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Robert K. Naviaux (born in 1956) is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, [1] [2] and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. [3]
The prevalence estimates of mitochondrial disease and dysfunction across studies ranging from about 5 to 80%. This may be, in part, due to the unclear distinction between mitochondrial disease and dysfunction. Mitochondrial diseases are difficult to diagnose and have become better known and detected.
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
The Autism Treatment Evaluation Scale (ATEC) is a 77-item diagnostic assessment tool that was developed by Bernard Rimland and Stephen Edelson at the Autism Research Institute. The ATEC was originally designed to evaluate the effectiveness of autism treatments, but it may also be beneficial as a screening tool for children.
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction (POLIP syndrome). [3] The disease presents in childhood, but often goes unnoticed for decades.
Relationship Development Intervention (RDI) – a trademarked proprietary treatment program for autism spectrum disorders (ASD), based on the belief that the development of dynamic intelligence is the key to improving the quality of life for individuals with autism. Son-Rise – a therapy encouraging adults to connect with autistic children.