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Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits

From the Developmental Psychiatry Section (Drs. Humphrey and Bolton) and Department of Medical Genetics (Dr. Yates), University of Cambridge, and Department of Neuroradiology (Dr. Higgins), Addenbrooke’s Hospital, Cambridge, and Department of Child Psychiatry and MRC Centre for Social, Genetic, and Developmental Psychiatry (Dr. Bolton), Institute of Psychiatry, London, UK.

Address correspondence and reprint requests to Dr. A. Humphrey, Developmental Psychiatry Section, University of Cambridge, Douglas House, 18b Trumpington Rd., Cambridge CB2 2AH, UK; e-mail: ah290{at}cam.ac.uk

A pair of monozygotic male twins with tuberous sclerosis (TS) were followed between 18 months and 3 years of age. Twin A with 25 large cortical tubers and hence extensive brain involvement was moderately mentally retarded and met criteria for autism. The other twin had more (n = 31) but smaller tubers. He was not mentally retarded and did not meet criteria for autism. This study provides evidence that nongenetic factors such as extent of brain abnormality and not just number of cortical tubers are important in determining phenotypic variability in TS. The findings also raise questions about the mechanisms giving rise to autism in TS.

Received December 16, 2002. Accepted in final form October 7, 2003.

Presented at the International School of Neurological Sciences, 11th Annual Meeting of the Child Neurology Section, "New Advances in Tuberous Sclerosis Complex: From Molecular Pathogenesis to Neurological Phenotypes, " Venice, Italy, September 28, 2001.

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