[Autism in tuberous sclerosis]

During the last five years, it has been recognized a very high incidence of autism in children affected by tuberous sclerosis; we believe that this association may be more than just a coincidence and that it may be that the autistic behavior spectrum is related to a great extent, to the anatomic localization of tubers in the frontal and temporoparietal areas. In this study we report our experience with 27 consecutive children, 12 boys and 15 girls with a diagnosis of tuberous sclerosis confirmed by clinical and MRI and or CT findings according to the diagnostic criteria developed by the Diagnosis Criteria Committee of the National Tuberous Sclerosis Association. They were studied during the period of 1988 to 1990. Ages range from 18 months to 16 years (mean: 6.5 years). Twenty-four had epilepsy and were receiving antiepileptic treatment. Seven of the 27 children (25.9 per cent) fulfilled the diagnostic criteria for autistic disorder according to the DSM-III-R. The autistic behavior was evident in all of them by three and half years. The seven children had mental retardation. MRI and CT findings with subependymal calcifications and cortical tubers of frontal and temporoparietal predominance were seen in five of the seven autistic children. In one child, CT was normal and in the other it was not performed. Five were girls and all had West syndrome; two were boys and neither had seizures. Most of the reported cases of children with tuberous sclerosis and autism had experiences West syndrome. In our patients, five of the seven children with autism had west syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)