Clinical and genetic study of autism spectrum disorder patients

Autism spectrum disorder (ASD) is a disabling neurodevelopmental disorder, with an extremely high social and economic burden, however many of its facets still remain unclear. The purposes of this study are: (i) to analyse the epidemiological aspect of ASD using data regarding its diagnosis from the past 6 years, (ii) to study the possible alterations found during the genetic analysis and understand whether the presence of an alteration in the array-CGH (aCGH) is predictive of ASD severity level or particular symptoms, and (iii) to evaluate the relationship between the severity level of the diagnosis, according to the Diagnostic and Statistical Manual of mental disorder (DSM-5), with respect to anamnestic, clinical and diagnostic factors. The population of the present study was retrospectively collected among patients of the Unità Operativa Complessa (UOC) Neuropsichiatria Infantile, Dipartimento di Salute della Donna e del Bambino, Ospedale Università di Padova, between January 2018 and June 2023. Based on the subject of the analysis our sample was restricted in a way to avoid missing or partial information: e.g., for the epidemiological aspect, we gathered a sample of 194 patients, while, for genetic aspect, we considered a subsample of 99, corresponding to those that have at least the result of an aCGH test. Regarding the epidemiological aspect, we analysed the number of new diagnosis, gender distribution, high/low functioning distribution, we also highlighted the increased number of diagnosis in the first half of 2023. For the second purpose we attempted to correlate an aCGH positive outcome with neurodevelopmental comorbidities, DSM-5 level, ASD vs ASD High Functioning (HF), motor stereotypes, language delay, motor development delay, regression, EEG anomalies, MR alteration, sensory research, vocal stereotypes, and fine and gross motor skills, and found no statistically significant difference. For the last purpose we found statistically significant correlations (p <0.05) between DSM-5 levels and regression, language, motor stereotype, sensory seeking, motor development, fine-motor skills, separation anxiety and echolalia, and between ASD vs ASD HF and motor stereotypes and separation anxiety; some of these features are considered classical symptoms of autism (e.g., motor stereotypes, sensory seeking, echolalia), while others, despite not being included in the core symptoms, may have a greater role (e.g., separation anxiety, motor development). From our analysis, it emerged the importance of expanding the research on ASD in order to find its underlying neurobiological mechanism while accounting for the individual variability as to pursue the goal of a precision psychiatry.