Am J Psychiatry 1990; 147:1614-1621
Copyright © 1990 by American Psychiatric Association
The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases
ER Ritvo, A Mason-Brothers, BJ Freeman, C Pingree, WR Jenson, WM McMahon, PB Petersen, LB Jorde, A Mo and A Ritvo
Department of Psychiatry, University of California, Los Angeles.
Twelve rare diseases known to cause CNS pathology were found in 26 (11%) of
233 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 of
abnormal EEGs and seizures. The rarity and diversity of these 12 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.