The UCLA-University of Utah epidemiologic survey of autism: The etiologic role of rare diseases

Twelve rare diseases known to cause CNS pathology were found in 26 (1 1 %) of233 autistic probands identified during a recent epidemiologic survey of Utah. These 26 probands had significantly lower mean IQs than the remaining patients (43 versus 60) but similar sex distribution and prevalence ofabnormal EEGs and seizures. The rarity and diversity of these 1 2 diseases make it highly unlikely that they randomly occurred with autism. Their presence in this epidemiologic survey is the most compelling evidence to date to support the hypothesis that different diseases producing different types of CNS pathology can play an etiologic role in autism. (AmJ Psychiatry1990; 147:1614-1621)