Autistic Disorder in Patients with Williams-Beuren Syndrome A Reconsideration of the Williams-Beuren Syndrome Phenotype 英文参考文献.docVIP

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Autistic Disorder in Patients with Williams-Beuren Syndrome A Reconsideration of the Williams-Beuren Syndrome Phenotype 英文参考文献.doc

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Autistic Disorder in Patients with Williams-Beuren Syndrome A Reconsideration of the Williams-Beuren Syndrome Phenotype 英文参考文献

AutisticDisorderinPatientswithWilliams-Beuren Syndrome:AReconsiderationoftheWilliams-Beuren SyndromePhenotype SylvieTordjman1,2*,GeorgeM.Anderson3,MichelBotbol1,AnnickToutain4,PierreSarda5,Miche`le Carlier6,PascaleSaugier-Veber7,ClarisseBaumann3,DavidCohen8,Ce′lineLagneaux9 ,Anne-Claude Tabet9,AlainVerloes9 1DepartmentofChildandAdolescentPsychiatry,GuillaumeRegnierHospital,UniversityofRennes1,Rennes,France,2LaboratoiredelaPsychologiedelaPerception, Universite′ ParisDescartesetUMR8158CNRS,Paris,France,3ChildStudyCenter,YaleUniversitySchoolofMedicine,NewHaven,Connecticut,UnitedStatesofAmerica, 4Department of Genetics, Tours University Hospital, Tours, France, 5Department of Genetics, Montpellier University Hospital, Montpellier, France, 6Laboratoire de Psychologie Cognitive, Aix-Marseille Universite′, CNRS UMR 7290, and Institut Universitaire de France, Marseille, France, 7Department of Genetics, Rouen University Hospital,Rouen,France,8DepartmentofChildandAdolescentPsychiatry,HospitalPitie′-Salpe′trie`re, UniversityParis6,Paris,France,9DepartmentofGenetics,AP-HP- RobertDebre′ UniversityHospital,Paris,France Abstract Background:Williams-Beurensyndrome(WBS),araredevelopmentaldisordercausedbydeletionofcontiguousgenesat 7q11.23,hasbeencharacterizedbystrengthsinsocialization(overfriendliness)andcommunication(excessivetalkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understandtherangeofphenotypicexpressioninWBSandtherelationshipbetweenWBSandautisticdisorder. Methodology: The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and AutismDiagnosticObservationSchedule(ADOS)scales.MolecularcharacterizationoftheWBScriticalregionwasperformed byFISH. Findings:FISHanalysisindicatedthatall9patientsdisplayedthecommonWBSdeletion.All9patientsmetADI-Ra