Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation

Previous work demonstrated enlargement of the neocerebellar vermis in Williams' syndrome (WS), despite diminished volumes in the cerebral hemispheres. We present the first in vivo volumetric study of any structure within the cerebellar hemispheres. Using MRI, we identified and reliably measured the neocerebellar tonsils in WS subjects; Down's syndrome (DS) subjects matched for age, IQ, and cerebral volume; and age-matched normal controls. WS tonsils were equal in size to control tonsils and larger than DS tonsils. In proportion to the cerebrum, WS tonsils were larger than controls'. These results coincide with the remarkable neuropsychological preservation of language and affect in WS, despite general cognitive impairment. They contrast with the neocerebellar vermal hypoplasia seen in autism, with its communicative and affective deficits. Additionally, two WS subjects showed Chiari type I malformations, but the average tonsillar position in WS was not found to be different than in controls.