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Journal of Child Neurology
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Article

Characterization of Autism in Young Children With Tuberous Sclerosis Complex

Shafali S. Jeste, MD1*, Mustafa Sahin1, Patrick Bolton, PhD, FRCPsych2, George B. Ploubidis, MSc, PhD3, and Ayla Humphrey, PhD4

1 Children’s Hospital and Harvard Medical School, Boston, MA
2 Department of Child Psychiatry and MRC Centre for Social, Genetic, and Developmental Psychiatry, Institute of Psychiatry, London
3 Department of Epidemiology and Population Health, Center for Population Studies, London School of Hygiene and Tropical Medicine, London
4 Department of Psychiatry, University of Cambridge, Cambridge, UK

* To whom correspondence should be addressed. E-mail: shafali.jeste{at}childrens.harvard.edu.


   Abstract
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.

First published on December 26, 2007, doi:10.1177/0883073807309788

Journal of Child Neurology 2008;23:520.

A more recent version of this article appeared on May 1, 2008


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