Autism, Epilepsy and Mitochondrial Disease

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Autism spectrum disorders (ASD), also called pervasive developmental disorders, neurodevelopmental disorders are including a group of processes that occur as common characteristic impaired social interaction, processes verbal and nonverbal language and existence of repetitive behaviors (stereotypies), with limited activities and interests. Autism frequently has partnered with other processes or symptoms of neurological dysfunction such as epilepsy, motor disorders, hyperactivity, hypotonic, mental retardation, which we think that is a disorder neurobiological heterogeneous etiology. It has been estimated the incidence of autism is case in 90 children, in United States. Nevertheless in only 15-40% of cases it can be shown etiology a medical well there may definite. It is a disease or syndrome related to autism, without implying causal etiological a relationship between both problems for it can only establish the concept of autism syndrome or secondary when we establish a clear causal relationship. There are numerous problems causing autism where we note the following: chromosomal, neurocutaneous syndromes, congenital malformations of the central nervous system, neuro-metabolic disorders, ranging from the aminoacidopathies organic acidifies, disorders neurotransmitters, The deficit cerebral glucose transporter, lysosome diseases, prematurity congenital infections, acquired infections central nervous system, to name a few. Since in 1985 Coleman demonstrated the relationship between autism and defects oxidative phosphorylation, there has been a growing case load identified as “Mitochondrial autism,” defined as alteration or dysfunction mitochondrial respiratory chain of patient recognized as autism. The first occurrence estimated impact of autism in children with mitochondrial disease in 1 of 110 and mitochondrial disease in children with autism of 1 in 2000 autistic, it seems much higher than estimated currently. This probable higher incidence suggests possible pathogenic relationship. Frye showed that over 50% of children with autism spectrum disorders disease mitochondrial had biomarkers abnormal. In another study showed impaired role of respiratory chain mitochondrial only just over 20% of children with disorders autism spectrum and mitochondrial disease had a known mutation of the Mitochondrial DNA