Abstract:

Autism is considered to be one of the most challenging issues in education nowadays, as it is a neurodevelopmental disorder that is clinically characterized by impaired social interaction and communication deficits, as well as restricted and repetitive behavior. Its appropriate and timely diagnosis is essential for selecting adequate therapeutic approaches and methods of integration into the school environment. It is accepted that autism is mainly due to genetic causes, and environmental factors have significantly less influence. In the current study, we performed whole exome and chromosome sequencing of a cohort of 20 male and female Bulgarian children with diagnosed autism. Gene analyses revealed that variant clusters concern key neurobiological processes and are overrepresented in functions involving neuronal development, signal transduction, and synapse development. We aimed to consider the data obtained about variant clusters of genes and mutations and determine their relationship to autism-specific behavior patterns. Our results provide an important step forward in the characterization of the subtypes of autism with the potential to develop appropriate approaches to integrating such children into the educational process.

Keywords:

Autism, exome sequencing, chromosome sequencing, educational approaches, education.