[Autism - Phenotypic variability]

Autism is a neurodevelopmental disorder with a neurobiological basis, affecting 1 in 31 people, with a male predominance (3.8 to 1). Characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors, along with sensory processing difficulties, this condition accompanies individuals throughout their lives, with variations in its progression. According to support needs, it is divided into levels 1 (mild), 2 (moderate), and 3 (severe). While the classification is clear, it does not include clinical subtypes related to the presence of neurodevelopmental and psychiatric disorders, genetic bases, neurogenetic entities, and/or variations in its progression. In this work, I will analyze some frequently observed autistic phenotypes not described in the DSM-5 and delve into four specific ones, recently defined in the literature, that show a genotype-phenotype correlation. These are: 1. Social and behavioral autismo, 2. Mixed autism with developmental delay, 3. Moderate autism, and 4. Widespread autism. Different genes and their expression timing were identified in these phenotypes, suggesting a pre- and postnatal temporality that impacts clinical presentation and age of diagnosis. Identifying different phenotypes facilitates research and allows for a phenotype/genotype correlation, defining clinical profiles and therapeutic guidance.