Autism spectrum disorder and genetic: a possible correlation?

Introduction Autism spectrum disorder (ASD) is a neurodevelopmental characterized by impairment in social interaction and communication, whose etiology heterogeneous, including genetic, epigenetic, environmental factors. It associated with restricted interests stereotyped behaviors high prevalence rates general population, neurobiological bases heritability. Objectives The aim of our study to identify the possible phenotype-genotype relationships regarding disorders evaluate correlation between genomic alterations manifestations overt subthreshold ASD family administered psychiatric clinical evaluations at hospital. Methods M underwent evaluation through MINI interview according SCID-5 criteria, AQ, ADAS, PAS-SR, SHI-SHY,SHY-OBS assess respectively traits adulthood, panic-agoraphobic, social-phobic obsessive-compulsive CAT-Q Italian version, camouflage typical individuals. Array Comparative Genomic Hybridization was used for studying DNA imbalances this family. Results We found that Mrs.A, her father, brothers older sister had microduplication, very likely pathogenic, since it has been never reported healthy subjects harbors several genes. could be related ASD. From questionnaires from interview, emerged Mrs.A affected Bipolar Disorder. Her twin have evaluated early ages child neuropsychiatric clinic they were diagnosed mental psychomotor impairment. father significant trend SHI-SHY SHY-OBS scores. Finally, about sister, even if results not an diagnosis, we speculated she performed score some ADAS items but AQ. Females generally tend attract fewer attention than males thanks their better coping camouflaging mechanisms as well ability “disappear” large groups. Conclusions Genetic knowledge can relevant impact; genetic identified individuals ASD, leading identification treatable comorbidities. Furthermore, knowing causative variants provide crucial information counseling understand neurobiology these contribute diagnosis. Disclosure Interest None Declared