Autism spectrum disorder (ASD) consists of a genetically heterogenous group of\nneurobehavioral disorders characterized by impairment in three behavioral domains including\ncommunication, social interaction, and stereotypic repetitive behaviors. ASD affects more than 1%\nof children inWestern societies, with diagnoses on the rise due to improved recognition, screening,\nclinical assessment, and diagnostic testing. We reviewed the role of genetic and metabolic factors\nwhich contribute to the causation of ASD with the use of new genetic technology. Up to 40 percent of\nindividuals with ASD are now diagnosed with genetic syndromes or have chromosomal abnormalities\nincluding small DNA deletions or duplications, single gene conditions, or gene variants and metabolic\ndisturbances with mitochondrial dysfunction. Although the heritability estimate for ASD is between\n70 and 90%, there is a lower molecular diagnostic yield than anticipated. A likely explanation may\nrelate to multifactorial causation with etiological heterogeneity and hundreds of genes involved\nwith a complex interplay between inheritance and environmental factors influenced by epigenetics\nand capabilities to identify causative genes and their variants for ASD. Behavioral and psychiatric\ncorrelates, diagnosis and genetic evaluation with testing are discussed along with psychiatric\ntreatment approaches and pharmacogenetics for selection of medication to treat challenging behaviors\nor comorbidities commonly seen in ASD. We emphasize prioritizing treatment based on targeted\nsymptoms for individuals with ASD, as treatment will vary from patient to patient based on diagnosis,\ncomorbidities, causation, and symptom severity.
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