Autism is a pervasive developmental disorder of early childhood characterized by severe impairment in: Effective social skills; Absent or impaired language development; and Repetitive and/or stereotyped activities and interests, especially inanimate objects.
The specific cause of autism is unknown. It is associated with increased risks during pregnancy, labor and delivery, and maternal rubella (German measles). Autistic children have a markedly higher incidence of epilepsy which increases with age.
CT scans have isolated a subgroup of autistic children with enlarged ventricles. Use of MRI recently identified a subgroup of autistic adults with hypoplasia of the cerebellar vermis. Individual cases of autism have been associated with the congenital rubella syndrome, cytomegalic inclusion disease, phenylketonuria, and the fragile X syndrome.
Autism is associated with errors in purine metabolism, including an autosomal recessive deficiency of adenylosuccinate lyase; histidase enzyme deficiency; pyrimidine nucleotide deficiency, Rett syndrome, and Lesch-Nyhan syndrome. Purine metabolism is directly involved in DNA synthesis and involves folate, cobalamin, cysteine, homocysteine, and methionine. Disorders in sulphur metabolism (low cysteine and glutathione) have also been found in autism. Autism is associated with hyperserotonemia, which occurs in 35-50% of cases with evidence of central 5-HT abnormalities.
Several controversial etiologies have been proposed, including: environmental polution (especially the use of antimony as a flame-retardent in carpets, blankets and clothes); vaccinations (especially the MMR); and the use of mercury (Thimerosal) as a preservative in vaccinations.
Standard lab tests are used to rule out other disorders. An EEG is often recommended to rule-out brain damage and associated conditions. Psychological testing is often performed. Intellectual level needs to be established and monitored, as it is one of the best measures of prognosis. Comrehensive language assessments are also recommended.
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