Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome

Autism is a neurologic disorder that severely impairs social, language, and cognitive development. Whether autism involves maldevelopment of neuroanatomical structures is not known. The size of the cerebellar vermis in patients with autism was measured on magnetic resonance scans and compared with its size in controls. The neocerebellar vermal lobules VI and VII were found to be significantly smaller in the patients. This appeared to be a result of developmental hypoplasia rather than shrinkage or deterioration after full development had been achieved. In contrast, the adjacent vermal lobules I to V, which are ontogenetically, developmentally, and anatomically distinct from lobules VI and VII, were found to be of normal size. Maldevelopment of the vermal neocerebellum had occurred in both retarded and nonretarded patients with autism. This localized maldevelopment may serve as a temporal marker to identify the events that damage the brain in autism, as well as other neural structures that may be concomitantly damaged. Our findings suggest that in patients with autism, neocerebellar abnormality may directly impair cognitive functions that some investigators have attributed to the neocerebellum; may indirectly affect, through its connections to the brain stem, hypothalamus, and thalamus, the development and functioning of one or more systems involved in cognitive, sensory, autonomic, and motor activities; or may occur concomitantly with damage to other neural sites whose dysfunction directly underlies the cognitive deficits in autism.

The accuracy of identifying the slope of briefly exposed lines was assessed in patients with lesions of the left or right hemisphere and in a group of control patients without history or evidence of brain disease. The frequency of impaired performance was remarkably high in the patients with right hemisphere lesions. In contrast, the patients with left hemisphere lesions did not perform differently from the control group. Visual field defect, aphasic disorder, and age were not related to performance level. The striking interhemispheric difference in performance on this visuospatial task suggests its further development for clinicodiagnostic purposes.