ARRAY-CGH nei Disturbi di Spettro Autistico: ricaduta diagnostica e impatto sulla pratica clinica

Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates; its genetic underpinnings are very heterogeneous and include many common and rare variants. Array-comparative genomic hybridization (CGH) offers significant sensitivity for the identification of copy number variations (CNVs) which can be a susceptibility factor for ASD. The aim of this study was to evaluated diagnostic yield and clinical impact of chromosomal microarray analysis in ASD. We performed Array-CGH for 329 ASD patients; four authors in accordance with the American College of Medical Genetics and Genomics recommendation blindly classified outcomes. After, patients were reassessed, further medical testing derived from the outcome of array-CGH was requested. Pathogenic/likely pathogenic CNV were identified in about 15.2% of patients and in about 27.1% were detected as possibly causal. Among patients with pathogenic/likely pathogenic CNV, in 52.0% the outcome of the array-CGH led to request other diagnostic tests that would not otherwise have been performed. From the results received to date, we have positive outcomes in the 55.0% of the exams. The results of our study highlighting the relevance of array-CGH in the genetic of diagnosis and underlie how its clinical translation can improve the care of children with ASD.