-Veber , Clarisse Baumann , David Cohen , Celine Lagneaux , Anne-Claude Tabet9, Alain Verloes9 1 Department of Child and Adolescent Psychiatry, Guillaume Regnier Hospital, University of Rennes 1, Rennes, France, 2 Laboratoire de la Psychologie de la Perception, ´ Universite Paris Descartes et UMR 8158 CNRS, Paris, France, 3 Child Study Center, Yale University School of Medicine, New Haven, Connecticut, United States of America, 4 Department of Genetics, Tours University Hospital, Tours, France, 5 Department of Genetics, Montpellier University Hospital, Montpellier, France, 6 Laboratoire de ´ Psychologie Cognitive, Aix-Marseille Universite, CNRS UMR 7290, and Institut Universitaire de France, Marseille, France, 7 Department of Genetics, Rouen University ´ ´ ` Hospital, Rouen, France, 8 Department of Child and Adolescent Psychiatry, Hospital Pitie-Salpetriere, University Paris 6, Paris, France, 9 Department of Genetics, AP-HP- ´ Robert Debre University Hospital, Paris, France Abstract Background: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendli