Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry

Abstract

Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient.

Figure 1

Frontal and profile facial views of the proband at 41 years of age.

Figure 2

Chromosomal microarray analysis of the proband showed a 53 kb duplication of the 16p13.2 region occurring at 6,936,805 to 6,990,017 bp from the p-terminus which includes a partial duplication of the A2BP1 gene.