The relationship between autism and epilepsy and functional brain abnormalities in children with tuberous sclerosis complex (TSC) were examined at the Children’s Hospital of Michigan, Wayne State University, Detroit. Based on tests for autism, behavior and intelligence, patients were divided into three groups: autistic (9 cases); mentally-retarded nonautistic (9); and normal intelligence (8). PET studies in the autistic compared to the retarded nonautistic groups showed decreased glucose metabolism in the lateral temporal gyri bilaterally, increased glucose metabolism in the deep cerebellar nuclei bilaterally, and increased a-methyl-tryptophan (AMT) uptake in caudate nuclei. Disturbed communication skills were associated with a history of infantile spasms and glucose hypometabolism in the lateral temporal gyri. Stereotypical behavior and impaired social and communication interaction were correlated with glucose hypermetabolism in deep cerebellar nuclei and increased AMT uptake in caudate nuclei. [1]

COMMENT. In children with TSC, infantile spasms and functional deficits in the temporal cortex are associated with delayed communication skills, and functional imbalance in subcortical circuits are correlated with stereotypical behavior and impaired social interaction.