Francesca Cucinotta, Arianna Ricciardello, Laura Turriziani, Giorgia Calabrese, Marilena Briguglio, Maria Boncoddo, Fabiana Bellomo, Pasquale Tomaiuolo, Silvia Martines, Marianna Bruschetta, Francesca La Fauci Belponer, Tiziana Di Bella, Costanza Colombi, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Carla Lintas, Roberto Sacco, Thomas Biederer, Barbara Kellam, Stephen W Scherer, Antonio M Persico
BACKGROUND: Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. METHODS: Array-CGH (a-CGH) and whole genome sequencing (WGS) were performed on a multiplex family with two small children diagnosed with ASD at 17 and 18 months of age. Both brothers received the same naturalistic intervention for one year according to the Early Start Denver Model (ESDM), applied by the same therapists, yielding dramatically different treatment outcomes...
June 25, 2020: Molecular Genetics & Genomic Medicine