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Autism and tuberous sclerosis

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Abstract

Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the cooccurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism. A literature review of these two disorders substantiates a significant association of autism and TSC with 17–58% of TSC subjects manifesting autism and 0.4–3% of autistic subjects having TSC. In initial data collected on 13 TSC probands and 14 autistic probands in our family study of autism and TSC, we identified 7 TSC subjects with autism. The seven TSC autistic probands are similar to non-TSC autistic probands on the Social and Communication domains of the Autism Diagnostic Inventory (ADI) (Le Couteur et al., 1989), but show fewer Repetitive Rituals. There are more male TSC probands with autism than female, despite an equal sex ratio among TSC probands. The TSC probands with autism have significantly more seizures and mental retardation than those without autism; however, the extent and etiology of associations require further study. Our preliminary findings suggest that a fruitful approach for delineating genetic influences in autism may come from further investigation of possible mechanisms underlying the association of autism and TSC.

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This work was supported by an NIMH grant #1RO1MH44742-01 and by NIH grant #2RO1HD23745. We acknowledge Cathy Lord for her advice regarding the ADI and Robin Gilson for her help in data collection. We also thank all the family members who have participated in this project for their commitment and enthusiasm for this research.

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Smalley, S.L., Tanguay, P.E., Smith, M. et al. Autism and tuberous sclerosis. J Autism Dev Disord 22, 339–355 (1992). https://doi.org/10.1007/BF01048239

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