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Journal of Child Neurology
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Characterization of Autism in Young Children With Tuberous Sclerosis Complex

Shafali S. Jeste, MD

Department of Neurology, Children's Hospital and Harvard Medical School, Boston, Mass, shafali.jeste{at}childrens.harvard.edu

Mustafa Sahin, MD, PhD

Department of Neurology, Children's Hospital and Harvard Medical School, Boston, Mass

Patrick Bolton, PhD, FRCPsych

Department of Child Psychiatry and MRC Centre for Social, Genetic, and Developmental Psychiatry, Institute of Psychiatry

George B. Ploubidis, MSc, PhD

Department of Epidemiology and Population Health, Center for Population Studies, London School of Hygiene and Tropical Medicine, London

Ayla Humphrey, PhD

Department of Psychiatry, University of Cambridge, Cambridge, UK

Both cognitive impairment and autism are common in the tuberous sclerosis complex, but the relationship between the 2 diagnoses has not been formally explored. The authors evaluated 20 clinic-referred children with tuberous sclerosis complex at ages 18, 24, 36, and 60 months and classified them as autism, autism spectrum disorder, or normal on the basis of the Autism Diagnostic Observation Schedule. Using the Mullen Scale of Early Learning, cognitive function in each subgroup was assessed. The authors then analyzed the subscores of the Autism Diagnostic Observation Schedule in children with autism. Children with autism showed significantly more global cognitive impairment than those without autism. In addition, all children had some baseline cognitive impairment and the majority had deficits in play scores. The authors conclude that clinic-referred children with tuberous sclerosis complex and autism are at considerable risk for cognitive impairment. These characteristics may help to guide more tailored services for these high-risk children.

Key Words: tuberous sclerosis complex • autism • Mullen Scale of Early Learning

This version was published on May 1, 2008

Journal of Child Neurology, Vol. 23, No. 5, 520-525 (2008)
DOI: 10.1177/0883073807309788
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