Clinical Assessment of Children with Autism Spectrum Disorder: A Retrospective Study.

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by deficits in social interaction, communication, and repetitive behaviors. Recent decades have seen a rise in ASD prevalence, prompting extensive research into its diverse presentations and comorbidities. This thesis aims to describe and analyze the clinical and genetic profiles of children with ASD, with a view to informing the development of comprehensive evaluation protocols. Material and methods: A retrospective, descriptive, quantitative study was conducted at the Neuropsychiatric Department of the Pediatric Hospital Regina Margherita in Turin, Italy, between January 2019 and April 2024. The study involved children diagnosed with ASD based on DSM-5 criteria. Data were collected from clinical interviews, observations, and tests, including ADOS-2 and CBCL. Additional evaluations included genetic testing, EEG, metabolic and biochemical screening, and audiometric exams. Results: A total of 107 children (84% males, mean age 4.5 years) were included. Psychomotor delay was present in 98.1% of cases, language delay in 92.9%, and 64.4% had no functional communication skills. Irritability/aggression and hyperactivity were reported in 34.7% and 31.6% of participants, respectively. Food selectivity was noted in 52.38%. Comorbidities were common, with 65.6% of participants reporting neurological or psychiatric conditions, including epilepsy (47.6%). Sleep problems affected 24.5% of the cohort, with insomnia being the most frequent. Weight problems were relatively uncommon but leaned slightly towards overweight. Instrumental assessments revealed EEG abnormalities in 66.7% of cases, PTEN mutations in 14.3%, and minor genetic anomalies in 2.1% of participants. No significant metabolic disorders were identified. Dyslipidemia was significantly associated with psychomotor delay, food selectivity, and sleep disorders. Iron deficiency correlated with food selectivity, while CGH-array abnormalities were linked to weight issues. Conclusion: The study underscores the heterogeneity of ASD and the necessity of a multifaceted diagnostic approach. The presence of multiple comorbidities and varied symptom severity highlights the importance of personalized intervention strategies. The findings support thorough genetic and metabolic testing as part of routine ASD evaluation to identify underlying conditions and inform treatment plans. Future research should focus on refining diagnostic protocols and exploring the biological underpinnings of ASD to enhance early detection and intervention.