Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by three core impairments: impaired communication, impaired reciprocal social interaction, and restricted, repetitive, and stereotypical behavior patterns. Spectrum refers to the heterogeneity of presentation, severity of symptoms, and medical comorbidities associated with ASD. Among the most common underlying medical conditions are attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, epilepsy, digestive disorders, metabolic disorders, and immune disorders. At present, in the absence of an objective and accurate diagnosis of ASD, such as a blood test, pharmacological management remains a challenge. There are no approved medications to treat the core symptoms of the disorder and behavioral interventions are typically used as first line treatment. Additionally, psychotropic drugs with different mechanisms of action have been approved to reduce associated symptoms and comorbidities, including aripiprazole, risperidone, and haloperidol for irritability and aggression, methylphenidate, atomoxetine, clonidine, and guanfacine for ADHD, and melatonin for sleep disturbances. The purpose of this review is to emphasize that it is imperative to develop objective, personalized diagnostic kits in order to tailor and individualize treatment strategies, as well as to describe the current pharmacological management options available in clinical practice and new prospects that may be helpful in managing ASD's core symptoms.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which early diagnosis is critical for effective intervention and improved outcomes. MicroRNAs (miRNAs) are small non-coding RNAs that regulate gene expression and have emerged as promising biomarkers for neurological disorders, including ASD. In our previous discovery study, we identified dysregulated expression of several miRNAs in the plasma samples of children with ASD aged 5–12 years. In this study, we aimed to validate these findings in a younger cohort with ASD (aged 2–4 years) and assess their potential use as biomarkers for the early diagnosis of ASD. A total of 108 young children aged 2–4 years were recruited, including 66 children with ASD and 42 age- and sex-matched controls. Using next-generation sequencing and advanced bioinformatics, we validated the differential expression of 17 miRNAs in ASD, which showed consistent dysregulation across both the current and previous cohorts. We also observed significant correlations between several miRNAs and participants’ age, suggesting that age is a key factor influencing dynamic miRNA changes, particularly in the ASD group. Pathway analysis linked these miRNAs to critical regulatory networks involved in neurodevelopment and immune responses. Finally, we found that a combination of four miRNAs (miR-4433b-5p, miR-15a-5p, miR-335-5p, and miR-1180-3p) exhibited high diagnostic accuracy, with an area under the curve (ROC-AUC) of 0.936 (95% CI = 0.892, 0.980; p < 0.001). These findings support the use of this four-miRNA panel as a robust biomarker for early ASD diagnosis and lay the groundwork for future research into miRNA-based diagnostic tools and therapeutic strategies for ASD.

The authors wish to make the following corrections to this paper