ABSTRACT
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.
Subject(s)
Autistic Disorder/epidemiology , Central Nervous System Diseases/epidemiology , Adult , Autistic Disorder/etiology , Brain Diseases/complications , Brain Diseases/diagnosis , Brain Diseases/epidemiology , Central Nervous System Diseases/complications , Central Nervous System Diseases/diagnosis , Child , Comorbidity , Electroencephalography , Epilepsy/complications , Epilepsy/diagnosis , Epilepsy/epidemiology , Female , Humans , Intelligence Tests , Male , Utah/epidemiologyABSTRACT
The authors conducted an epidemiologic survey in Utah using a four-level ascertainment system, blind current diagnostic assessments, and DSM-III criteria. Of 483 individuals ascertained, 241 were diagnosed as having autism. The best estimate for the prevalence rate was 4 per 10,000 population. Autism was not associated with parental education, occupation, racial origin, or religion. Sixty-six percent of the autistic subjects scored below 70 on standardized IQ tests, and females scored proportionately lower than males. Twenty (9.7%) of 207 families had more than one autistic sibling, which supports the authors' previous finding that there may be a familial subtype of autism.
Subject(s)
Autistic Disorder/epidemiology , Adolescent , Adult , Autistic Disorder/genetics , Autistic Disorder/psychology , Child , Child, Preschool , Cross-Sectional Studies , Educational Status , Ethnicity , Female , Humans , Intelligence , Male , Occupations , Parents , Religion , Sex Factors , Social Class , UtahABSTRACT
As part of an autopsy research project, the brains of four autistic subjects were examined and compared with those of three comparison subjects without CNS pathology and one with phenytoin toxicity. The cerebellum was selected for initial investigation because pathognomonic symptoms and neurophysiological measures suggest that pathology may exist in the cerebellar-vestibular axis in certain patients. Total Purkinje cell counts were significantly lower in the cerebellar hemisphere and vermis of each autistic subject than in the comparison subjects.
Subject(s)
Autistic Disorder/pathology , Cerebellum/pathology , Purkinje Cells , Adolescent , Adult , Autopsy , Cell Count , Cerebellum/cytology , Child , Child, Preschool , Female , Humans , MaleSubject(s)
Autistic Disorder/diagnosis , Psychiatric Status Rating Scales , Affect , Humans , Interpersonal Relations , Language , Motor Activity , SensationABSTRACT
The UCLA Registry for Genetic Studies in Autism was established in 1980 to test the hypothesis that genetic factors may be etiologically significant in subsets of patients. To date 61 pairs of twins have enrolled and 40 meet research diagnostic criteria for autism. The authors found a concordance for autism in these 40 pairs of 95.7% in the monozygotic twins (22 of 23) and 23.5% in the dizygotic twins (four of 17).
