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Updated: May 13, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Mainstreaming Diagnostic Genetic Testing and Precision Medicine for Autism Spectrum Disorder: The Role of Child and
David H Ledbetter1, Brenda Finucane2, Daniel Moreno-De-Luca3
1Department of Clinical Sciences, Institute for Pediatric Rare Diseases, Florida State University, 1115 West Call Street, Tallahassee, FL 32306, USA.
Abstract:
Autism Spectrum Disorder (ASD) is a neurodevelopmental psychiatric condition that shares significant clinical and genetic overlap with intellectualdisability (ID) and other neurodevelopmental disorders. Genetic testingin ASD lags far behind that for ID, even though Professional Societiesrecommend genetic testing for all ASD individuals and insurance reimbursement is relatively good. The core competencies for child and adolescent psychiatrists include determining the etiology and diagnosisfor all childhood psychopathology, including ID and ASD. Child psychiatrists should recommend and order genetic testing by exomeor genome sequencing on all children with ASD.
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