The brain in infantile autism: posterior fossa structures are abnormal

Infantile autism is a neurologic disorder of social, cognitive, and language development. Earlier MRI studies found hypoplasia of posterior vermal lobules VI and VII and cerebellar hemispheres in the majority of autistic patients, and recent autopsy analyses find severe Purkinje neuron loss in the posterior vermis (lobules VI and VII and VIII to X) and hemispheres. A second type of cerebellar pathology in infantile autism was recently found: hyperplasia (excessive enlargement) of posterior vermal lobules VI and VII. If the autistic samples in some MRI studies that did not detect cerebellar hypoplasia were actually composed of both the hypoplasia and hyperplasia subtypes, then the autistic mean size reported in such studies would have appeared to be near the normal mean size only because it would be the sum of the two opposite subtypes. To test this possibility, we statistically reanalyzed previously published vermal area measures of 78 autistic patients from four separate studies. The results revealed that the autistic patient samples from these four studies were indeed composed of both the hypoplasia subtype (87%, 92%, 89%, and 84% of patients) and the hyperplasia subtype (13%, 8%, 11%, and 16% of patients). Cerebellar abnormalities have been found in 15 autopsy and quantitative MRI reports from nine laboratories involving a total of 226 autistic cases. Autism may be one of the first developmental neuropsychiatric disorders for which substantial concordance exists among several independent microscopic and macroscopic studies as to the location and type of neuroanatomic maldevelopment. Onset might be as early as the second trimester. Discovery of the etiologies underlying cerebellar maldevelopment may be the key to uncovering some of the causes of infantile autism.