Abstract
Autism cannot be considered like a disease but like a syndrome with multiple genetic and non-genetic causes. The proportion of cases of autism in which an etiology is identified varies between 10-30 percent. This observation suggests that autism is caused by the interaction of multiple genes and there are variable expressions of the different characteristics. In addition, some monozygotic twin with genetic agreement for autism does not have clinical manifestations suggesting other environmental factors that modify the phenotypical expression. Different studies done in families of autistic children have shown that exist at least ten genes implied in the autism. Several studies have described a possible association between the autism and duplications of the proximal arm of chromosome 15.
In 6 per cent cases of autism has been a genetic specific disease. 42 per cent of patients with Engelmann’s syndrome present concordant clinical criteria with autism diagnosis. Between a 4-6 per cent of autistics children has fragile X syndrome; prevalence of autism in them is between 25-33 per cent, being more frequently founding genetic causes, them molecular study for fragile X syndrome must be routinely in autistic patients. Other pathologies related to the autism are: tuberosclerosis, Moebius, Cornelia, Lange, Williams’s syndromes, etc.
There is some different hypothesis about glutamate role in autism; some investigators proposed deficits of glutamate in autistic children, some others have had an interaction with vaccination and immunologic factors.
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