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An Integrated Metabolic Profile; Genetic, Epigenetic &
Environmental Factors in Autism Spectrum Disorders
By  PhD
Autism is a behaviorally-defined neurodevelopmental disorder that is usually diagnosed in early childhood and is characterised by impairment in reciprocal communication and speech, social withdrawal, and repetitive hyperfocused behaviors. Autism is usually diagnosed before four years of age and is estimated to affect 1 in 100 children in the US with a 4:1 male to female gender bias (1). The 10-fold increase in autism diagnosis in the last decade in the US has justifiably raised great public health concern (CDC 2005).
In addition to complex gene-environment interactions, the heterogeneous presentation of behavioral symptoms within the spectrum of autistic disorders suggests a variable and multi-factorial pathogenesis.
Although both genetic and environmental factors are thought to be involved in the genesis of autism, none as yet have been reproducibly identified. Metabolic dysfunction has not been extensively studied in autistic children despite the fact that chronic biochemical imbalance is often a primary factor in the development of complex neurologic disease (Pennington et al. 2007; Kilbourne et al. 2007; Giordano et al. 2007).
Several lines of evidence suggest that underlying oxidative stress and glutathione depletion contribute to pathophysiology of several neurobehavioral disorders including schizophrenia, bipolar disorder, Parkinson’s disease, Alzheimer’s disease, and autism.
An integrated metabolic profile reflects the combined influence of genetic, epigenetic, and environmental factors that affect the candidate pathway of interest. In this way, the metabolic phenotype of an individual reflects the combined influence of both endogenous and exogenous factors on genotype and provides a window through which the cumulative impact of genes and environment may be viewed.
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Doctor James is a nutritional biochemist who has published over 100 peer-reviewed papers. She has over 20 years research experience in abnormal folate metabolism and disease susceptibility. Her research has focused on defining gene-nutrient interactions that increase susceptibility to cancer, Down Syndrome and most recently, Autism.
Dr. James is a Professor in the Department of Pediatrics at the University of Arkansas for Medical Sciences and Director of the Biochemical Genetics Laboratory at the Arkansas Children's Hospital Research Institute. She received her B.S. degree Phi Beta Kappa from Mills College, and her Ph.D. degree in Nutritional Biochemistry from UCLA.
Dr. James has published over 100 peer-reviewed papers with a focus on gene-nutrient interactions.
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