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Autism Research and Treatment (1)
Current Genomics (1)
Butler, Merlin G (1)
Butler, Merlin G. (1)
Dhillon, Sukhbir (1)
Hellings, Jessica A (1)
Hellings, Jessica A. (1)
Roberts, Jennifer L. (1)
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Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry
Butler, Merlin G.
Youngs, Erin L.
Roberts, Jennifer L.
Autism Research and Treatment
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.
Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders: A Review
Butler, Merlin G
We review the current status of the role and function of the mitochondrial DNA (mtDNA) in the etiology of autism spectrum disorders (ASD) and the interaction of nuclear and mitochondrial genes. High lactate levels reported in about one in five children with ASD may indicate involvement of the mitochondria in energy metabolism and brain development. Mitochondrial disturbances include depletion, decreased quantity or mutations of mtDNA producing defects in biochemical reactions within the mitochondria. A subset of individuals with ASD manifests copy number variation or small DNA deletions/duplications, but fewer than 20 percent are diagnosed with a single gene condition such as fragile X syndrome. The remaining individuals with ASD have chromosomal abnormalities (e.g., 15q11-q13 duplications), other genetic or multigenic causes or epigenetic defects. Next generation DNA sequencing techniques will enable better characterization of genetic and molecular anomalies in ASD, including defects in the mitochondrial genome particularly in younger children.
Autism spectrum disorders (ASD); mitochondrial DNA (mtDNA) mutations and depletion; oxidative stress; nuclear genes; lactate/pyruvate ratios; genetic causation.
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