The mitochondria is important in neurodevelopment and dysfunction of the mitochondria is associated with autism spectrum disorder (ASD). About 5% of children with ASD can be diagnosed with classic mitochondrial disease and these children may have certain characteristics such as fatigability, gastrointestinal disorders, unusual types of neurodevelopmental regression, seizures/epilepsy and motor delay. However, further research suggested that abnormalities of mitochondrial function could affect a much higher number of children with ASD, perhaps up to 80%. Recent research has identified unique types of mitochondrial dysfunction that might be associated with environmental exposures and neurodevelopmental regression. Several treatments that target mitochondria appear to have evidence for use in children with ASD, including cofactors such as L-Carnitine, and the ketogenic diet. Although the understanding of the involvement of mitochondria in ASD is evolving, the mitochondrion is clearly a novel molecular target that can help understand the etiology of ASD and treatments that may improve function in children with ASD.
SPEAKER: Richard Frye, MD, PhD