Review Paper: Autism Spectrum Disorder—Molecular Mechanisms and Diagnosis

Autism spectrum disorder (ASD) is a complex disorder characterized by: deficits in social communication and interaction; restricted, repetitive patterns of behavior, interests, or activities. In 10–20% of cases of ASD, there was a connection between chromosome aberrations and gene defects. Since there are many factors contributing to this condition, the focus of this research is on the molecular mechanisms associated with ASD and proper diagnosis by applying genomic tools. Rearrangements found among ASD patients are rare de novo and inherited CNVs. These variants hit genes that encode proteins responsible for normal neural development. Nowadays, researchers focus on these mechanisms to explain the dysregulation of neural development in ASD individuals. Gastrointestinal problems that are associated with most ASD cases suggest that it is not just a psychiatric disorder, it also has a physiological base. Rearrangements detected by MLPA should always be confirmed by other methods since some probe signals are more sensitive to sample purity or alterations in experimental conditions. Other genomic tools used for diagnostic purposes are CMA and WES/WGS. The development of novel methods to interpret the potential causes of ASD will further enable patients and their physicians to realize the maximum benefits of genetic testing for clinical care.